#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
CROCC	9696	broad.mit.edu	37	1	17296756	17296756	+	Silent	SNP	G	G	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr1:17296756G>A	ENST00000375541.5	+	34	5529	c.5460G>A	c.(5458-5460)cgG>cgA	p.R1820R		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGGTGCTGCGGCAGCGGCAGG	0.657																																						uc001azt.2																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(5458-5460)cgG>cgA		Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA.							4.0	4.0	4.0					1																	17296756		1786	3668	5454	SO:0001819	synonymous_variant	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17296756G>A	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.5460G>A	1.37:g.17296756G>A						CROCC_uc001azu.2_Silent_p.R1123R|CROCC_uc001azv.2_Silent_p.R156R	p.R1820R	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	33	5529	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	1820						Silent	SNP	ENST00000375541.5	37	c.5460G>A	CCDS30616.1																																																																																				0.657	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675	
HCRTR1	3061	broad.mit.edu	37	1	32086485	32086485	+	Silent	SNP	C	C	T	rs140406432		TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr1:32086485C>T	ENST00000373706.5	+	3	573	c.420C>T	c.(418-420)atC>atT	p.I140I	HCRTR1_ENST00000403528.2_Silent_p.I140I|HCRTR1_ENST00000468521.1_3'UTR|HCRTR1_ENST00000373705.1_Silent_p.I140I			O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	140					feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|orexin receptor activity (GO:0016499)|peptide hormone binding (GO:0017046)			breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		TCAGCTTCATCGCCCTGGACC	0.627																																						uc009vtx.2																			0				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7						c.(418-420)atC>atT		Homo sapiens hypocretin (orexin) receptor 1 (HCRTR1), mRNA.		C		0,4406		0,0,2203	133.0	124.0	127.0		420	2.0	1.0	1	dbSNP_134	127	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	HCRTR1	NM_001525.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		140/426	32086485	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3061				feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane		g.chr1:32086485C>T	AF041243	CCDS344.1	1p33	2012-08-08			ENSG00000121764	ENSG00000121764		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4848	protein-coding gene	gene with protein product		602392				9491897	Standard	NM_001525		Approved	OX1R	uc009vtx.2	O43613	OTTHUMG00000003876	ENST00000373706.5:c.420C>T	1.37:g.32086485C>T						HCRTR1_uc001btc.4_Silent_p.I54I|HCRTR1_uc001btd.2_Silent_p.I140I|HCRTR1_uc010ogl.2_Silent_p.I140I	p.I140I	NM_001525	NP_001516	O43613	OX1R_HUMAN		STAD - Stomach adenocarcinoma(196;0.053)	4	805	+		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)	140					A8K3A6|Q9HBV6	Silent	SNP	ENST00000373706.5	37	c.420C>T	CCDS344.1																																																																																				0.627	HCRTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011042.1	NM_001525	
PABPC4	8761	broad.mit.edu	37	1	40038250	40038250	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr1:40038250C>T	ENST00000372857.3	-	2	994	c.202G>A	c.(202-204)Gct>Act	p.A68T	PABPC4_ENST00000372856.3_Missense_Mutation_p.A68T|PABPC4_ENST00000372858.3_Missense_Mutation_p.A68T|PABPC4_ENST00000529216.1_5'Flank|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372862.3_Missense_Mutation_p.A68T	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	68	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GTGTCCAAAGCCCGCTCAGCT	0.463																																						uc001cdl.2																			0		p.R67W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21						c.(202-204)Gct>Act		Homo sapiens poly(A) binding protein, cytoplasmic 4 (inducible form) (PABPC4), transcript variant 1, mRNA.							78.0	72.0	74.0					1																	40038250		2203	4300	6503	SO:0001583	missense	8761				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding	g.chr1:40038250C>T	U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"""RNA binding motif (RRM) containing"""	8557	protein-coding gene	gene with protein product		603407	"""poly(A)-binding protein, cytoplasmic 4 (inducible form)"""			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.202G>A	1.37:g.40038250C>T	ENSP00000361948:p.Ala68Thr					PABPC4_uc010oiv.1_Missense_Mutation_p.A68T|PABPC4_uc001cdm.2_Missense_Mutation_p.A68T	p.A68T	NM_001135653	NP_001129125	Q13310	PABP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		1	1100	-	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	68			RRM 1.		B1ANQ8|Q4VC03|Q6P0N3	Missense_Mutation	SNP	ENST00000372857.3	37	c.202G>A	CCDS438.1	.	.	.	.	.	.	.	.	.	.	C	35	5.421956	0.96111	.	.	ENSG00000090621	ENST00000372862;ENST00000372858;ENST00000372857;ENST00000372856;ENST00000451091	T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19	5.69	4.77	0.60923	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.70666	0.3250	H	0.95294	3.65	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.999;0.995	T	0.79862	-0.1624	10	0.87932	D	0	.	15.051	0.71867	0.0:0.9308:0.0:0.0692	.	68;68;68	Q13310;Q13310-2;Q4VC03	PABP4_HUMAN;.;.	T	68	ENSP00000361953:A68T;ENSP00000361949:A68T;ENSP00000361948:A68T;ENSP00000361947:A68T;ENSP00000406675:A68T	ENSP00000361947:A68T	A	-	1	0	PABPC4	39810837	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.977000	0.70492	2.682000	0.91365	0.655000	0.94253	GCT		0.463	PABPC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025220.1	NM_001135653	
CYP4X1	260293	broad.mit.edu	37	1	47512186	47512186	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr1:47512186C>T	ENST00000371901.3	+	9	1371	c.1121C>T	c.(1120-1122)aCg>aTg	p.T374M	CYP4X1_ENST00000538609.1_Missense_Mutation_p.T373M	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	374						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						ATCAAGGAGACGTGCCGATTG	0.493																																						uc001cqt.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						c.(1120-1122)aCg>aTg		Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.							179.0	151.0	160.0					1																	47512186		2203	4300	6503	SO:0001583	missense	260293					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47512186C>T	AK091806	CCDS544.1	1p33	2008-02-05			ENSG00000186377	ENSG00000186377		"""Cytochrome P450s"""	20244	protein-coding gene	gene with protein product		614999				12176035	Standard	NM_178033		Approved	MGC40051	uc001cqt.3	Q8N118	OTTHUMG00000008017	ENST00000371901.3:c.1121C>T	1.37:g.47512186C>T	ENSP00000360968:p.Thr374Met					CYP4X1_uc001cqr.3_Missense_Mutation_p.T373M|CYP4X1_uc001cqs.3_Missense_Mutation_p.T309M	p.T374M	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN			8	1371	+			374					G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Missense_Mutation	SNP	ENST00000371901.3	37	c.1121C>T	CCDS544.1	.	.	.	.	.	.	.	.	.	.	c	11.75	1.731807	0.30684	.	.	ENSG00000186377	ENST00000538609;ENST00000371901	T;T	0.72167	-0.63;-0.63	6.08	1.49	0.22878	.	0.900013	0.09816	N	0.752198	T	0.71350	0.3329	M	0.85299	2.745	0.09310	N	1	P;D	0.63880	0.89;0.993	P;P	0.45276	0.475;0.463	T	0.62793	-0.6779	10	0.87932	D	0	.	2.5256	0.04690	0.1183:0.4803:0.2133:0.1881	.	374;373	Q8N118;G3V1U1	CP4X1_HUMAN;.	M	373;374	ENSP00000445965:T373M;ENSP00000360968:T374M	ENSP00000360968:T374M	T	+	2	0	CYP4X1	47284773	0.083000	0.21467	0.001000	0.08648	0.055000	0.15305	1.378000	0.34328	0.011000	0.14865	-0.218000	0.12543	ACG		0.493	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022017.1	NM_178033	
CYP4A22	284541	broad.mit.edu	37	1	47606460	47606460	+	Silent	SNP	C	C	T	rs370585374		TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr1:47606460C>T	ENST00000371891.3	+	2	235	c.204C>T	c.(202-204)caC>caT	p.H68H	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000294337.3_Silent_p.H68H|CYP4A22_ENST00000371890.3_Silent_p.H68H|CYP4A22_ENST00000485117.1_3'UTR	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	68						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGTTCCAACACGACCAGGAGC	0.498																																					Pancreas(88;1240 1470 2099 14214 37557)	uc001cqv.1																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(202-204)caC>caT		Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.		C		2,4404	4.2+/-10.8	0,2,2201	157.0	137.0	144.0		204	-2.4	0.0	1		144	0,8600		0,0,4300	no	coding-synonymous	CYP4A22	NM_001010969.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		68/520	47606460	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	284541					endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding	g.chr1:47606460C>T		CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"""Cytochrome P450s"""	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.204C>T	1.37:g.47606460C>T						CYP4A22_uc009vyo.3_Silent_p.H68H|CYP4A22_uc009vyp.3_Silent_p.H68H	p.H68H	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN			1	255	+			68					Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Silent	SNP	ENST00000371891.3	37	c.204C>T	CCDS30707.1																																																																																				0.498	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	XM_208213	
CDKN2C	1031	broad.mit.edu	37	1	51439583	51439583	+	Frame_Shift_Del	DEL	C	C	-			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr1:51439583delC	ENST00000262662.1	+	4	2182	c.148delC	c.(148-150)cccfs	p.P50fs	CDKN2C_ENST00000396148.1_Frame_Shift_Del_p.P50fs|CDKN2C_ENST00000371761.3_Frame_Shift_Del_p.P50fs			P42773	CDN2C_HUMAN	cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)	50					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|oligodendrocyte differentiation (GO:0048709)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)	p.0?(11)|p.?(1)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		ACTTGGAAATCCCGAGATTGC	0.428			D		"""glioma, MM"""																																Melanoma(47;50 1155 4767 22863 47597)	uc001csf.3				Rec	yes		1	1p32	1031	D	"""cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)"""			"""O, L"""			"""glioma, MM"""		12	Whole gene deletion(11)|Unknown(1)	p.0?(11)|p.?(1)	central_nervous_system(6)|haematopoietic_and_lymphoid_tissue(5)|thyroid(1)	central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23						c.(148-150)cccfs		Homo sapiens cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) (CDKN2C), transcript variant 1, mRNA.							85.0	93.0	90.0					1																	51439583		2203	4300	6503	SO:0001589	frameshift_variant	1031				cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	g.chr1:51439583delC	BC000598	CCDS555.1	1p32.3	2013-01-10			ENSG00000123080	ENSG00000123080		"""Ankyrin repeat domain containing"""	1789	protein-coding gene	gene with protein product		603369				8001816, 9636670	Standard	NM_001262		Approved	INK4C, p18	uc001csg.3	P42773	OTTHUMG00000008046	ENST00000262662.1:c.148delC	1.37:g.51439583delC	ENSP00000262662:p.Pro50fs					CDKN2C_uc001csg.3_Frame_Shift_Del_p.P50fs	p.P50fs	NM_001262	NP_523240	P42773	CDN2C_HUMAN		GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)	2	2123	+			50					Q8TB83	Frame_Shift_Del	DEL	ENST00000262662.1	37	c.148delC	CCDS555.1																																																																																				0.428	CDKN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022058.1	NM_001262	
FCRLA	84824	broad.mit.edu	37	1	161682005	161682005	+	Nonsense_Mutation	SNP	C	C	T	rs569112764		TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr1:161682005C>T	ENST00000236938.6	+	4	1074	c.832C>T	c.(832-834)Cag>Tag	p.Q278*	FCRLA_ENST00000309691.6_Nonsense_Mutation_p.Q172*|FCRLA_ENST00000367953.3_Nonsense_Mutation_p.Q267*|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000294796.4_Nonsense_Mutation_p.Q127*|FCRLA_ENST00000540521.1_Nonsense_Mutation_p.Q144*|FCRLA_ENST00000546024.1_Nonsense_Mutation_p.Q189*|FCRLA_ENST00000367959.2_Nonsense_Mutation_p.Q284*|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000540926.1_Nonsense_Mutation_p.Q267*|FCRLA_ENST00000349527.4_Intron|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000367957.2_Nonsense_Mutation_p.Q138*	NM_032738.3	NP_116127.3	Q7L513	FCRLA_HUMAN	Fc receptor-like A	261	Pro-rich.				cell differentiation (GO:0030154)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			GATCAGAGTGCAGGGTGAGTT	0.527																																						uc001gbe.3																			0				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34						c.(850-852)Cag>Tag		Homo sapiens Fc receptor-like A (FCRLA), transcript variant 1, mRNA.							69.0	68.0	68.0					1																	161682005		2203	4300	6503	SO:0001587	stop_gained	84824				cell differentiation	cytoplasm|extracellular region		g.chr1:161682005C>T	AF531423	CCDS30926.1, CCDS53415.1, CCDS53416.1, CCDS53417.1, CCDS53418.1, CCDS53419.1, CCDS53420.1	1q23.3	2014-01-28	2006-09-26	2006-09-26	ENSG00000132185	ENSG00000132185		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18504	protein-coding gene	gene with protein product		606891	"""Fc receptor-like and mucin-like 1"""	FCRLM1		11754007	Standard	NM_001184866		Approved	MGC4595, FCRLc2, FCRLb, FCRLc1, FCRLd, FCRLe, FCRL, FCRLa, FREB, FCRLX	uc001gbe.3	Q7L513	OTTHUMG00000034537	ENST00000236938.6:c.832C>T	1.37:g.161682005C>T	ENSP00000236938:p.Gln278*					FCRLA_uc001gbg.3_Nonsense_Mutation_p.Q138*|FCRLA_uc009wup.3_Intron|FCRLA_uc009wuq.3_Intron|FCRLA_uc001gbd.3_Nonsense_Mutation_p.Q278*|FCRLA_uc001gbf.3_Nonsense_Mutation_p.Q189*|FCRLA_uc009wuo.3_Nonsense_Mutation_p.Q144*	p.Q284*	NM_001184866	NP_001171795	Q7L513	FCRLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00301)		4	1092	+	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		261			Pro-rich.		A0N0M1|A6NC03|A6NL20|F5H720|F8W743|G3V1J2|Q5VXA1|Q5VXA2|Q5VXA3|Q5VXA4|Q5VXB0|Q5VXB1|Q8NEW4|Q8WXH3|Q96PC6|Q96PJ0|Q96PJ1|Q96PJ2|Q96PJ4|Q9BR57	Nonsense_Mutation	SNP	ENST00000236938.6	37	c.850C>T	CCDS30926.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.817987	0.90790	.	.	ENSG00000132185	ENST00000236938;ENST00000367959;ENST00000546024;ENST00000540521;ENST00000540926;ENST00000367957;ENST00000309691;ENST00000294796;ENST00000367953	.	.	.	5.81	4.87	0.63330	.	0.410667	0.21013	N	0.081659	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	12.4064	0.55443	0.1665:0.8335:0.0:0.0	.	.	.	.	X	278;284;189;144;267;138;172;127;267	.	ENSP00000236938:Q278X	Q	+	1	0	FCRLA	159948629	0.999000	0.42202	1.000000	0.80357	0.956000	0.61745	0.902000	0.28459	2.746000	0.94184	0.591000	0.81541	CAG		0.527	FCRLA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083574.1	NM_032738	
RYR2	6262	broad.mit.edu	37	1	237754030	237754030	+	Missense_Mutation	SNP	A	A	G			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr1:237754030A>G	ENST00000366574.2	+	31	4215	c.3898A>G	c.(3898-3900)Atg>Gtg	p.M1300V	RYR2_ENST00000542537.1_Missense_Mutation_p.M1284V|RYR2_ENST00000360064.6_Missense_Mutation_p.M1298V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1300	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CACTGATATCATGTTTTATCG	0.522																																						uc001hyl.1																			0		p.F1299Y(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(3898-3900)Atg>Gtg		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							242.0	230.0	234.0					1																	237754030		1975	4165	6140	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237754030A>G	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3898A>G	1.37:g.237754030A>G	ENSP00000355533:p.Met1300Val						p.M1300V	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		30	4018	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1300			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.3898A>G	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	a	4.554	0.102960	0.08731	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96168	-3.93;-3.89;-3.92	5.03	5.03	0.67393	.	0.079983	0.50627	D	0.000107	D	0.87505	0.6194	N	0.04508	-0.205	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	D	0.83463	0.0055	10	0.37606	T	0.19	.	11.2514	0.49028	0.8472:0.1528:0.0:0.0	.	1300	Q92736	RYR2_HUMAN	V	1300;1298;1284	ENSP00000355533:M1300V;ENSP00000353174:M1298V;ENSP00000443798:M1284V	ENSP00000353174:M1298V	M	+	1	0	RYR2	235820653	0.996000	0.38824	1.000000	0.80357	0.239000	0.25481	2.515000	0.45512	2.241000	0.73720	0.533000	0.62120	ATG		0.522	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
KIF5B	3799	broad.mit.edu	37	10	32306085	32306085	+	Missense_Mutation	SNP	T	T	C	rs200775134		TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr10:32306085T>C	ENST00000302418.4	-	24	3204	c.2747A>G	c.(2746-2748)cAt>cGt	p.H916R	KIF5B_ENST00000493889.1_5'Flank	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	916	Globular.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				CTGTGCAGAATGCCCTCTTCT	0.383			T	"""RET, ALK"""	NSCLC																																	uc001iwe.4				Dom	yes		10	10p11.22	3799	T	kinesin family member 5B			E	"""RET, ALK"""		NSCLC	KIF5B/ALK(8)|KIF5B/RET(79)	0				NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35						c.(2746-2748)cAt>cGt		Homo sapiens kinesin family member 5B (KIF5B), mRNA.		T	ARG/HIS	0,4406		0,0,2203	254.0	229.0	237.0		2747	5.6	1.0	10		237	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIF5B	NM_004521.2	29	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging	916/964	32306085	1,13005	2203	4300	6503	SO:0001583	missense	3799				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity	g.chr10:32306085T>C	X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"""Kinesins"""	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.2747A>G	10.37:g.32306085T>C	ENSP00000307078:p.His916Arg						p.H916R	NM_004521	NP_004512	P33176	KINH_HUMAN			23	3217	-		Prostate(175;0.0137)	916			Globular.		A0AVB2|Q5VZ85	Missense_Mutation	SNP	ENST00000302418.4	37	c.2747A>G	CCDS7171.1	.	.	.	.	.	.	.	.	.	.	T	13.94	2.385863	0.42308	0.0	1.16E-4	ENSG00000170759	ENST00000302418	D	0.85629	-2.01	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.83899	0.5354	M	0.69823	2.125	0.49798	D	0.999827	B	0.24618	0.107	B	0.25987	0.065	T	0.79926	-0.1597	10	0.15952	T	0.53	.	15.7339	0.77827	0.0:0.0:0.0:1.0	.	916	P33176	KINH_HUMAN	R	916	ENSP00000307078:H916R	ENSP00000307078:H916R	H	-	2	0	KIF5B	32346091	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	5.895000	0.69814	2.120000	0.65058	0.383000	0.25322	CAT		0.383	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521	
PTEN	5728	broad.mit.edu	37	10	89720857	89720857	+	Nonsense_Mutation	SNP	C	C	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr10:89720857C>A	ENST00000371953.3	+	8	2365	c.1008C>A	c.(1006-1008)taC>taA	p.Y336*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	336	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.Y336*(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R335fs*4(1)|p.W274_F341del(1)|p.D326_K342del(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)		CCAACCGATACTTTTCTCCAA	0.333		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		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"""		57	Whole gene deletion(37)|Deletion - Frameshift(10)|Substitution - Nonsense(5)|Deletion - In frame(3)|Unknown(2)	p.0?(37)|p.R335*(25)|p.Y336*(10)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R335fs*4(2)|p.W274_F341del(2)|p.D326_K342del(2)|p.R335fs*8(1)|p.G165_*404del(1)|p.G165_K342del(1)|p.R335fs*7(1)|p.R335G(1)|p.Y336F(1)|p.R335R(1)	prostate(17)|central_nervous_system(14)|skin(6)|endometrium(4)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(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						c.(1006-1008)taC>taA		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							55.0	57.0	56.0					10																	89720857		2203	4297	6500	SO:0001587	stop_gained	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;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.chr10:89720857C>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.1008C>A	10.37:g.89720857C>A	ENSP00000361021:p.Tyr336*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.Y336*	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)	7	2040	+		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)	336			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.1008C>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	47	13.591684	0.99751	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.37	-0.801	0.10893	.	0.180480	0.50627	D	0.000109	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0084	6.6321	0.22863	0.1173:0.3839:0.0:0.4988	.	.	.	.	X	336	.	.	Y	+	3	2	PTEN	89710837	0.996000	0.38824	0.979000	0.43373	0.989000	0.77384	0.460000	0.21924	-0.467000	0.06932	-0.218000	0.12543	TAC		0.333	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
SLC6A13	6540	broad.mit.edu	37	12	333249	333249	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr12:333249G>A	ENST00000343164.4	-	11	1272	c.1220C>T	c.(1219-1221)cCt>cTt	p.P407L	SLC6A13_ENST00000539668.1_5'UTR|SLC6A13_ENST00000445055.2_Missense_Mutation_p.P315L	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	407					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GAACACGTGAGGGTACATGTC	0.562																																						uc001qic.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28						c.(1219-1221)cCt>cTt		Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.							118.0	99.0	105.0					12																	333249		2203	4300	6503	SO:0001583	missense	6540				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:333249G>A	U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"""Solute carriers"""	11046	protein-coding gene	gene with protein product	"""GABA transporter 2"""	615097	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 13"""				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.1220C>T	12.37:g.333249G>A	ENSP00000339260:p.Pro407Leu					SLC6A13_uc009zdj.2_Missense_Mutation_p.P397L|SLC6A13_uc010sdl.2_Missense_Mutation_p.P315L	p.P407L	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		10	1310	-	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		407					B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	ENST00000343164.4	37	c.1220C>T	CCDS8502.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.487913	0.84854	.	.	ENSG00000010379	ENST00000445055;ENST00000313154;ENST00000343164	T;T	0.76316	-1.01;-1.01	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.91868	0.7426	H	0.94925	3.6	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93725	0.7036	10	0.87932	D	0	.	19.3766	0.94512	0.0:0.0:1.0:0.0	.	315;386;407	B4DJL1;B4DJS3;Q9NSD5	.;.;S6A13_HUMAN	L	315;386;407	ENSP00000407104:P315L;ENSP00000339260:P407L	ENSP00000318097:P386L	P	-	2	0	SLC6A13	203510	1.000000	0.71417	0.993000	0.49108	0.456000	0.32438	9.793000	0.99091	2.596000	0.87737	0.491000	0.48974	CCT		0.562	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615	
SLCO1B7	338821	broad.mit.edu	37	12	21201718	21201718	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr12:21201718C>T	ENST00000421593.2	+	8	1067	c.1067C>T	c.(1066-1068)tCt>tTt	p.S356F	SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000381541.3_Missense_Mutation_p.S403F|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.S403F|LST3_ENST00000540229.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	356						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TTCAAATTGTCTTTAGTTGGA	0.353																																						uc010sil.2																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63								Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.							60.0	61.0	60.0					12																	21201718		2055	4231	6286	SO:0001583	missense	338821				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21201718C>T	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1067C>T	12.37:g.21201718C>T	ENSP00000394168:p.Ser356Phe					SLCO1B3_uc010sim.2_Missense_Mutation_p.S403F|SLCO1B3_uc010sin.2_Missense_Mutation_p.S356F				Q9NPD5	SO1B3_HUMAN					+	Esophageal squamous(101;0.149)							Q71QF0	Missense_Mutation	SNP	ENST00000421593.2	37		CCDS44843.1	.	.	.	.	.	.	.	.	.	.	.	11.63	1.697005	0.30142	.	.	ENSG00000257046;ENSG00000205754;ENSG00000205754	ENST00000381541;ENST00000554957;ENST00000421593	T;T;T	0.80653	-1.4;-1.4;1.0	3.45	2.53	0.30540	.	0.507054	0.21791	N	0.069073	T	0.81659	0.4869	M	0.64170	1.965	0.09310	N	1	P;P	0.39443	0.537;0.674	P;P	0.50490	0.642;0.642	T	0.72896	-0.4153	10	0.72032	D	0.01	.	6.15	0.20306	0.2155:0.5748:0.2097:0.0	.	356;403	G3V0H7;F5H094	.;.	F	403;403;356	ENSP00000370952:S403F;ENSP00000452013:S403F;ENSP00000394168:S356F	ENSP00000370952:S403F	S	+	2	0	SLCO1B7;RP11-545J16.1	21092985	0.000000	0.05858	0.003000	0.11579	0.025000	0.11179	-0.169000	0.09911	0.742000	0.32697	0.508000	0.49915	TCT		0.353	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562	
E2F7	144455	broad.mit.edu	37	12	77426878	77426878	+	Missense_Mutation	SNP	A	A	G			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr12:77426878A>G	ENST00000322886.7	-	9	1569	c.1334T>C	c.(1333-1335)aTt>aCt	p.I445T	E2F7_ENST00000416496.2_Missense_Mutation_p.I445T	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	445					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CAGGCTTCCAATTTCTAAAGA	0.353																																						uc001sym.4																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						c.(1333-1335)aTt>aCt		Homo sapiens E2F transcription factor 7 (E2F7), mRNA.							77.0	82.0	80.0					12																	77426878		2203	4300	6503	SO:0001583	missense	144455				cell cycle	transcription factor complex	DNA binding|identical protein binding	g.chr12:77426878A>G	BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.1334T>C	12.37:g.77426878A>G	ENSP00000323246:p.Ile445Thr					E2F7_uc009zse.3_5'Flank	p.I445T	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN			8	1570	-			445					A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP	ENST00000322886.7	37	c.1334T>C	CCDS9016.1	.	.	.	.	.	.	.	.	.	.	A	14.67	2.604242	0.46423	.	.	ENSG00000165891	ENST00000322886;ENST00000416496;ENST00000550669	T;T;T	0.18810	2.46;2.19;2.2	5.33	5.33	0.75918	.	0.320832	0.35349	N	0.003270	T	0.24044	0.0582	M	0.65975	2.015	0.36337	D	0.859211	P	0.37781	0.608	B	0.37943	0.261	T	0.20306	-1.0279	10	0.19147	T	0.46	-10.3588	13.1719	0.59604	1.0:0.0:0.0:0.0	.	445	Q96AV8	E2F7_HUMAN	T	445	ENSP00000323246:I445T;ENSP00000393639:I445T;ENSP00000448245:I445T	ENSP00000323246:I445T	I	-	2	0	E2F7	75951009	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	5.098000	0.64548	2.241000	0.73720	0.533000	0.62120	ATT		0.353	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871	
RPH3A	22895	broad.mit.edu	37	12	113313505	113313505	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr12:113313505C>T	ENST00000389385.4	+	12	1402	c.905C>T	c.(904-906)cCg>cTg	p.P302L	RPH3A_ENST00000543106.2_Missense_Mutation_p.P302L|RPH3A_ENST00000551052.1_Missense_Mutation_p.P298L|RPH3A_ENST00000420983.2_Missense_Mutation_p.P302L|RPH3A_ENST00000415485.3_Missense_Mutation_p.P302L|RPH3A_ENST00000548866.1_Missense_Mutation_p.P253L|RPH3A_ENST00000447659.2_Missense_Mutation_p.P253L|RPH3A_ENST00000549913.2_3'UTR	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	302	Pro-rich.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GGAAGCAGACCGGGTCCTGGG	0.577																																						uc010syl.2																			0		p.G301R(1)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47						c.(904-906)cCg>cTg		Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA.							70.0	68.0	69.0					12																	113313505		2203	4300	6503	SO:0001583	missense	22895				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	g.chr12:113313505C>T	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.905C>T	12.37:g.113313505C>T	ENSP00000374036:p.Pro302Leu					RPH3A_uc001ttz.3_Missense_Mutation_p.P302L|RPH3A_uc001tty.3_Missense_Mutation_p.P298L|RPH3A_uc009zwe.1_Missense_Mutation_p.P298L|RPH3A_uc010sym.2_Missense_Mutation_p.P253L|RPH3A_uc001tua.3_Missense_Mutation_p.P62L	p.P302L	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00453)	11	1267	+			302			Pro-rich.		B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	c.905C>T	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	C	3.225	-0.158682	0.06544	.	.	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983	T;T;T;T;T;T;T	0.62232	0.06;0.06;0.04;0.06;0.06;0.04;0.06	4.18	3.29	0.37713	.	0.475492	0.17515	N	0.171467	T	0.45915	0.1366	L	0.38531	1.155	0.26901	N	0.967103	B;B;B;B	0.26400	0.148;0.0;0.0;0.148	B;B;B;B	0.18871	0.023;0.001;0.001;0.023	T	0.24905	-1.0147	10	0.21014	T	0.42	.	7.9995	0.30288	0.0:0.8866:0.0:0.1134	.	253;302;302;298	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	L	302;302;253;298;302;253;302	ENSP00000440384:P302L;ENSP00000374036:P302L;ENSP00000413254:P253L;ENSP00000448297:P298L;ENSP00000405357:P302L;ENSP00000450347:P253L;ENSP00000408889:P302L	ENSP00000374036:P302L	P	+	2	0	RPH3A	111797888	0.007000	0.16637	0.186000	0.23195	0.088000	0.18126	0.884000	0.28214	0.971000	0.38288	-0.126000	0.14955	CCG		0.577	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954	
SLC7A1	6541	broad.mit.edu	37	13	30110213	30110213	+	Missense_Mutation	SNP	A	A	G			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr13:30110213A>G	ENST00000380752.5	-	3	499	c.113T>C	c.(112-114)gTg>gCg	p.V38A		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	38					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CCCGAGGGCCACCAGATCAAA	0.627																																						uc001uso.3																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24						c.(112-114)gTg>gCg		Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 1 (SLC7A1), mRNA.	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						51.0	51.0	51.0					13																	30110213		2203	4300	6503	SO:0001583	missense	6541				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity	g.chr13:30110213A>G	AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"""Solute carriers"""	11057	protein-coding gene	gene with protein product	"""ecotropic retroviral receptor"", ""amino acid transporter, cationic 1"""	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.113T>C	13.37:g.30110213A>G	ENSP00000370128:p.Val38Ala						p.V38A	NM_003045	NP_003036	P30825	CTR1_HUMAN		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	2	500	-		Lung SC(185;0.0257)|Breast(139;0.238)	38					Q5JR50	Missense_Mutation	SNP	ENST00000380752.5	37	c.113T>C	CCDS9333.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.417041	0.83449	.	.	ENSG00000139514	ENST00000380752;ENST00000450494	D;D	0.89196	-2.48;-2.48	4.81	4.81	0.61882	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.92586	0.7645	M	0.67700	2.07	0.58432	D	0.999999	D	0.61697	0.99	D	0.63957	0.92	D	0.92875	0.6318	10	0.54805	T	0.06	.	13.6926	0.62556	1.0:0.0:0.0:0.0	.	38	P30825	CTR1_HUMAN	A	38	ENSP00000370128:V38A;ENSP00000390092:V38A	ENSP00000370128:V38A	V	-	2	0	SLC7A1	29008213	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	8.966000	0.93397	2.015000	0.59207	0.533000	0.62120	GTG		0.627	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044337.2	NM_003045	
SPERT	220082	broad.mit.edu	37	13	46287863	46287863	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr13:46287863G>A	ENST00000310521.1	+	3	783	c.703G>A	c.(703-705)Gcc>Acc	p.A235T	SPERT_ENST00000378966.3_Missense_Mutation_p.A199T	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	235						cytoplasmic membrane-bounded vesicle (GO:0016023)				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		GGACCACGTCGCCCTGCAGGT	0.677																																						uc001van.1																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15						c.(703-705)Gcc>Acc		Homo sapiens spermatid associated (SPERT), mRNA.							36.0	32.0	34.0					13																	46287863		2202	4299	6501	SO:0001583	missense	220082					cytoplasmic membrane-bounded vesicle		g.chr13:46287863G>A	AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"""spermatid flower-like structure protein"", ""testis specific leucine zipper protein nurit"", ""chibby homolog 2 (Drosophila)"""					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.703G>A	13.37:g.46287863G>A	ENSP00000309189:p.Ala235Thr					SPERT_uc001vao.2_Missense_Mutation_p.A199T	p.A235T	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)	2	783	+		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	235					A8K8I5|Q8NHV2	Missense_Mutation	SNP	ENST00000310521.1	37	c.703G>A	CCDS9399.1	.	.	.	.	.	.	.	.	.	.	G	5.484	0.274248	0.10403	.	.	ENSG00000174015	ENST00000310521;ENST00000378966	T;T	0.50813	0.84;0.73	5.16	0.248	0.15526	.	1.005240	0.08006	N	0.989534	T	0.25419	0.0618	N	0.12746	0.255	0.09310	N	1	B;B	0.23316	0.047;0.083	B;B	0.20577	0.03;0.03	T	0.23154	-1.0196	10	0.21540	T	0.41	.	5.2559	0.15546	0.3491:0.1444:0.5065:0.0	.	199;235	Q8NA61-2;Q8NA61	.;SPERT_HUMAN	T	235;199	ENSP00000309189:A235T;ENSP00000368249:A199T	ENSP00000309189:A235T	A	+	1	0	SPERT	45185864	0.005000	0.15991	0.000000	0.03702	0.123000	0.20343	1.442000	0.35046	0.342000	0.23796	0.655000	0.94253	GCC		0.677	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	NM_152719	
NPAP1	23742	broad.mit.edu	37	15	24921157	24921157	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr15:24921157G>A	ENST00000329468.2	+	1	617	c.143G>A	c.(142-144)cGc>cAc	p.R48H		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	48					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CGCCCTTTCCGCGGCCTGTTC	0.761																																						uc001ywo.3																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140						c.(142-144)cGc>cAc		Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.							12.0	15.0	14.0					15																	24921157		2141	4175	6316	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24921157G>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.143G>A	15.37:g.24921157G>A	ENSP00000333735:p.Arg48His						p.R48H	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	0	617	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	48						Missense_Mutation	SNP	ENST00000329468.2	37	c.143G>A	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	8.450	0.852953	0.17106	.	.	ENSG00000185823	ENST00000329468	T	0.09445	2.98	2.3	-1.83	0.07833	.	.	.	.	.	T	0.05593	0.0147	L	0.29908	0.895	0.09310	N	1	B	0.16802	0.019	B	0.04013	0.001	T	0.45425	-0.9262	9	0.12766	T	0.61	.	2.9734	0.05929	0.4028:0.2506:0.3466:0.0	.	48	Q9NZP6	CO002_HUMAN	H	48	ENSP00000333735:R48H	ENSP00000333735:R48H	R	+	2	0	C15orf2	22472250	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.875000	0.04205	-0.434000	0.07275	-0.350000	0.07774	CGC		0.761	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958	
SPPL2A	84888	broad.mit.edu	37	15	51031880	51031880	+	Silent	SNP	A	A	G			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr15:51031880A>G	ENST00000261854.5	-	6	1004	c.730T>C	c.(730-732)Ttg>Ctg	p.L244L		NM_032802.3	NP_116191.2	Q8TCT8	SPP2A_HUMAN	signal peptide peptidase like 2A	244					membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	extracellular vesicular exosome (GO:0070062)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		TTCTTACCCAACCATTTGTAG	0.308																																					Melanoma(50;790 1209 4069 22965 33125)	uc001zyv.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(730-732)Ttg>Ctg		Homo sapiens signal peptide peptidase-like 2A (SPPL2A), mRNA.							128.0	123.0	125.0					15																	51031880		2196	4292	6488	SO:0001819	synonymous_variant	84888					integral to membrane	aspartic-type endopeptidase activity	g.chr15:51031880A>G		CCDS10138.1	15q21.2	2012-02-21			ENSG00000138600	ENSG00000138600			30227	protein-coding gene	gene with protein product	"""intramembrane protease 3"", ""presenilin-like protein 2"""	608238				12077416, 12139484	Standard	NM_032802		Approved	IMP3, PSL2	uc001zyv.3	Q8TCT8	OTTHUMG00000131647	ENST00000261854.5:c.730T>C	15.37:g.51031880A>G							p.L244L	NM_032802	NP_116191	Q8TCT8	PSL2_HUMAN		all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)	5	910	-			244					B2RDS0|Q8TAW1|Q96SZ8	Silent	SNP	ENST00000261854.5	37	c.730T>C	CCDS10138.1																																																																																				0.308	SPPL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254543.3	NM_032802	
LARP6	55323	broad.mit.edu	37	15	71128745	71128745	+	Silent	SNP	G	G	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr15:71128745G>A	ENST00000299213.8	-	2	370	c.300C>T	c.(298-300)atC>atT	p.I100I		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	100	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				regulation of translation (GO:0006417)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						AGTAGAATTCGATCTGATCCA	0.502																																						uc002ass.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						c.(298-300)atC>atT		Homo sapiens La ribonucleoprotein domain family, member 6 (LARP6), transcript variant 1, mRNA.							122.0	121.0	122.0					15																	71128745		2199	4297	6496	SO:0001819	synonymous_variant	55323				RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr15:71128745G>A	BC009446	CCDS10236.1, CCDS32281.1	15q23	2012-11-19			ENSG00000166173	ENSG00000166173		"""La ribonucleoprotein domain containing"""	24012	protein-coding gene	gene with protein product		611300				12477932	Standard	NM_018357		Approved	acheron, FLJ11196	uc002ass.3	Q9BRS8	OTTHUMG00000172179	ENST00000299213.8:c.300C>T	15.37:g.71128745G>A							p.I100I	NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN			1	371	-			100			HTH La-type RNA-binding.		Q5XKE4|Q8N3N2|Q9NUR0	Silent	SNP	ENST00000299213.8	37	c.300C>T	CCDS32281.1																																																																																				0.502	LARP6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417197.2	NM_018357	
MSLNL	401827	broad.mit.edu	37	16	820272	820272	+	Missense_Mutation	SNP	C	C	T	rs548772489		TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr16:820272C>T	ENST00000442466.1	-	14	1659	c.1660G>A	c.(1660-1662)Gtg>Atg	p.V554M	MSLNL_ENST00000293892.3_Missense_Mutation_p.V905M|MIR662_ENST00000384847.1_RNA			Q96KJ4	MSLNL_HUMAN	mesothelin-like	554					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						AGCGCAGTCACGTTGCCAACA	0.692													.|||	1	0.000199681	0.0	0.0	5008	,	,		9924	0.0		0.0	False		,,,				2504	0.001					uc002cjz.1																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						c.(2713-2715)Gtg>Atg		Homo sapiens mesothelin-like (MSLNL), mRNA.							14.0	13.0	13.0					16																	820272		2171	4258	6429	SO:0001583	missense	401827				cell adhesion	integral to membrane		g.chr16:820272C>T			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.1660G>A	16.37:g.820272C>T	ENSP00000415767:p.Val554Met					MIR662_uc021tac.1_Non-coding_Transcript	p.V905M	NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN			14	2713	-			554						Missense_Mutation	SNP	ENST00000442466.1	37	c.2713G>A		.	.	.	.	.	.	.	.	.	.	c	15.53	2.862191	0.51482	.	.	ENSG00000162006	ENST00000543963;ENST00000442466;ENST00000293892	T;T;T	0.18338	2.22;2.22;2.22	4.7	4.7	0.59300	.	0.000000	0.64402	D	0.000001	T	0.18964	0.0455	.	.	.	0.31162	N	0.704282	P	0.44521	0.837	B	0.42593	0.392	T	0.08700	-1.0709	9	0.62326	D	0.03	-39.0589	13.31	0.60374	0.0:1.0:0.0:0.0	.	554	Q96KJ4	MSLNL_HUMAN	M	604;554;905	ENSP00000441381:V604M;ENSP00000415767:V554M;ENSP00000293892:V905M	ENSP00000293892:V905M	V	-	1	0	MSLNL	760273	0.980000	0.34600	0.629000	0.29254	0.005000	0.04900	2.243000	0.43115	2.608000	0.88229	0.543000	0.68304	GTG		0.692	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190	
OSGIN1	29948	broad.mit.edu	37	16	83994249	83994249	+	Missense_Mutation	SNP	C	C	T	rs62640906	byFrequency	TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr16:83994249C>T	ENST00000343939.2	+	5	912	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	OSGIN1_ENST00000565123.1_Missense_Mutation_p.R94C|OSGIN1_ENST00000361711.3_Missense_Mutation_p.R94C|OSGIN1_ENST00000393306.1_Missense_Mutation_p.R94C			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	177					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)		growth factor activity (GO:0008083)			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						TGCCCTTCTACGCCCAGACAC	0.632																																						uc002fha.3																			0				autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(529-531)Cgc>Tgc		Homo sapiens oxidative stress induced growth inhibitor 1 (OSGIN1), nuclear gene encoding mitochondrial protein, mRNA.							62.0	59.0	60.0					16																	83994249		2200	4300	6500	SO:0001583	missense	29948				cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity	g.chr16:83994249C>T	AY258066	CCDS10939.1	16q23.3	2010-11-23			ENSG00000140961	ENSG00000140961			30093	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived growth inhibitor"", ""pregnancy induced growth inhibitor"""	607975				11459809, 14570898	Standard	NM_182981		Approved	BDGI, OKL38	uc002fhc.3	Q9UJX0	OTTHUMG00000137640	ENST00000343939.2:c.529C>T	16.37:g.83994249C>T	ENSP00000343376:p.Arg177Cys					OSGIN1_uc002fhb.3_Missense_Mutation_p.R94C|OSGIN1_uc002fhc.3_Missense_Mutation_p.R94C	p.R177C	NM_182981	NP_892026	Q9UJX0	OSGI1_HUMAN			4	529	+			177					Q52M33|Q86UQ1|Q96S88|Q9BZ70	Missense_Mutation	SNP	ENST00000343939.2	37	c.529C>T		.	.	.	.	.	.	.	.	.	.	C	20.8	4.042544	0.75732	.	.	ENSG00000140961	ENST00000343939;ENST00000361711;ENST00000393306	T;T;T	0.28069	2.58;1.63;1.63	4.85	4.85	0.62838	.	0.066452	0.64402	D	0.000012	T	0.46210	0.1381	L	0.54965	1.715	0.53688	D	0.99997	D	0.89917	1.0	P	0.62184	0.899	T	0.45440	-0.9261	10	0.87932	D	0	.	12.1017	0.53788	0.1717:0.8283:0.0:0.0	.	177	Q9UJX0	OSGI1_HUMAN	C	177;94;94	ENSP00000343376:R177C;ENSP00000355374:R94C;ENSP00000376983:R94C	ENSP00000343376:R177C	R	+	1	0	OSGIN1	82551750	1.000000	0.71417	1.000000	0.80357	0.659000	0.38960	4.767000	0.62286	2.228000	0.72767	0.491000	0.48974	CGC		0.632	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1	NM_013370	
RP11-64J4.2	0	broad.mit.edu	37	17	3214529	3214529	+	RNA	SNP	G	G	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr17:3214529G>A	ENST00000573491.1	-	0	359																		p.D309N(1)									CTGTTCCTCCGATGCTGGCGT	0.587																																						uc002fvi.2																			1	Substitution - Missense(1)	p.D309N(1)	large_intestine(1)								c.(925-927)Gat>Aat		Homo sapiens olfactory receptor, family 3, subfamily A, member 4 pseudogene (OR3A4P), non-coding RNA.							181.0	149.0	160.0					17																	3214529		2203	4300	6503			390756							g.chr17:3214529G>A																													17.37:g.3214529G>A							p.D309N							0	991	+									Missense_Mutation	SNP	ENST00000573491.1	37	c.925G>A																																																																																					0.587	RP11-64J4.2-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000438371.1		
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	uc002gim.2	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(1040)|p.R273C(471)|p.R273L(185)|p.V272M(75)|p.R273P(63)|p.V272L(26)|p.R273S(15)|p.R273G(9)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.V272G(5)|p.R273fs*72(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*33(3)|p.R273fs*32(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.S269fs*21(1)|p.V272>?(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)cGt>cAt	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							67.0	58.0	61.0					17																	7577120		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577120C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.R273H	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	1012	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.818G>A	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
KIAA0100	9703	broad.mit.edu	37	17	26939067	26939067	+	IGR	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr17:26939067C>T	ENST00000528896.2	-	0	7407				RP11-192H23.6_ENST00000579019.2_RNA|SGK494_ENST00000301037.5_Missense_Mutation_p.V230M|SPAG5-AS1_ENST00000554154.1_RNA|SPAG5-AS1_ENST00000424210.1_RNA|SGK494_ENST00000469832.3_5'Flank|SPAG5-AS1_ENST00000414744.1_RNA|RP11-192H23.4_ENST00000577790.1_Intron|RP11-192H23.4_ENST00000534850.1_Missense_Mutation_p.M171I	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100							extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TCTACCTTCACATCTCGATGC	0.443																																						uc010crq.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(688-690)Gtg>Atg		Homo sapiens uncharacterized serine/threonine-protein kinase SgK494 (SGK494), mRNA.							125.0	120.0	122.0					17																	26939067		2203	4300	6503	SO:0001628	intergenic_variant	124923				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	g.chr17:26939067C>T	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587		17.37:g.26939067C>T						SPAG5_uc010waq.1_Intron|SPAG5-AS1_uc021tts.1_Intron|SPAG5_uc010war.1_Non-coding_Transcript|SPAG5_uc021ttt.1_Missense_Mutation_p.V230M	p.V230M	NM_001174103	NP_001167574	Q96R06	SPAG5_HUMAN			6	720	-	Lung NSC(42;0.00431)		1019					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.688G>A	CCDS32595.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.49|16.49	3.138350|3.138350	0.56936|0.56936	.|.	.|.	ENSG00000167524|ENSG00000167524	ENST00000481916;ENST00000534850|ENST00000301037	.|T	.|0.08984	.|3.03	5.97|5.97	4.95|4.95	0.65309|0.65309	.|Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.64402	.|D	.|0.000002	T|T	0.20373|0.20373	0.0490|0.0490	L|L	0.41492|0.41492	1.28|1.28	0.46823|0.46823	D|D	0.99921|0.99921	.|D	.|0.55605	.|0.972	.|P	.|0.62089	.|0.898	T|T	0.00131|0.00131	-1.2013|-1.2013	6|10	0.87932|0.87932	D;D|D	0;0|0	-11.3847|-11.3847	17.9992|17.9992	0.89194|0.89194	0.0:0.8694:0.1306:0.0|0.0:0.8694:0.1306:0.0	.|.	.|230	.|Q96LW2	.|SG494_HUMAN	I|M	171|230	.|ENSP00000301037:V230M	ENSP00000436369:M171I;ENSP00000436369:M171I|ENSP00000301037:V230M	M|V	-|-	3|1	0|0	AC005726.6|AC005726.6	23963194|23963194	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.028000|3.028000	0.49705|0.49705	2.837000|2.837000	0.97791|0.97791	0.655000|0.655000	0.94253|0.94253	ATG|GTG		0.443	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680	
KIF2B	84643	broad.mit.edu	37	17	51901460	51901460	+	Missense_Mutation	SNP	T	T	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr17:51901460T>A	ENST00000268919.4	+	1	1222	c.1066T>A	c.(1066-1068)Ttt>Att	p.F356I		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	356	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTATGGGACATTTTTTGAGAT	0.453																																						uc002iua.2																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(1066-1068)Ttt>Att		Homo sapiens kinesin family member 2B (KIF2B), mRNA.							98.0	103.0	102.0					17																	51901460		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901460T>A	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1066T>A	17.37:g.51901460T>A	ENSP00000268919:p.Phe356Ile					KIF2B_uc010wna.1_Non-coding_Transcript	p.F356I	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			0	1222	+			356			Kinesin-motor.		Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.1066T>A	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.350886	0.82132	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.75938	-0.98	5.63	5.63	0.86233	Kinesin, motor domain (4);	0.000000	0.56097	D	0.000037	D	0.85818	0.5785	M	0.89353	3.025	0.46336	D	0.998993	D	0.65815	0.995	P	0.58391	0.838	D	0.88566	0.3126	10	0.87932	D	0	.	13.5087	0.61499	0.0:0.0:0.0:1.0	.	356	Q8N4N8	KIF2B_HUMAN	I	356;244	ENSP00000268919:F356I	ENSP00000268919:F356I	F	+	1	0	KIF2B	49256459	1.000000	0.71417	0.985000	0.45067	0.997000	0.91878	5.142000	0.64820	2.258000	0.74832	0.533000	0.62120	TTT		0.453	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559	
USH1G	124590	broad.mit.edu	37	17	72916669	72916669	+	Missense_Mutation	SNP	C	C	T	rs368407264		TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr17:72916669C>T	ENST00000319642.1	-	2	444	c.262G>A	c.(262-264)Gga>Aga	p.G88R		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	88					equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)		HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					ATGTTGGCTCCGAAGGACACC	0.602																																						uc002jme.1																		HN1/USH1G(2)	0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14						c.(262-264)Gga>Aga		Homo sapiens Usher syndrome 1G (autosomal recessive) (USH1G), mRNA.		C	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	114.0	95.0	101.0		262	3.8	1.0	17		101	0,8600		0,0,4300	no	missense	USH1G	NM_173477.2	125	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	88/462	72916669	1,13005	2203	4300	6503	SO:0001583	missense	124590				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton		g.chr17:72916669C>T	AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.262G>A	17.37:g.72916669C>T	ENSP00000320076:p.Gly88Arg					USH1G_uc010wro.1_5'UTR	p.G88R	NM_173477	NP_775748	Q495M9	USH1G_HUMAN			1	445	-	all_lung(278;0.172)|Lung NSC(278;0.207)		88					Q8N251	Missense_Mutation	SNP	ENST00000319642.1	37	c.262G>A	CCDS32725.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.678081	0.47886	2.27E-4	0.0	ENSG00000182040	ENST00000319642	T	0.53857	0.6	3.8	3.8	0.43715	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.74913	0.3779	M	0.85099	2.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81077	-0.1096	10	0.72032	D	0.01	-30.197	16.2003	0.82067	0.0:1.0:0.0:0.0	.	88	Q495M9	USH1G_HUMAN	R	88	ENSP00000320076:G88R	ENSP00000320076:G88R	G	-	1	0	USH1G	70428264	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.559000	0.82265	2.118000	0.64928	0.313000	0.20887	GGA		0.602	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443676.1	NM_173477	
DNAH17	8632	broad.mit.edu	37	17	76502887	76502887	+	Missense_Mutation	SNP	G	G	A	rs555541435		TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr17:76502887G>A	ENST00000585328.1	-	30	4833	c.4709C>T	c.(4708-4710)aCg>aTg	p.T1570M	DNAH17_ENST00000389840.5_Missense_Mutation_p.T1569M	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1569	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.T1570M(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CAGTCTTTTCGTCTCTAAATA	0.557													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18410	0.0		0.0	False		,,,				2504	0.0					uc010dhp.2																			1	Substitution - Missense(1)	p.T1570M(1)	prostate(1)	NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(4717-4719)aCg>aTg		Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.							85.0	90.0	89.0					17																	76502887		1911	4111	6022	SO:0001583	missense	8632							g.chr17:76502887G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.4709C>T	17.37:g.76502887G>A	ENSP00000465516:p.Thr1570Met						p.T1573M	NM_173628	NP_775899			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		29	4843	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.4718C>T		.	.	.	.	.	.	.	.	.	.	G	17.73	3.460721	0.63513	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.62788	0.0	4.99	4.99	0.66335	Dynein heavy chain, domain-2 (1);	.	.	.	.	D	0.82609	0.5074	M	0.91459	3.21	0.53005	D	0.999964	D	0.65815	0.995	D	0.63381	0.914	D	0.87338	0.2329	9	0.87932	D	0	.	18.259	0.90028	0.0:0.0:1.0:0.0	.	1569	Q9UFH2	DYH17_HUMAN	M	1570;1569	ENSP00000374490:T1569M	ENSP00000300671:T1570M	T	-	2	0	DNAH17	74014482	1.000000	0.71417	0.945000	0.38365	0.046000	0.14306	9.259000	0.95561	2.279000	0.76181	0.655000	0.94253	ACG		0.557	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628	
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T	rs201788045		TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358																																						uc010dln.3																			12	Substitution - Missense(12)	p.R477Q(24)	endometrium(4)|kidney(3)|urinary_tract(2)|prostate(2)|soft_tissue(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1429-1431)cGg>cAg		Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.							13.0	9.0	10.0					18																	14513764		683	1543	2226	SO:0001583	missense	388468							g.chr18:14513764C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1430G>A	18.37:g.14513764C>T	ENSP00000351856:p.Arg477Gln					POTEC_uc010xaj.2_Non-coding_Transcript	p.R477Q	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			9	1884	-			477						Missense_Mutation	SNP	ENST00000358970.5	37	c.1430G>A	CCDS45835.1	492	0.22527472527472528	61	0.12398373983739837	82	0.2265193370165746	187	0.3269230769230769	162	0.21372031662269128	c	0.001	-3.539655	0.00009	.	.	ENSG00000183206	ENST00000358970	T	0.20881	2.04	1.34	0.0657	0.14358	.	.	.	.	.	T	0.00012	0.0000	N	0.00116	-2.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42430	-0.9452	9	0.06757	T	0.87	.	3.4153	0.07373	0.0:0.2473:0.0:0.7527	.	477	B2RU33	POTEC_HUMAN	Q	477	ENSP00000351856:R477Q	ENSP00000351856:R477Q	R	-	2	0	POTEC	14503764	0.885000	0.30320	0.063000	0.19743	0.005000	0.04900	1.581000	0.36558	0.005000	0.14708	-1.615000	0.00797	CGG		0.358	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269	
POLRMT	5442	broad.mit.edu	37	19	619972	619972	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr19:619972C>T	ENST00000588649.2	-	12	2956	c.2872G>A	c.(2872-2874)Ggc>Agc	p.G958S	AC005559.2_ENST00000591847.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	958	Mediates interaction with TEFM.				gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)	p.G958S(1)		cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGCCACGCCGCTGTACACG	0.701																																						uc002lpf.1																			1	Substitution - Missense(1)	p.G958S(2)	lung(1)	cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20						c.(2872-2874)Ggc>Agc		Homo sapiens polymerase (RNA) mitochondrial (DNA directed) (POLRMT), nuclear gene encoding mitochondrial protein, mRNA.							13.0	14.0	14.0					19																	619972		2170	4281	6451	SO:0001583	missense	5442				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr19:619972C>T		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.2872G>A	19.37:g.619972C>T	ENSP00000465759:p.Gly958Ser						p.G958S	NM_005035	NP_005026	O00411	RPOM_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)	11	2928	-		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	958			Mediates interaction with TEFM.		O60370	Missense_Mutation	SNP	ENST00000588649.2	37	c.2872G>A	CCDS12036.1	.	.	.	.	.	.	.	.	.	.	.	12.02	1.812856	0.32053	.	.	ENSG00000099821	ENST00000215591	T	0.42513	0.97	4.21	3.16	0.36331	.	0.386351	0.27831	N	0.017663	T	0.37489	0.1005	M	0.71581	2.175	0.09310	N	1	B	0.31519	0.327	B	0.24394	0.053	T	0.32134	-0.9918	10	0.49607	T	0.09	-27.8904	8.7418	0.34562	0.0:0.7608:0.1512:0.0879	.	958	O00411	RPOM_HUMAN	S	958	ENSP00000215591:G958S	ENSP00000215591:G958S	G	-	1	0	POLRMT	570972	0.027000	0.19231	0.009000	0.14445	0.016000	0.09150	1.872000	0.39549	0.882000	0.36016	0.448000	0.29417	GGC		0.701	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035	
SIPA1L3	23094	broad.mit.edu	37	19	38655177	38655177	+	Missense_Mutation	SNP	G	G	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr19:38655177G>T	ENST00000222345.6	+	15	4348	c.3839G>T	c.(3838-3840)aGc>aTc	p.S1280I		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1280					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AACGCATCCAGCAGCCACAGC	0.607																																						uc002ohk.3																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(3838-3840)aGc>aTc		Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.							83.0	78.0	80.0					19																	38655177		2203	4300	6503	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38655177G>T	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.3839G>T	19.37:g.38655177G>T	ENSP00000222345:p.Ser1280Ile						p.S1280I	NM_015073	NP_055888	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		14	4348	+			1280					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.3839G>T	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782303	0.90282	.	.	ENSG00000105738	ENST00000222345	T	0.56611	0.45	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.70237	0.3201	M	0.67397	2.05	0.58432	D	0.999997	D	0.89917	1.0	D	0.72075	0.976	T	0.74990	-0.3475	10	0.87932	D	0	-27.3642	16.0588	0.80822	0.0:0.0:1.0:0.0	.	1280	O60292	SI1L3_HUMAN	I	1280	ENSP00000222345:S1280I	ENSP00000222345:S1280I	S	+	2	0	SIPA1L3	43347017	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.415000	0.97375	2.055000	0.61198	0.650000	0.86243	AGC		0.607	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278	
LILRB2	10288	broad.mit.edu	37	19	54780739	54780739	+	Missense_Mutation	SNP	C	C	T	rs200943350	byFrequency	TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr19:54780739C>T	ENST00000391749.4	-	10	1676	c.1405G>A	c.(1405-1407)Gtc>Atc	p.V469I	LILRB2_ENST00000391746.1_Missense_Mutation_p.V469I|LILRB2_ENST00000314446.5_Missense_Mutation_p.V468I|LILRB2_ENST00000391748.1_Missense_Mutation_p.V468I|LILRB2_ENST00000434421.1_Missense_Mutation_p.V353I|LILRB2_ENST00000471216.1_5'Flank	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	469					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		agtaggaCGACGGCCACCAAG	0.577													.|||	2	0.000399361	0.0	0.0014	5008	,	,		17302	0.001		0.0	False		,,,				2504	0.0					uc002qfb.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1405-1407)Gtc>Atc		Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.							231.0	161.0	185.0					19																	54780739		2203	4300	6503	SO:0001583	missense	10288				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54780739C>T	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1405G>A	19.37:g.54780739C>T	ENSP00000375629:p.Val469Ile					LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Missense_Mutation_p.V469I|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.V468I|LILRB2_uc010yet.2_Missense_Mutation_p.V353I	p.V469I	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	9	1671	-	Ovarian(34;0.19)		469					A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	c.1405G>A	CCDS12886.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	3.146	-0.175184	0.06421	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746;ENST00000434421	T;T;T;T;T	0.00502	7.05;7.05;7.0;7.05;6.95	1.5	-1.24	0.09435	.	1.922890	0.03993	U	0.295112	T	0.00210	0.0006	N	0.03930	-0.32	0.09310	N	1	P;B;B	0.37352	0.591;0.313;0.396	B;B;B	0.25140	0.058;0.058;0.041	T	0.33214	-0.9877	10	0.30078	T	0.28	.	2.3973	0.04393	0.4488:0.2803:0.0:0.2709	.	469;485;469	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	I	468;468;469;469;353	ENSP00000375628:V468I;ENSP00000319960:V468I;ENSP00000375629:V469I;ENSP00000375626:V469I;ENSP00000410117:V353I	ENSP00000319960:V468I	V	-	1	0	LILRB2	59472551	0.000000	0.05858	0.008000	0.14137	0.004000	0.04260	-0.433000	0.06948	-0.410000	0.07542	-1.499000	0.00960	GTC		0.577	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1		
LENG8	114823	broad.mit.edu	37	19	54967251	54967251	+	Silent	SNP	T	T	G			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr19:54967251T>G	ENST00000326764.5	+	9	1610	c.1131T>G	c.(1129-1131)ggT>ggG	p.G377G	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	340	Ser-rich.							p.G377G(2)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GGGGCGGGGGTGCCCCGTCCC	0.687																																						uc002qfv.1																			2	Substitution - coding silent(2)	p.G377G(2)	urinary_tract(1)|central_nervous_system(1)	breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(1018-1020)ggT>ggG		Homo sapiens leukocyte receptor cluster (LRC) member 8 (LENG8), mRNA.																																				SO:0001819	synonymous_variant	114823						protein binding	g.chr19:54967251T>G	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.1131T>G	19.37:g.54967251T>G						LENG8_uc002qfw.2_Silent_p.G377G	p.G340G			Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	7	1164	+	Ovarian(34;0.19)		340					B0VJY9|Q8IZ27|Q8NCX6	Silent	SNP	ENST00000326764.5	37	c.1020T>G	CCDS12894.1																																																																																				0.687	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925	
LILRB1	10859	broad.mit.edu	37	19	55146136	55146136	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr19:55146136G>A	ENST00000396331.1	+	11	1762	c.1405G>A	c.(1405-1407)Gtc>Atc	p.V469I	LILRB1_ENST00000418536.2_Missense_Mutation_p.V453I|LILRB1_ENST00000434867.2_Missense_Mutation_p.V469I|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_Missense_Mutation_p.V469I|LILRB1_ENST00000324602.7_Missense_Mutation_p.V470I|LILRB1_ENST00000448689.1_Missense_Mutation_p.V469I|LILRB1_ENST00000396317.1_Missense_Mutation_p.V453I|LILRB1_ENST00000396315.1_Missense_Mutation_p.V470I|LILRB1_ENST00000396327.3_Missense_Mutation_p.V470I|LILRB1_ENST00000396332.4_Missense_Mutation_p.V469I|LILRB1_ENST00000427581.2_Missense_Mutation_p.V519I	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	469					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CTTGGTGGCCGTCAtcctact	0.577										HNSCC(37;0.09)																												uc002qgj.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(1405-1407)Gtc>Atc		Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.							161.0	128.0	139.0					19																	55146136		2203	4300	6503	SO:0001583	missense	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55146136G>A	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1405G>A	19.37:g.55146136G>A	ENSP00000379622:p.Val469Ile	HNSCC(37;0.09)				LILRB1_uc010erp.1_Missense_Mutation_p.V84I|LILRB1_uc002qgl.3_Missense_Mutation_p.V469I|LILRB1_uc002qgk.3_Missense_Mutation_p.V470I|LILRB1_uc002qgm.3_Missense_Mutation_p.V470I|LILRB1_uc010erq.3_Missense_Mutation_p.V453I|LILRB1_uc010err.3_Non-coding_Transcript	p.V469I	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	10	1745	+			469					A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.1405G>A	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	G	5.665	0.307299	0.10733	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.00488	7.16;7.14;7.04;7.16;7.1;7.1;7.16;7.16;7.13;7.14;7.1	1.81	-0.544	0.11847	.	27.716100	0.01102	U	0.005381	T	0.00241	0.0007	N	0.05330	-0.07	0.09310	N	1	B;B;B;B;B;B	0.34200	0.019;0.327;0.441;0.029;0.25;0.313	B;B;B;B;B;B	0.31101	0.007;0.048;0.124;0.007;0.03;0.085	T	0.34502	-0.9826	10	0.41790	T	0.15	.	2.652	0.05002	0.2615:0.0:0.2723:0.4662	.	453;469;470;469;470;469	A8MVE2;D9IDM5;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;.;LIRB1_HUMAN	I	469;453;469;469;470;470;469;469;519;453;470	ENSP00000379614:V469I;ENSP00000391514:V453I;ENSP00000409968:V469I;ENSP00000379622:V469I;ENSP00000379618:V470I;ENSP00000315997:V470I;ENSP00000405243:V469I;ENSP00000379623:V469I;ENSP00000395004:V519I;ENSP00000379610:V453I;ENSP00000379608:V470I	ENSP00000315997:V470I	V	+	1	0	LILRB1	59837948	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-1.303000	0.02743	-0.231000	0.09825	-1.262000	0.01453	GTC		0.577	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4		
TEKT4	150483	broad.mit.edu	37	2	95539765	95539765	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr2:95539765G>A	ENST00000295201.4	+	3	762	c.625G>A	c.(625-627)Gcc>Acc	p.A209T	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	209					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CAAGATGGAGGCCTACAACAT	0.652																																						uc002stw.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(625-627)Gcc>Acc		Homo sapiens tektin 4 (TEKT4), mRNA.							91.0	88.0	89.0					2																	95539765		2203	4300	6503	SO:0001583	missense	150483				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr2:95539765G>A	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.625G>A	2.37:g.95539765G>A	ENSP00000295201:p.Ala209Thr					LOC442028_uc021vlc.1_Intron|LOC442028_uc002stv.1_Intron|TEKT4_uc010fhr.1_Non-coding_Transcript	p.A209T	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN			2	718	+			209						Missense_Mutation	SNP	ENST00000295201.4	37	c.625G>A	CCDS2005.1	.	.	.	.	.	.	.	.	.	.	.	11.64	1.698589	0.30142	.	.	ENSG00000163060	ENST00000295201	T	0.06371	3.31	2.24	0.737	0.18314	.	0.182863	0.48286	D	0.000197	T	0.06096	0.0158	L	0.52011	1.625	0.80722	D	1	B	0.28324	0.207	B	0.32465	0.146	T	0.31081	-0.9956	10	0.30078	T	0.28	-12.2838	5.2204	0.15366	0.3102:0.0:0.6898:0.0	.	209	Q8WW24	TEKT4_HUMAN	T	209	ENSP00000295201:A209T	ENSP00000295201:A209T	A	+	1	0	TEKT4	94903492	1.000000	0.71417	0.997000	0.53966	0.123000	0.20343	1.910000	0.39927	0.941000	0.37499	0.306000	0.20318	GCC		0.652	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705	
MARCO	8685	broad.mit.edu	37	2	119752091	119752091	+	Missense_Mutation	SNP	G	G	A	rs200590124	byFrequency	TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr2:119752091G>A	ENST00000327097.4	+	17	1693	c.1558G>A	c.(1558-1560)Gtc>Atc	p.V520I	MARCO_ENST00000541757.1_Missense_Mutation_p.V442I	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	520					apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)	p.V520I(3)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGAGTGCAGCGTCTGACCCGG	0.602													G|||	2	0.000399361	0.0	0.0	5008	,	,		19902	0.001		0.001	False		,,,				2504	0.0				GBM(8;18 374 7467 11269 32796)	uc002tln.1																			3	Substitution - Missense(3)	p.V520I(6)	large_intestine(1)|lung(1)|breast(1)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						c.(1558-1560)Gtc>Atc		Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.		G	ILE/VAL	0,4406		0,0,2203	113.0	88.0	96.0		1558	-1.5	0.0	2		96	1,8599	1.2+/-3.3	0,1,4299	yes	missense	MARCO	NM_006770.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	520/521	119752091	1,13005	2203	4300	6503	SO:0001583	missense	8685				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	g.chr2:119752091G>A	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.1558G>A	2.37:g.119752091G>A	ENSP00000318916:p.Val520Ile					MARCO_uc010yyf.1_Missense_Mutation_p.V442I	p.V520I	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN			16	1690	+			520					B4DW79|Q9Y5S3	Missense_Mutation	SNP	ENST00000327097.4	37	c.1558G>A	CCDS2124.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	G	0.017	-1.509622	0.00984	0.0	1.16E-4	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757	D;D	0.90788	-2.73;-2.69	0.758	-1.52	0.08637	.	.	.	.	.	D	0.85427	0.5694	M	0.65677	2.01	0.09310	N	1	P	0.42692	0.787	B	0.35240	0.198	T	0.71583	-0.4549	8	.	.	.	.	6.6215	0.22806	0.3734:0.0:0.6266:0.0	.	520	Q9UEW3	MARCO_HUMAN	I	520;466;442	ENSP00000318916:V520I;ENSP00000441769:V442I	.	V	+	1	0	MARCO	119468561	0.003000	0.15002	0.007000	0.13788	0.002000	0.02628	-0.355000	0.07671	-2.165000	0.00781	-2.299000	0.00261	GTC		0.602	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770	
NEB	4703	broad.mit.edu	37	2	152484105	152484105	+	Missense_Mutation	SNP	C	C	T	rs374359052		TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr2:152484105C>T	ENST00000172853.10	-	65	9493	c.9346G>A	c.(9346-9348)Gag>Aag	p.E3116K	NEB_ENST00000409198.1_Missense_Mutation_p.E3116K|NEB_ENST00000603639.1_Missense_Mutation_p.E3359K|NEB_ENST00000397345.3_Missense_Mutation_p.E3359K|NEB_ENST00000604864.1_Missense_Mutation_p.E3359K|NEB_ENST00000427231.2_Missense_Mutation_p.E3359K			P20929	NEBU_HUMAN	nebulin	3116					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CACGTCCACTCGTGCAGGTAG	0.532																																						uc021vrb.1																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(9346-9348)Gag>Aag		Homo sapiens nebulin (NEB), transcript variant 3, mRNA.		C	LYS/GLU,LYS/GLU,LYS/GLU	1,4223		0,1,2111	271.0	268.0	269.0		9346,10075,10075	1.6	1.0	2		269	0,8438		0,0,4219	no	missense,missense,missense	NEB	NM_004543.4,NM_001164508.1,NM_001164507.1	56,56,56	0,1,6330	TT,TC,CC		0.0,0.0237,0.0079	benign,benign,benign	3116/6670,3359/8526,3359/8526	152484105	1,12661	2112	4219	6331	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152484105C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.9346G>A	2.37:g.152484105C>T	ENSP00000172853:p.Glu3116Lys					NEB_uc002txu.3_Missense_Mutation_p.E3359K|NEB_uc021vrc.1_Missense_Mutation_p.E3359K|NEB_uc010fnx.3_Missense_Mutation_p.E3104K|NEB_uc021vrd.1_Missense_Mutation_p.E3116K	p.E3116K	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	63	9375	-			3116					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.9346G>A		.	.	.	.	.	.	.	.	.	.	C	12.73	2.026652	0.35797	2.37E-4	0.0	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	5.58	1.63	0.23807	.	0.222816	0.46442	D	0.000300	T	0.20780	0.0500	N	0.12182	0.205	0.80722	D	1	B	0.12013	0.005	B	0.09377	0.004	T	0.06972	-1.0797	10	0.10636	T	0.68	.	18.2507	0.90002	0.0:0.4579:0.5421:0.0	.	3116	P20929	NEBU_HUMAN	K	3116;3359;3359;3116	ENSP00000386259:E3116K;ENSP00000380505:E3359K;ENSP00000416578:E3359K;ENSP00000172853:E3116K	ENSP00000172853:E3116K	E	-	1	0	NEB	152192351	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.587000	0.23909	0.309000	0.22966	-0.796000	0.03273	GAG		0.532	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
LRP2	4036	broad.mit.edu	37	2	170044684	170044684	+	Missense_Mutation	SNP	C	C	T	rs376039022		TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr2:170044684C>T	ENST00000263816.3	-	49	9409	c.9124G>A	c.(9124-9126)Ggg>Agg	p.G3042R		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3042	LDL-receptor class A 24. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ATGCAGCGCCCGTTCTGACAG	0.512																																						uc002ues.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(9124-9126)Ggg>Agg		Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	C	ARG/GLY	0,4406		0,0,2203	142.0	135.0	137.0		9124	5.7	0.4	2		137	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRP2	NM_004525.2	125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	3042/4656	170044684	1,13005	2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170044684C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.9124G>A	2.37:g.170044684C>T	ENSP00000263816:p.Gly3042Arg						p.G3042R	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	48	9337	-			3042			LDL-receptor class A 24.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.9124G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698976	0.88830	0.0	1.16E-4	ENSG00000081479	ENST00000263816	D	0.92805	-3.11	5.68	5.68	0.88126	.	0.049651	0.85682	D	0.000000	D	0.96052	0.8714	M	0.85542	2.76	0.80722	D	1	D	0.67145	0.996	P	0.61003	0.882	D	0.95373	0.8466	10	0.45353	T	0.12	.	19.7861	0.96437	0.0:1.0:0.0:0.0	.	3042	P98164	LRP2_HUMAN	R	3042	ENSP00000263816:G3042R	ENSP00000263816:G3042R	G	-	1	0	LRP2	169752930	1.000000	0.71417	0.425000	0.26659	0.890000	0.51754	7.818000	0.86416	2.677000	0.91161	0.650000	0.86243	GGG		0.512	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
TTN	7273	broad.mit.edu	37	2	179437646	179437646	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr2:179437646C>T	ENST00000591111.1	-	276	68514	c.68290G>A	c.(68290-68292)Gaa>Aaa	p.E22764K	TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E21837K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E15465K|TTN_ENST00000460472.2_Missense_Mutation_p.E15340K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E15532K|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E24405K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22764	Fibronectin type-III 65. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAAGTCCTTCGGAATTCATG	0.488																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(65509-65511)Gaa>Aaa		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							84.0	85.0	85.0					2																	179437646		1947	4142	6089	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179437646C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.68290G>A	2.37:g.179437646C>T	ENSP00000465570:p.Glu22764Lys					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E15532K|TTN_uc021vta.1_Missense_Mutation_p.E15465K|TTN_uc021vtb.1_Missense_Mutation_p.E15340K	p.E21837K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		274	65734	-			22764			Fibronectin type-III 58.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.65509G>A		.	.	.	.	.	.	.	.	.	.	C	16.45	3.127645	0.56721	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.91	5.91	0.95273	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.60715	0.2290	L	0.35593	1.075	0.80722	D	1	D;D;D;D	0.64830	0.994;0.994;0.994;0.989	P;P;P;P	0.56648	0.803;0.803;0.803;0.734	T	0.62177	-0.6909	9	0.87932	D	0	.	20.2963	0.98556	0.0:1.0:0.0:0.0	.	15340;15465;15532;22764	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	21837;15340;15532;15465;15338	ENSP00000343764:E21837K;ENSP00000434586:E15340K;ENSP00000340554:E15532K;ENSP00000352154:E15465K	ENSP00000340554:E15532K	E	-	1	0	TTN	179145892	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.770000	0.85390	2.813000	0.96785	0.655000	0.94253	GAA		0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
ITGA4	3676	broad.mit.edu	37	2	182360569	182360569	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr2:182360569C>T	ENST00000397033.2	+	14	1875	c.1445C>T	c.(1444-1446)aCg>aTg	p.T482M		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	482					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	GTAAATAGAACGAAATTTGAC	0.388																																						uc002unu.3																			0		p.R481K(1)|p.R481G(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(1444-1446)aCg>aTg		Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	Natalizumab(DB00108)						168.0	151.0	156.0					2																	182360569		1899	4125	6024	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182360569C>T		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1445C>T	2.37:g.182360569C>T	ENSP00000380227:p.Thr482Met					ITGA4_uc010frj.1_5'Flank	p.T482M	NM_000885	NP_000876	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		13	2208	+			482					D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.1445C>T	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322251	0.81580	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.48201	0.82;0.82	5.8	5.8	0.92144	Integrin alpha-2 (1);	0.107611	0.64402	D	0.000004	T	0.70185	0.3195	M	0.71036	2.16	0.53688	D	0.999971	D	0.89917	1.0	D	0.77004	0.989	T	0.70938	-0.4736	10	0.66056	D	0.02	.	20.0586	0.97663	0.0:1.0:0.0:0.0	.	482	P13612	ITA4_HUMAN	M	482	ENSP00000380227:T482M;ENSP00000233573:T482M	ENSP00000233573:T482M	T	+	2	0	ITGA4	182068814	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	5.677000	0.68142	2.741000	0.93983	0.650000	0.86243	ACG		0.388	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1		
BARD1	580	broad.mit.edu	37	2	215646041	215646041	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr2:215646041C>T	ENST00000260947.4	-	4	691	c.557G>A	c.(556-558)aGt>aAt	p.S186N	BARD1_ENST00000449967.2_Missense_Mutation_p.S42N|BARD1_ENST00000471787.1_5'UTR	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	186			S -> G (in dbSNP:rs16852741).		cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGCAGGAGGACTTGGGGAAAC	0.383									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													uc002veu.2																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(556-558)aGt>aAt		Homo sapiens BRCA1 associated RING domain 1 (BARD1), mRNA.							89.0	90.0	90.0					2																	215646041		2203	4300	6503	SO:0001583	missense	580	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:215646041C>T		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.557G>A	2.37:g.215646041C>T	ENSP00000260947:p.Ser186Asn					BARD1_uc021vwe.1_Missense_Mutation_p.S167N|BARD1_uc021vwf.1_Missense_Mutation_p.S89N|BARD1_uc021vwg.1_Intron|BARD1_uc021vwh.1_Intron|BARD1_uc021vwi.1_Intron|BARD1_uc021vwc.1_Intron|BARD1_uc021vwd.1_Intron|BARD1_uc010zjm.1_Missense_Mutation_p.S42N|BARD1_uc021vwj.1_Missense_Mutation_p.S186N	p.S186N	NM_000465	NP_000456	Q99728	BARD1_HUMAN		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	3	692	-		Renal(323;0.0243)	186		S -> G (in dbSNP:rs16852741).			F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	ENST00000260947.4	37	c.557G>A	CCDS2397.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.266296	0.40095	.	.	ENSG00000138376	ENST00000260947;ENST00000449967	T;T	0.74947	-0.89;-0.29	5.75	-3.68	0.04463	.	0.422784	0.27650	N	0.018421	T	0.72170	0.3427	M	0.66939	2.045	0.09310	N	0.999996	B;B	0.32573	0.368;0.376	B;B	0.33196	0.159;0.084	T	0.67852	-0.5563	10	0.66056	D	0.02	-15.7991	21.4666	0.99954	0.0:0.1312:0.8044:0.0644	.	42;186	E7EUI3;Q99728	.;BARD1_HUMAN	N	186;42	ENSP00000260947:S186N;ENSP00000406752:S42N	ENSP00000260947:S186N	S	-	2	0	BARD1	215354286	0.481000	0.25941	0.123000	0.21794	0.011000	0.07611	0.040000	0.13905	-0.368000	0.08040	-0.986000	0.02555	AGT		0.383	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465	
SPEG	10290	broad.mit.edu	37	2	220342016	220342016	+	Silent	SNP	C	C	T	rs202153500		TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr2:220342016C>T	ENST00000312358.7	+	20	4710	c.4578C>T	c.(4576-4578)acC>acT	p.T1526T	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1526	Ig-like 8.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGCTGCTGACCGAGAGCAGCC	0.642													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15426	0.0		0.0	False		,,,				2504	0.0					uc010fwg.3																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(4576-4578)acC>acT		Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.							45.0	50.0	48.0					2																	220342016		2151	4238	6389	SO:0001819	synonymous_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220342016C>T	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.4578C>T	2.37:g.220342016C>T							p.T1526T	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	19	4578	+		Renal(207;0.0183)	1526			Ig-like 8.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	c.4578C>T	CCDS42824.1																																																																																				0.642	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876	
TPTE	7179	broad.mit.edu	37	21	10951337	10951337	+	Silent	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr21:10951337C>T	ENST00000361285.4	-	10	704	c.375G>A	c.(373-375)gaG>gaA	p.E125E	TPTE_ENST00000342420.5_Silent_p.E87E|TPTE_ENST00000298232.7_Silent_p.E107E|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	125					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TAGAACGATACTCCAAAGGAA	0.328																																						uc002yip.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(373-375)gaG>gaA		Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.							101.0	108.0	106.0					21																	10951337		2203	4297	6500	SO:0001819	synonymous_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10951337C>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.375G>A	21.37:g.10951337C>T						TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.E107E|TPTE_uc002yir.1_Silent_p.E87E|TPTE_uc010gkv.1_5'UTR	p.E125E	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	9	743	-			125					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Silent	SNP	ENST00000361285.4	37	c.375G>A	CCDS13560.2																																																																																				0.328	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		
KRTAP6-1	337966	broad.mit.edu	37	21	31986020	31986020	+	Silent	SNP	G	G	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr21:31986020G>T	ENST00000329122.2	-	1	229	c.204C>A	c.(202-204)ggC>ggA	p.G68G	KRTAP20-1_ENST00000334664.2_5'Flank	NM_181602.1	NP_853633.1	Q3LI64	KRA61_HUMAN	keratin associated protein 6-1	68						cytosol (GO:0005829)|intermediate filament (GO:0005882)				breast(2)|endometrium(1)|lung(7)	10						AATAATAGTAGCCAGAGCCAG	0.537																																						uc002yop.3																			0				breast(2)|endometrium(1)|lung(7)	10						c.(202-204)ggC>ggA		Homo sapiens keratin associated protein 6-1 (KRTAP6-1), mRNA.							77.0	82.0	80.0					21																	31986020		2203	4300	6503	SO:0001819	synonymous_variant	337966					cytosol|intermediate filament		g.chr21:31986020G>T	AP001708	CCDS13602.1	21q22.1	2006-03-13			ENSG00000184724	ENSG00000184724		"""Keratin associated proteins"""	18931	protein-coding gene	gene with protein product						12359730	Standard	NM_181602		Approved	KAP6.1, C21orf103	uc002yop.3	Q3LI64	OTTHUMG00000057788	ENST00000329122.2:c.204C>A	21.37:g.31986020G>T						KRTAP20-1_uc011ade.2_5'Flank	p.G68G	NM_181602	NP_853633	Q3LI64	KRA61_HUMAN			0	204	-			68						Silent	SNP	ENST00000329122.2	37	c.204C>A	CCDS13602.1																																																																																				0.537	KRTAP6-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128240.2	NM_181602	
ITSN1	6453	broad.mit.edu	37	21	35254584	35254584	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr21:35254584C>T	ENST00000381318.3	+	35	4667	c.4379C>T	c.(4378-4380)cCg>cTg	p.P1460L	ITSN1_ENST00000399367.3_Missense_Mutation_p.P1455L|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.P1399L|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000381285.4_Missense_Mutation_p.P1460L	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1460					apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TGCTTGGGGCCGCGCAAATTT	0.473																																						uc002yta.1																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(4378-4380)cCg>cTg		Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.							67.0	66.0	66.0					21																	35254584		2203	4300	6503	SO:0001583	missense	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35254584C>T	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.4379C>T	21.37:g.35254584C>T	ENSP00000370719:p.Pro1460Leu					DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Missense_Mutation_p.P1455L|ITSN1_uc002ytj.2_Missense_Mutation_p.P1399L|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc010gmn.1_Intron|ITSN1_uc002ytk.1_Intron	p.P1460L	NM_003024	NP_003015	Q15811	ITSN1_HUMAN			34	4647	+			1460					A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	c.4379C>T	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870958	0.91587	.	.	ENSG00000205726	ENST00000381318;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000437442	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.8	5.8	0.92144	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.72882	0.3516	M	0.81942	2.565	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.75199	-0.3402	10	0.87932	D	0	.	20.0545	0.97645	0.0:1.0:0.0:0.0	.	1399;1455;1460	A8CTY3;A8CTX8;Q15811	.;.;ITSN1_HUMAN	L	1460;1460;1389;1455;1399	ENSP00000370719:P1460L;ENSP00000370685:P1460L;ENSP00000382301:P1455L;ENSP00000387377:P1399L	ENSP00000370685:P1460L	P	+	2	0	ITSN1	34176454	1.000000	0.71417	0.999000	0.59377	0.889000	0.51656	7.458000	0.80787	2.748000	0.94277	0.655000	0.94253	CCG		0.473	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024	
DIP2A	23181	broad.mit.edu	37	21	47957153	47957153	+	Silent	SNP	C	C	T	rs372959959		TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr21:47957153C>T	ENST00000417564.2	+	14	1680	c.1659C>T	c.(1657-1659)aaC>aaT	p.N553N	DIP2A_ENST00000427143.2_Silent_p.N489N|Metazoa_SRP_ENST00000607098.1_RNA|DIP2A_ENST00000466639.1_Silent_p.N510N|DIP2A_ENST00000457905.3_Silent_p.N553N|DIP2A_ENST00000318711.7_Silent_p.N554N|DIP2A_ENST00000435722.3_Silent_p.N553N|DIP2A_ENST00000400274.1_Silent_p.N549N			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	553					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CATTAACAAACGTGCTGGATT	0.443																																						uc002zjo.2																			0				cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1657-1659)aaC>aaT		Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.		T	,,,,,,	3,4197		0,3,2097	287.0	292.0	290.0		1467,1530,1647,1659,1659,1659,1659	-0.0	1.0	21		290	0,8464		0,0,4232	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DIP2A	NM_001146114.1,NM_001146115.1,NM_001146116.1,NM_015151.3,NM_206889.2,NM_206890.2,NM_206891.2	,,,,,,	0,3,6329	TT,TC,CC		0.0,0.0714,0.0237	,,,,,,	489/1111,510/799,549/1568,553/1572,553/890,553/842,553/813	47957153	3,12661	2100	4232	6332	SO:0001819	synonymous_variant	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47957153C>T	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.1659C>T	21.37:g.47957153C>T						DIP2A_uc011afy.1_Silent_p.N489N|DIP2A_uc011afz.1_Silent_p.N549N|DIP2A_uc002zjl.3_Silent_p.N553N|DIP2A_uc002zjm.3_Silent_p.N553N|DIP2A_uc010gql.3_Silent_p.N510N|DIP2A_uc002zjn.3_Silent_p.N553N|DIP2A_uc002zjp.1_Silent_p.N298N|DIP2A_uc002zjq.3_5'Flank	p.N553N	NM_015151	NP_055966	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	13	1842	+	Breast(49;0.0933)		553					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Silent	SNP	ENST00000417564.2	37	c.1659C>T	CCDS46655.1																																																																																				0.443	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151	
SUSD2	56241	broad.mit.edu	37	22	24582099	24582099	+	Silent	SNP	G	G	A	rs539884627		TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr22:24582099G>A	ENST00000358321.3	+	9	1716	c.1455G>A	c.(1453-1455)gcG>gcA	p.A485A		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	485	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GGGTGCAGGCGCGGGCCCAGC	0.647													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18650	0.0		0.0	False		,,,				2504	0.0					uc002zzn.1																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						c.(1453-1455)gcG>gcA		Homo sapiens sushi domain containing 2 (SUSD2), mRNA.							19.0	21.0	20.0					22																	24582099		2199	4299	6498	SO:0001819	synonymous_variant	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24582099G>A	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.1455G>A	22.37:g.24582099G>A							p.A485A	NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN			8	1499	+			485			VWFD.		Q9H5Y6	Silent	SNP	ENST00000358321.3	37	c.1455G>A	CCDS13824.1																																																																																				0.647	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601	
FGD5	152273	broad.mit.edu	37	3	14861789	14861789	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr3:14861789C>T	ENST00000285046.5	+	1	1321	c.1211C>T	c.(1210-1212)gCg>gTg	p.A404V	FGD5_ENST00000543601.1_Missense_Mutation_p.A163V	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	404					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CAGGGTGGAGCGGCCGAGGGT	0.647																																						uc003bzc.3																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(1210-1212)gCg>gTg		Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.							24.0	29.0	27.0					3																	14861789		2019	4153	6172	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14861789C>T	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1211C>T	3.37:g.14861789C>T	ENSP00000285046:p.Ala404Val					FGD5_uc011avk.2_Missense_Mutation_p.A404V	p.A404V	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			0	1321	+			404					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.1211C>T	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	c	10.11	1.259111	0.23051	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.76578	-1.03;-0.92	4.54	0.433	0.16534	.	1.186460	0.06137	N	0.671774	T	0.59662	0.2210	L	0.27053	0.805	0.09310	N	1	B;B	0.15473	0.013;0.013	B;B	0.08055	0.003;0.002	T	0.35025	-0.9805	10	0.18710	T	0.47	-1.517	1.1529	0.01790	0.1458:0.3639:0.1421:0.3482	.	163;404	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	V	404;163	ENSP00000285046:A404V;ENSP00000445949:A163V	ENSP00000285046:A404V	A	+	2	0	FGD5	14836793	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.113000	0.15499	0.060000	0.16281	-1.282000	0.01380	GCG		0.647	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536	
COL7A1	1294	broad.mit.edu	37	3	48621742	48621742	+	Missense_Mutation	SNP	T	T	G			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr3:48621742T>G	ENST00000328333.8	-	36	4293	c.4186A>C	c.(4186-4188)Aca>Cca	p.T1396P	COL7A1_ENST00000454817.1_Missense_Mutation_p.T1396P	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1396	Interrupted collagenous region.|Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTCATGGCTGTTCCAGGAAGC	0.607																																						uc003ctz.2																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(4186-4188)Aca>Cca		Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.							16.0	18.0	17.0					3																	48621742		2201	4299	6500	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48621742T>G	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.4186A>C	3.37:g.48621742T>G	ENSP00000332371:p.Thr1396Pro						p.T1396P	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	35	4187	-			1396			Interrupted collagenous region.|Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.4186A>C	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	T	4.606	0.112618	0.08831	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.94457	-3.43;-3.43	5.2	-3.36	0.04913	.	1.012730	0.07925	N	0.976563	D	0.84683	0.5526	N	0.11201	0.11	0.09310	N	0.999999	B	0.31730	0.337	B	0.29267	0.1	T	0.75196	-0.3403	10	0.40728	T	0.16	.	6.8293	0.23900	0.1323:0.4656:0.0:0.4021	.	1396	Q02388	CO7A1_HUMAN	P	1396	ENSP00000332371:T1396P;ENSP00000412569:T1396P	ENSP00000332371:T1396P	T	-	1	0	COL7A1	48596746	0.000000	0.05858	0.191000	0.23289	0.258000	0.26162	-0.107000	0.10873	-0.422000	0.07405	-0.290000	0.09829	ACA		0.607	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094	
CD86	942	broad.mit.edu	37	3	121822548	121822548	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr3:121822548G>A	ENST00000330540.2	+	3	370	c.254G>A	c.(253-255)cGc>cAc	p.R85H	CD86_ENST00000264468.5_Intron|CD86_ENST00000469710.1_Missense_Mutation_p.R3H|CD86_ENST00000493101.1_Intron|CD86_ENST00000393627.2_Missense_Mutation_p.R79H	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	85	Ig-like V-type.				aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	TATATGGGCCGCACAAGTTTT	0.423																																					GBM(67;1379 1389 36064 39806)	uc003eet.3																			0				breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23						c.(253-255)cGc>cAc		Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	Abatacept(DB01281)						143.0	142.0	142.0					3																	121822548		2203	4300	6503	SO:0001583	missense	942				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	g.chr3:121822548G>A		CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1705	protein-coding gene	gene with protein product	"""B-lymphocyte antigen B7-2"""	601020	"""CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"""	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.254G>A	3.37:g.121822548G>A	ENSP00000332049:p.Arg85His					CD86_uc011bjo.2_Missense_Mutation_p.R3H|CD86_uc011bjp.2_Intron|CD86_uc003eeu.3_Missense_Mutation_p.R79H|CD86_uc021xcz.1_Missense_Mutation_p.R79H	p.R85H	NM_175862	NP_008820	P42081	CD86_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	2	382	+			85			Ig-like V-type.		A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Missense_Mutation	SNP	ENST00000330540.2	37	c.254G>A	CCDS3009.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619268	0.87460	.	.	ENSG00000114013	ENST00000469710;ENST00000330540;ENST00000482356;ENST00000393627	T;T;T;T	0.72505	1.2;-0.66;-0.66;-0.66	5.54	5.54	0.83059	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000016	D	0.87414	0.6171	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89572	0.3814	10	0.87932	D	0	-18.8448	14.8575	0.70351	0.0:0.0:1.0:0.0	.	85	P42081	CD86_HUMAN	H	3;85;79;79	ENSP00000418988:R3H;ENSP00000332049:R85H;ENSP00000419116:R79H;ENSP00000377248:R79H	ENSP00000332049:R85H	R	+	2	0	CD86	123305238	0.999000	0.42202	0.958000	0.39756	0.915000	0.54546	4.887000	0.63156	2.884000	0.98904	0.655000	0.94253	CGC		0.423	CD86-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355671.1	NM_006889	
SLBP	7884	broad.mit.edu	37	4	1701407	1701407	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr4:1701407C>T	ENST00000489418.1	-	5	729	c.363G>A	c.(361-363)atG>atA	p.M121I	SLBP_ENST00000488267.1_Missense_Mutation_p.M86I|SLBP_ENST00000429429.2_Missense_Mutation_p.M82I|SLBP_ENST00000318386.4_Missense_Mutation_p.M128I	NM_006527.2	NP_006518.1	Q14493	SLBP_HUMAN	stem-loop binding protein	121					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA transport (GO:0051028)|nuclear cell cycle DNA replication (GO:0033260)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone pre-mRNA 3'end processing complex (GO:0071204)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	histone pre-mRNA DCP binding (GO:0071208)|histone pre-mRNA stem-loop binding (GO:0071207)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(2)|lung(2)	5		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.0055)			GCACAGTAGACATAGACTCCT	0.393																																						uc003gdi.1																			0				endometrium(1)|large_intestine(2)|lung(2)	5						c.(361-363)atG>atA		Homo sapiens stem-loop binding protein (SLBP), mRNA.							104.0	97.0	99.0					4																	1701407		2203	4300	6503	SO:0001583	missense	7884				DNA replication involved in S phase|histone mRNA 3'-end processing|mRNA export from nucleus|regulation of S phase|termination of RNA polymerase II transcription	cytosol|histone pre-mRNA 3'end processing complex|nucleoplasm	histone pre-mRNA DCP binding|histone pre-mRNA stem-loop binding|protein binding	g.chr4:1701407C>T	Z71188	CCDS3350.1	4p16.3	2008-02-11	2008-02-11		ENSG00000163950	ENSG00000163950			10904	protein-coding gene	gene with protein product	"""histone binding protein"""	602422	"""stem-loop (histone) binding protein"""			9049306, 1338771	Standard	NM_006527		Approved	HBP	uc003gdi.1	Q14493	OTTHUMG00000089349	ENST00000489418.1:c.363G>A	4.37:g.1701407C>T	ENSP00000417686:p.Met121Ile					SLBP_uc003gdk.1_Missense_Mutation_p.M82I|SLBP_uc011bvf.1_Missense_Mutation_p.M86I|SLBP_uc003gdl.1_Missense_Mutation_p.M38I	p.M121I	NM_006527	NP_006518	Q14493	SLBP_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0055)		4	478	-		Breast(71;0.212)|all_epithelial(65;0.241)	121					B3KRJ5	Missense_Mutation	SNP	ENST00000489418.1	37	c.363G>A	CCDS3350.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	8.922|8.922|8.922	0.961340|0.961340|0.961340	0.18583|0.18583|0.18583	.|.|.	.|.|.	ENSG00000163950|ENSG00000163950|ENSG00000163950	ENST00000483348|ENST00000429429;ENST00000489418;ENST00000460392;ENST00000318386;ENST00000488267|ENST00000480936	.|.|.	.|.|.	.|.|.	4.56|4.56|4.56	-0.984|-0.984|-0.984	0.10259|0.10259|0.10259	.|.|.	.|2.209180|.	.|0.01948|.	.|N|.	.|0.042387|.	T|T|T	0.08403|0.08403|0.08403	0.0209|0.0209|0.0209	N|N|N	0.02539|0.02539|0.02539	-0.55|-0.55|-0.55	0.09310|0.09310|0.09310	N|N|N	1|1|1	.|B;B;B;B;B|.	.|0.10296|.	.|0.003;0.003;0.001;0.0;0.001|.	.|B;B;B;B;B|.	.|0.11329|.	.|0.004;0.002;0.002;0.001;0.006|.	T|T|T	0.29212|0.29212|0.29212	-1.0019|-1.0019|-1.0019	5|9|5	.|0.30854|.	.|T|.	.|0.27|.	-15.1565|-15.1565|-15.1565	0.5572|0.5572|0.5572	0.00673|0.00673|0.00673	0.1766:0.3257:0.1731:0.3247|0.1766:0.3257:0.1731:0.3247|0.1766:0.3257:0.1731:0.3247	.|.|.	.|86;128;82;101;121|.	.|E7EUV9;F8W8D3;B3KRJ5;C9IY53;Q14493|.	.|.;.;.;.;SLBP_HUMAN|.	Y|I|I	76|82;121;101;128;86|129	.|.|.	.|ENSP00000316490:M128I|.	C|M|V	-|-|-	2|3|1	0|0|0	SLBP|SLBP|SLBP	1671205|1671205|1671205	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.000000|0.000000|0.000000	0.03702|0.03702|0.03702	0.301000|0.301000|0.301000	0.27625|0.27625|0.27625	-0.453000|-0.453000|-0.453000	0.06778|0.06778|0.06778	-0.087000|-0.087000|-0.087000	0.12528|0.12528|0.12528	0.644000|0.644000|0.644000	0.83932|0.83932|0.83932	TGT|ATG|GTC		0.393	SLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203176.1	NM_006527	
ANK2	287	broad.mit.edu	37	4	114278539	114278539	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr4:114278539C>T	ENST00000357077.4	+	38	8818	c.8765C>T	c.(8764-8766)cCa>cTa	p.P2922L	ANK2_ENST00000264366.6_Missense_Mutation_p.P2889L|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2922					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCTATGATCCACAAATCACT	0.408																																						uc003ibe.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(8764-8766)cCa>cTa		Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.							198.0	202.0	200.0					4																	114278539		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114278539C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.8765C>T	4.37:g.114278539C>T	ENSP00000349588:p.Pro2922Leu					ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.P2937L	p.P2922L	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	37	8865	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2889					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.8765C>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	0.525	-0.860408	0.02610	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.69806	-0.4;-0.43	5.58	3.87	0.44632	.	0.353035	0.24204	N	0.040584	T	0.62575	0.2439	M	0.66939	2.045	0.27208	N	0.959995	B;B	0.16166	0.009;0.016	B;B	0.16722	0.007;0.016	T	0.52170	-0.8611	9	.	.	.	.	11.0933	0.48130	0.0:0.7605:0.1115:0.128	.	2889;2922	Q01484;Q01484-4	ANK2_HUMAN;.	L	2922;2889	ENSP00000349588:P2922L;ENSP00000264366:P2889L	.	P	+	2	0	ANK2	114497988	0.010000	0.17322	0.111000	0.21465	0.001000	0.01503	1.065000	0.30592	0.316000	0.23135	-0.795000	0.03280	CCA		0.408	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
ZFP42	132625	broad.mit.edu	37	4	188924445	188924445	+	Missense_Mutation	SNP	C	C	G			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr4:188924445C>G	ENST00000326866.4	+	4	892	c.484C>G	c.(484-486)Cta>Gta	p.L162V	ZFP42_ENST00000509524.1_Missense_Mutation_p.L162V	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	162					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TGGCATTGACCTATCAGATCC	0.453																																						uc003izh.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27						c.(484-486)Cta>Gta		Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.							103.0	117.0	112.0					4																	188924445		2203	4300	6503	SO:0001583	missense	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924445C>G	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.484C>G	4.37:g.188924445C>G	ENSP00000317686:p.Leu162Val					ZFP42_uc003izi.1_Missense_Mutation_p.L162V|ZFP42_uc021xvm.1_Missense_Mutation_p.L162V	p.L162V	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	3	892	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	162					D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	c.484C>G	CCDS3849.1	.	.	.	.	.	.	.	.	.	.	c	13.11	2.140784	0.37825	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.66099	-0.19;-0.19	4.31	-6.83	0.01693	.	0.196730	0.30028	U	0.010584	T	0.39784	0.1091	L	0.41824	1.3	0.22728	N	0.998806	P	0.37122	0.583	B	0.36922	0.236	T	0.32375	-0.9909	10	0.34782	T	0.22	.	3.8625	0.09002	0.0964:0.285:0.0982:0.5204	.	162	Q96MM3	ZFP42_HUMAN	V	162	ENSP00000317686:L162V;ENSP00000424662:L162V	ENSP00000317686:L162V	L	+	1	2	ZFP42	189161439	0.008000	0.16893	0.000000	0.03702	0.001000	0.01503	-0.453000	0.06778	-1.729000	0.01364	-3.021000	0.00074	CTA		0.453	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900	
PCDHB16	57717	broad.mit.edu	37	5	140563779	140563779	+	Missense_Mutation	SNP	G	G	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr5:140563779G>T	ENST00000361016.2	+	1	2800	c.1645G>T	c.(1645-1647)Gtg>Ttg	p.V549L		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	549	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGGTGCGCGTGCTGGTGCT	0.711																																						uc003liv.3																			0				breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69						c.(1645-1647)Gtg>Ttg		Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.							12.0	13.0	13.0					5																	140563779		1871	3589	5460	SO:0001583	missense	57717				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140563779G>T	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1645G>T	5.37:g.140563779G>T	ENSP00000354293:p.Val549Leu						p.V549L	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	2800	+			549			Cadherin 5.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.1645G>T	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	g	22.4	4.284523	0.80803	.	.	ENSG00000196963	ENST00000361016	T	0.61040	0.14	4.12	4.12	0.48240	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.31404	N	0.007710	T	0.58793	0.2147	M	0.74647	2.275	0.33977	D	0.647463	P	0.41080	0.737	P	0.45276	0.475	T	0.66352	-0.5945	10	0.19147	T	0.46	.	9.8845	0.41253	0.0969:0.0:0.9031:0.0	.	549	Q9NRJ7	PCDBG_HUMAN	L	549	ENSP00000354293:V549L	ENSP00000354293:V549L	V	+	1	0	PCDHB16	140543963	0.606000	0.26949	0.991000	0.47740	0.935000	0.57460	0.688000	0.25422	1.860000	0.53959	0.479000	0.44913	GTG		0.711	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957	
GABRG2	2566	broad.mit.edu	37	5	161580200	161580200	+	Silent	SNP	C	C	T	rs113085352		TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr5:161580200C>T	ENST00000361925.4	+	9	1450	c.1230C>T	c.(1228-1230)gaC>gaT	p.D410D	GABRG2_ENST00000414552.2_Silent_p.D458D|GABRG2_ENST00000356592.3_Silent_p.D418D|GABRG2_ENST00000393933.4_Silent_p.D315D			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	410					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.D418D(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGTGTCTGGACGGCAAGGACT	0.463													c|||	1	0.000199681	0.0	0.0	5008	,	,		21402	0.001		0.0	False		,,,				2504	0.0					uc010jjc.3																			1	Substitution - coding silent(1)	p.D418D(1)	large_intestine(1)	NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(1372-1374)gaC>gaT		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.							205.0	189.0	195.0					5																	161580200		2203	4300	6503	SO:0001819	synonymous_variant	2566				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161580200C>T		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.1230C>T	5.37:g.161580200C>T						GABRG2_uc003lyy.4_Silent_p.D418D|GABRG2_uc003lyz.4_Silent_p.D410D|GABRG2_uc011dej.2_Silent_p.D315D	p.D458D	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	10	1732	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	410					F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Silent	SNP	ENST00000361925.4	37	c.1374C>T	CCDS4358.1																																																																																				0.463	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1		
RFX6	222546	broad.mit.edu	37	6	117232121	117232121	+	Silent	SNP	G	G	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr6:117232121G>A	ENST00000332958.2	+	7	712	c.696G>A	c.(694-696)tcG>tcA	p.S232S	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	232					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GTAAATATTCGCTTAGCTCAA	0.343																																						uc003pxm.3																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						c.(694-696)tcG>tcA		Homo sapiens regulatory factor X, 6 (RFX6), mRNA.							101.0	104.0	103.0					6																	117232121		2203	4300	6503	SO:0001819	synonymous_variant	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117232121G>A	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.696G>A	6.37:g.117232121G>A							p.S232S	NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN			6	759	+			232					Q5T6B3	Silent	SNP	ENST00000332958.2	37	c.696G>A	CCDS5113.1																																																																																				0.343	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560	
CD36	948	broad.mit.edu	37	7	80300317	80300317	+	Silent	SNP	C	C	T	rs372529585		TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr7:80300317C>T	ENST00000435819.1	+	13	1527	c.843C>T	c.(841-843)tcC>tcT	p.S281S	CD36_ENST00000394788.3_Silent_p.S281S|CD36_ENST00000309881.7_Silent_p.S281S|CD36_ENST00000538969.1_Silent_p.S221S|CD36_ENST00000544133.1_Intron|CD36_ENST00000433696.2_Silent_p.S242S|CD36_ENST00000534394.1_Silent_p.S205S|CD36_ENST00000447544.2_Silent_p.S281S|CD36_ENST00000432207.1_Silent_p.S281S			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	281					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						TATTTGAATCCGACGTTAATC	0.388																																						uc003uhc.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						c.(841-843)tcC>tcT		Homo sapiens CD36 molecule (thrombospondin receptor) (CD36), transcript variant 5, mRNA.		C	,,,,	1,4405	2.1+/-5.4	0,1,2202	178.0	183.0	181.0		843,843,843,843,843	-5.9	0.0	7		181	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CD36	NM_000072.3,NM_001001547.2,NM_001001548.2,NM_001127443.1,NM_001127444.1	,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,	281/473,281/473,281/473,281/473,281/473	80300317	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	948				cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding	g.chr7:80300317C>T	Z32770	CCDS34673.1	7q11.2	2010-02-26	2006-03-28		ENSG00000135218	ENSG00000135218		"""CD molecules"""	1663	protein-coding gene	gene with protein product		173510	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)"""			7503937	Standard	NM_001001548		Approved	SCARB3, GPIV, FAT, GP4, GP3B	uc003uhg.4	P16671	OTTHUMG00000155383	ENST00000435819.1:c.843C>T	7.37:g.80300317C>T						CD36_uc011kgv.2_Silent_p.S205S|CD36_uc003uhd.4_Silent_p.S281S|CD36_uc003uhe.4_Silent_p.S281S|CD36_uc003uhf.4_Silent_p.S281S|CD36_uc003uhg.4_Silent_p.S281S|CD36_uc003uhh.4_Silent_p.S281S|CD36_uc022agu.1_Silent_p.S242S|CD36_uc022agv.1_Silent_p.S221S	p.S281S	NM_001127444	NP_001120916	P16671	CD36_HUMAN			12	1527	+			281					D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5	Silent	SNP	ENST00000435819.1	37	c.843C>T	CCDS34673.1																																																																																				0.388	CD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339767.6	NM_001001547	
SEMA3C	10512	broad.mit.edu	37	7	80434993	80434993	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr7:80434993G>A	ENST00000265361.3	-	7	1181	c.620C>T	c.(619-621)gCg>gTg	p.A207V	SEMA3C_ENST00000419255.2_Missense_Mutation_p.A207V|SEMA3C_ENST00000544525.1_Missense_Mutation_p.A225V|SEMA3C_ENST00000536800.1_Missense_Mutation_p.A59V	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	207	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AGTTCTGACCGCATTCCTCTT	0.323																																						uc011kgw.2																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(673-675)gCg>gTg		Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.							96.0	86.0	89.0					7																	80434993		2203	4297	6500	SO:0001583	missense	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80434993G>A	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.620C>T	7.37:g.80434993G>A	ENSP00000265361:p.Ala207Val					SEMA3C_uc003uhj.3_Missense_Mutation_p.A207V|SEMA3C_uc011kgx.1_Missense_Mutation_p.A59V	p.A225V	NM_006379	NP_006370	Q99985	SEM3C_HUMAN			6	753	-			207			Sema.		B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	c.674C>T	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.259682	0.59321	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525;ENST00000536800	T;T;T;T	0.10860	2.83;2.83;2.83;2.83	5.17	5.17	0.71159	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.159786	0.56097	D	0.000037	T	0.12178	0.0296	L	0.33137	0.985	0.80722	D	1	B;B;P	0.34815	0.065;0.415;0.47	B;B;B	0.39152	0.025;0.193;0.292	T	0.19353	-1.0308	10	0.17832	T	0.49	.	18.6689	0.91502	0.0:0.0:1.0:0.0	.	59;225;207	B4DRL8;F5H1Z7;Q99985	.;.;SEM3C_HUMAN	V	207;207;225;59	ENSP00000265361:A207V;ENSP00000411193:A207V;ENSP00000445649:A225V;ENSP00000438258:A59V	ENSP00000265361:A207V	A	-	2	0	SEMA3C	80272929	1.000000	0.71417	0.969000	0.41365	0.932000	0.56968	9.835000	0.99442	2.403000	0.81681	0.591000	0.81541	GCG		0.323	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379	
TES	26136	broad.mit.edu	37	7	115892026	115892026	+	Silent	SNP	C	C	T	rs201867376		TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr7:115892026C>T	ENST00000358204.4	+	5	1130	c.915C>T	c.(913-915)gaC>gaT	p.D305D	AC002066.1_ENST00000446355.2_RNA|TES_ENST00000393481.2_Silent_p.D296D|AC073130.3_ENST00000444244.1_RNA|TES_ENST00000537767.1_Silent_p.D63D	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	305	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			CTGGCTGTGACGAGGTATGTT	0.478																																						uc003vho.3																			0				endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(913-915)gaC>gaT		Homo sapiens testis derived transcript (3 LIM domains) (TES), transcript variant 1, mRNA.							64.0	57.0	60.0					7																	115892026		2203	4300	6503	SO:0001819	synonymous_variant	26136				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding	g.chr7:115892026C>T	AJ250865	CCDS5763.1, CCDS5764.1	7q31.2	2004-04-20			ENSG00000135269	ENSG00000135269			14620	protein-coding gene	gene with protein product		606085				10950921	Standard	NM_015641		Approved	DKFZP586B2022, TESS-2, TESTIN	uc003vho.3	Q9UGI8	OTTHUMG00000023092	ENST00000358204.4:c.915C>T	7.37:g.115892026C>T						TES_uc011kmy.2_Silent_p.D63D|TES_uc003vhp.3_Silent_p.D296D|TES_uc022aki.1_Non-coding_Transcript|BD495725_uc003vhq.1_5'Flank	p.D305D	NM_015641	NP_690042	Q9UGI8	TES_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		4	1130	+	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	305			LIM zinc-binding 2.		A4D0U6|Q9GZQ1|Q9HAJ9	Silent	SNP	ENST00000358204.4	37	c.915C>T	CCDS5763.1	.	.	.	.	.	.	.	.	.	.	C	8.880	0.951518	0.18431	.	.	ENSG00000135269	ENST00000393484	.	.	.	5.61	1.6	0.23607	.	.	.	.	.	T	0.58032	0.2094	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50233	-0.8852	4	.	.	.	-34.3172	9.4875	0.38940	0.0:0.2745:0.0:0.7255	.	.	.	.	M	92	.	.	T	+	2	0	TES	115679262	0.988000	0.35896	1.000000	0.80357	0.941000	0.58515	0.172000	0.16704	0.125000	0.18397	-0.290000	0.09829	ACG		0.478	TES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059413.2	NM_015641	
WEE2	494551	broad.mit.edu	37	7	141408767	141408767	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr7:141408767C>T	ENST00000397541.2	+	1	615	c.209C>T	c.(208-210)tCg>tTg	p.S70L	WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000462383.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	70					female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					GACACATCTTCGGAAAAAGAC	0.517																																						uc003vwn.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						c.(208-210)tCg>tTg		Homo sapiens WEE1 homolog 2 (S. pombe) (WEE2), mRNA.							161.0	158.0	159.0					7																	141408767		1958	4152	6110	SO:0001583	missense	494551				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr7:141408767C>T	AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.209C>T	7.37:g.141408767C>T	ENSP00000380675:p.Ser70Leu					FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	p.S70L	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN			0	615	+	Melanoma(164;0.0171)		70						Missense_Mutation	SNP	ENST00000397541.2	37	c.209C>T	CCDS43660.1	.	.	.	.	.	.	.	.	.	.	c	3.961	-0.010277	0.07727	.	.	ENSG00000214102	ENST00000397541	T	0.20598	2.06	4.78	-7.53	0.01336	.	15.423900	0.00559	U	0.000265	T	0.05777	0.0151	N	0.01705	-0.755	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24870	-1.0148	10	0.10377	T	0.69	.	3.5193	0.07736	0.1769:0.1195:0.4599:0.2436	.	70	P0C1S8	WEE2_HUMAN	L	70	ENSP00000380675:S70L	ENSP00000380675:S70L	S	+	2	0	WEE2	141055236	0.000000	0.05858	0.000000	0.03702	0.160000	0.22226	-1.482000	0.02320	-1.543000	0.01723	-1.146000	0.01853	TCG		0.517	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558	
ARHGEF5	7984	broad.mit.edu	37	7	144060365	144060365	+	Missense_Mutation	SNP	T	T	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr7:144060365T>A	ENST00000056217.5	+	2	777	c.603T>A	c.(601-603)agT>agA	p.S201R	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	201					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GCTCTGAAAGTGGGACTATCA	0.532																																						uc003wel.3																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(601-603)agT>agA		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.							182.0	197.0	192.0					7																	144060365		2183	4274	6457	SO:0001583	missense	7984				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr7:144060365T>A	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.603T>A	7.37:g.144060365T>A	ENSP00000056217:p.Ser201Arg					ARHGEF5_uc003wek.3_Missense_Mutation_p.S201R	p.S201R	NM_005435	NP_005426	Q12774	ARHG5_HUMAN			1	721	+	Melanoma(164;0.14)		201					A6NNJ2|Q6ZML7	Missense_Mutation	SNP	ENST00000056217.5	37	c.603T>A	CCDS34771.1	.	.	.	.	.	.	.	.	.	.	T	9.661	1.144233	0.21205	.	.	ENSG00000050327	ENST00000056217	T	0.74737	-0.87	4.01	-0.354	0.12591	.	1.494070	0.04859	U	0.443728	T	0.62514	0.2434	L	0.46157	1.445	0.09310	N	1	B	0.26002	0.139	B	0.21917	0.037	T	0.40701	-0.9549	9	.	.	.	.	1.5227	0.02519	0.1656:0.1124:0.1706:0.5513	.	201	Q12774	ARHG5_HUMAN	R	201	ENSP00000056217:S201R	.	S	+	3	2	ARHGEF5	143691298	0.001000	0.12720	0.001000	0.08648	0.007000	0.05969	0.026000	0.13599	0.113000	0.18004	0.528000	0.53228	AGT		0.532	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435	
DOCK5	80005	broad.mit.edu	37	8	25190203	25190203	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr8:25190203G>A	ENST00000276440.7	+	20	2130	c.2086G>A	c.(2086-2088)Gca>Aca	p.A696T		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	696					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)		TGTGTTTGACGCACTGGTAAG	0.318																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.3																			0				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						c.(2086-2088)Gca>Aca		Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.							122.0	106.0	111.0					8																	25190203		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25190203G>A		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.2086G>A	8.37:g.25190203G>A	ENSP00000276440:p.Ala696Thr					DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.A410T|DOCK5_uc003xei.3_Missense_Mutation_p.A266T|DOCK5_uc003xej.3_Non-coding_Transcript	p.A696T	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)	19	2223	+		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)	696					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.2086G>A	CCDS6047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.7|25.7	4.666209|4.666209	0.88251|0.88251	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000276440|ENST00000444569	T|.	0.71579|.	-0.58|.	5.86|5.86	5.86|5.86	0.93980|0.93980	Armadillo-type fold (1);|.	0.054238|.	0.64402|.	D|.	0.000001|.	T|T	0.78349|0.78349	0.4269|0.4269	M|M	0.76002|0.76002	2.32|2.32	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.999;0.999|.	D;D;D|.	0.71184|.	0.972;0.963;0.963|.	T|T	0.75712|0.75712	-0.3222|-0.3222	10|5	0.66056|.	D|.	0.02|.	.|.	20.5632|20.5632	0.99335|0.99335	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	686;471;696|.	D3DSS6;Q68DL4;Q9H7D0|.	.;.;DOCK5_HUMAN|.	T|H	696|467	ENSP00000276440:A696T|.	ENSP00000276440:A696T|.	A|R	+|+	1|2	0|0	DOCK5|DOCK5	25246120|25246120	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.383000|0.383000	0.30230|0.30230	9.775000|9.775000	0.98995|0.98995	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GCA|CGC		0.318	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940	
DOCK5	80005	broad.mit.edu	37	8	25225732	25225732	+	Silent	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr8:25225732C>T	ENST00000276440.7	+	32	3293	c.3249C>T	c.(3247-3249)atC>atT	p.I1083I		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1083					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)		GAAAGGAAATCGGCTTTAGAA	0.413																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.3																			0				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						c.(3247-3249)atC>atT		Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.							97.0	84.0	88.0					8																	25225732		2203	4300	6503	SO:0001819	synonymous_variant	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25225732C>T		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.3249C>T	8.37:g.25225732C>T						DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Silent_p.I797I|DOCK5_uc003xei.3_Silent_p.I653I|DOCK5_uc003xej.3_Non-coding_Transcript	p.I1083I	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)	31	3386	+		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)	1083					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Silent	SNP	ENST00000276440.7	37	c.3249C>T	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.251147	0.22880	.	.	ENSG00000147459	ENST00000444569	.	.	.	5.75	0.769	0.18492	.	.	.	.	.	T	0.58836	0.2150	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53056	-0.8492	4	.	.	.	.	10.8677	0.46864	0.0:0.5468:0.0:0.4532	.	.	.	.	W	855	.	.	R	+	1	2	DOCK5	25281649	0.206000	0.23470	0.998000	0.56505	0.920000	0.55202	-0.427000	0.06999	0.075000	0.16796	-0.140000	0.14226	CGG		0.413	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940	
NOV	4856	broad.mit.edu	37	8	120431487	120431487	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr8:120431487C>T	ENST00000259526.3	+	4	906	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W	RP11-775B15.2_ENST00000519786.1_RNA	NM_002514.3	NP_002505.1	Q9UIW2	PLXA1_HUMAN	nephroblastoma overexpressed	1548	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)			GTTCTCCACCCGGGTCACCAA	0.532																																						uc003yoq.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21						c.(679-681)Cgg>Tgg		Homo sapiens nephroblastoma overexpressed gene (NOV), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						134.0	128.0	130.0					8																	120431487		2203	4300	6503	SO:0001583	missense	4856				regulation of cell growth		growth factor activity|insulin-like growth factor binding	g.chr8:120431487C>T	X96584	CCDS6328.1	8q24.12	2012-02-27	2012-02-27		ENSG00000136999	ENSG00000136999			7885	protein-coding gene	gene with protein product		164958	"""nephroblastoma overexpressed gene"""			1334251	Standard	NM_002514		Approved	IGFBP9, CCN3	uc003yoq.2	P48745	OTTHUMG00000164984	ENST00000259526.3:c.679C>T	8.37:g.120431487C>T	ENSP00000259526:p.Arg227Trp						p.R227W	NM_002514	NP_002505	P48745	NOV_HUMAN	STAD - Stomach adenocarcinoma(47;0.000507)		3	900	+	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		227			TSP type-1.			Missense_Mutation	SNP	ENST00000259526.3	37	c.679C>T	CCDS6328.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038740	0.75617	.	.	ENSG00000136999	ENST00000259526	T	0.80909	-1.43	5.96	3.14	0.36123	.	0.053204	0.64402	D	0.000001	D	0.92987	0.7768	H	0.97491	4.015	0.47862	D	0.999535	D	0.89917	1.0	D	0.78314	0.991	D	0.94398	0.7620	10	0.87932	D	0	-21.3462	14.9589	0.71141	0.4919:0.5081:0.0:0.0	.	227	P48745	NOV_HUMAN	W	227	ENSP00000259526:R227W	ENSP00000259526:R227W	R	+	1	2	NOV	120500668	0.892000	0.30473	0.999000	0.59377	0.903000	0.53119	1.178000	0.31981	0.375000	0.24679	0.655000	0.94253	CGG		0.532	NOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381301.1	NM_002514	
CPSF1	29894	broad.mit.edu	37	8	145620691	145620691	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr8:145620691G>A	ENST00000349769.3	-	27	3149	c.3055C>T	c.(3055-3057)Cgc>Tgc	p.R1019C	CPSF1_ENST00000531727.1_5'Flank|MIR939_ENST00000401314.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1019					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)	p.R1019C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GCCGTGCAGCGCAGCGGGATC	0.667																																					NSCLC(133;1088 1848 27708 34777 35269)	uc003zcj.3																			1	Substitution - Missense(1)	p.R1019C(2)	endometrium(1)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(3055-3057)Cgc>Tgc		Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA.							48.0	44.0	45.0					8																	145620691		2203	4299	6502	SO:0001583	missense	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145620691G>A	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.3055C>T	8.37:g.145620691G>A	ENSP00000339353:p.Arg1019Cys					MIR939_uc022bcn.1_5'Flank|CPSF1_uc011lld.1_Non-coding_Transcript	p.R1019C	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		26	3130	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1019					Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	c.3055C>T	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737659	0.69304	.	.	ENSG00000071894	ENST00000349769	T	0.76578	-1.03	5.0	5.0	0.66597	.	0.056727	0.64402	D	0.000002	D	0.88603	0.6481	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	D	0.90086	0.4174	10	0.59425	D	0.04	-14.6449	15.8343	0.78787	0.0:0.0:1.0:0.0	.	1019	Q10570	CPSF1_HUMAN	C	1019	ENSP00000339353:R1019C	ENSP00000339353:R1019C	R	-	1	0	CPSF1	145591499	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.409000	0.73289	2.340000	0.79590	0.536000	0.68110	CGC		0.667	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291	
UHRF2	115426	broad.mit.edu	37	9	6413501	6413501	+	Missense_Mutation	SNP	A	A	G			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr9:6413501A>G	ENST00000276893.5	+	1	179	c.11A>G	c.(10-12)cAg>cGg	p.Q4R	UHRF2_ENST00000381373.3_Missense_Mutation_p.Q4R|RP11-307L3.4_ENST00000411561.1_RNA	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	4	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of cell cycle arrest (GO:0071158)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		ATGTGGATACAGGTTCGCACC	0.662																																						uc003zjy.3																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17						c.(10-12)cAg>cGg		Homo sapiens ubiquitin-like with PHD and ring finger domains 2 (UHRF2), mRNA.							58.0	58.0	58.0					9																	6413501		2203	4300	6503	SO:0001583	missense	115426				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:6413501A>G	AF274049	CCDS6469.1	9p24.1	2013-01-28	2012-02-23		ENSG00000147854	ENSG00000147854		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	12557	protein-coding gene	gene with protein product	"""Np95-like ring finger protein"""	615211	"""ubiquitin-like with PHD and ring finger domains 2"""			12176013	Standard	NM_152896		Approved	RNF107, NIRF, URF2, MGC33463	uc003zjy.3	Q96PU4	OTTHUMG00000019521	ENST00000276893.5:c.11A>G	9.37:g.6413501A>G	ENSP00000276893:p.Gln4Arg					UHRF2_uc003zjz.3_Non-coding_Transcript	p.Q4R	NM_152896	NP_690856	Q96PU4	UHRF2_HUMAN		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)	0	351	+		Acute lymphoblastic leukemia(23;0.158)	4			Ubiquitin-like.		Q5VYR1|Q5VYR3|Q659C8|Q8TAG7	Missense_Mutation	SNP	ENST00000276893.5	37	c.11A>G	CCDS6469.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.610749	0.87258	.	.	ENSG00000147854	ENST00000276893;ENST00000381373	T;T	0.41400	1.0;1.0	4.87	4.87	0.63330	Ubiquitin supergroup (1);Ubiquitin (1);	0.000000	0.85682	D	0.000000	T	0.37348	0.1000	L	0.51422	1.61	0.80722	D	1	P	0.40602	0.723	B	0.36418	0.224	T	0.32241	-0.9914	10	0.46703	T	0.11	-6.9533	14.2948	0.66304	1.0:0.0:0.0:0.0	.	4	Q96PU4	UHRF2_HUMAN	R	4	ENSP00000276893:Q4R;ENSP00000370778:Q4R	ENSP00000276893:Q4R	Q	+	2	0	UHRF2	6403501	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.223000	0.89779	2.043000	0.60533	0.459000	0.35465	CAG		0.662	UHRF2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051665.3	NM_152306	
IPPK	64768	broad.mit.edu	37	9	95400529	95400529	+	Missense_Mutation	SNP	G	G	A	rs146634367	byFrequency	TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr9:95400529G>A	ENST00000287996.3	-	9	946	c.670C>T	c.(670-672)Cgg>Tgg	p.R224W	IPPK_ENST00000375522.1_5'Flank	NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	224					inositol phosphate metabolic process (GO:0043647)|inositol phosphorylation (GO:0052746)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|inositol pentakisphosphate 2-kinase activity (GO:0035299)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						ACGGGGCTCCGGGCATCTTTG	0.562													G|||	3	0.000599042	0.0008	0.0	5008	,	,		17155	0.0		0.0	False		,,,				2504	0.002					uc004asl.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						c.(670-672)Cgg>Tgg		Homo sapiens inositol 1,3,4,5,6-pentakisphosphate 2-kinase (IPPK), mRNA.		G	TRP/ARG	3,4403	6.2+/-15.9	0,3,2200	59.0	64.0	62.0		670	4.3	0.9	9	dbSNP_134	62	0,8600		0,0,4300	yes	missense	IPPK	NM_022755.5	101	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging	224/492	95400529	3,13003	2203	4300	6503	SO:0001583	missense	64768				inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity	g.chr9:95400529G>A	AK023225	CCDS6699.1	9q22.31	2010-12-02	2005-10-20	2005-10-20	ENSG00000127080	ENSG00000127080			14645	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 12"""	C9orf12		12084730	Standard	NM_022755		Approved	INSP5K2, FLJ13163, IP5K, IPK1	uc004asl.1	Q9H8X2	OTTHUMG00000020231	ENST00000287996.3:c.670C>T	9.37:g.95400529G>A	ENSP00000287996:p.Arg224Trp					IPPK_uc004ask.1_5'Flank	p.R224W	NM_022755	NP_073592	Q9H8X2	IPPK_HUMAN			8	947	-			224					Q5T9F7|Q9H7V8	Missense_Mutation	SNP	ENST00000287996.3	37	c.670C>T	CCDS6699.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	18.35	3.604350	0.66445	6.81E-4	0.0	ENSG00000127080	ENST00000287996	T	0.32272	1.46	5.24	4.35	0.52113	.	0.479765	0.25660	N	0.029153	T	0.23451	0.0567	N	0.08118	0	0.80722	D	1	D	0.71674	0.998	P	0.51229	0.663	T	0.09143	-1.0688	10	0.62326	D	0.03	-15.7908	10.7378	0.46135	0.0718:0.1313:0.7969:0.0	.	224	Q9H8X2	IPPK_HUMAN	W	224	ENSP00000287996:R224W	ENSP00000287996:R224W	R	-	1	2	IPPK	94440350	0.998000	0.40836	0.943000	0.38184	0.898000	0.52572	2.861000	0.48380	1.357000	0.45904	-0.254000	0.11334	CGG		0.562	IPPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053101.1	NM_022755	
CYBB	1536	broad.mit.edu	37	X	37668843	37668843	+	Silent	SNP	T	T	C			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chrX:37668843T>C	ENST00000378588.4	+	12	1552	c.1485T>C	c.(1483-1485)caT>caC	p.H495H	TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000536160.1_Silent_p.H228H|CYBB_ENST00000545017.1_Silent_p.H463H	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	495					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	CTGTGCACCATGATGAGGAGA	0.398																																						uc004ddr.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						c.(1483-1485)caT>caC		Homo sapiens cytochrome b-245, beta polypeptide (CYBB), mRNA.							97.0	73.0	81.0					X																	37668843		2202	4298	6500	SO:0001819	synonymous_variant	1536				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity	g.chrX:37668843T>C	X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"""Cytochrome b genes"""	2578	protein-coding gene	gene with protein product		300481	"""chronic granulomatous disease"""	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.1485T>C	X.37:g.37668843T>C						CYBB_uc011mkf.1_Silent_p.H463H|CYBB_uc011mkg.1_Silent_p.H228H	p.H495H	NM_000397	NP_000388	P04839	CY24B_HUMAN			11	1546	+			495					A8K138|Q2PP16	Silent	SNP	ENST00000378588.4	37	c.1485T>C	CCDS14242.1																																																																																				0.398	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080881.1		
SSX6	280657	broad.mit.edu	37	X	47970682	47970682	+	IGR	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chrX:47970682C>T								snoU13 (29443 upstream) : SSX6 (5783 downstream)																							GCGTAATAAACGGGCCACAGA	0.478																																						uc011mlv.2																			0											c.(223-225)Cgg>Tgg		Homo sapiens putative protein SSX6-like (LOC100509575), mRNA.							109.0	83.0	92.0					X																	47970682		2192	4286	6478	SO:0001628	intergenic_variant	280657				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding	g.chrX:47970682C>T																													X.37:g.47970682C>T						LOC100509575_uc022bvt.1_Non-coding_Transcript	p.R75W	NM_001205103	NP_001192032	B7Z813	B7Z813_HUMAN			3	295	+			75						Missense_Mutation	SNP		37	c.223C>T		.	.	.	.	.	.	.	.	.	.	.	7.201	0.593389	0.13875	.	.	ENSG00000171483	ENST00000376932	T	0.10573	2.86	2.33	-2.66	0.06077	Krueppel-associated box (2);Krueppel-associated box-related (1);	2.941520	0.01034	N	0.004194	T	0.13329	0.0323	.	.	.	0.09310	N	0.999999	D;B	0.67145	0.996;0.016	P;B	0.50708	0.648;0.006	T	0.15665	-1.0429	9	0.56958	D	0.05	.	0.8044	0.01081	0.3978:0.257:0.1957:0.1495	.	75;75	B7Z813;Q7RTT6	.;SSX6_HUMAN	W	75	ENSP00000366131:R75W	ENSP00000366131:R75W	R	+	1	2	SSX6	47855626	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.864000	0.00347	-0.877000	0.04012	0.411000	0.27672	CGG	0	0.478								
GDPD2	54857	broad.mit.edu	37	X	69652284	69652284	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chrX:69652284C>T	ENST00000374382.3	+	13	1686	c.1435C>T	c.(1435-1437)Cgt>Tgt	p.R479C	GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000453994.2_Missense_Mutation_p.R530C|GDPD2_ENST00000538649.1_Missense_Mutation_p.R400C|GDPD2_ENST00000536730.1_Missense_Mutation_p.R400C	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	479	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol inositolphosphodiesterase activity (GO:0047394)|metal ion binding (GO:0046872)	p.R479C(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					GCAGCAGATGCGTTACCCTAT	0.522																																						uc011mpk.2																			1	Substitution - Missense(1)	p.R479C(1)|p.L530L(1)	large_intestine(1)	NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22						c.(1588-1590)Cgt>Tgt		Homo sapiens glycerophosphodiester phosphodiesterase domain containing 2 (GDPD2), transcript variant 1, mRNA.							173.0	134.0	147.0					X																	69652284		2203	4300	6503	SO:0001583	missense	54857				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding	g.chrX:69652284C>T	AK000214	CCDS14402.1, CCDS55437.1, CCDS55438.1	Xq13.1	2011-01-25			ENSG00000130055	ENSG00000130055			25974	protein-coding gene	gene with protein product	"""osteoblast differentiation promoting factor"""					12975309	Standard	NM_017711		Approved	OBDPF, FLJ20207, GDE3	uc011mpk.2	Q9HCC8	OTTHUMG00000021776	ENST00000374382.3:c.1435C>T	X.37:g.69652284C>T	ENSP00000363503:p.Arg479Cys					GDPD2_uc010nky.2_3'UTR|GDPD2_uc004dyh.3_Missense_Mutation_p.R479C|GDPD2_uc011mpl.2_Missense_Mutation_p.R400C|GDPD2_uc011mpm.2_Missense_Mutation_p.R400C	p.R530C	NM_001171192	NP_001164663	Q9HCC8	GDPD2_HUMAN			13	1949	+	Renal(35;0.156)		479					B4DRH4|B4DVC9|Q9NXJ6	Missense_Mutation	SNP	ENST00000374382.3	37	c.1588C>T	CCDS14402.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.935077	0.34189	.	.	ENSG00000130055	ENST00000453994;ENST00000536730;ENST00000538649;ENST00000374382	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	4.77	2.89	0.33648	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	1.406040	0.04115	N	0.315241	T	0.39655	0.1086	L	0.36672	1.1	0.26718	N	0.970831	D;P	0.55172	0.97;0.947	B;B	0.40534	0.332;0.232	T	0.33599	-0.9862	9	.	.	.	4.4141	8.4157	0.32670	0.297:0.5602:0.1429:0.0	.	530;479	B4DVC9;Q9HCC8	.;GDPD2_HUMAN	C	530;400;400;479	ENSP00000414019:R530C;ENSP00000445982:R400C;ENSP00000444601:R400C;ENSP00000363503:R479C	.	R	+	1	0	GDPD2	69569009	0.000000	0.05858	0.784000	0.31847	0.978000	0.69477	-0.590000	0.05760	1.009000	0.39289	0.468000	0.43344	CGT		0.522	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057070.1	NM_017711	
NXF3	56000	broad.mit.edu	37	X	102337213	102337213	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chrX:102337213G>A	ENST00000395065.3	-	9	961	c.860C>T	c.(859-861)aCg>aTg	p.T287M	NXF3_ENST00000425644.1_De_novo_Start_OutOfFrame|NXF3_ENST00000425463.2_Missense_Mutation_p.T198M	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	287					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CGAGAAGGTCGTGCACACTGG	0.542																																						uc004eju.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(859-861)aCg>aTg		Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.							434.0	292.0	340.0					X																	102337213		2203	4300	6503	SO:0001583	missense	56000					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:102337213G>A	AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.860C>T	X.37:g.102337213G>A	ENSP00000378504:p.Thr287Met					NXF3_uc010noi.1_Missense_Mutation_p.T137M|NXF3_uc011mrw.1_Missense_Mutation_p.T287M|NXF3_uc011mrx.1_Missense_Mutation_p.T198M	p.T287M	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN			8	931	-			287					B4DYS7|Q5H9I1|Q9H1A9	Missense_Mutation	SNP	ENST00000395065.3	37	c.860C>T	CCDS14503.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.936077	0.34189	.	.	ENSG00000147206	ENST00000395065;ENST00000425463	T;T	0.47177	0.87;0.85	3.4	1.51	0.23008	.	0.227376	0.42964	D	0.000625	T	0.54679	0.1873	L	0.52573	1.65	0.09310	N	1	D;D;D	0.89917	1.0;1.0;0.996	D;D;P	0.79784	0.993;0.977;0.786	T	0.39781	-0.9597	10	0.54805	T	0.06	-7.6577	5.3239	0.15895	0.0:0.2227:0.5446:0.2327	.	287;183;287	B4DYI1;E9PEY7;Q9H4D5	.;.;NXF3_HUMAN	M	287;198	ENSP00000378504:T287M;ENSP00000404347:T198M	ENSP00000378504:T287M	T	-	2	0	NXF3	102223869	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	0.557000	0.23454	0.260000	0.21731	0.600000	0.82982	ACG		0.542	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057684.1	NM_022052	
IRS4	8471	broad.mit.edu	37	X	107978476	107978476	+	Missense_Mutation	SNP	C	C	G			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chrX:107978476C>G	ENST00000372129.2	-	1	1175	c.1099G>C	c.(1099-1101)Gag>Cag	p.E367Q	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	367					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CCTCCCGGCTCGAGCGGCACC	0.632																																						uc004eoc.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(1099-1101)Gag>Cag		Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.							81.0	86.0	84.0					X																	107978476		2203	4299	6502	SO:0001583	missense	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107978476C>G	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1099G>C	X.37:g.107978476C>G	ENSP00000361202:p.Glu367Gln						p.E367Q	NM_003604	NP_003595	O14654	IRS4_HUMAN			0	1132	-			367						Missense_Mutation	SNP	ENST00000372129.2	37	c.1099G>C	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	C	8.784	0.929048	0.18131	.	.	ENSG00000133124	ENST00000372129	T	0.35048	1.33	4.73	2.73	0.32206	.	0.345297	0.32134	N	0.006521	T	0.21307	0.0513	L	0.32530	0.975	0.28245	N	0.925524	B	0.15930	0.015	B	0.12156	0.007	T	0.18967	-1.0320	10	0.66056	D	0.02	-5.1202	0.3362	0.00326	0.2346:0.3022:0.232:0.2312	.	367	O14654	IRS4_HUMAN	Q	367	ENSP00000361202:E367Q	ENSP00000361202:E367Q	E	-	1	0	IRS4	107865132	0.995000	0.38212	0.001000	0.08648	0.538000	0.34931	2.187000	0.42602	0.959000	0.37980	0.600000	0.82982	GAG		0.632	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604	
