#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
TNFRSF4	7293	broad.mit.edu	37	1	1149428	1149428	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:1149428G>A	ENST00000379236.3	-	1	84	c.80C>T	c.(79-81)aCg>aTg	p.T27M	TNFRSF4_ENST00000453580.1_5'Flank	NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	27					cellular defense response (GO:0006968)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin secretion (GO:0051024)|regulation of apoptotic process (GO:0042981)|regulation of protein kinase activity (GO:0045859)|T cell proliferation (GO:0042098)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	tumor necrosis factor-activated receptor activity (GO:0005031)			large_intestine(1)|lung(2)|urinary_tract(1)	4	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;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GTGGAGCCCCGTCACGGTGCT	0.726																																						uc001ade.2																			0					0						c.(79-81)ACG>ATG		tumor necrosis factor receptor superfamily,							19.0	20.0	20.0					1																	1149428		2195	4293	6488	SO:0001583	missense	7293				immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity	g.chr1:1149428G>A	X75962	CCDS11.1	1p36	2008-02-05			ENSG00000186827	ENSG00000186827		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11918	protein-coding gene	gene with protein product		600315		TXGP1L		7510240, 2828930	Standard	NM_003327		Approved	ACT35, OX40, CD134	uc001ade.3	P43489	OTTHUMG00000001415	ENST00000379236.3:c.80C>T	1.37:g.1149428G>A	ENSP00000368538:p.Thr27Met					TNFRSF4_uc001adf.2_Translation_Start_Site	p.T27M	NM_003327	NP_003318	P43489	TNR4_HUMAN		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	1	85	-	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)	27					Q13663|Q2M312|Q5T7M0	Missense_Mutation	SNP	ENST00000379236.3	37	c.80C>T	CCDS11.1	.	.	.	.	.	.	.	.	.	.	G	9.969	1.224981	0.22457	.	.	ENSG00000186827	ENST00000379236	T	0.60920	0.15	3.49	1.52	0.23074	.	1.138080	0.06802	N	0.788974	T	0.32466	0.0830	N	0.08118	0	0.09310	N	1	B	0.30870	0.298	B	0.19666	0.026	T	0.16837	-1.0389	10	0.31617	T	0.26	-9.9719	5.9815	0.19409	0.2551:0.0:0.7449:0.0	.	27	P43489	TNR4_HUMAN	M	27	ENSP00000368538:T27M	ENSP00000368538:T27M	T	-	2	0	TNFRSF4	1139291	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	0.780000	0.26760	0.280000	0.22209	0.491000	0.48974	ACG		0.726	TNFRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004086.1		
KAZN	23254	broad.mit.edu	37	1	15370623	15370623	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:15370623C>T	ENST00000376030.2	+	4	988	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W	KAZN_ENST00000422387.2_Missense_Mutation_p.R232W|KAZN_ENST00000361144.5_Missense_Mutation_p.R226W|KAZN_ENST00000503743.1_Missense_Mutation_p.R232W|KAZN_ENST00000400798.2_Missense_Mutation_p.R138W|KAZN_ENST00000400797.3_Missense_Mutation_p.R138W	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	232	Interaction with PPL.				keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						CAAGGACAACCGGATGAAGGA	0.677																																						uc001avm.3																			0					0						c.(694-696)CGG>TGG		kazrin isoform E							77.0	73.0	74.0					1																	15370623		2203	4300	6503	SO:0001583	missense	23254				keratinization	cornified envelope|cytoplasm|desmosome|nucleus		g.chr1:15370623C>T	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.694C>T	1.37:g.15370623C>T	ENSP00000365198:p.Arg232Trp					KAZ_uc009vog.1_Missense_Mutation_p.R232W|KAZ_uc010obj.1_Missense_Mutation_p.R232W|KAZ_uc001avo.2_Missense_Mutation_p.R226W|KAZ_uc001avp.2_Missense_Mutation_p.R138W|KAZ_uc001avq.2_Missense_Mutation_p.R138W|KAZ_uc001avr.2_Missense_Mutation_p.R135W	p.R232W	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN			4	975	+			232			Interaction with PPL.|Potential.		B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Missense_Mutation	SNP	ENST00000376030.2	37	c.694C>T	CCDS152.2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044064	0.75732	.	.	ENSG00000189337	ENST00000376030;ENST00000503743;ENST00000422387;ENST00000361144;ENST00000376028;ENST00000400798;ENST00000400797	T;T;T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52;0.52;0.52	5.57	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.68430	0.3000	M	0.64997	1.995	0.53688	D	0.999972	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.978;0.978;0.978;0.998	T	0.71052	-0.4704	10	0.87932	D	0	-32.5606	13.3668	0.60689	0.2441:0.7559:0.0:0.0	.	232;138;226;232	Q674X7-2;Q674X7-4;Q674X7-3;Q674X7	.;.;.;KAZRN_HUMAN	W	232;232;232;226;138;138;138	ENSP00000365198:R232W;ENSP00000426015:R232W;ENSP00000391728:R232W;ENSP00000354727:R226W;ENSP00000365196:R138W;ENSP00000383602:R138W;ENSP00000383601:R138W	ENSP00000354727:R226W	R	+	1	2	KAZN	15243210	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.156000	0.42310	2.620000	0.88729	0.563000	0.77884	CGG		0.677	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005690.2	NM_001017999	
HP1BP3	50809	broad.mit.edu	37	1	21106920	21106921	+	Frame_Shift_Ins	INS	-	-	T	rs527248206		TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:21106920_21106921insT	ENST00000312239.5	-	2	152_153	c.13_14insA	c.(13-15)acgfs	p.T5fs	HP1BP3_ENST00000375000.1_Frame_Shift_Ins_p.T5fs|HP1BP3_ENST00000487117.1_5'UTR	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	5					nucleosome assembly (GO:0006334)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|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;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		ACCTTGAGACGTATCAGTCGCC	0.475																																						uc001bdw.1																			0				central_nervous_system(1)|skin(1)	2						c.(13-15)ACGfs		HP1-BP74																																				SO:0001589	frameshift_variant	50809				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:21106920_21106921insT	BC053327	CCDS30621.1	1p36.12	2008-02-05			ENSG00000127483	ENSG00000127483			24973	protein-coding gene	gene with protein product						12477932	Standard	NM_016287		Approved	HP1-BP74	uc001bdw.1	Q5SSJ5	OTTHUMG00000002622	ENST00000312239.5:c.14dupA	1.37:g.21106921_21106921dupT	ENSP00000312625:p.Thr5fs					HP1BP3_uc001bdv.1_5'UTR|HP1BP3_uc010odh.1_Intron|HP1BP3_uc001bdy.1_Frame_Shift_Ins_p.T5fs|HP1BP3_uc001bdz.2_RNA|HP1BP3_uc001bea.2_Frame_Shift_Ins_p.T5fs|HP1BP3_uc001beb.2_Frame_Shift_Ins_p.T5fs	p.T5fs	NM_016287	NP_057371	Q5SSJ5	HP1B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)	2	153_154	-		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	5					A6NI71|A8K5D7|B3KMZ8|B4E210|Q05BI0|Q5SSJ6|Q5SWC6|Q6PIM9|Q8NDF0|Q9UHY0	Frame_Shift_Ins	INS	ENST00000312239.5	37	c.13_14insA	CCDS30621.1																																																																																				0.475	HP1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007457.2	NM_016287	
ARID1A	8289	broad.mit.edu	37	1	27092731	27092731	+	Missense_Mutation	SNP	A	A	G	rs141432631		TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:27092731A>G	ENST00000324856.7	+	9	3123	c.2752A>G	c.(2752-2754)Atg>Gtg	p.M918V	RN7SL501P_ENST00000578818.1_RNA|ARID1A_ENST00000457599.2_Missense_Mutation_p.M918V|ARID1A_ENST00000374152.2_Missense_Mutation_p.M535V	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	918					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)		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)		CTACCCCAATATGAATCAAGG	0.483			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1				Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		0				ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(2752-2754)ATG>GTG		AT rich interactive domain 1A isoform a		A	VAL/MET,VAL/MET	0,4406		0,0,2203	83.0	81.0	82.0		2752,2752	5.1	1.0	1	dbSNP_134	82	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ARID1A	NM_006015.4,NM_139135.2	21,21	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	918/2286,918/2069	27092731	1,13005	2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27092731A>G	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.2752A>G	1.37:g.27092731A>G	ENSP00000320485:p.Met918Val					ARID1A_uc001bmt.1_Missense_Mutation_p.M918V|ARID1A_uc001bmu.1_Missense_Mutation_p.M918V|ARID1A_uc001bmw.1_Missense_Mutation_p.M535V	p.M918V	NM_006015	NP_006006	O14497	ARI1A_HUMAN		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)	9	3125	+		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)	918					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.2752A>G	CCDS285.1	.	.	.	.	.	.	.	.	.	.	A	14.60	2.582688	0.46006	0.0	1.16E-4	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.02369	4.53;4.32;4.35	6.17	5.06	0.68205	.	0.034879	0.85682	N	0.000000	T	0.05044	0.0135	M	0.71581	2.175	0.80722	D	1	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.10450	0.002;0.005;0.002	T	0.26950	-1.0088	10	0.19147	T	0.46	-3.5416	12.1016	0.53788	0.9338:0.0:0.0662:0.0	.	918;918;572	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	V	918;918;535	ENSP00000320485:M918V;ENSP00000387636:M918V;ENSP00000363267:M535V	ENSP00000320485:M918V	M	+	1	0	ARID1A	26965318	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.776000	0.68924	1.165000	0.42670	0.533000	0.62120	ATG		0.483	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135	
RNF19B	127544	broad.mit.edu	37	1	33408041	33408042	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:33408041_33408042insGC	ENST00000373456.7	-	7	1423_1424	c.1424_1425insGC	c.(1423-1425)gccfs	p.A475fs	RNF19B_ENST00000356990.5_Frame_Shift_Ins_p.A474fs|RNF19B_ENST00000235150.4_Frame_Shift_Ins_p.A474fs	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	475					interferon-gamma secretion (GO:0072643)|natural killer cell mediated cytotoxicity (GO:0042267)|protein ubiquitination (GO:0016567)	cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GATTCTTGAGGGCTCTCCAGGC	0.475																																						uc010oho.1																			0					0						c.(1423-1425)GCCfs		ring finger protein 19B isoform a																																				SO:0001589	frameshift_variant	127544					integral to membrane	ligase activity|protein binding|zinc ion binding	g.chr1:33408041_33408042insGC	AK074486	CCDS372.2, CCDS44107.1, CCDS72754.1	1p35.1	2010-05-11	2007-08-20	2007-08-20	ENSG00000116514	ENSG00000116514		"""RING-type (C3HC4) zinc fingers"""	26886	protein-coding gene	gene with protein product		610872	"""IBR domain containing 3"""	IBRDC3		12477932	Standard	XM_006710356		Approved	FLJ90005	uc010oho.2	Q6ZMZ0	OTTHUMG00000004013	ENST00000373456.7:c.1423_1424dupGC	1.37:g.33408042_33408043dupGC	ENSP00000362555:p.Ala475fs					RNF19B_uc001bwm.3_Frame_Shift_Ins_p.A474fs|RNF19B_uc010ohp.1_Frame_Shift_Ins_p.A474fs	p.A475fs	NM_153341	NP_699172	Q6ZMZ0	RN19B_HUMAN			7	1424_1425	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	475					B7ZLB2|E9PAW6|G3XA82|Q0VG77|Q5TH44|Q5TH45|Q6P6A4|Q8N2S8|Q8WUF3	Frame_Shift_Ins	INS	ENST00000373456.7	37	c.1424_1425insGC	CCDS372.2																																																																																				0.475	RNF19B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011465.3	NM_153341	
FAM159A	348378	broad.mit.edu	37	1	53099192	53099192	+	Silent	SNP	G	G	C			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:53099192G>C	ENST00000517870.1	+	1	177	c.27G>C	c.(25-27)gtG>gtC	p.V9V	FAM159A_ENST00000401050.3_3'UTR	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN	family with sequence similarity 159, member A	9						integral component of membrane (GO:0016021)				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						CGAGCTACGTGAGCGCAGAGC	0.751																																						uc001cuf.2																			0					0						c.(25-27)GTG>GTC		hypothetical protein LOC348378							9.0	9.0	9.0					1																	53099192		1853	4039	5892	SO:0001819	synonymous_variant	348378					integral to membrane		g.chr1:53099192G>C		CCDS41336.1	1p32.3	2008-08-08			ENSG00000182183	ENSG00000182183			28757	protein-coding gene	gene with protein product						12477932	Standard	NM_001042693		Approved	MGC52498	uc001cuf.3	Q6UWV7	OTTHUMG00000008330	ENST00000517870.1:c.27G>C	1.37:g.53099192G>C						FAM159A_uc001cug.1_RNA|FAM159A_uc001cuh.2_RNA	p.V9V	NM_001042693	NP_001036158	Q6UWV7	F159A_HUMAN			1	127	+			9					Q6ZRG4	Silent	SNP	ENST00000517870.1	37	c.27G>C	CCDS41336.1																																																																																				0.751	FAM159A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022934.2	NM_001042693	
WDR63	126820	broad.mit.edu	37	1	85559260	85559260	+	Missense_Mutation	SNP	A	A	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:85559260A>T	ENST00000294664.6	+	9	1157	c.977A>T	c.(976-978)cAg>cTg	p.Q326L	WDR63_ENST00000326813.8_Missense_Mutation_p.Q287L|WDR63_ENST00000370596.1_Missense_Mutation_p.Q287L	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	326										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)		AAAGAGTACCAGTCCTTTACC	0.438																																						uc001dkt.2																			0				upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5						c.(976-978)CAG>CTG		WD repeat domain 63							195.0	182.0	187.0					1																	85559260		2203	4300	6503	SO:0001583	missense	126820							g.chr1:85559260A>T		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.977A>T	1.37:g.85559260A>T	ENSP00000294664:p.Gln326Leu					WDR63_uc009wcl.2_Missense_Mutation_p.Q287L	p.Q326L	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	9	1168	+			326					A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	ENST00000294664.6	37	c.977A>T	CCDS702.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.696271	0.88830	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664	T;T;T	0.46451	0.88;0.88;0.87	5.84	5.84	0.93424	WD40 repeat-like-containing domain (1);	0.107611	0.64402	N	0.000003	T	0.44435	0.1293	M	0.76838	2.35	0.58432	D	0.999996	D;P	0.53151	0.958;0.765	P;B	0.52217	0.693;0.287	T	0.41752	-0.9491	10	0.18710	T	0.47	-20.267	16.2068	0.82134	1.0:0.0:0.0:0.0	.	287;326	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	L	287;287;326	ENSP00000359628:Q287L;ENSP00000317463:Q287L;ENSP00000294664:Q326L	ENSP00000294664:Q326L	Q	+	2	0	WDR63	85331848	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.805000	0.69143	2.229000	0.72834	0.528000	0.53228	CAG		0.438	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172	
WDR63	126820	broad.mit.edu	37	1	85592202	85592202	+	Silent	SNP	G	G	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:85592202G>A	ENST00000294664.6	+	20	2301	c.2121G>A	c.(2119-2121)ccG>ccA	p.P707P	WDR63_ENST00000326813.8_Silent_p.P668P|WDR63_ENST00000370596.1_Silent_p.P668P	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	707										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)		AGACTGGACCGCTCCTTCAGT	0.423																																						uc001dkt.2																			0				upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5						c.(2119-2121)CCG>CCA		WD repeat domain 63							34.0	35.0	35.0					1																	85592202		2203	4300	6503	SO:0001819	synonymous_variant	126820							g.chr1:85592202G>A		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.2121G>A	1.37:g.85592202G>A						WDR63_uc009wcl.2_Silent_p.P668P	p.P707P	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	20	2312	+			707			WD 3.		A8K988|Q96L72|Q96NU4	Silent	SNP	ENST00000294664.6	37	c.2121G>A	CCDS702.1																																																																																				0.423	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172	
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	755						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423																																						uc001end.3																			5	Substitution - Missense(5)		skin(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)		0						c.(10588-10590)GAA>AAA		hypothetical protein LOC100132406																																				SO:0001583	missense	100132406							g.chr1:145367767G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10363G>A	1.37:g.145367767G>A	ENSP00000345684:p.Glu3455Lys					NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron	p.E3530K	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	85	10623	+	all_hematologic(923;0.032)		3455					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.10588G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.929795	0.00488	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00784	0.0026	L	0.51422	1.61	0.09310	N	1	.	.	.	.	.	.	T	0.46162	-0.9211	4	0.02654	T	1	.	.	.	.	.	.	.	.	K	575;3455	ENSP00000345684:E3455K	ENSP00000345684:E3455K	E	+	1	0	NBPF10	144079124	0.039000	0.19947	.	.	.	.	0.000000	0.12993	.	.	.	.	GAA		0.423	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703	
TDRKH	11022	broad.mit.edu	37	1	151748582	151748582	+	Missense_Mutation	SNP	T	T	C			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:151748582T>C	ENST00000368822.1	-	8	1840	c.1207A>G	c.(1207-1209)Agg>Ggg	p.R403G	TDRKH_ENST00000484421.1_5'Flank|TDRKH_ENST00000440583.2_Missense_Mutation_p.R179G|TDRKH_ENST00000368824.3_Missense_Mutation_p.R403G|TDRKH_ENST00000368825.3_Missense_Mutation_p.R358G|TDRKH_ENST00000368827.6_Missense_Mutation_p.R403G|TDRKH_ENST00000458431.2_Missense_Mutation_p.R403G|TDRKH_ENST00000368823.1_Missense_Mutation_p.R399G			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	403	Tudor. {ECO:0000255|PROSITE- ProRule:PRU00211}.				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)			CTGAGAGCCCTGAGGTCCTTC	0.537																																						uc009wnb.1																			0				ovary(1)|pancreas(1)	2						c.(1207-1209)AGG>GGG		tudor and KH domain containing isoform a							67.0	68.0	68.0					1																	151748582		1965	4165	6130	SO:0001583	missense	11022						RNA binding	g.chr1:151748582T>C	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.1207A>G	1.37:g.151748582T>C	ENSP00000357812:p.Arg403Gly					TDRKH_uc001eyy.2_Missense_Mutation_p.R179G|TDRKH_uc001ezb.3_Missense_Mutation_p.R399G|TDRKH_uc001ezc.3_Missense_Mutation_p.R358G|TDRKH_uc001eza.3_Missense_Mutation_p.R403G|TDRKH_uc001ezd.3_Missense_Mutation_p.R403G|TDRKH_uc010pdn.1_Missense_Mutation_p.R179G	p.R403G	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		8	1389	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		403			Tudor.		D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5	Missense_Mutation	SNP	ENST00000368822.1	37	c.1207A>G	CCDS41394.1	.	.	.	.	.	.	.	.	.	.	T	12.37	1.917291	0.33815	.	.	ENSG00000182134	ENST00000368827;ENST00000368825;ENST00000368824;ENST00000368823;ENST00000368822;ENST00000458431;ENST00000440583	T;T;T;T;T;T;T	0.12569	2.67;2.67;2.67;2.67;2.67;2.67;2.67	5.38	3.01	0.34805	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.146083	0.64402	D	0.000008	T	0.29223	0.0727	M	0.90922	3.16	0.40830	D	0.983586	D;D;D	0.89917	1.0;1.0;0.993	D;D;D	0.87578	0.998;0.998;0.914	T	0.11641	-1.0579	10	0.66056	D	0.02	-18.8543	7.6603	0.28400	0.1353:0.0:0.4555:0.4092	.	358;399;403	Q5SZR5;Q5SZR4;Q9Y2W6	.;.;TDRKH_HUMAN	G	403;358;403;399;403;403;179	ENSP00000357819:R403G;ENSP00000357817:R358G;ENSP00000357815:R403G;ENSP00000357813:R399G;ENSP00000357812:R403G;ENSP00000395718:R403G;ENSP00000416645:R179G	ENSP00000357812:R403G	R	-	1	2	TDRKH	150015206	0.870000	0.30015	0.999000	0.59377	0.987000	0.75469	0.081000	0.14823	0.463000	0.27118	0.533000	0.62120	AGG		0.537	TDRKH-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000036648.2	NM_006862	
CR2	1380	broad.mit.edu	37	1	207643227	207643227	+	Nonsense_Mutation	SNP	G	G	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:207643227G>A	ENST00000367058.3	+	6	1194	c.1005G>A	c.(1003-1005)tgG>tgA	p.W335*	CR2_ENST00000458541.2_Nonsense_Mutation_p.W335*|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367059.3_Nonsense_Mutation_p.W335*|CR2_ENST00000367057.3_Nonsense_Mutation_p.W335*	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	335	Sushi 5. {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.W335*(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						CTGGGACCTGGAGTGGCCCTG	0.522																																						uc001hfw.2																			1	Substitution - Nonsense(1)		skin(1)	upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						c.(1003-1005)TGG>TGA		complement component (3d/Epstein Barr virus)							125.0	107.0	113.0					1																	207643227		2203	4300	6503	SO:0001587	stop_gained	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207643227G>A	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.1005G>A	1.37:g.207643227G>A	ENSP00000356025:p.Trp335*					CR2_uc001hfv.2_Nonsense_Mutation_p.W335*|CR2_uc009xch.2_Nonsense_Mutation_p.W335*|CR2_uc009xci.1_5'Flank	p.W335*	NM_001877	NP_001868	P20023	CR2_HUMAN			6	1099	+			335			Sushi 5.|Extracellular (Potential).		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Nonsense_Mutation	SNP	ENST00000367058.3	37	c.1005G>A	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	G	36	5.646451	0.96704	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7242	0.69332	0.0:0.0:1.0:0.0	.	.	.	.	X	335	.	ENSP00000356024:W335X	W	+	3	0	CR2	205709850	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.015000	0.64035	2.756000	0.94617	0.561000	0.74099	TGG		0.522	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877	
OR1C1	26188	broad.mit.edu	37	1	247920937	247920937	+	Missense_Mutation	SNP	C	C	T	rs373256453		TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:247920937C>T	ENST00000408896.2	-	1	1045	c.772G>A	c.(772-774)Gtc>Atc	p.V258I		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	258					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(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CTGAAATAGACGGCGATGGCT	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		20161	0.001		0.0	False		,,,				2504	0.0					uc010pza.1																			0				skin(1)	1						c.(772-774)GTC>ATC		olfactory receptor, family 1, subfamily C,		C	ILE/VAL	0,4084		0,0,2042	71.0	70.0	70.0		772	3.2	1.0	1		70	1,8419		0,1,4209	no	missense	OR1C1	NM_012353.2	29	0,1,6251	TT,TC,CC		0.0119,0.0,0.0080	possibly-damaging	258/315	247920937	1,12503	2042	4210	6252	SO:0001583	missense	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247920937C>T	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.772G>A	1.37:g.247920937C>T	ENSP00000386138:p.Val258Ile						p.V258I	NM_012353	NP_036485	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	772	-	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	258			Helical; Name=6; (Potential).		B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Missense_Mutation	SNP	ENST00000408896.2	37	c.772G>A	CCDS41481.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.741331	0.30865	0.0	1.19E-4	ENSG00000221888	ENST00000408896	T	0.00091	8.74	3.22	3.22	0.36961	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00178	0.0005	L	0.32530	0.975	0.09310	N	1	P	0.45126	0.851	P	0.47573	0.55	T	0.49995	-0.8879	9	0.66056	D	0.02	.	5.9827	0.19415	0.0:0.691:0.1975:0.1115	.	258	Q15619	OR1C1_HUMAN	I	258	ENSP00000386138:V258I	ENSP00000386138:V258I	V	-	1	0	OR1C1	245987560	0.000000	0.05858	0.986000	0.45419	0.279000	0.26890	-0.836000	0.04382	1.798000	0.52647	0.591000	0.81541	GTC		0.512	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1		
HKDC1	80201	broad.mit.edu	37	10	71025477	71025477	+	Silent	SNP	C	C	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr10:71025477C>T	ENST00000354624.5	+	17	2642	c.2509C>T	c.(2509-2511)Ctg>Ttg	p.L837L	RP11-227H15.5_ENST00000413220.1_RNA	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	837	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						CGGTGCTGGCCTGGCCGCTAT	0.642																																						uc001jpf.3																			0				ovary(4)|skin(1)	5						c.(2509-2511)CTG>TTG		hexokinase domain containing 1							33.0	35.0	34.0					10																	71025477		2203	4299	6502	SO:0001819	synonymous_variant	80201				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	g.chr10:71025477C>T		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.2509C>T	10.37:g.71025477C>T						HKDC1_uc010qje.1_Silent_p.L700L|HKDC1_uc009xqb.2_RNA	p.L837L	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN			17	2642	+			837					B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Silent	SNP	ENST00000354624.5	37	c.2509C>T	CCDS7288.1																																																																																				0.642	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130	
PTEN	5728	broad.mit.edu	37	10	89692905	89692905	+	Missense_Mutation	SNP	G	G	A	rs121913292|rs121909229		TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr10:89692905G>A	ENST00000371953.3	+	5	1746	c.389G>A	c.(388-390)cGa>cAa	p.R130Q		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	130	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CWS1 and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9635567}.|R -> Q (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9915974}.		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.R130Q(62)|p.0?(37)|p.R130fs*4(13)|p.R130L(12)|p.R130P(7)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*50(1)|p.F56fs*2(1)|p.K128fs*47(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)		GGAAAGGGACGAACTGGTGTA	0.403	R130Q(JHUEM1_ENDOMETRIUM)|R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM)	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)																												uc001kfb.2	R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM)|R130Q(JHUEM1_ENDOMETRIUM)	31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		151	Substitution - Missense(81)|Whole gene deletion(37)|Deletion - Frameshift(23)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(1)	p.R130G(65)|p.R130*(61)|p.R130Q(43)|p.R130fs*4(12)|p.R130L(7)|p.R55fs*1(4)|p.R130P(4)|p.K128_R130del(3)|p.Y27_N212>Y(2)|p.?(2)|p.Y27fs*1(2)|p.R130R(1)|p.K128fs*47(1)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*50(1)|p.F56fs*2(1)	endometrium(77)|prostate(18)|central_nervous_system(16)|lung(7)|breast(7)|ovary(7)|skin(6)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|thyroid(2)|soft_tissue(2)|urinary_tract(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	GRCh37	CM981670|CM991081	PTEN	M	rs121909229	c.(388-390)CGA>CAA		phosphatase and tensin homolog							139.0	129.0	133.0					10																	89692905		2203	4300	6503	SO:0001583	missense	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	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.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692905G>A	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.389G>A	10.37:g.89692905G>A	ENSP00000361021:p.Arg130Gln	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.R130Q	NM_000314	NP_000305	P60484	PTEN_HUMAN	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)	6	1420	+		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)	130	R->M: Does not affect the ability to inhibit AKT/PKB activation.	R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.389G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	36	5.637233	0.96693	.	.	ENSG00000171862	ENST00000371953	D	0.98345	-4.88	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99378	0.9781	H	0.96889	3.9	0.80722	A	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98503	1.0615	8	.	.	.	-1.7685	18.7776	0.91918	0.0:0.0:1.0:0.0	.	130	P60484	PTEN_HUMAN	Q	130	ENSP00000361021:R130Q	.	R	+	2	0	PTEN	89682885	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.429000	0.97481	2.411000	0.81874	0.655000	0.94253	CGA		0.403	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
PDZD7	79955	broad.mit.edu	37	10	102789812	102789812	+	Silent	SNP	G	G	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr10:102789812G>T	ENST00000370215.3	-	2	390	c.165C>A	c.(163-165)ccC>ccA	p.P55P	PDZD7_ENST00000470414.1_Silent_p.P55P|SFXN3_ENST00000393459.1_5'Flank|SFXN3_ENST00000224807.5_5'Flank	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	55						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)		GGATTCCGCGGGGGGGCCCGT	0.662																																						uc001kso.1																			0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(163-165)CCC>CCA		PDZ domain containing 7							50.0	59.0	56.0					10																	102789812		2203	4300	6503	SO:0001819	synonymous_variant	79955					cilium|nucleus	protein binding	g.chr10:102789812G>T	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.165C>A	10.37:g.102789812G>T						PDZD7_uc001ksn.2_Silent_p.P55P|SFXN3_uc001ksp.2_5'Flank|SFXN3_uc001ksq.2_5'Flank|SFXN3_uc010qpx.1_5'Flank	p.P55P	NM_024895	NP_079171	Q9H5P4	PDZD7_HUMAN		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)	2	380	-			55					D5FJ77|Q8N321	Silent	SNP	ENST00000370215.3	37	c.165C>A	CCDS31269.1																																																																																				0.662	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1	NM_024895	
HPS6	79803	broad.mit.edu	37	10	103827208	103827208	+	Silent	SNP	C	C	G			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr10:103827208C>G	ENST00000299238.5	+	1	2062	c.1977C>G	c.(1975-1977)ctC>ctG	p.L659L		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	659					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)		GCCTGGCCCTCGGCCCCTCCA	0.617									Hermansky-Pudlak syndrome																													uc001kuj.2																			0					0						c.(1975-1977)CTC>CTG		Hermansky-Pudlak syndrome-6							63.0	70.0	67.0					10																	103827208		2203	4300	6503	SO:0001819	synonymous_variant	79803	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol|early endosome membrane|endoplasmic reticulum|microsome		g.chr10:103827208C>G	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.1977C>G	10.37:g.103827208C>G							p.L659L	NM_024747	NP_079023	Q86YV9	HPS6_HUMAN		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)	1	2062	+		Colorectal(252;0.122)	659					Q5VV69|Q9H685	Silent	SNP	ENST00000299238.5	37	c.1977C>G	CCDS7527.1																																																																																				0.617	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050018.2	NM_024747	
KIAA1598	57698	broad.mit.edu	37	10	118728190	118728190	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr10:118728190C>T	ENST00000355371.4	-	3	642	c.145G>A	c.(145-147)Gtt>Att	p.V49I	KIAA1598_ENST00000392903.2_Missense_Mutation_p.V49I|KIAA1598_ENST00000260777.10_Missense_Mutation_p.V49I|KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392901.4_5'UTR	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	49					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		AGTTTTTTAACGGCTTCATCT	0.323																																						uc009xyw.2																			0					0						c.(145-147)GTT>ATT		shootin1 isoform a							132.0	118.0	123.0					10																	118728190		2201	4297	6498	SO:0001583	missense	57698				axon guidance	axon		g.chr10:118728190C>T	BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164			29319	protein-coding gene	gene with protein product		611171				10997877, 17030985	Standard	NM_001127211		Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000355371.4:c.145G>A	10.37:g.118728190C>T	ENSP00000347532:p.Val49Ile					KIAA1598_uc001lcz.3_Missense_Mutation_p.V49I|KIAA1598_uc010qso.1_5'UTR|KIAA1598_uc010qsp.1_Missense_Mutation_p.V49I|KIAA1598_uc010qsq.1_5'UTR|KIAA1598_uc001lcy.3_Missense_Mutation_p.V19I	p.V49I	NM_001127211	NP_001120683	A0MZ66	SHOT1_HUMAN		all cancers(201;0.00494)	3	643	-			49			Potential.		A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Missense_Mutation	SNP	ENST00000355371.4	37	c.145G>A	CCDS44482.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.536492	0.45176	.	.	ENSG00000187164	ENST00000392903;ENST00000260777;ENST00000355371	D;D;D	0.90844	-2.74;-2.74;-2.74	5.64	3.8	0.43715	.	0.394276	0.26824	N	0.022302	D	0.89217	0.6652	N	0.24115	0.695	0.80722	D	1	B;B;D	0.71674	0.178;0.025;0.998	B;B;P	0.58130	0.025;0.006;0.833	D	0.88407	0.3019	10	0.48119	T	0.1	-4.9395	12.4516	0.55681	0.0:0.8639:0.0:0.1361	.	49;49;19	A0MZ66;A0MZ66-2;A0MZ66-6	SHOT1_HUMAN;.;.	I	49	ENSP00000376636:V49I;ENSP00000260777:V49I;ENSP00000347532:V49I	ENSP00000260777:V49I	V	-	1	0	KIAA1598	118718180	0.999000	0.42202	1.000000	0.80357	0.989000	0.77384	1.256000	0.32921	0.856000	0.35383	-0.145000	0.13849	GTT		0.323	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018330	
SYCE1	93426	broad.mit.edu	37	10	135370273	135370273	+	Missense_Mutation	SNP	C	C	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr10:135370273C>A	ENST00000343131.5	-	8	622	c.518G>T	c.(517-519)tGg>tTg	p.W173L	SYCE1_ENST00000432597.2_Missense_Mutation_p.W137L|SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000368517.3_Missense_Mutation_p.W137L	NM_001143764.1	NP_001137236.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	173					synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				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)		GTGGAAGTCCCAGAGGTCCTT	0.567																																						uc001lno.2																			0				ovary(1)	1						c.(517-519)TGG>TTG		synaptonemal complex central element protein 1							83.0	71.0	75.0					10																	135370273		2200	4290	6490	SO:0001583	missense	93426				cell division	central element		g.chr10:135370273C>A	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.518G>T	10.37:g.135370273C>A	ENSP00000341282:p.Trp173Leu					CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_Missense_Mutation_p.W45L|SYCE1_uc009ybn.2_Missense_Mutation_p.W173L|SYCE1_uc001lnn.2_Missense_Mutation_p.W137L	p.W173L	NM_001143764	NP_001137236	Q8N0S2	SYCE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	8	623	-		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)	173			Potential.		B2RC80|Q9BWU3|Q9BWU4	Missense_Mutation	SNP	ENST00000343131.5	37	c.518G>T	CCDS44501.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.145200	0.37825	.	.	ENSG00000171772	ENST00000303903;ENST00000432597;ENST00000368517;ENST00000343131	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	4.4	2.29	0.28610	.	0.279671	0.31697	N	0.007217	T	0.25195	0.0612	L	0.55481	1.735	0.23304	N	0.997943	B;B;B	0.12013	0.004;0.005;0.002	B;B;B	0.14578	0.006;0.011;0.004	T	0.17653	-1.0362	10	0.42905	T	0.14	0.3368	6.5646	0.22505	0.2656:0.5498:0.1846:0.0	.	45;173;137	Q8N0S2-3;Q8N0S2;Q8N0S2-2	.;SYCE1_HUMAN;.	L	173;137;137;173	ENSP00000303978:W173L;ENSP00000411779:W137L;ENSP00000357503:W137L;ENSP00000341282:W173L	ENSP00000303978:W173L	W	-	2	0	SYCE1	135220263	1.000000	0.71417	0.996000	0.52242	0.808000	0.45660	0.923000	0.28757	0.604000	0.29930	0.655000	0.94253	TGG		0.567	SYCE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_201564	
DENND5A	23258	broad.mit.edu	37	11	9171674	9171674	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr11:9171674G>A	ENST00000328194.3	-	15	3009	c.2689C>T	c.(2689-2691)Ctt>Ttt	p.L897F	DENND5A_ENST00000530044.1_Missense_Mutation_p.L897F|DENND5A_ENST00000527700.1_Missense_Mutation_p.L240F	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	897	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						TGTCTGGAAAGTAACTTTTTT	0.517																																						uc001mhl.2																			0				liver(1)	1						c.(2689-2691)CTT>TTT		RAB6 interacting protein 1							121.0	103.0	109.0					11																	9171674		2201	4296	6497	SO:0001583	missense	23258							g.chr11:9171674G>A	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.2689C>T	11.37:g.9171674G>A	ENSP00000328524:p.Leu897Phe					DENND5A_uc001mhk.2_Missense_Mutation_p.L240F|DENND5A_uc010rbw.1_Missense_Mutation_p.L897F|DENND5A_uc010rbx.1_RNA	p.L897F	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN			15	2944	-			897			RUN 1.		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	37	c.2689C>T	CCDS31423.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.283908|5.283908	0.95489|0.95489	.|.	.|.	ENSG00000184014|ENSG00000184014	ENST00000328194;ENST00000530044;ENST00000527700|ENST00000524446	T;T;T|.	0.68025|.	-0.3;-0.3;-0.3|.	6.08|6.08	6.08|6.08	0.98989|0.98989	RUN (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78394|0.78394	0.4276|0.4276	M|M	0.74467|0.74467	2.265|2.265	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.97110|.	0.987;1.0|.	T|T	0.75575|0.75575	-0.3270|-0.3270	10|5	0.87932|.	D|.	0|.	.|.	20.6634|20.6634	0.99662|0.99662	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	897;897|.	E9PS91;Q6IQ26|.	.;DEN5A_HUMAN|.	F|I	897;897;240|67	ENSP00000328524:L897F;ENSP00000435866:L897F;ENSP00000432549:L240F|.	ENSP00000328524:L897F|.	L|T	-|-	1|2	0|0	DENND5A|DENND5A	9128250|9128250	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.947000|0.947000	0.59692|0.59692	8.006000|8.006000	0.88564|0.88564	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	CTT|ACT		0.517	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213	
OR4C11	219429	broad.mit.edu	37	11	55371464	55371464	+	Missense_Mutation	SNP	C	C	T	rs146220981	byFrequency	TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr11:55371464C>T	ENST00000302231.4	-	1	410	c.386G>A	c.(385-387)cGt>cAt	p.R129H		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	129						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						GGTTGGGTAACGCAAGGGCTT	0.458																																						uc010rii.1																			0				ovary(1)	1						c.(385-387)CGT>CAT		olfactory receptor, family 4, subfamily C,		C	HIS/ARG	2,4352		1,0,2176	89.0	74.0	79.0		386	-7.0	0.0	11	dbSNP_134	79	0,8016		0,0,4008	yes	missense	OR4C11	NM_001004700.2	29	1,0,6184	TT,TC,CC		0.0,0.0459,0.0162	benign	129/311	55371464	2,12368	2177	4008	6185	SO:0001583	missense	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371464C>T	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.386G>A	11.37:g.55371464C>T	ENSP00000306651:p.Arg129His						p.R129H	NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN			1	386	-			129			Cytoplasmic (Potential).		B9EIL4|Q8NGL8	Missense_Mutation	SNP	ENST00000302231.4	37	c.386G>A	CCDS31503.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.092162	0.00364	4.59E-4	0.0	ENSG00000172188	ENST00000302231	T	0.00669	5.9	4.34	-7.04	0.01578	GPCR, rhodopsin-like superfamily (1);	0.442679	0.19111	N	0.122442	T	0.00271	0.0008	N	0.00652	-1.29	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.32666	-0.9898	10	0.02654	T	1	.	14.9372	0.70967	0.0:0.1691:0.0:0.8309	.	129	Q6IEV9	OR4CB_HUMAN	H	129	ENSP00000306651:R129H	ENSP00000306651:R129H	R	-	2	0	OR4C11	55128040	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-5.808000	0.00097	-1.571000	0.01663	-0.357000	0.07601	CGT		0.458	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700	
PRG2	5553	broad.mit.edu	37	11	57156544	57156544	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr11:57156544G>A	ENST00000311862.5	-	3	378	c.305C>T	c.(304-306)cCt>cTt	p.P102L	PRG2_ENST00000525955.1_Missense_Mutation_p.P102L|RP11-872D17.8_ENST00000529411.1_Missense_Mutation_p.P207L|PRG2_ENST00000533605.1_Missense_Mutation_p.P102L	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)	102					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)	CTGGCACCCAGGGATGCCCAC	0.532																																						uc001njz.2																			0				central_nervous_system(1)	1						c.(304-306)CCT>CTT		proteoglycan 2 preproprotein	Sargramostim(DB00020)						107.0	97.0	101.0					11																	57156544		2201	4296	6497	SO:0001583	missense	5553				defense response to bacterium|immune response	extracellular region|transport vesicle	heparin binding|sugar binding	g.chr11:57156544G>A	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.305C>T	11.37:g.57156544G>A	ENSP00000312134:p.Pro102Leu					PRG2_uc001njw.1_RNA|PRG2_uc001njx.1_RNA|PRG2_uc001njy.1_RNA|PRG2_uc001nka.2_Missense_Mutation_p.P102L|PRG2_uc001nkb.2_Missense_Mutation_p.P102L|PRG2_uc001nkd.2_Missense_Mutation_p.P102L|PRG2_uc001nkc.2_Missense_Mutation_p.P102L|PRG2_uc001nke.2_Missense_Mutation_p.P382L	p.P102L	NM_002728	NP_002719	P13727	PRG2_HUMAN		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)	2	332	-			102					A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	ENST00000311862.5	37	c.305C>T	CCDS7955.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464840	0.63513	.	.	ENSG00000186652;ENSG00000186652;ENSG00000186652;ENSG00000254979	ENST00000311862;ENST00000533605;ENST00000525955;ENST00000529411	T;T;T;T	0.54479	0.98;2.72;0.98;0.57	5.34	4.37	0.52481	C-type lectin (1);	0.442616	0.19090	N	0.122991	T	0.65923	0.2738	L	0.59436	1.845	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.71656	0.916;0.974	T	0.56902	-0.7902	10	0.87932	D	0	.	11.1508	0.48458	0.0:0.1862:0.8138:0.0	.	102;102	A6XMW0;P13727	.;PRG2_HUMAN	L	102;102;102;207	ENSP00000312134:P102L;ENSP00000433231:P102L;ENSP00000433016:P102L;ENSP00000431536:P207L	ENSP00000312134:P102L	P	-	2	0	RP11-872D17.8;PRG2	56913120	0.004000	0.15560	0.119000	0.21687	0.062000	0.15995	1.301000	0.33447	2.489000	0.83994	0.561000	0.74099	CCT		0.532	PRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392468.1	NM_002728	
PRG2	5553	broad.mit.edu	37	11	57156546	57156546	+	Silent	SNP	G	G	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr11:57156546G>A	ENST00000311862.5	-	3	376	c.303C>T	c.(301-303)atC>atT	p.I101I	PRG2_ENST00000525955.1_Silent_p.I101I|RP11-872D17.8_ENST00000529411.1_Silent_p.I206I|PRG2_ENST00000533605.1_Silent_p.I101I	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)	101					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)	GGCACCCAGGGATGCCCACCA	0.537																																						uc001njz.2																			0				central_nervous_system(1)	1						c.(301-303)ATC>ATT		proteoglycan 2 preproprotein	Sargramostim(DB00020)						113.0	102.0	106.0					11																	57156546		2201	4296	6497	SO:0001819	synonymous_variant	5553				defense response to bacterium|immune response	extracellular region|transport vesicle	heparin binding|sugar binding	g.chr11:57156546G>A	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.303C>T	11.37:g.57156546G>A						PRG2_uc001njw.1_RNA|PRG2_uc001njx.1_RNA|PRG2_uc001njy.1_RNA|PRG2_uc001nka.2_Silent_p.I101I|PRG2_uc001nkb.2_Silent_p.I101I|PRG2_uc001nkd.2_Silent_p.I101I|PRG2_uc001nkc.2_Silent_p.I101I|PRG2_uc001nke.2_Silent_p.I381I	p.I101I	NM_002728	NP_002719	P13727	PRG2_HUMAN		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)	2	330	-			101					A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Silent	SNP	ENST00000311862.5	37	c.303C>T	CCDS7955.1																																																																																				0.537	PRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392468.1	NM_002728	
MS4A14	84689	broad.mit.edu	37	11	60184319	60184319	+	Silent	SNP	C	C	T	rs147367847	byFrequency	TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr11:60184319C>T	ENST00000300187.6	+	5	2155	c.1878C>T	c.(1876-1878)gcC>gcT	p.A626A	MS4A14_ENST00000395005.2_Silent_p.A609A|MS4A14_ENST00000531783.1_Silent_p.A659A|MS4A14_ENST00000531787.1_Silent_p.A514A	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	626	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						ATGTTCAAGCCGAAGGACAGC	0.458													C|||	3	0.000599042	0.0	0.0029	5008	,	,		22341	0.0		0.001	False		,,,				2504	0.0					uc001npj.2																			0				breast(1)	1						c.(1876-1878)GCC>GCT		membrane-spanning 4-domains, subfamily A, member		C	,	4,4402	8.1+/-20.4	0,4,2199	67.0	64.0	65.0		1827,1878	-6.0	0.0	11	dbSNP_134	65	16,8584	11.9+/-42.8	0,16,4284	no	coding-synonymous,coding-synonymous	MS4A14	NM_001079692.1,NM_032597.3	,	0,20,6483	TT,TC,CC		0.186,0.0908,0.1538	,	609/663,626/680	60184319	20,12986	2203	4300	6503	SO:0001819	synonymous_variant	84689					integral to membrane	receptor activity	g.chr11:60184319C>T	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.1878C>T	11.37:g.60184319C>T						MS4A14_uc001npi.2_Silent_p.A514A|MS4A14_uc001npn.2_Silent_p.A364A|MS4A14_uc001npk.2_Silent_p.A609A|MS4A14_uc001npl.2_Silent_p.A364A|MS4A14_uc001npm.2_Silent_p.A364A	p.A626A	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN			5	2443	+			626			Gln-rich.		E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Silent	SNP	ENST00000300187.6	37	c.1878C>T	CCDS31569.1																																																																																				0.458	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2		
MEN1	4221	broad.mit.edu	37	11	64572600	64572600	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr11:64572600C>T	ENST00000337652.1	-	9	1774	c.1271G>A	c.(1270-1272)gGc>gAc	p.G424D	MEN1_ENST00000377313.1_Missense_Mutation_p.G424D|MAP4K2_ENST00000294066.2_5'Flank|MAP4K2_ENST00000468062.1_5'Flank|MEN1_ENST00000377326.3_Missense_Mutation_p.G419D|MEN1_ENST00000315422.4_Missense_Mutation_p.G419D|MEN1_ENST00000377321.1_Missense_Mutation_p.G384D|MEN1_ENST00000394376.1_Missense_Mutation_p.G424D|MEN1_ENST00000478548.1_5'UTR|MAP4K2_ENST00000377350.3_5'Flank|MEN1_ENST00000377316.2_Intron|MEN1_ENST00000443283.1_Missense_Mutation_p.G424D|MEN1_ENST00000312049.6_Missense_Mutation_p.G419D|MEN1_ENST00000394374.2_Missense_Mutation_p.G424D	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	424			Missing (in MEN1).		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.L414_E425del(1)|p.G419fs*26(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						TTTGCAGATGCCGTCGTAGAA	0.637			"""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)	uc001obj.2			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	D|Mis|N|F|S	multiple endocrine neoplasia type 1 gene			E		parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid	parathyroid tumors|Pancreatic neuroendocrine tumors		2	Deletion - Frameshift(1)|Deletion - In frame(1)	p.L414_E425del(1)|p.G419fs*26(1)	parathyroid(2)	parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1)	238						c.(1270-1272)GGC>GAC		menin isoform 1							86.0	75.0	79.0					11																	64572600		2201	4297	6498	SO:0001583	missense	4221	Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64572600C>T	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.1271G>A	11.37:g.64572600C>T	ENSP00000337088:p.Gly424Asp					MAP4K2_uc001obh.2_5'Flank|MAP4K2_uc001obi.2_5'Flank|MAP4K2_uc010rnp.1_5'Flank|MEN1_uc001obk.2_Missense_Mutation_p.G424D|MEN1_uc001obl.2_Missense_Mutation_p.G384D|MEN1_uc001obm.2_Missense_Mutation_p.G419D|MEN1_uc001obn.2_Missense_Mutation_p.G424D|MEN1_uc001obo.2_Missense_Mutation_p.G424D|MEN1_uc001obp.2_Missense_Mutation_p.G419D|MEN1_uc001obq.2_Missense_Mutation_p.G424D|MEN1_uc001obr.2_Missense_Mutation_p.G424D	p.G424D	NM_130800	NP_570712	O00255	MEN1_HUMAN			9	1344	-			424		Missing (in MEN1).			A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000337652.1	37	c.1271G>A	CCDS8083.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044483	0.93685	.	.	ENSG00000133895	ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313	D;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;-6.72	3.71	3.71	0.42584	.	0.270585	0.35525	N	0.003142	D	0.99616	0.9860	M	0.67397	2.05	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.91635	0.964;0.999;0.979	D	0.97268	0.9909	10	0.87932	D	0	-25.3535	13.4541	0.61189	0.0:1.0:0.0:0.0	.	419;384;424	O00255-2;O00255-3;O00255	.;.;MEN1_HUMAN	D	384;419;419;419;424;424;424;424;424	ENSP00000366538:G384D;ENSP00000366543:G419D;ENSP00000308975:G419D;ENSP00000323747:G419D;ENSP00000337088:G424D;ENSP00000377901:G424D;ENSP00000377899:G424D;ENSP00000396940:G424D;ENSP00000366530:G424D	ENSP00000308975:G419D	G	-	2	0	MEN1	64329176	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.770000	0.74990	2.104000	0.64026	0.456000	0.33151	GGC		0.637	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1		
KDM4E	390245	broad.mit.edu	37	11	94758834	94758834	+	Missense_Mutation	SNP	A	A	G			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr11:94758834A>G	ENST00000450979.2	+	1	413	c.113A>G	c.(112-114)cAa>cGa	p.Q38R		NM_001161630.1	NP_001155102.1	B2RXH2	KDM4E_HUMAN	lysine (K)-specific demethylase 4E	38	JmjN. {ECO:0000255|PROSITE- ProRule:PRU00537}.				histone H3-K9 demethylation (GO:0033169)|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(1)|endometrium(7)|kidney(1)|lung(3)	12						ATGGAGTCCCAAGGCGCACAT	0.463																																						uc010ruf.1																			0					0						c.(112-114)CAA>CGA		lysine (K)-specific demethylase 4D-like							88.0	67.0	74.0					11																	94758834		692	1591	2283	SO:0001583	missense	390245				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94758834A>G	BC157851	CCDS44713.1	11q21	2012-03-30	2012-03-28	2012-03-28		ENSG00000235268		"""Chromatin-modifying enzymes / K-demethylases"""	37098	protein-coding gene	gene with protein product			"""lysine (K)-specific demethylase 4D-like"""	KDM4DL		21076780	Standard	NM_001161630		Approved	JMJD2E	uc010ruf.1	B2RXH2		ENST00000450979.2:c.113A>G	11.37:g.94758834A>G	ENSP00000397239:p.Gln38Arg						p.Q38R	NM_001161630	NP_001155102	B2RXH2	KD4DL_HUMAN			1	413	+			38			JmjN.			Missense_Mutation	SNP	ENST00000450979.2	37	c.113A>G	CCDS44713.1	.	.	.	.	.	.	.	.	.	.	a	9.063	0.994939	0.19043	.	.	ENSG00000235268	ENST00000450979	T	0.22743	1.94	2.18	2.18	0.27775	Transcription factor jumonji, JmjN (2);	.	.	.	.	T	0.25754	0.0627	M	0.67700	2.07	0.26207	N	0.979355	B	0.32918	0.39	B	0.40134	0.32	T	0.15896	-1.0421	9	0.27785	T	0.31	-16.3977	8.2694	0.31836	1.0:0.0:0.0:0.0	.	38	B2RXH2	KD4DL_HUMAN	R	38	ENSP00000397239:Q38R	ENSP00000397239:Q38R	Q	+	2	0	KDM4DL	94398482	0.990000	0.36364	0.509000	0.27700	0.540000	0.34992	6.311000	0.72835	1.264000	0.44198	0.374000	0.22700	CAA		0.463	KDM4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396649.1	NM_001161630	
ATM	472	broad.mit.edu	37	11	108183214	108183214	+	Missense_Mutation	SNP	A	A	G			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr11:108183214A>G	ENST00000452508.2	+	41	6184	c.5995A>G	c.(5995-5997)Ata>Gta	p.I1999V	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.I1999V			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1999	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)			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)	AGAAACTGGAATAAGTTTACA	0.328			"""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)																												uc001pkb.1			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		0				haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240						c.(5995-5997)ATA>GTA	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							75.0	86.0	82.0					11																	108183214		2201	4294	6495	SO:0001583	missense	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108183214A>G	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.5995A>G	11.37:g.108183214A>G	ENSP00000388058:p.Ile1999Val	TSP Lung(14;0.12)				ATM_uc009yxr.1_Missense_Mutation_p.I1999V|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.I651V|ATM_uc001pkg.1_Missense_Mutation_p.I356V|ATM_uc009yxt.1_Missense_Mutation_p.I113V	p.I1999V	NM_000051	NP_000042	Q13315	ATM_HUMAN		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)	40	6380	+		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)	1999			FAT.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.5995A>G	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	13.10	2.135058	0.37728	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.01495	4.83;4.83	5.2	5.2	0.72013	PIK-related kinase (1);Armadillo-type fold (1);	0.042935	0.85682	D	0.000000	T	0.02970	0.0088	M	0.65975	2.015	0.80722	D	1	P;B	0.38922	0.651;0.168	B;B	0.37387	0.248;0.075	T	0.58891	-0.7556	10	0.18710	T	0.47	.	12.4848	0.55866	0.8608:0.1392:0.0:0.0	.	651;1999	E9PFP9;Q13315	.;ATM_HUMAN	V	1999	ENSP00000278616:I1999V;ENSP00000388058:I1999V	ENSP00000278616:I1999V	I	+	1	0	ATM	107688424	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.657000	0.46724	2.090000	0.63153	0.460000	0.39030	ATA		0.328	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
LMNTD1	160492	broad.mit.edu	37	12	25699396	25699396	+	Missense_Mutation	SNP	T	T	C			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr12:25699396T>C	ENST00000282881.6	-	3	489	c.340A>G	c.(340-342)Aag>Gag	p.K114E	IFLTD1_ENST00000413632.2_Missense_Mutation_p.K135E|IFLTD1_ENST00000539744.1_Missense_Mutation_p.K17E|IFLTD1_ENST00000445693.1_Missense_Mutation_p.K51E|IFLTD1_ENST00000458174.2_Missense_Mutation_p.K135E	NM_152590.3	NP_689803.2	Q8N9Z9	LMTD1_HUMAN		114					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)					GTAAGTTTCTTTGAATCACCA	0.373																																						uc001rgs.2																			0				ovary(2)|central_nervous_system(1)	3						c.(340-342)AAG>GAG		intermediate filament tail domain containing 1							91.0	86.0	88.0					12																	25699396		2203	4299	6502	SO:0001583	missense	160492					intermediate filament	structural molecule activity	g.chr12:25699396T>C																												ENST00000282881.6:c.340A>G	12.37:g.25699396T>C	ENSP00000282881:p.Lys114Glu					IFLTD1_uc001rgt.1_Missense_Mutation_p.K17E|IFLTD1_uc010sji.1_Missense_Mutation_p.K135E|IFLTD1_uc010sjj.1_Missense_Mutation_p.K51E|IFLTD1_uc009zjc.2_Missense_Mutation_p.K135E	p.K114E	NM_152590	NP_689803	Q8N9Z9	ILFT1_HUMAN			3	490	-	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)		114					B4DL27|B4DY70|Q8IY38	Missense_Mutation	SNP	ENST00000282881.6	37	c.340A>G	CCDS8704.1	.	.	.	.	.	.	.	.	.	.	T	12.92	2.081917	0.36758	.	.	ENSG00000152936	ENST00000282881;ENST00000539744;ENST00000458174;ENST00000445693;ENST00000413632;ENST00000538178;ENST00000540106	T;T;T;T;T	0.19105	2.36;2.48;2.36;2.42;2.17	4.9	2.56	0.30785	.	.	.	.	.	T	0.12135	0.0295	L	0.27053	0.805	0.20196	N	0.999928	B;B;P;B	0.40731	0.125;0.125;0.728;0.386	B;B;B;B	0.33799	0.077;0.063;0.17;0.052	T	0.14476	-1.0471	9	0.54805	T	0.06	-16.7459	6.1996	0.20569	0.0:0.1991:0.0:0.8009	.	51;135;135;114	Q8N9Z9-3;Q8N9Z9-5;Q8N9Z9-4;Q8N9Z9	.;.;.;ILFT1_HUMAN	E	114;17;135;51;135;89;89	ENSP00000282881:K114E;ENSP00000443132:K17E;ENSP00000407353:K135E;ENSP00000407043:K51E;ENSP00000393150:K135E	ENSP00000282881:K114E	K	-	1	0	IFLTD1	25590663	0.005000	0.15991	0.137000	0.22149	0.869000	0.49853	0.320000	0.19540	0.458000	0.26988	0.533000	0.62120	AAG		0.373	IFLTD1-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402279.1		
CPNE8	144402	broad.mit.edu	37	12	39268300	39268300	+	Nonsense_Mutation	SNP	T	T	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr12:39268300T>A	ENST00000331366.5	-	2	208	c.112A>T	c.(112-114)Aga>Tga	p.R38*	CPNE8_ENST00000360449.3_Nonsense_Mutation_p.R26*	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	38	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				AATGTGTCTCTGTCAAGAAGA	0.264																																						uc001rls.1																			0				pancreas(1)	1						c.(112-114)AGA>TGA		copine VIII							46.0	52.0	50.0					12																	39268300		2203	4298	6501	SO:0001587	stop_gained	144402							g.chr12:39268300T>A	AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.112A>T	12.37:g.39268300T>A	ENSP00000329748:p.Arg38*						p.R38*	NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN			2	196	-	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)	38			C2 1.		Q2TB41|Q86VY2	Nonsense_Mutation	SNP	ENST00000331366.5	37	c.112A>T	CCDS8733.1	.	.	.	.	.	.	.	.	.	.	T	35	5.533873	0.96460	.	.	ENSG00000139117	ENST00000331366;ENST00000360449	.	.	.	4.43	3.25	0.37280	.	0.063001	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-17.5051	8.4004	0.32583	0.0:0.0:0.199:0.801	.	.	.	.	X	38;26	.	ENSP00000329748:R38X	R	-	1	2	CPNE8	37554567	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.111000	0.57838	0.782000	0.33613	0.477000	0.44152	AGA		0.264	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403856.1	NM_153634	
DIP2B	57609	broad.mit.edu	37	12	51102260	51102260	+	Missense_Mutation	SNP	A	A	G			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr12:51102260A>G	ENST00000301180.5	+	22	2598	c.2564A>G	c.(2563-2565)tAt>tGt	p.Y855C		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	855						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						TCTGTATTTTATGATGAGCGC	0.448																																						uc001rwv.2																			0				ovary(4)|breast(1)|pancreas(1)	6						c.(2563-2565)TAT>TGT		DIP2 disco-interacting protein 2 homolog B							291.0	211.0	238.0					12																	51102260		2203	4300	6503	SO:0001583	missense	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51102260A>G	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.2564A>G	12.37:g.51102260A>G	ENSP00000301180:p.Tyr855Cys					DIP2B_uc009zlt.2_Missense_Mutation_p.Y285C	p.Y855C	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN			22	2720	+			855					Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	c.2564A>G	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	A	19.65	3.868040	0.72065	.	.	ENSG00000066084	ENST00000301180	T	0.10860	2.83	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.19846	0.0477	L	0.47716	1.5	0.80722	D	1	D	0.62365	0.991	P	0.54965	0.765	T	0.00510	-1.1697	10	0.38643	T	0.18	-14.842	14.5128	0.67800	1.0:0.0:0.0:0.0	.	855	Q9P265	DIP2B_HUMAN	C	855	ENSP00000301180:Y855C	ENSP00000301180:Y855C	Y	+	2	0	DIP2B	49388527	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.180000	0.71981	2.279000	0.76181	0.402000	0.26972	TAT		0.448	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602	
SDR9C7	121214	broad.mit.edu	37	12	57324008	57324008	+	Splice_Site	SNP	A	A	G			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr12:57324008A>G	ENST00000293502.1	-	2	704		c.e2+1			NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7						oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	retinol dehydrogenase activity (GO:0004745)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						GGGCCCAGTTACCTTATGCTG	0.537																																						uc010sqw.1																			0				central_nervous_system(1)	1						c.e2+1		short chain dehydrogenase/reductase family 9C,							114.0	116.0	115.0					12																	57324008		2203	4300	6503	SO:0001630	splice_region_variant	121214					cytoplasm	binding|oxidoreductase activity	g.chr12:57324008A>G	AY044434	CCDS8926.1	12q13.3	2014-09-04			ENSG00000170426	ENSG00000170426	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	29958	protein-coding gene	gene with protein product		609769				12234675, 19027726	Standard	NM_148897		Approved	SDR-O, RDHS	uc010sqw.2	Q8NEX9	OTTHUMG00000171004	ENST00000293502.1:c.560+1T>C	12.37:g.57324008A>G							p.R187_splice	NM_148897	NP_683695	Q8NEX9	DR9C7_HUMAN			2	560	-								B3KVB4	Splice_Site	SNP	ENST00000293502.1	37	c.560_splice	CCDS8926.1	.	.	.	.	.	.	.	.	.	.	A	16.62	3.172686	0.57584	.	.	ENSG00000170426	ENST00000293502	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4244	0.67204	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SDR9C7	55610275	1.000000	0.71417	0.990000	0.47175	0.536000	0.34869	7.442000	0.80503	2.066000	0.61787	0.528000	0.53228	.		0.537	SDR9C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411211.1	NM_148897	Intron
TUBA3C	7278	broad.mit.edu	37	13	19748215	19748215	+	Missense_Mutation	SNP	T	T	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr13:19748215T>A	ENST00000400113.3	-	5	1245	c.1141A>T	c.(1141-1143)Acc>Tcc	p.T381S		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	381					'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)		ATGGCCGTGGTGTTGCTCAGC	0.627																																						uc009zzj.2																			0				ovary(3)|skin(2)	5						c.(1141-1143)ACC>TCC		tubulin, alpha 3c							90.0	80.0	83.0					13																	19748215		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19748215T>A	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.1141A>T	13.37:g.19748215T>A	ENSP00000382982:p.Thr381Ser						p.T381S	NM_006001	NP_005992	Q13748	TBA3C_HUMAN		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)	5	1190	-		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)	381					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.1141A>T	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	t	10.23	1.293585	0.23564	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	D	0.83163	-1.69	1.22	-0.131	0.13494	.	0.000000	0.48286	U	0.000185	T	0.79221	0.4409	.	.	.	0.34214	D	0.674588	.	.	.	.	.	.	T	0.76152	-0.3064	7	0.45353	T	0.12	.	4.6562	0.12618	0.0:0.2066:0.0:0.7934	.	.	.	.	S	381	ENSP00000382982:T381S	ENSP00000354037:T381S	T	-	1	0	TUBA3C	18646215	1.000000	0.71417	0.987000	0.45799	0.916000	0.54674	4.871000	0.63042	-0.026000	0.13895	0.163000	0.16589	ACC		0.627	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001	
AHNAK2	113146	broad.mit.edu	37	14	105413630	105413630	+	Missense_Mutation	SNP	G	G	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr14:105413630G>T	ENST00000333244.5	-	7	8277	c.8158C>A	c.(8158-8160)Cac>Aac	p.H2720N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2720						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)			TCGGGAACGTGGCCCTCTGGG	0.602																																						uc010axc.1																			0				ovary(1)	1						c.(8158-8160)CAC>AAC		AHNAK nucleoprotein 2							123.0	135.0	131.0					14																	105413630		1911	4117	6028	SO:0001583	missense	113146					nucleus		g.chr14:105413630G>T	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.8158C>A	14.37:g.105413630G>T	ENSP00000353114:p.His2720Asn					AHNAK2_uc001ypx.2_Missense_Mutation_p.H2620N	p.H2720N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	8278	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2720					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.8158C>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	4.809	0.150409	0.09185	.	.	ENSG00000185567	ENST00000333244	T	0.00816	5.66	2.76	-1.11	0.09840	.	.	.	.	.	T	0.01124	0.0037	L	0.56280	1.765	0.09310	N	1	P	0.40578	0.722	B	0.36534	0.227	T	0.48768	-0.9006	9	0.19147	T	0.46	.	11.0637	0.47964	0.0:0.5618:0.4382:0.0	.	2720	Q8IVF2	AHNK2_HUMAN	N	2720	ENSP00000353114:H2720N	ENSP00000353114:H2720N	H	-	1	0	AHNAK2	104484675	0.000000	0.05858	0.001000	0.08648	0.038000	0.13279	-0.431000	0.06965	-0.082000	0.12640	0.313000	0.20887	CAC		0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
SKOR1	390598	broad.mit.edu	37	15	68118619	68118619	+	Silent	SNP	C	C	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr15:68118619C>T	ENST00000380035.2	+	2	511	c.453C>T	c.(451-453)tgC>tgT	p.C151C	SKOR1_ENST00000554240.1_Silent_p.C112C|SKOR1_ENST00000341418.5_Silent_p.C337C|SKOR1_ENST00000554054.1_Silent_p.C123C|SKOR1_ENST00000389002.1_Silent_p.C142C			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	151					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						CGCGCCGCTGCGGCATGATCA	0.662																																						uc002aqy.1																			0					0						c.(424-426)TGC>TGT		transcriptional corepressor Corl1							60.0	58.0	59.0					15																	68118619		2200	4298	6498	SO:0001819	synonymous_variant	390598				negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity	g.chr15:68118619C>T		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.453C>T	15.37:g.68118619C>T							p.C142C	NM_001031807	NP_001026977	P84550	SKOR1_HUMAN			2	426	+			151					A6NIP4|A6NJY0|Q2VWA5	Silent	SNP	ENST00000380035.2	37	c.426C>T																																																																																					0.662	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000410832.1	NM_001031807	
ADAMTS7	11173	broad.mit.edu	37	15	79083051	79083051	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr15:79083051G>A	ENST00000388820.4	-	6	1199	c.989C>T	c.(988-990)gCc>gTc	p.A330V	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	330	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				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						CAGGGGATGGGCATCCCCCTT	0.592																																						uc002bej.3																			0					0						c.(988-990)GCC>GTC		ADAM metallopeptidase with thrombospondin type 1							184.0	136.0	152.0					15																	79083051		2196	4293	6489	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79083051G>A	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.989C>T	15.37:g.79083051G>A	ENSP00000373472:p.Ala330Val					ADAMTS7_uc010und.1_Missense_Mutation_p.A330V|ADAMTS7_uc002bek.1_Missense_Mutation_p.A330V	p.A330V	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN			6	1200	-			330			Peptidase M12B.		Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.989C>T	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	G	1.785	-0.481016	0.04383	.	.	ENSG00000136378	ENST00000388820;ENST00000456326	D	0.87103	-2.21	4.86	-1.29	0.09288	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	1.854880	0.02471	N	0.087547	T	0.81564	0.4849	L	0.27975	0.815	0.09310	N	1	B;B;B	0.29232	0.056;0.034;0.238	B;B;B	0.34590	0.088;0.044;0.186	T	0.67341	-0.5695	10	0.29301	T	0.29	.	9.694	0.40145	0.0:0.4852:0.2537:0.2611	.	330;330;330	E7EP58;A8MQ00;Q9UKP4	.;.;ATS7_HUMAN	V	330	ENSP00000373472:A330V	ENSP00000373472:A330V	A	-	2	0	ADAMTS7	76870106	0.000000	0.05858	0.006000	0.13384	0.042000	0.13812	0.879000	0.28146	-0.189000	0.10482	0.313000	0.20887	GCC		0.592	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272	
OR4F15	390649	broad.mit.edu	37	15	102358715	102358715	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr15:102358715G>A	ENST00000332238.4	+	1	350	c.326G>A	c.(325-327)gGc>gAc	p.G109D		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	109						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)|large_intestine(5)|lung(10)	19	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)			GCTCTTGGGGGCACTGAGATG	0.458																																						uc010uts.1																			0					0						c.(325-327)GGC>GAC		olfactory receptor, family 4, subfamily F,							137.0	126.0	130.0					15																	102358715		2203	4300	6503	SO:0001583	missense	390649				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102358715G>A	BK004405	CCDS32342.1	15q26.3	2012-08-09				ENSG00000182854		"""GPCR / Class A : Olfactory receptors"""	15078	protein-coding gene	gene with protein product							Standard	NM_001001674		Approved		uc010uts.2	Q8NGB8		ENST00000332238.4:c.326G>A	15.37:g.102358715G>A	ENSP00000333184:p.Gly109Asp						p.G109D	NM_001001674	NP_001001674	Q8NGB8	O4F15_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		1	326	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		109			Helical; Name=3; (Potential).		B2RNQ5|Q6IF57|Q96R70	Missense_Mutation	SNP	ENST00000332238.4	37	c.326G>A	CCDS32342.1	.	.	.	.	.	.	.	.	.	.	.	9.634	1.137102	0.21123	.	.	ENSG00000182854	ENST00000332238	T	0.01347	4.99	5.57	1.48	0.22813	GPCR, rhodopsin-like superfamily (1);	0.196730	0.36134	N	0.002776	T	0.01940	0.0061	M	0.66506	2.035	0.09310	N	1	B	0.33964	0.434	B	0.33339	0.162	T	0.42515	-0.9447	9	.	.	.	.	6.9225	0.24395	0.154:0.4244:0.4216:0.0	.	109	Q8NGB8	O4F15_HUMAN	D	109	ENSP00000333184:G109D	.	G	+	2	0	OR4F15	100176238	0.000000	0.05858	0.070000	0.20053	0.439000	0.31926	0.112000	0.15479	0.122000	0.18314	0.650000	0.86243	GGC		0.458	OR4F15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417594.1	NM_001001674	
SRL	6345	broad.mit.edu	37	16	4242554	4242554	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr16:4242554C>T	ENST00000399609.3	-	6	1034	c.1022G>A	c.(1021-1023)cGc>cAc	p.R341H	SRL_ENST00000537996.1_Missense_Mutation_p.R299H	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	800	Acidic domain, probably binds calcium. {ECO:0000250}.					sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R341H(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						GGCGTGGATGCGGACCCGGAT	0.512																																						uc002cvz.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(1021-1023)CGC>CAC		sarcalumenin							129.0	138.0	135.0					16																	4242554		2120	4235	6355	SO:0001583	missense	6345					sarcoplasmic reticulum lumen	GTP binding|GTPase activity	g.chr16:4242554C>T	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.1022G>A	16.37:g.4242554C>T	ENSP00000382518:p.Arg341His					SRL_uc002cvy.3_RNA	p.R341H	NM_001098814	NP_001092284	Q86TD4	SRCA_HUMAN			6	1035	-			800						Missense_Mutation	SNP	ENST00000399609.3	37	c.1022G>A	CCDS42113.1	.	.	.	.	.	.	.	.	.	.	C	32	5.159235	0.94686	.	.	ENSG00000185739	ENST00000399609;ENST00000330063;ENST00000537996	D;D	0.85556	-2.0;-2.0	5.97	5.97	0.96955	.	0.000000	0.85682	U	0.000000	D	0.92958	0.7759	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92826	0.6276	10	0.87932	D	0	-11.4353	20.4239	0.99064	0.0:1.0:0.0:0.0	.	341	Q86TD4-2	.	H	341;799;299	ENSP00000382518:R341H;ENSP00000440350:R299H	ENSP00000333285:R799H	R	-	2	0	SRL	4182555	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.818000	0.86416	2.828000	0.97474	0.655000	0.94253	CGC		0.512	SRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438087.1	XM_064152	
ZFP3	124961	broad.mit.edu	37	17	4995064	4995064	+	Missense_Mutation	SNP	A	A	G			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr17:4995064A>G	ENST00000318833.3	+	2	601	c.265A>G	c.(265-267)Aat>Gat	p.N89D		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	89					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(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						CCGGGAGAATAATGAGAGTGA	0.468																																						uc002gaq.2																			0					0						c.(265-267)AAT>GAT		zinc finger protein-3							53.0	54.0	53.0					17																	4995064		2203	4300	6503	SO:0001583	missense	124961				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:4995064A>G	BX647638	CCDS11067.1	17p13.2	2013-01-08	2012-11-27		ENSG00000180787	ENSG00000180787		"""Zinc fingers, C2H2-type"""	12861	protein-coding gene	gene with protein product		194480	"""zinc finger protein homologous to Zfp-3 in mouse"", ""zinc finger protein 3 homolog (mouse)"""				Standard	NM_153018		Approved	FLJ30726, ZNF752	uc002gaq.3	Q96NJ6		ENST00000318833.3:c.265A>G	17.37:g.4995064A>G	ENSP00000320347:p.Asn89Asp						p.N89D	NM_153018	NP_694563	Q96NJ6	ZFP3_HUMAN			2	390	+			89					A5PLL4	Missense_Mutation	SNP	ENST00000318833.3	37	c.265A>G	CCDS11067.1	.	.	.	.	.	.	.	.	.	.	A	9.269	1.045111	0.19748	.	.	ENSG00000180787	ENST00000318833	T	0.09255	3.0	3.61	0.115	0.14643	.	0.942731	0.08680	N	0.909601	T	0.04724	0.0128	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43475	-0.9389	10	0.30854	T	0.27	-0.3211	3.3517	0.07155	0.5667:0.2072:0.2261:0.0	.	89	Q96NJ6	ZFP3_HUMAN	D	89	ENSP00000320347:N89D	ENSP00000320347:N89D	N	+	1	0	ZFP3	4935788	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.219000	0.17641	-0.029000	0.13827	0.460000	0.39030	AAT		0.468	ZFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438979.1	NM_153018	
ZNF287	57336	broad.mit.edu	37	17	16455757	16455757	+	Missense_Mutation	SNP	T	T	C			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr17:16455757T>C	ENST00000395824.1	-	6	2316	c.1699A>G	c.(1699-1701)Aat>Gat	p.N567D	ZNF287_ENST00000395825.3_Missense_Mutation_p.N567D			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	560					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|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)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		CCACATTCATTACATTTATAA	0.353																																						uc002gqi.2																			0					0						c.(1699-1701)AAT>GAT		zinc finger protein 287							88.0	91.0	90.0					17																	16455757		2203	4300	6503	SO:0001583	missense	57336				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:16455757T>C	AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.1699A>G	17.37:g.16455757T>C	ENSP00000379168:p.Asn567Asp						p.N567D	NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.083)	6	2152	-			560			C2H2-type 8.		Q6IAG1	Missense_Mutation	SNP	ENST00000395824.1	37	c.1699A>G	CCDS11179.2	.	.	.	.	.	.	.	.	.	.	T	11.88	1.769529	0.31320	.	.	ENSG00000141040	ENST00000395825;ENST00000395824	T;T	0.07327	3.2;3.2	5.18	5.18	0.71444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.111762	0.40728	N	0.001027	T	0.03520	0.0101	N	0.02876	-0.465	0.09310	N	0.999997	B	0.19445	0.036	B	0.16289	0.015	T	0.35076	-0.9803	10	0.39692	T	0.17	.	7.8199	0.29282	0.0:0.0903:0.0:0.9097	.	560	Q9HBT7	ZN287_HUMAN	D	567	ENSP00000379169:N567D;ENSP00000379168:N567D	ENSP00000379168:N567D	N	-	1	0	ZNF287	16396482	0.000000	0.05858	0.987000	0.45799	0.995000	0.86356	-1.043000	0.03535	2.317000	0.78254	0.459000	0.35465	AAT		0.353	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1		
RAI1	10743	broad.mit.edu	37	17	17697187	17697187	+	Missense_Mutation	SNP	G	G	A	rs542056789	byFrequency	TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr17:17697187G>A	ENST00000353383.1	+	3	1394	c.925G>A	c.(925-927)Gcc>Acc	p.A309T	RAI1_ENST00000261641.6_Missense_Mutation_p.A309T	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	309	Gln-rich.				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)		CCAAAACCTCGCCAAGTATCA	0.627													G|||	2	0.000399361	0.0	0.0	5008	,	,		17408	0.0		0.0	False		,,,				2504	0.002					uc002grm.2																			0				central_nervous_system(1)|skin(1)	2						c.(925-927)GCC>ACC		retinoic acid induced 1							50.0	59.0	56.0					17																	17697187		2203	4300	6503	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17697187G>A	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.925G>A	17.37:g.17697187G>A	ENSP00000323074:p.Ala309Thr					RAI1_uc002grn.1_Missense_Mutation_p.A309T	p.A309T	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	1394	+			309			Gln-rich.		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.925G>A	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.431292	0.43122	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.35421	1.31;1.31;1.31	5.37	2.15	0.27550	.	0.427236	0.23817	N	0.044280	T	0.26376	0.0644	L	0.51422	1.61	0.28015	N	0.934756	D	0.58620	0.983	B	0.37239	0.244	T	0.14783	-1.0460	10	0.41790	T	0.15	.	9.5283	0.39178	0.2442:0.0:0.7558:0.0	.	309	Q7Z5J4	RAI1_HUMAN	T	309;309;309;309;309;286	ENSP00000323074:A309T;ENSP00000379120:A309T;ENSP00000261641:A309T	ENSP00000261641:A309T	A	+	1	0	RAI1	17637912	0.189000	0.23263	0.984000	0.44739	0.980000	0.70556	0.703000	0.25646	0.205000	0.20568	0.561000	0.74099	GCC		0.627	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665	
KRT37	8688	broad.mit.edu	37	17	39577227	39577227	+	Missense_Mutation	SNP	T	T	C			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr17:39577227T>C	ENST00000225550.3	-	7	1252	c.1253A>G	c.(1252-1254)aAt>aGt	p.N418S	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	418	Tail.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				GGAACAGGGATTGCAGGGGAG	0.547																																						uc002hwp.1																			0				skin(1)	1						c.(1252-1254)AAT>AGT		keratin 37							66.0	68.0	67.0					17																	39577227		2203	4300	6503	SO:0001583	missense	8688					intermediate filament	structural molecule activity	g.chr17:39577227T>C	Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6455	protein-coding gene	gene with protein product		604541	"""keratin, hair, acidic, 7"""	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.1253A>G	17.37:g.39577227T>C	ENSP00000225550:p.Asn418Ser					uc002hwo.1_Intron	p.N418S	NM_003770	NP_003761	O76014	KRT37_HUMAN			7	1300	-		Breast(137;0.000496)	418			Tail.			Missense_Mutation	SNP	ENST00000225550.3	37	c.1253A>G	CCDS32653.1	.	.	.	.	.	.	.	.	.	.	T	11.35	1.613661	0.28712	.	.	ENSG00000108417	ENST00000225550	T	0.81330	-1.48	5.27	4.19	0.49359	.	0.000000	0.52532	D	0.000065	T	0.67040	0.2851	N	0.08118	0	0.24126	N	0.995787	D	0.61080	0.989	P	0.48704	0.587	T	0.60326	-0.7285	10	0.52906	T	0.07	.	7.7516	0.28901	0.0:0.0964:0.0:0.9036	.	418	O76014	KRT37_HUMAN	S	418	ENSP00000225550:N418S	ENSP00000225550:N418S	N	-	2	0	KRT37	36830753	1.000000	0.71417	0.483000	0.27378	0.401000	0.30781	2.205000	0.42770	0.839000	0.34971	0.533000	0.62120	AAT		0.547	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	NM_003770	
STXBP4	252983	broad.mit.edu	37	17	53237217	53237217	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr17:53237217G>A	ENST00000376352.2	+	18	1814	c.1607G>A	c.(1606-1608)cGc>cAc	p.R536H	STXBP4_ENST00000434978.2_Missense_Mutation_p.R514H	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	536					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)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						AATCTATCTCGCTCAGAGGAG	0.438																																						uc002iuf.1																			0				ovary(1)	1						c.(1606-1608)CGC>CAC		syntaxin binding protein 4							123.0	99.0	107.0					17																	53237217		2203	4300	6503	SO:0001583	missense	252983					cytoplasm	calcium ion binding	g.chr17:53237217G>A	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.1607G>A	17.37:g.53237217G>A	ENSP00000365530:p.Arg536His					STXBP4_uc010dcd.1_Missense_Mutation_p.R514H	p.R536H	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN			18	1814	+			536					Q8IVZ5	Missense_Mutation	SNP	ENST00000376352.2	37	c.1607G>A	CCDS11584.2	.	.	.	.	.	.	.	.	.	.	G	15.76	2.928475	0.52759	.	.	ENSG00000166263	ENST00000376352;ENST00000434978	T;T	0.04049	3.72;3.73	5.22	4.25	0.50352	.	0.201501	0.35040	N	0.003485	T	0.02767	0.0083	N	0.12182	0.205	0.80722	D	1	P;P	0.35959	0.53;0.53	B;B	0.24848	0.035;0.056	T	0.56288	-0.8004	10	0.56958	D	0.05	0.0216	11.0328	0.47783	0.0864:0.0:0.9136:0.0	.	514;536	E7EPP7;Q6ZWJ1	.;STXB4_HUMAN	H	536;514	ENSP00000365530:R536H;ENSP00000391087:R514H	ENSP00000365530:R536H	R	+	2	0	STXBP4	50592216	1.000000	0.71417	0.994000	0.49952	0.973000	0.67179	4.502000	0.60400	1.438000	0.47492	0.563000	0.77884	CGC		0.438	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157184.1	NM_178509	
CBX2	84733	broad.mit.edu	37	17	77758112	77758112	+	Silent	SNP	G	G	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr17:77758112G>A	ENST00000310942.4	+	5	974	c.870G>A	c.(868-870)ctG>ctA	p.L290L		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	290					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|development of primary sexual characteristics (GO:0045137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGCTGGACCTGAAGGTGAGGA	0.637																																						uc002jxc.2																			0					0						c.(868-870)CTG>CTA		chromobox homolog 2 isoform 1							30.0	30.0	30.0					17																	77758112		2201	4300	6501	SO:0001819	synonymous_variant	84733				cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding	g.chr17:77758112G>A	BC004252, BG354579	CCDS11764.1, CCDS32757.1	17q25.3	2010-07-06	2010-06-24		ENSG00000173894	ENSG00000173894			1552	protein-coding gene	gene with protein product	"""Pc class homolog (Drosophila)"""	602770	"""chromobox homolog 2 (Drosophila Pc class)"", ""cell division cycle associated 6"""	CDCA6		7782071, 2477932	Standard	NM_005189		Approved	MGC10561	uc002jxc.3	Q14781		ENST00000310942.4:c.870G>A	17.37:g.77758112G>A							p.L290L	NM_005189	NP_005180	Q14781	CBX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	912	+			290					Q0VDA5|Q9BTB1	Silent	SNP	ENST00000310942.4	37	c.870G>A	CCDS32757.1																																																																																				0.637	CBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437040.1	NM_032647	
SPPL2B	56928	broad.mit.edu	37	19	2339146	2339146	+	RNA	SNP	A	A	G			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr19:2339146A>G	ENST00000452401.2	+	0	618							Q8TCT7	SPP2B_HUMAN	signal peptide peptidase like 2B						membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	endosome membrane (GO:0010008)|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)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)						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)		CATCATCTTCATCATGGCTGT	0.632																																						uc002lvs.2																			0					0						c.(538-540)ATC>GTC		signal peptide peptidase-like 2B isoform 2							37.0	44.0	41.0					19																	2339146		2188	4286	6474			56928					Golgi membrane|integral to membrane	aspartic-type endopeptidase activity	g.chr19:2339146A>G		CCDS74252.1, CCDS74253.1	19p13.3	2012-02-21			ENSG00000005206	ENSG00000005206			30627	protein-coding gene	gene with protein product	"""intramembrane protease 4"""	608239				10819331	Standard	NM_001077238		Approved	IMP4, PSL1, KIAA1532	uc002lvs.3	Q8TCT7			19.37:g.2339146A>G						SPPL2B_uc010dsw.1_Missense_Mutation_p.I152V|SPPL2B_uc010dsy.1_Missense_Mutation_p.I152V|SPPL2B_uc010dsz.1_Missense_Mutation_p.I180V|SPPL2B_uc002lvr.2_Missense_Mutation_p.I180V|SPPL2B_uc010dta.1_Missense_Mutation_p.I33V|SPPL2B_uc002lvu.2_5'Flank	p.I180V	NM_152988	NP_694533	Q8TCT7	PSL1_HUMAN		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)	5	618	+		Hepatocellular(1079;0.137)	180			Helical; (Potential).		D6W609|O60365|Q567S3|Q8IUH9|Q9BUY6|Q9H3M4|Q9NPN2|Q9P1Z6	Missense_Mutation	SNP	ENST00000452401.2	37	c.538A>G		.	.	.	.	.	.	.	.	.	.	A	5.506	0.278310	0.10403	.	.	ENSG00000005206	ENST00000452401;ENST00000382189	.	.	.	3.83	-2.91	0.05631	.	0.655627	0.15611	N	0.253352	T	0.18759	0.0450	N	0.17674	0.51	0.22096	N	0.999366	B;B;B;B;B;B	0.10296	0.003;0.001;0.002;0.002;0.002;0.001	B;B;B;B;B;B	0.15052	0.012;0.001;0.003;0.003;0.004;0.001	T	0.22765	-1.0207	8	0.15499	T	0.54	-25.5044	3.4699	0.07563	0.2723:0.1366:0.4575:0.1336	.	180;180;180;180;180;180	Q8TCT7-4;A6NFV1;Q8TCT7-3;Q8TCT7-2;Q8TCT7;C9JFE6	.;.;.;.;PSL1_HUMAN;.	V	180	.	ENSP00000371624:I180V	I	+	1	0	AC004410.1	2290146	0.007000	0.16637	0.976000	0.42696	0.908000	0.53690	-0.728000	0.04925	-0.866000	0.04068	0.448000	0.29417	ATC		0.632	SPPL2B-202	KNOWN	basic	processed_transcript	processed_transcript		NM_020172	
FBXL12	54850	broad.mit.edu	37	19	9921852	9921852	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr19:9921852C>T	ENST00000247977.4	-	3	942	c.701G>A	c.(700-702)cGg>cAg	p.R234Q	FBXL12_ENST00000585379.1_Missense_Mutation_p.R181Q|FBXL12_ENST00000591009.1_Missense_Mutation_p.R181Q|FBXL12_ENST00000589626.1_3'UTR|FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000586651.1_3'UTR	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	234					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						CACGGTCAGCCGGATCTTGCG	0.667																																						uc002mme.2																			0				lung(1)|kidney(1)	2						c.(700-702)CGG>CAG		F-box and leucine-rich repeat protein 12							28.0	30.0	30.0					19																	9921852		2203	4300	6503	SO:0001583	missense	54850						protein binding	g.chr19:9921852C>T	AK000195	CCDS12218.1	19p13.2	2011-06-09				ENSG00000127452		"""F-boxes / Leucine-rich repeats"""	13611	protein-coding gene	gene with protein product		609079				10531037	Standard	XM_005259964		Approved	FLJ20188, Fbl12	uc002mme.3	Q9NXK8		ENST00000247977.4:c.701G>A	19.37:g.9921852C>T	ENSP00000247977:p.Arg234Gln					FBXL12_uc002mmd.2_Missense_Mutation_p.R181Q|FBXL12_uc002mmf.2_Missense_Mutation_p.R181Q|FBXL12_uc002mmg.2_Missense_Mutation_p.R181Q|FBXL12_uc002mmh.2_Missense_Mutation_p.R181Q	p.R234Q	NM_017703	NP_060173	Q9NXK8	FXL12_HUMAN			3	943	-			234			LRR 6.		B3KSJ8|Q9H5K4	Missense_Mutation	SNP	ENST00000247977.4	37	c.701G>A	CCDS12218.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.530312	0.27387	.	.	ENSG00000127452	ENST00000247977	T	0.17213	2.29	4.55	1.01	0.19927	.	0.479509	0.18270	N	0.146350	T	0.06325	0.0163	N	0.08118	0	0.09310	N	1	D	0.59357	0.985	B	0.38378	0.272	T	0.35992	-0.9766	9	.	.	.	.	7.4906	0.27460	0.1792:0.4745:0.3463:0.0	.	234	Q9NXK8	FXL12_HUMAN	Q	234	ENSP00000247977:R234Q	.	R	-	2	0	FBXL12	9782852	0.923000	0.31300	0.180000	0.23079	0.967000	0.64934	1.768000	0.38511	0.649000	0.30751	0.563000	0.77884	CGG		0.667	FBXL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450265.1	NM_017703	
S1PR5	53637	broad.mit.edu	37	19	10625052	10625052	+	Silent	SNP	G	G	A	rs189645975		TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr19:10625052G>A	ENST00000439028.3	-	2	761	c.636C>T	c.(634-636)taC>taT	p.Y212Y	S1PR5_ENST00000333430.4_Silent_p.Y212Y	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	212					regulation of neuron differentiation (GO:0045664)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12					Fingolimod(DB08868)	AGATGCGCGCGTAGAGTGCAC	0.697													G|||	1	0.000199681	0.0	0.0	5008	,	,		14120	0.0		0.001	False		,,,				2504	0.0					uc002mot.1																			0				central_nervous_system(1)|pancreas(1)	2						c.(634-636)TAC>TAT		endothelial differentiation, sphingolipid		G	,	0,4384		0,0,2192	22.0	19.0	20.0		636,636	-5.4	0.2	19		20	1,8581		0,1,4290	no	coding-synonymous,coding-synonymous	S1PR5	NM_001166215.1,NM_030760.4	,	0,1,6482	AA,AG,GG		0.0117,0.0,0.0077	,	212/399,212/399	10625052	1,12965	2192	4291	6483	SO:0001819	synonymous_variant	53637					integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:10625052G>A	AK074661	CCDS12240.1	19p13.2	2012-08-08	2008-04-30	2008-04-30		ENSG00000180739		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	14299	protein-coding gene	gene with protein product		605146	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 8"""	EDG8		10799507	Standard	NM_030760		Approved	Edg-8	uc002mou.2	Q9H228		ENST00000439028.3:c.636C>T	19.37:g.10625052G>A						S1PR5_uc002mou.1_Silent_p.Y212Y	p.Y212Y	NM_030760	NP_110387	Q9H228	S1PR5_HUMAN			2	693	-			212			Helical; Name=5; (By similarity).		Q6NW11	Silent	SNP	ENST00000439028.3	37	c.636C>T	CCDS12240.1																																																																																				0.697	S1PR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452015.1	NM_030760	
USHBP1	83878	broad.mit.edu	37	19	17361108	17361108	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr19:17361108C>T	ENST00000252597.3	-	13	2211	c.2038G>A	c.(2038-2040)Gaa>Aaa	p.E680K	AC010646.3_ENST00000594059.1_Intron|USHBP1_ENST00000431146.2_Missense_Mutation_p.E616K	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 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						GCAGTGGCTTCGAGCACCGCC	0.657																																						uc002nfs.1																			0				ovary(1)	1						c.(2038-2040)GAA>AAA		Usher syndrome 1C binding protein 1							35.0	33.0	34.0					19																	17361108		2203	4300	6503	SO:0001583	missense	83878						PDZ domain binding	g.chr19:17361108C>T	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.2038G>A	19.37:g.17361108C>T	ENSP00000252597:p.Glu680Lys					USHBP1_uc002nfr.1_Missense_Mutation_p.E306K|USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Missense_Mutation_p.E616K	p.E680K	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN			13	2151	-			680			Potential.			Missense_Mutation	SNP	ENST00000252597.3	37	c.2038G>A	CCDS12353.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.700450	0.30142	.	.	ENSG00000130307	ENST00000252597;ENST00000431146	T;T	0.15487	2.42;2.42	4.57	3.52	0.40303	.	0.571061	0.14216	N	0.333715	T	0.10078	0.0247	L	0.29908	0.895	0.21256	N	0.999746	P;P	0.49253	0.921;0.921	B;B	0.40134	0.32;0.238	T	0.06391	-1.0829	10	0.07990	T	0.79	-3.3959	7.8078	0.29213	0.0:0.8798:0.0:0.1202	.	616;680	B4DUE8;Q8N6Y0	.;USBP1_HUMAN	K	680;616	ENSP00000252597:E680K;ENSP00000407902:E616K	ENSP00000252597:E680K	E	-	1	0	USHBP1	17222108	0.016000	0.18221	0.046000	0.18839	0.312000	0.27988	0.842000	0.27627	0.898000	0.36418	0.561000	0.74099	GAA		0.657	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941	
IRGC	56269	broad.mit.edu	37	19	44223763	44223763	+	Silent	SNP	C	C	T	rs543218904		TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr19:44223763C>T	ENST00000244314.5	+	2	1252	c.1053C>T	c.(1051-1053)tcC>tcT	p.S351S		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	351						membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CCCAGTCGTCCGACGGCGCCA	0.657													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16747	0.0		0.0	False		,,,				2504	0.0				Colon(189;350 2037 11447 13433 38914)	uc002oxh.2																			0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1051-1053)TCC>TCT		immunity-related GTPase family, cinema							38.0	40.0	40.0					19																	44223763		2203	4300	6503	SO:0001819	synonymous_variant	56269					membrane	GTP binding|hydrolase activity, acting on acid anhydrides	g.chr19:44223763C>T	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.1053C>T	19.37:g.44223763C>T							p.S351S	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN			2	1200	+		Prostate(69;0.0435)	351					Q05BR8	Silent	SNP	ENST00000244314.5	37	c.1053C>T	CCDS12629.1																																																																																				0.657	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1	NM_019612	
BCAM	4059	broad.mit.edu	37	19	45322375	45322375	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr19:45322375G>A	ENST00000270233.6	+	11	1421	c.1399G>A	c.(1399-1401)Gac>Aac	p.D467N	BCAM_ENST00000589651.1_Missense_Mutation_p.D467N	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	467	Ig-like C2-type 3.				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)				GAGGGAAGGAGACGAAGTCAC	0.597																																						uc002ozu.2																			0				skin(1)	1						c.(1399-1401)GAC>AAC		basal cell adhesion molecule isoform 1							132.0	142.0	138.0					19																	45322375		2203	4300	6503	SO:0001583	missense	4059				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	g.chr19:45322375G>A	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.1399G>A	19.37:g.45322375G>A	ENSP00000270233:p.Asp467Asn					BCAM_uc002ozt.1_Missense_Mutation_p.D467N	p.D467N	NM_005581	NP_005572	P50895	BCAM_HUMAN			11	1443	+	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)	467			Extracellular (Potential).|Ig-like C2-type 3.		A8MYF9|A9YWT5|A9YWT6|Q86VC7	Missense_Mutation	SNP	ENST00000270233.6	37	c.1399G>A	CCDS12644.1	.	.	.	.	.	.	.	.	.	.	.	13.24	2.177896	0.38413	.	.	ENSG00000187244	ENST00000270233;ENST00000391955	T;T	0.16597	2.33;2.33	4.37	3.31	0.37934	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.27098	0.0664	L	0.49455	1.56	0.09310	N	1	D	0.58620	0.983	P	0.60415	0.874	T	0.08432	-1.0722	9	0.20046	T	0.44	-9.5067	8.9183	0.35596	0.1079:0.0:0.8921:0.0	.	467	P50895	BCAM_HUMAN	N	467	ENSP00000270233:D467N;ENSP00000375817:D467N	ENSP00000270233:D467N	D	+	1	0	BCAM	50014215	0.779000	0.28652	0.098000	0.21074	0.397000	0.30659	3.535000	0.53575	0.959000	0.37980	0.478000	0.44815	GAC		0.597	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581	
RELB	5971	broad.mit.edu	37	19	45515222	45515222	+	Silent	SNP	C	C	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr19:45515222C>T	ENST00000221452.8	+	4	342	c.192C>T	c.(190-192)aaC>aaT	p.N64N	RELB_ENST00000505236.1_Silent_p.N61N|RELB_ENST00000540120.1_Silent_p.N64N	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	64	Leucine-zipper.				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)			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)		TCAAGGAGAACGGCTTCGGCC	0.577																																						uc002paj.1																			0				ovary(1)	1						c.(190-192)AAC>AAT		reticuloendotheliosis viral oncogene homolog B							12.0	13.0	13.0					19																	45515222		1793	3853	5646	SO:0001819	synonymous_variant	5971					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:45515222C>T	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.192C>T	19.37:g.45515222C>T							p.N64N	NM_006509	NP_006500	Q01201	RELB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00986)	5	318	+		Ovarian(192;0.0728)|all_neural(266;0.112)	64			Leucine-zipper.		Q6GTX7|Q9UEI7	Silent	SNP	ENST00000221452.8	37	c.192C>T	CCDS46110.1																																																																																				0.577	RELB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000367361.2		
SPATS2L	26010	broad.mit.edu	37	2	201332021	201332021	+	Silent	SNP	C	C	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr2:201332021C>T	ENST00000358677.5	+	10	1103	c.856C>T	c.(856-858)Ctg>Ttg	p.L286L	SPATS2L_ENST00000409151.1_Silent_p.L294L|SPATS2L_ENST00000409755.3_Silent_p.L316L|SPATS2L_ENST00000409718.1_Silent_p.L286L|SPATS2L_ENST00000360760.5_Silent_p.L217L|SPATS2L_ENST00000409988.3_Silent_p.L286L|SPATS2L_ENST00000451764.2_Silent_p.L286L|SPATS2L_ENST00000409140.3_Silent_p.L286L|SPATS2L_ENST00000409385.1_Silent_p.L226L	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	286						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						AGTGGAAATCCTGACTGCTCG	0.438																																						uc002uvn.3																			0				ovary(2)|pancreas(1)	3						c.(856-858)CTG>TTG		SPATS2-like protein isoform a							60.0	57.0	58.0					2																	201332021		1913	4140	6053	SO:0001819	synonymous_variant	26010					cytoplasm|nucleolus		g.chr2:201332021C>T	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.856C>T	2.37:g.201332021C>T						SPATS2L_uc010fst.2_Silent_p.L286L|SPATS2L_uc002uvo.3_Silent_p.L226L|SPATS2L_uc002uvp.3_Silent_p.L286L|SPATS2L_uc002uvq.3_Silent_p.L217L|SPATS2L_uc002uvr.3_Silent_p.L286L|SPATS2L_uc010zhc.1_Silent_p.L316L	p.L286L	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN			10	1208	+			286			Potential.		A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Silent	SNP	ENST00000358677.5	37	c.856C>T	CCDS46483.1																																																																																				0.438	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336208.3	NM_015535	
RAPH1	65059	broad.mit.edu	37	2	204320201	204320201	+	Nonsense_Mutation	SNP	G	G	A	rs541215148		TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr2:204320201G>A	ENST00000319170.5	-	9	1560	c.1261C>T	c.(1261-1263)Cga>Tga	p.R421*	RAPH1_ENST00000423104.1_Nonsense_Mutation_p.R448*|RAPH1_ENST00000374493.3_Nonsense_Mutation_p.R473*|RAPH1_ENST00000419464.1_Nonsense_Mutation_p.R421*|RAPH1_ENST00000439222.1_Nonsense_Mutation_p.R446*|RAPH1_ENST00000418114.1_Nonsense_Mutation_p.R421*|RAPH1_ENST00000374489.2_Nonsense_Mutation_p.R448*|RAPH1_ENST00000453034.1_Nonsense_Mutation_p.R473*|RAPH1_ENST00000457812.1_Nonsense_Mutation_p.R421*|RAPH1_ENST00000374488.2_Nonsense_Mutation_p.R446*|RAPH1_ENST00000308091.4_Nonsense_Mutation_p.R473*	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	421	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)				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						CCAGATGCTCGCAAGAGAAAA	0.383																																						uc002vad.2																			0				ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1)	10						c.(1261-1263)CGA>TGA		Ras association and pleckstrin homology domains							146.0	146.0	146.0					2																	204320201		2203	4300	6503	SO:0001587	stop_gained	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204320201G>A	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.1261C>T	2.37:g.204320201G>A	ENSP00000316543:p.Arg421*					RAPH1_uc002vae.2_Nonsense_Mutation_p.R473*|RAPH1_uc002vaf.2_Nonsense_Mutation_p.R473*	p.R421*	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN			9	1486	-			421			PH.		Q96Q37|Q9C0I2	Nonsense_Mutation	SNP	ENST00000319170.5	37	c.1261C>T	CCDS2359.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804315	0.90623	.	.	ENSG00000173166	ENST00000457812;ENST00000319170;ENST00000374493;ENST00000374489;ENST00000374488;ENST00000308091;ENST00000439222;ENST00000419464;ENST00000423104;ENST00000453034;ENST00000432342;ENST00000418114;ENST00000413201	.	.	.	5.55	-0.0397	0.13875	.	0.000000	0.40222	N	0.001153	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.3466	15.9791	0.80094	0.0:0.0:0.4223:0.5777	.	.	.	.	X	421;421;473;448;446;473;446;421;448;473;446;421;448	.	ENSP00000311293:R473X	R	-	1	2	RAPH1	204028446	1.000000	0.71417	0.926000	0.36857	0.997000	0.91878	2.501000	0.45389	0.052000	0.16007	0.655000	0.94253	CGA		0.383	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252	
DGKD	8527	broad.mit.edu	37	2	234344488	234344488	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr2:234344488G>A	ENST00000264057.2	+	6	623	c.611G>A	c.(610-612)cGc>cAc	p.R204H	DGKD_ENST00000409813.3_Missense_Mutation_p.R160H	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	204					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)	GCCCACAAGCGCTGTGCTGTG	0.507																																						uc002vui.1																			0				central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5						c.(610-612)CGC>CAC		diacylglycerol kinase, delta 130kDa isoform 2	Phosphatidylserine(DB00144)						123.0	110.0	115.0					2																	234344488		2203	4300	6503	SO:0001583	missense	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234344488G>A	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.611G>A	2.37:g.234344488G>A	ENSP00000264057:p.Arg204His					DGKD_uc002vuj.1_Missense_Mutation_p.R160H|DGKD_uc010fyh.1_Missense_Mutation_p.R71H|DGKD_uc010fyi.1_5'Flank|DGKD_uc002vuk.1_Missense_Mutation_p.R71H	p.R204H	NM_152879	NP_690618	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	6	623	+		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)	204			Phorbol-ester/DAG-type 1.		Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	ENST00000264057.2	37	c.611G>A	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	G	33	5.284641	0.95517	.	.	ENSG00000077044	ENST00000264057;ENST00000427930;ENST00000409813	D;D;D	0.93604	-3.25;-3.25;-3.25	4.44	4.44	0.53790	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.166436	0.38720	N	0.001583	D	0.96128	0.8738	M	0.67953	2.075	0.80722	D	1	D;D;D;D	0.89917	0.995;1.0;1.0;0.981	P;D;D;P	0.83275	0.884;0.996;0.996;0.626	D	0.96464	0.9343	10	0.66056	D	0.02	.	17.6674	0.88207	0.0:0.0:1.0:0.0	.	88;140;160;204	Q53SE4;C9JY42;Q16760-2;Q16760	.;.;.;DGKD_HUMAN	H	204;140;160	ENSP00000264057:R204H;ENSP00000407938:R140H;ENSP00000386455:R160H	ENSP00000264057:R204H	R	+	2	0	DGKD	234009227	1.000000	0.71417	0.621000	0.29145	0.983000	0.72400	9.125000	0.94402	2.489000	0.83994	0.655000	0.94253	CGC		0.507	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648	
COL6A3	1293	broad.mit.edu	37	2	238305417	238305417	+	Missense_Mutation	SNP	A	A	G			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr2:238305417A>G	ENST00000295550.4	-	2	496	c.44T>C	c.(43-45)cTc>cCc	p.L15P	COL6A3_ENST00000346358.4_Missense_Mutation_p.L15P|COL6A3_ENST00000472056.1_Missense_Mutation_p.L15P|COL6A3_ENST00000347401.3_Missense_Mutation_p.L15P|COL6A3_ENST00000409809.1_Missense_Mutation_p.L15P|COL6A3_ENST00000353578.4_Missense_Mutation_p.L15P|COL6A3_ENST00000392004.3_Missense_Mutation_p.L15P|COL6A3_ENST00000392003.2_Missense_Mutation_p.L15P	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	15					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)		TGAGAGAAAGAGGCAAAAGAC	0.423																																						uc002vwl.2																			0				ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(43-45)CTC>CCC		alpha 3 type VI collagen isoform 1 precursor							117.0	121.0	120.0					2																	238305417		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238305417A>G	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.44T>C	2.37:g.238305417A>G	ENSP00000295550:p.Leu15Pro					COL6A3_uc002vwo.2_Missense_Mutation_p.L15P|COL6A3_uc010znj.1_Missense_Mutation_p.L15P|COL6A3_uc002vwq.2_Missense_Mutation_p.L15P|COL6A3_uc002vwr.2_Missense_Mutation_p.L15P|COL6A3_uc010znk.1_Missense_Mutation_p.L15P	p.L15P	NM_004369	NP_004360	P12111	CO6A3_HUMAN		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)	2	329	-		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)	15					A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.44T>C	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.201836	0.79015	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003;ENST00000433762	T;T;T;D;T;T;T;T;T	0.88975	-1.17;-1.17;-1.2;-2.45;-1.2;-1.17;-1.2;-0.1;-1.17	5.46	5.46	0.80206	.	0.000000	0.46758	D	0.000266	D	0.93400	0.7895	M	0.66939	2.045	0.49798	D	0.999821	D;D;P;D;D;D	0.89917	0.992;0.996;0.951;1.0;1.0;0.989	P;P;P;D;D;P	0.97110	0.844;0.844;0.616;0.999;1.0;0.786	D	0.94042	0.7310	10	0.87932	D	0	.	14.109	0.65111	1.0:0.0:0.0:0.0	.	15;15;15;15;15;15	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	P	15	ENSP00000295550:L15P;ENSP00000315609:L15P;ENSP00000315873:L15P;ENSP00000418285:L15P;ENSP00000386844:L15P;ENSP00000295546:L15P;ENSP00000375861:L15P;ENSP00000375860:L15P;ENSP00000389539:L15P	ENSP00000295550:L15P	L	-	2	0	COL6A3	237970156	1.000000	0.71417	0.977000	0.42913	0.847000	0.48162	6.158000	0.71851	2.071000	0.62044	0.528000	0.53228	CTC		0.423	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	80								p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363																																						uc010ztl.1																			8	Substitution - Missense(8)		prostate(4)|kidney(4)		0						c.(148-150)GCT>CCT		Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA.																																				SO:0001583	missense	284802							g.chr20:29628236G>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.238G>C	20.37:g.29628236G>C	ENSP00000278882:p.Ala80Pro					FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Missense_Mutation_p.A2P	p.A50P							3	180	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.148G>C		.	.	.	.	.	.	.	.	.	.	g	15.73	2.920277	0.52653	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.57595	0.39	2.08	2.08	0.27032	Actin cross-linking (1);	0.052409	0.85682	D	0.000000	T	0.68952	0.3057	.	.	.	0.80722	D	1	D;D	0.64830	0.994;0.988	D;D	0.85130	0.997;0.993	T	0.72766	-0.4194	9	0.87932	D	0	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	85;80	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	P	80;85;80	ENSP00000408863:A85P	ENSP00000278882:A80P	A	+	1	0	FRG1B	28241897	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	
ID1	3397	broad.mit.edu	37	20	30193855	30193855	+	Splice_Site	SNP	G	G	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr20:30193855G>A	ENST00000376112.3	+	2	531		c.e2-1		MIR3193_ENST00000578262.1_RNA|ID1_ENST00000376105.3_3'UTR	NM_002165.3	NP_002156.2	P41134	ID1_HUMAN	inhibitor of DNA binding 1, dominant negative helix-loop-helix protein						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)			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)			CGTTTTCACAGGCGGCATGCG	0.652																																					NSCLC(123;1618 1779 21803 28680 33854)	uc002wwg.1																			0				ovary(1)	1						c.e2-1		inhibitor of DNA binding 1 isoform a							45.0	46.0	46.0					20																	30193855		2203	4300	6503	SO:0001630	splice_region_variant	3397				angiogenesis|blood vessel endothelial cell migration|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by transcription factor localization|transforming growth factor beta receptor signaling pathway	cytoplasm	protein binding	g.chr20:30193855G>A		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.427-1G>A	20.37:g.30193855G>A						ID1_uc002wwh.1_3'UTR|hsa-mir-3193|MI0014238_5'Flank	p.A143_splice	NM_002165	NP_002156	P41134	ID1_HUMAN	Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)		2	526	+	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)							A8K537|E1P5L4|O00651|O00652|Q16371|Q16377|Q5TE66|Q5TE67|Q969Z7|Q9H0Z5|Q9H109	Splice_Site	SNP	ENST00000376112.3	37	c.427_splice	CCDS13185.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.548105	0.45383	.	.	ENSG00000125968	ENST00000376112	.	.	.	4.85	3.9	0.45041	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.1214	0.36788	0.0986:0.0:0.9014:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ID1	29657516	0.948000	0.32251	0.995000	0.50966	0.303000	0.27691	2.358000	0.44134	1.270000	0.44297	0.555000	0.69702	.		0.652	ID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078550.1	NM_002165	Intron
EVA1C	59271	broad.mit.edu	37	21	33876254	33876254	+	Missense_Mutation	SNP	G	G	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr21:33876254G>T	ENST00000300255.2	+	7	1351	c.878G>T	c.(877-879)aGc>aTc	p.S293I	EVA1C_ENST00000485488.1_3'UTR|EVA1C_ENST00000382699.3_Missense_Mutation_p.S290I|EVA1C_ENST00000401402.3_Missense_Mutation_p.S245I	NM_058187.3	NP_478067.2	P58658	EVA1C_HUMAN	eva-1 homolog C (C. elegans)	293						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										TTCGACCCAAGCGGATCGAAG	0.433																																						uc002ypr.1																			0				ovary(2)|pancreas(1)	3						c.(877-879)AGC>ATC		hypothetical protein LOC59271 precursor							132.0	128.0	129.0					21																	33876254		2203	4300	6503	SO:0001583	missense	59271					integral to membrane	sugar binding	g.chr21:33876254G>T	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.878G>T	21.37:g.33876254G>T	ENSP00000300255:p.Ser293Ile					C21orf63_uc002yps.1_RNA|C21orf63_uc010glw.1_Missense_Mutation_p.S290I|C21orf63_uc002ypt.1_RNA|C21orf63_uc002ypu.1_Missense_Mutation_p.S198I|C21orf63_uc011adq.1_5'UTR	p.S293I	NM_058187	NP_478067	P58658	CU063_HUMAN			7	1288	+			293			Extracellular (Potential).		A6ND58|Q8IXZ0	Missense_Mutation	SNP	ENST00000300255.2	37	c.878G>T	CCDS13614.1	.	.	.	.	.	.	.	.	.	.	G	1.701	-0.501507	0.04261	.	.	ENSG00000166979	ENST00000300255;ENST00000401402;ENST00000382699	T;T;T	0.08546	3.09;3.08;3.11	4.73	2.92	0.33932	.	0.732413	0.14475	N	0.317318	T	0.09291	0.0229	L	0.51422	1.61	0.09310	N	1	B;B	0.17268	0.021;0.004	B;B	0.15052	0.012;0.002	T	0.24154	-1.0168	10	0.37606	T	0.19	-14.5393	9.9976	0.41909	0.2296:0.0:0.7704:0.0	.	290;293	A6ND58;P58658	.;CU063_HUMAN	I	293;245;290	ENSP00000300255:S293I;ENSP00000384594:S245I;ENSP00000372146:S290I	ENSP00000300255:S293I	S	+	2	0	C21orf63	32798125	0.384000	0.25164	0.273000	0.24645	0.125000	0.20455	1.884000	0.39668	0.436000	0.26393	-0.391000	0.06502	AGC		0.433	EVA1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139403.1	NM_058187	
EVA1C	59271	broad.mit.edu	37	21	33876277	33876277	+	Missense_Mutation	SNP	G	G	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr21:33876277G>T	ENST00000300255.2	+	7	1374	c.901G>T	c.(901-903)Gat>Tat	p.D301Y	EVA1C_ENST00000485488.1_3'UTR|EVA1C_ENST00000382699.3_Missense_Mutation_p.D298Y|EVA1C_ENST00000401402.3_Missense_Mutation_p.D253Y	NM_058187.3	NP_478067.2	P58658	EVA1C_HUMAN	eva-1 homolog C (C. elegans)	301						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										TCTGAGGAAAGATGGAATTCT	0.398																																						uc002ypr.1																			0				ovary(2)|pancreas(1)	3						c.(901-903)GAT>TAT		hypothetical protein LOC59271 precursor							144.0	136.0	139.0					21																	33876277		2203	4300	6503	SO:0001583	missense	59271					integral to membrane	sugar binding	g.chr21:33876277G>T	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.901G>T	21.37:g.33876277G>T	ENSP00000300255:p.Asp301Tyr					C21orf63_uc002yps.1_RNA|C21orf63_uc010glw.1_Missense_Mutation_p.D298Y|C21orf63_uc002ypt.1_RNA|C21orf63_uc002ypu.1_Missense_Mutation_p.D206Y|C21orf63_uc011adq.1_5'UTR	p.D301Y	NM_058187	NP_478067	P58658	CU063_HUMAN			7	1311	+			301			Extracellular (Potential).		A6ND58|Q8IXZ0	Missense_Mutation	SNP	ENST00000300255.2	37	c.901G>T	CCDS13614.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.381137	0.61845	.	.	ENSG00000166979	ENST00000300255;ENST00000401402;ENST00000382699	T;T;T	0.10860	2.86;2.83;2.86	4.73	4.73	0.59995	.	0.387908	0.29119	N	0.013095	T	0.23727	0.0574	M	0.78049	2.395	0.52099	D	0.999946	P;B	0.35033	0.481;0.405	B;B	0.41946	0.371;0.309	T	0.05273	-1.0895	10	0.72032	D	0.01	-10.3423	17.696	0.88282	0.0:0.0:1.0:0.0	.	298;301	A6ND58;P58658	.;CU063_HUMAN	Y	301;253;298	ENSP00000300255:D301Y;ENSP00000384594:D253Y;ENSP00000372146:D298Y	ENSP00000300255:D301Y	D	+	1	0	C21orf63	32798148	1.000000	0.71417	0.981000	0.43875	0.822000	0.46500	6.369000	0.73109	2.176000	0.68965	0.455000	0.32223	GAT		0.398	EVA1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139403.1	NM_058187	
NCAPG	64151	broad.mit.edu	37	4	17825349	17825349	+	Missense_Mutation	SNP	A	A	G			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr4:17825349A>G	ENST00000251496.2	+	9	1515	c.1339A>G	c.(1339-1341)Aga>Gga	p.R447G		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	447					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)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		TCTTGTTGAAAGACTACTCCA	0.323																																						uc003gpp.2																			0				large_intestine(1)	1						c.(1339-1341)AGA>GGA		chromosome condensation protein G							74.0	76.0	75.0					4																	17825349		2203	4295	6498	SO:0001583	missense	64151				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding	g.chr4:17825349A>G	AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"""chromosome condensation protein G"""	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.1339A>G	4.37:g.17825349A>G	ENSP00000251496:p.Arg447Gly					NCAPG_uc011bxj.1_5'UTR	p.R447G	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN		STAD - Stomach adenocarcinoma(129;0.18)	9	1515	+			447			HEAT 7.		Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	ENST00000251496.2	37	c.1339A>G	CCDS3424.1	.	.	.	.	.	.	.	.	.	.	A	13.00	2.107289	0.37145	.	.	ENSG00000109805	ENST00000251496;ENST00000510063	T;T	0.47869	1.5;0.83	4.81	0.66	0.17868	Armadillo-type fold (1);	0.118436	0.64402	D	0.000002	T	0.38054	0.1026	M	0.62723	1.935	0.32930	D	0.516997	P	0.34800	0.469	B	0.33042	0.157	T	0.43327	-0.9398	10	0.23891	T	0.37	-9.8538	8.23	0.31593	0.4728:0.3991:0.0:0.1281	.	447	Q9BPX3	CND3_HUMAN	G	447;10	ENSP00000251496:R447G;ENSP00000425625:R10G	ENSP00000251496:R447G	R	+	1	2	NCAPG	17434447	0.993000	0.37304	0.827000	0.32855	0.606000	0.37113	2.975000	0.49281	0.039000	0.15632	0.533000	0.62120	AGA		0.323	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1	NM_022346	
GC	2638	broad.mit.edu	37	4	72620754	72620754	+	Missense_Mutation	SNP	G	G	C			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr4:72620754G>C	ENST00000273951.8	-	9	1448	c.1105C>G	c.(1105-1107)Cta>Gta	p.L369V	GC_ENST00000504199.1_Missense_Mutation_p.L388V|GC_ENST00000513476.1_Missense_Mutation_p.L369V|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)	369	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)	AGGCTTTTTAGGGTTGGCTCA	0.388																																						uc003hge.2																			0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(1105-1107)CTA>GTA		vitamin D-binding protein precursor	Cholecalciferol(DB00169)						137.0	128.0	131.0					4																	72620754		2203	4300	6503	SO:0001583	missense	2638				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	g.chr4:72620754G>C	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.1105C>G	4.37:g.72620754G>C	ENSP00000273951:p.Leu369Val					GC_uc003hgd.2_Missense_Mutation_p.L247V|GC_uc010iie.2_Missense_Mutation_p.L369V|GC_uc010iif.2_Missense_Mutation_p.L388V	p.L369V	NM_000583	NP_000574	P02774	VTDB_HUMAN	Lung(101;0.148)		9	1258	-		all_hematologic(202;0.107)	369			Albumin 2.		B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Missense_Mutation	SNP	ENST00000273951.8	37	c.1105C>G	CCDS3550.1	.	.	.	.	.	.	.	.	.	.	G	2.900	-0.227693	0.06022	.	.	ENSG00000145321	ENST00000273951;ENST00000504199;ENST00000513476	T;T;T	0.72942	-0.7;-0.7;-0.7	4.81	3.9	0.45041	.	0.394253	0.23662	N	0.045803	T	0.62134	0.2403	L	0.55481	1.735	0.29209	N	0.874718	B;B	0.15141	0.012;0.008	B;B	0.11329	0.006;0.005	T	0.53556	-0.8422	10	0.29301	T	0.29	.	9.7904	0.40702	0.0:0.0:0.7949:0.2051	.	388;369	D6RAK8;D6RF35	.;.	V	369;388;369	ENSP00000273951:L369V;ENSP00000421725:L388V;ENSP00000426683:L369V	ENSP00000273951:L369V	L	-	1	2	GC	72839618	0.281000	0.24258	1.000000	0.80357	0.103000	0.19146	0.138000	0.16016	2.635000	0.89317	0.561000	0.74099	CTA		0.388	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252167.2		
C4orf22	255119	broad.mit.edu	37	4	81504250	81504250	+	Silent	SNP	G	G	A	rs141410009	byFrequency	TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr4:81504250G>A	ENST00000358105.3	+	3	295	c.246G>A	c.(244-246)acG>acA	p.T82T	C4orf22_ENST00000508675.1_Silent_p.T82T|C4orf22_ENST00000512931.1_3'UTR	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	82										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						TTTACAGGACGCTAACAAGTG	0.383													G|||	4	0.000798722	0.003	0.0	5008	,	,		12505	0.0		0.0	False		,,,				2504	0.0					uc003hmf.2																			0				skin(2)	2						c.(244-246)ACG>ACA		hypothetical protein LOC255119		G	,	1,4405	2.1+/-5.4	0,1,2202	72.0	73.0	72.0		246,246	-3.9	0.4	4	dbSNP_134	72	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	C4orf22	NM_001206997.1,NM_152770.2	,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,	82/251,82/234	81504250	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	255119							g.chr4:81504250G>A	BC034296	CCDS3587.1, CCDS56336.1	4q21.21	2008-02-05			ENSG00000197826	ENSG00000197826			28554	protein-coding gene	gene with protein product						12477932	Standard	NM_152770		Approved		uc010ijp.3	Q6V702	OTTHUMG00000130289	ENST00000358105.3:c.246G>A	4.37:g.81504250G>A						C4orf22_uc010ijp.2_Silent_p.T82T	p.T82T	NM_152770	NP_689983	Q6V702	CD022_HUMAN			3	295	+			82					E7EQ13|Q6ZQY4|Q8N4G9	Silent	SNP	ENST00000358105.3	37	c.246G>A	CCDS3587.1																																																																																				0.383	C4orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252629.2	NM_152770	
PRKG2	5593	broad.mit.edu	37	4	82125882	82125882	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr4:82125882C>T	ENST00000395578.1	-	2	436	c.320G>A	c.(319-321)cGg>cAg	p.R107Q	PRKG2_ENST00000418486.2_Missense_Mutation_p.R107Q|PRKG2_ENST00000264399.1_Missense_Mutation_p.R107Q			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	107					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						AGAGGTCTTCCGGTGGACCTC	0.562																																						uc003hmh.2																			0				breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7						c.(319-321)CGG>CAG		protein kinase, cGMP-dependent, type II							117.0	130.0	126.0					4																	82125882		2203	4300	6503	SO:0001583	missense	5593				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr4:82125882C>T	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.320G>A	4.37:g.82125882C>T	ENSP00000378945:p.Arg107Gln					PRKG2_uc011cch.1_Missense_Mutation_p.R107Q	p.R107Q	NM_006259	NP_006250	Q13237	KGP2_HUMAN			1	334	-			107					B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	ENST00000395578.1	37	c.320G>A	CCDS3589.1	.	.	.	.	.	.	.	.	.	.	C	9.461	1.093127	0.20471	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486	T;T;T	0.69175	-0.26;-0.26;-0.38	5.18	5.18	0.71444	.	0.264428	0.34986	N	0.003531	T	0.44180	0.1281	N	0.08118	0	0.80722	D	1	B;B	0.17268	0.021;0.009	B;B	0.08055	0.003;0.0	T	0.37957	-0.9683	10	0.13108	T	0.6	-13.5773	14.0706	0.64856	0.0:1.0:0.0:0.0	.	107;107	E7EPE6;Q13237	.;KGP2_HUMAN	Q	107	ENSP00000378945:R107Q;ENSP00000264399:R107Q;ENSP00000389038:R107Q	ENSP00000264399:R107Q	R	-	2	0	PRKG2	82344906	0.986000	0.35501	0.993000	0.49108	0.422000	0.31414	1.759000	0.38420	2.690000	0.91761	0.585000	0.79938	CGG		0.562	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259	
ADCY2	108	broad.mit.edu	37	5	7709333	7709333	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr5:7709333C>T	ENST00000338316.4	+	10	1500	c.1411C>T	c.(1411-1413)Cgg>Tgg	p.R471W	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Missense_Mutation_p.R291W	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	471					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						GGGAGAACGACGGAGCCCCCA	0.587																																						uc003jdz.1																			0				ovary(5)|pancreas(1)|skin(1)	7						c.(1411-1413)CGG>TGG		adenylate cyclase 2							63.0	59.0	61.0					5																	7709333		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7709333C>T	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.1411C>T	5.37:g.7709333C>T	ENSP00000342952:p.Arg471Trp					ADCY2_uc011cmo.1_Missense_Mutation_p.R291W	p.R471W	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			10	1478	+			471			Cytoplasmic (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.1411C>T	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	c	18.06	3.539393	0.65085	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;D	0.82167	-1.11;-1.58	5.62	2.72	0.32119	.	0.231720	0.35708	N	0.003037	D	0.82935	0.5145	L	0.42245	1.32	0.32307	N	0.564209	D;D	0.69078	0.997;0.995	P;P	0.57468	0.821;0.757	D	0.84299	0.0504	10	0.72032	D	0.01	.	8.6077	0.33784	0.3958:0.5374:0.0:0.0668	.	291;471	B7Z2C1;Q08462	.;ADCY2_HUMAN	W	471;322;291	ENSP00000342952:R471W;ENSP00000444803:R291W	ENSP00000342952:R471W	R	+	1	2	ADCY2	7762333	0.911000	0.30947	0.623000	0.29173	0.932000	0.56968	1.452000	0.35156	0.704000	0.31869	-0.319000	0.08680	CGG		0.587	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546	
PIK3R1	5295	broad.mit.edu	37	5	67589298	67589298	+	Missense_Mutation	SNP	C	C	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr5:67589298C>A	ENST00000521381.1	+	10	1902	c.1286C>A	c.(1285-1287)tCc>tAc	p.S429Y	PIK3R1_ENST00000523872.1_Missense_Mutation_p.S66Y|PIK3R1_ENST00000274335.5_Missense_Mutation_p.S429Y|PIK3R1_ENST00000396611.1_Missense_Mutation_p.S429Y|PIK3R1_ENST00000521657.1_Missense_Mutation_p.S429Y|PIK3R1_ENST00000320694.8_Missense_Mutation_p.S129Y|PIK3R1_ENST00000336483.5_Missense_Mutation_p.S159Y	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	429					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)	TATCCAGTATCCAAATACCAA	0.318			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												uc003jva.2				Rec	yes		5	5q13.1	5295	Mis|F|O	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			gliobastoma|ovarian|colorectal		2	Whole gene deletion(1)|Unknown(1)	p.?(1)	large_intestine(1)|lung(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101						c.(1285-1287)TCC>TAC		phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)						35.0	36.0	36.0					5																	67589298		2203	4296	6499	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589298C>A	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.1286C>A	5.37:g.67589298C>A	ENSP00000428056:p.Ser429Tyr	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvb.2_Missense_Mutation_p.S429Y|PIK3R1_uc003jvc.2_Missense_Mutation_p.S129Y|PIK3R1_uc003jvd.2_Missense_Mutation_p.S159Y|PIK3R1_uc003jve.2_Missense_Mutation_p.S108Y|PIK3R1_uc011crb.1_Missense_Mutation_p.S99Y	p.S429Y	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	10	1846	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	429					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.1286C>A	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751635	0.89753	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000521409;ENST00000336483;ENST00000519025;ENST00000523872	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	5.34	5.34	0.76211	SH2 motif (1);	0.000000	0.85682	D	0.000000	D	0.83225	0.5208	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	0.83275	0.977;0.996;0.996;0.995	D	0.84984	0.0890	10	0.62326	D	0.03	-16.6312	19.5946	0.95530	0.0:1.0:0.0:0.0	.	99;159;129;429	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	Y	429;429;429;429;129;66;159;102;66	ENSP00000428056:S429Y;ENSP00000429277:S429Y;ENSP00000379855:S429Y;ENSP00000274335:S429Y;ENSP00000323512:S129Y;ENSP00000431058:S66Y;ENSP00000338554:S159Y;ENSP00000429156:S102Y;ENSP00000430098:S66Y	ENSP00000274335:S429Y	S	+	2	0	PIK3R1	67625054	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.609000	0.82925	2.937000	0.99478	0.650000	0.86243	TCC		0.318	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	
PCDHB12	56124	broad.mit.edu	37	5	140588488	140588488	+	Silent	SNP	C	C	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr5:140588488C>T	ENST00000239450.2	+	1	198	c.9C>T	c.(7-9)aaC>aaT	p.N3N	PCDHB12_ENST00000541609.1_5'UTR	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	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(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)			CTATGGAAAACGGAGGGGCAG	0.493																																						uc003liz.2																			0				skin(2)|ovary(1)	3						c.(7-9)AAC>AAT		protocadherin beta 12 precursor							82.0	87.0	85.0					5																	140588488		2203	4300	6503	SO:0001819	synonymous_variant	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140588488C>T	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.9C>T	5.37:g.140588488C>T						PCDHB12_uc011dak.1_Translation_Start_Site	p.N3N	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	198	+			3					B4DDU1	Silent	SNP	ENST00000239450.2	37	c.9C>T	CCDS4254.1																																																																																				0.493	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932	
FOXI1	2299	broad.mit.edu	37	5	169533358	169533358	+	Missense_Mutation	SNP	G	G	C			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr5:169533358G>C	ENST00000306268.6	+	1	458	c.397G>C	c.(397-399)Gcc>Ccc	p.A133P	FOXI1_ENST00000449804.2_Missense_Mutation_p.A133P			Q12951	FOXI1_HUMAN	forkhead box I1	133					embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGCTCTCATCGCCATGGCCAT	0.642									Pendred syndrome																													uc003mai.3																			0				breast(3)|central_nervous_system(1)	4						c.(397-399)GCC>CCC		forkhead box I1 isoform a							33.0	30.0	31.0					5																	169533358		2203	4300	6503	SO:0001583	missense	2299	Pendred_syndrome	Familial Cancer Database	Goiter-Deafness syndrome	epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr5:169533358G>C	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"""Forkhead boxes"""	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.397G>C	5.37:g.169533358G>C	ENSP00000304286:p.Ala133Pro					FOXI1_uc003maj.3_Missense_Mutation_p.A133P	p.A133P	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	442	+	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	133			Fork-head.		Q14518|Q66SR7|Q8N6L8	Missense_Mutation	SNP	ENST00000306268.6	37	c.397G>C	CCDS4372.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.823027	0.90873	.	.	ENSG00000168269	ENST00000306268;ENST00000449804	D;D	0.95756	-3.8;-3.8	5.14	5.14	0.70334	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98454	0.9485	H	0.94771	3.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.99705	1.1005	10	0.87932	D	0	.	18.6358	0.91378	0.0:0.0:1.0:0.0	.	133;133	Q12951-2;Q12951	.;FOXI1_HUMAN	P	133	ENSP00000304286:A133P;ENSP00000415483:A133P	ENSP00000304286:A133P	A	+	1	0	FOXI1	169465936	1.000000	0.71417	0.966000	0.40874	0.913000	0.54294	9.863000	0.99569	2.397000	0.81536	0.650000	0.86243	GCC		0.642	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	NM_144769, NM_012188	
BEND3	57673	broad.mit.edu	37	6	107391897	107391897	+	Silent	SNP	C	C	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr6:107391897C>T	ENST00000369042.1	-	4	688	c.498G>A	c.(496-498)tcG>tcA	p.S166S	BEND3_ENST00000429433.2_Silent_p.S166S			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	166										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GCCGCAGTGACGAGGGGCTGT	0.567																																						uc003prs.2																			0				ovary(3)	3						c.(496-498)TCG>TCA		BEN domain containing 3							95.0	88.0	90.0					6																	107391897		2203	4300	6503	SO:0001819	synonymous_variant	57673							g.chr6:107391897C>T	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.498G>A	6.37:g.107391897C>T							p.S166S	NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN			5	1148	-			166					A2RRH2|Q9HCL9	Silent	SNP	ENST00000369042.1	37	c.498G>A	CCDS34507.1																																																																																				0.567	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	NM_020913	
ANKIB1	54467	broad.mit.edu	37	7	91991520	91991520	+	Missense_Mutation	SNP	T	T	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr7:91991520T>A	ENST00000265742.3	+	10	1795	c.1419T>A	c.(1417-1419)caT>caA	p.H473Q		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	473							zinc ion binding (GO:0008270)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GTGAAGCACATGAGCCTTGTG	0.368																																						uc003ulw.2																			0				lung(1)	1						c.(1417-1419)CAT>CAA		ankyrin repeat and IBR domain containing 1							75.0	69.0	71.0					7																	91991520		1841	4097	5938	SO:0001583	missense	54467						protein binding|zinc ion binding	g.chr7:91991520T>A	AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.1419T>A	7.37:g.91991520T>A	ENSP00000265742:p.His473Gln						p.H473Q	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		10	1795	+	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		473			IBR-type; degenerate.		Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	ENST00000265742.3	37	c.1419T>A	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.198979	0.79015	.	.	ENSG00000001629	ENST00000265742	D	0.89875	-2.58	4.93	1.28	0.21552	Zinc finger, C6HC-type (2);	0.000000	0.85682	D	0.000000	D	0.95004	0.8383	H	0.96398	3.815	0.45087	D	0.998103	D	0.76494	0.999	D	0.73380	0.98	D	0.93085	0.6495	10	0.87932	D	0	.	7.438	0.27166	0.0:0.2495:0.0:0.7505	.	473	Q9P2G1	AKIB1_HUMAN	Q	473	ENSP00000265742:H473Q	ENSP00000265742:H473Q	H	+	3	2	ANKIB1	91829456	0.996000	0.38824	1.000000	0.80357	0.999000	0.98932	0.312000	0.19397	0.326000	0.23384	0.533000	0.62120	CAT		0.368	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1		
PRSS37	136242	broad.mit.edu	37	7	141536273	141536273	+	Missense_Mutation	SNP	G	G	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr7:141536273G>T	ENST00000350549.3	-	5	1001	c.630C>A	c.(628-630)ttC>ttA	p.F210L	PRSS37_ENST00000438520.1_Missense_Mutation_p.F210L	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37	210	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						CCCCTCCCATGAAGTGCCCCA	0.512																																						uc003vws.1																			0				skin(1)	1						c.(628-630)TTC>TTA		protease, serine, 37 precursor							182.0	151.0	161.0					7																	141536273		2203	4300	6503	SO:0001583	missense	136242				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141536273G>T		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.630C>A	7.37:g.141536273G>T	ENSP00000297767:p.Phe210Leu					PRSS37_uc011krk.1_Missense_Mutation_p.F197L|PRSS37_uc011krl.1_Missense_Mutation_p.F209L|PRSS37_uc003vwt.1_Missense_Mutation_p.F197L	p.F210L	NM_001008270	NP_001008271	A4D1T9	PRS37_HUMAN			5	1002	-			210			Peptidase S1.		B2RPB5	Missense_Mutation	SNP	ENST00000350549.3	37	c.630C>A	CCDS34764.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.604419	0.46423	.	.	ENSG00000165076	ENST00000350549;ENST00000438520	D;D	0.88431	-2.38;-2.38	5.28	4.38	0.52667	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000014	D	0.88066	0.6337	L	0.51422	1.61	0.36014	D	0.83829	B;B	0.29766	0.256;0.256	B;B	0.42062	0.374;0.374	D	0.89532	0.3786	10	0.72032	D	0.01	.	9.952	0.41645	0.0937:0.0:0.9063:0.0	.	209;210	B7ZMK3;A4D1T9	.;PRS37_HUMAN	L	210	ENSP00000297767:F210L;ENSP00000414461:F210L	ENSP00000297767:F210L	F	-	3	2	PRSS37	141182742	1.000000	0.71417	1.000000	0.80357	0.442000	0.32017	2.586000	0.46119	2.761000	0.94854	0.585000	0.79938	TTC		0.512	PRSS37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347763.1	NM_001008270	
DOCK5	80005	broad.mit.edu	37	8	25199986	25199986	+	Missense_Mutation	SNP	G	G	C			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr8:25199986G>C	ENST00000276440.7	+	25	2624	c.2580G>C	c.(2578-2580)atG>atC	p.M860I		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	860					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)		TTAACTGCATGACCAAGATAG	0.468																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.2																			0				ovary(3)	3						c.(2578-2580)ATG>ATC		dedicator of cytokinesis 5							107.0	86.0	93.0					8																	25199986		2202	4300	6502	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25199986G>C		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.2580G>C	8.37:g.25199986G>C	ENSP00000276440:p.Met860Ile					DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.M574I|DOCK5_uc003xei.2_Missense_Mutation_p.M430I|DOCK5_uc003xej.2_RNA	p.M860I	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	25	2717	+		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)	860					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.2580G>C	CCDS6047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.71|11.71	1.719505|1.719505	0.30503|0.30503	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000444569|ENST00000276440	.|T	.|0.61392	.|0.11	4.58|4.58	4.58|4.58	0.56647|0.56647	.|Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.41926|0.41926	0.1180|0.1180	L|L	0.29908|0.29908	0.895|0.895	0.54753|0.54753	D|D	0.999983|0.999983	.|B;B;B	.|0.14438	.|0.003;0.003;0.01	.|B;B;B	.|0.12156	.|0.007;0.007;0.007	T|T	0.33189|0.33189	-0.9878|-0.9878	5|10	.|0.02654	.|T	.|1	.|.	15.7244|15.7244	0.77743|0.77743	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|850;635;860	.|D3DSS6;Q68DL4;Q9H7D0	.|.;.;DOCK5_HUMAN	H|I	632|860	.|ENSP00000276440:M860I	.|ENSP00000276440:M860I	D|M	+|+	1|3	0|0	DOCK5|DOCK5	25255903|25255903	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	9.229000|9.229000	0.95273|0.95273	2.353000|2.353000	0.79882|0.79882	0.551000|0.551000	0.68910|0.68910	GAC|ATG		0.468	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940	
POTEA	340441	broad.mit.edu	37	8	43171085	43171085	+	RNA	SNP	G	G	C			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr8:43171085G>C	ENST00000522175.2	+	0	820							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						CTTAAAGGAAGTGAAAATAGT	0.303																																						uc003xpz.1																			0				ovary(1)	1						c.(955-957)AGT>ACT		POTE ankyrin domain family, member A isoform 2							43.0	45.0	44.0					8																	43171085		2054	4247	6301			340441							g.chr8:43171085G>C	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.43171085G>C						POTEA_uc003xqa.1_Missense_Mutation_p.S273T	p.S319T	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN			7	999	+			319					A6ND17|A6ND71|Q6S8J6	Missense_Mutation	SNP	ENST00000522175.2	37	c.956G>C																																																																																					0.303	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920	
ADAMTSL1	92949	broad.mit.edu	37	9	18574217	18574217	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr9:18574217C>T	ENST00000380548.4	+	4	766	c.427C>T	c.(427-429)Cgt>Tgt	p.R143C	ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.R143C|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.R143C|MIR3152_ENST00000579801.1_RNA|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.R143C|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.R143C|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.R143C	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	143						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			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)		AGATGGTACGCGTTGCTATAC	0.438																																						uc003zne.3																			0				ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5						c.(427-429)CGT>TGT		ADAMTS-like 1 isoform 4 precursor							230.0	191.0	204.0					9																	18574217		2203	4300	6503	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18574217C>T	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.427C>T	9.37:g.18574217C>T	ENSP00000369921:p.Arg143Cys					ADAMTSL1_uc003znb.2_Missense_Mutation_p.R143C|ADAMTSL1_uc003znc.3_Missense_Mutation_p.R143C	p.R143C	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	4	554	+			143					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.427C>T	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.739162	0.89573	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000431052;ENST00000380570;ENST00000380566;ENST00000276935	T;T;T;T;T;T	0.59364	3.84;0.27;0.27;0.27;0.27;0.27	5.55	4.61	0.57282	.	.	.	.	.	T	0.80093	0.4560	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.84259	0.0482	9	0.72032	D	0.01	.	15.7681	0.78143	0.1368:0.8632:0.0:0.0	.	143;143	Q8N6G6;Q8N6G6-2	ATL1_HUMAN;.	C	143	ENSP00000369921:R143C;ENSP00000327887:R143C;ENSP00000401157:R143C;ENSP00000369944:R143C;ENSP00000369940:R143C;ENSP00000276935:R143C	ENSP00000276935:R143C	R	+	1	0	ADAMTSL1	18564217	1.000000	0.71417	0.947000	0.38551	0.995000	0.86356	4.795000	0.62489	2.620000	0.88729	0.643000	0.83706	CGT		0.438	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1		
IFNW1	3467	broad.mit.edu	37	9	21141168	21141168	+	Silent	SNP	C	C	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr9:21141168C>T	ENST00000380229.2	-	1	976	c.402G>A	c.(400-402)ggG>ggA	p.G134G		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	134					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)		TGCTAATTGCCCCAGCAGATT	0.527																																						uc003zol.1																			0					0						c.(400-402)GGG>GGA		interferon, omega 1 precursor							85.0	78.0	80.0					9																	21141168		2203	4300	6503	SO:0001819	synonymous_variant	3467				cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21141168C>T		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.402G>A	9.37:g.21141168C>T							p.G134G	NM_002177	NP_002168	P05000	IFNW1_HUMAN		GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	977	-			134					Q13168|Q5U802|Q5VWD0|Q7M4P5	Silent	SNP	ENST00000380229.2	37	c.402G>A	CCDS6496.1																																																																																				0.527	IFNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051885.1	NM_002177	
ST6GALNAC4	27090	broad.mit.edu	37	9	130674960	130674960	+	Splice_Site	SNP	C	C	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr9:130674960C>A	ENST00000335791.5	-	4	474		c.e4-1		ST6GALNAC4_ENST00000343609.2_Splice_Site|ST6GALNAC4_ENST00000495983.1_Splice_Site	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4						cellular protein metabolic process (GO:0044267)|glycolipid metabolic process (GO:0006664)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity (GO:0047290)|sialyltransferase activity (GO:0008373)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						GGACCAGCGGCTGCAGGGCAG	0.632																																						uc004bss.2																			0					0						c.e4-1		sialyltransferase 7D isoform a							10.0	9.0	10.0					9																	130674960		2181	4272	6453	SO:0001630	splice_region_variant	27090				glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity	g.chr9:130674960C>A	AB035172	CCDS6883.1	9q34	2013-03-01	2005-02-07	2005-02-07	ENSG00000136840	ENSG00000136840	2.4.99.7	"""Sialyltransferases"""	17846	protein-coding gene	gene with protein product		606378	"""sialyltransferase 7D ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)"""	SIAT7D		10207017, 11062056	Standard	XM_005251922		Approved	ST6GALNACIV, SIAT3C	uc004bss.3	Q9H4F1	OTTHUMG00000020724	ENST00000335791.5:c.199-1G>T	9.37:g.130674960C>A						ST6GALNAC4_uc004bst.2_Splice_Site	p.P67_splice	NM_175039	NP_778204	Q9H4F1	SIA7D_HUMAN			4	475	-								Q5T9D0|Q9NWU6|Q9UKU1|Q9ULB9|Q9Y3G3|Q9Y3G4	Splice_Site	SNP	ENST00000335791.5	37	c.199_splice	CCDS6883.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560470	0.45590	.	.	ENSG00000136840	ENST00000335791	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2136	0.89878	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ST6GALNAC4	129714781	1.000000	0.71417	0.996000	0.52242	0.311000	0.27955	7.221000	0.78016	2.614000	0.88457	0.561000	0.74099	.		0.632	ST6GALNAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054317.2	NM_175040	Intron
ATP11C	286410	broad.mit.edu	37	X	138867417	138867417	+	Missense_Mutation	SNP	C	C	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chrX:138867417C>A	ENST00000327569.3	-	16	1741	c.1643G>T	c.(1642-1644)cGa>cTa	p.R548L	ATP11C_ENST00000361648.2_Missense_Mutation_p.R548L|ATP11C_ENST00000359686.2_Missense_Mutation_p.R548L|ATP11C_ENST00000370557.1_Missense_Mutation_p.R545L|ATP11C_ENST00000370543.1_Missense_Mutation_p.R548L|ATP11C_ENST00000460773.1_5'UTR	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	548					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)					ACTCATACGTCGCCGGACAGC	0.338																																						uc004faz.2																			0				ovary(5)|large_intestine(3)	8						c.(1642-1644)CGA>CTA		ATPase, class VI, type 11C isoform a							105.0	93.0	97.0					X																	138867417		2203	4300	6503	SO:0001583	missense	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138867417C>A	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.1643G>T	X.37:g.138867417C>A	ENSP00000332756:p.Arg548Leu					ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Missense_Mutation_p.R548L	p.R548L	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN			16	1742	-	Acute lymphoblastic leukemia(192;0.000127)		548			Cytoplasmic (Potential).		Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	c.1643G>T	CCDS14668.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.6|28.6	4.935827|4.935827	0.92458|0.92458	.|.	.|.	ENSG00000101974|ENSG00000101974	ENST00000422228|ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	.|T;T;T;T;T	.|0.72725	.|-0.68;-0.68;-0.68;-0.68;-0.68	5.77|5.77	5.77|5.77	0.91146|0.91146	.|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|D	0.88243|0.88243	0.6384|0.6384	M|M	0.92649|0.92649	3.33|3.33	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.91635	.|0.999;0.995	D|D	0.90878|0.90878	0.4751|0.4751	5|10	.|0.87932	.|D	.|0	.|.	17.7619|17.7619	0.88467|0.88467	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|548;548	.|Q8NB49-3;Q8NB49	.|.;AT11C_HUMAN	Y|L	100|545;548;548;548;548	.|ENSP00000359588:R545L;ENSP00000355165:R548L;ENSP00000332756:R548L;ENSP00000359574:R548L;ENSP00000352715:R548L	.|ENSP00000332756:R548L	D|R	-|-	1|2	0|0	ATP11C|ATP11C	138695083|138695083	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.900000|0.900000	0.52787|0.52787	7.397000|7.397000	0.79903|0.79903	2.413000|2.413000	0.81919|0.81919	0.600000|0.600000	0.82982|0.82982	GAC|CGA		0.338	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694	
TSPY8	728403	broad.mit.edu	37	Y	9195471	9195471	+	Missense_Mutation	SNP	T	T	G			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chrY:9195471T>G	ENST00000287721.9	+	1	66	c.20T>G	c.(19-21)cTg>cGg	p.L7R	TSPY8_ENST00000477879.1_3'UTR|TSPY8_ENST00000383000.1_Missense_Mutation_p.L7R|FAM197Y8_ENST00000426661.1_RNA|FAM197Y8_ENST00000432394.1_RNA|TSPY8_ENST00000330628.9_Missense_Mutation_p.L7R|TSPY8_ENST00000537415.1_5'Flank|TSPY8_ENST00000383005.2_Missense_Mutation_p.L7R	NM_001243721.1	NP_001230650.1	P0CW00	TSPY8_HUMAN	testis specific protein, Y-linked 8	7					cell differentiation (GO:0030154)|gonadal mesoderm development (GO:0007506)|nucleosome assembly (GO:0006334)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											GAGGGCTCGCTGACCTACTGG	0.716																																						uc004frr.1																			0					0						c.(19-21)CTG>CGG		testis specific protein, Y-linked 3							9.0	15.0	14.0					Y																	9195471		133	778	911	SO:0001583	missense	728395				cell differentiation|gonadal mesoderm development|nucleosome assembly|spermatogenesis	cytoplasm|nucleus		g.chrY:9195471T>G		CCDS59533.1	Yp11.2	2010-07-28			ENSG00000229549	ENSG00000229549			37471	protein-coding gene	gene with protein product							Standard	NM_001243721		Approved		uc004frr.2	P0CW00	OTTHUMG00000041531	ENST00000287721.9:c.20T>G	Y.37:g.9195471T>G	ENSP00000287721:p.Leu7Arg					FAM197Y2_uc004frp.1_Intron|TSPY4_uc004frq.1_Missense_Mutation_p.L7R	p.L7R	NM_001077697	NP_001071165	P0CW01	TSPYA_HUMAN			1	66	+			7					H7BXJ3	Missense_Mutation	SNP	ENST00000287721.9	37	c.20T>G	CCDS59533.1	.	.	.	.	.	.	.	.	.	.	.	11.59	1.683028	0.29872	.	.	ENSG00000229549	ENST00000383000;ENST00000330628	T;T	0.42900	0.96;1.33	.	.	.	.	.	.	.	.	T	0.06554	0.0168	N	0.08118	0	0.22819	N	0.998699	D;D	0.54964	0.969;0.969	B;B	0.38194	0.267;0.262	T	0.16100	-1.0414	5	.	.	.	.	.	.	.	.	7;7	P0CV99;A6NGL4	TSPY4_HUMAN;.	R	7	ENSP00000372462:L7R;ENSP00000327984:L7R	.	L	+	2	0	TSPY8	9255471	0.001000	0.12720	0.062000	0.19696	0.062000	0.15995	0.397000	0.20883	0.056000	0.16144	0.055000	0.15244	CTG		0.716	TSPY8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000099496.1	XM_001127004	
