#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
TTC4	7268	broad.mit.edu	37	1	55207175	55207175	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr1:55207175C>G	ENST00000371281.3	+	10	1240	c.1153C>G	c.(1153-1155)Cag>Gag	p.Q385E	MROH7-TTC4_ENST00000414150.2_3'UTR|TTC4_ENST00000371284.5_3'UTR	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	385										breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						AAAGGTGTACCAGATACGATG	0.517																																						uc001cxv.3																			0				breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						c.(1186-1188)Cag>Gag		Homo sapiens tetratricopeptide repeat domain 4 (TTC4), mRNA.							87.0	90.0	89.0					1																	55207175		2203	4300	6503	SO:0001583	missense	7268						binding	g.chr1:55207175C>G		CCDS596.1	1p32	2013-01-11			ENSG00000243725	ENSG00000243725		"""Tetratricopeptide (TTC) repeat domain containing"""	12394	protein-coding gene	gene with protein product		606753				9933562	Standard	NM_004623		Approved	MGC5097, FLJ41930	uc001cxx.4	O95801	OTTHUMG00000009914	ENST00000371281.3:c.1153C>G	1.37:g.55207175C>G	ENSP00000360329:p.Gln385Glu					HEATR8_uc001cxq.3_Non-coding_Transcript|TTC4_uc001cxx.4_Missense_Mutation_p.Q385E	p.Q396E			O95801	TTC4_HUMAN			9	1318	+			385					Q53Y95|Q5TA96|Q9H3I2	Missense_Mutation	SNP	ENST00000371281.3	37	c.1186C>G	CCDS596.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.947407	0.34377	.	.	ENSG00000243725	ENST00000371281;ENST00000371284	T	0.13538	2.58	5.1	3.07	0.35406	.	.	.	.	.	T	0.11879	0.0289	L	0.44542	1.39	0.20926	N	0.99983	B;B	0.23185	0.026;0.081	B;B	0.16289	0.01;0.015	T	0.22277	-1.0221	9	0.62326	D	0.03	-0.7479	6.6933	0.23185	0.2241:0.6858:0.0:0.0901	.	385;396	O95801;Q5TA95	TTC4_HUMAN;.	E	385;396	ENSP00000360329:Q385E	ENSP00000360329:Q385E	Q	+	1	0	TTC4	54979763	1.000000	0.71417	0.997000	0.53966	0.696000	0.40369	1.155000	0.31700	0.697000	0.31718	0.655000	0.94253	CAG		0.517	TTC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027432.1	NM_004623	
RPE65	6121	broad.mit.edu	37	1	68905261	68905261	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr1:68905261C>A	ENST00000262340.5	-	7	761	c.708G>T	c.(706-708)aaG>aaT	p.K236N		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	236					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						CGTAAGATGGCTTGAATCGGT	0.403																																						uc001dei.1																			0				central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						c.(706-708)aaG>aaT		Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA.							172.0	164.0	167.0					1																	68905261		2203	4300	6503	SO:0001583	missense	6121				visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity	g.chr1:68905261C>A	U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"""retinol isomerase"", ""all-trans-retinyl-palmitate hydrolase"", ""retinoid isomerohydrolase"", ""BCO family, member 3"""	180069	"""retinal pigment epithelium-specific protein (65kD)"""	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.708G>T	1.37:g.68905261C>A	ENSP00000262340:p.Lys236Asn						p.K236N	NM_000329	NP_000320	Q16518	RPE65_HUMAN			6	762	-			236					A8K1L0|Q5T9U3	Missense_Mutation	SNP	ENST00000262340.5	37	c.708G>T	CCDS643.1	.	.	.	.	.	.	.	.	.	.	c	18.94	3.730478	0.69074	.	.	ENSG00000116745	ENST00000262340	D	0.94966	-3.57	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.96059	0.8716	L	0.58428	1.81	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	D	0.93780	0.7083	10	0.27082	T	0.32	-16.1043	20.0816	0.97778	0.0:1.0:0.0:0.0	.	236	Q16518	RPE65_HUMAN	N	236	ENSP00000262340:K236N	ENSP00000262340:K236N	K	-	3	2	RPE65	68677849	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.186000	0.32078	2.748000	0.94277	0.645000	0.84053	AAG		0.403	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025509.1	NM_000329	
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	755						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423																																						uc021oul.1																			5	Substitution - Missense(5)	p.E3455K(10)	skin(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10363-10365)Gaa>Aaa		Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.																																				SO:0001583	missense	100132406							g.chr1:145367767G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10363G>A	1.37:g.145367767G>A	ENSP00000345684:p.Glu3455Lys					NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	p.E3455K	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	82	10398	+	all_hematologic(923;0.032)		3455					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.10363G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.929795	0.00488	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00784	0.0026	L	0.51422	1.61	0.09310	N	1	.	.	.	.	.	.	T	0.46162	-0.9211	4	0.02654	T	1	.	.	.	.	.	.	.	.	K	575;3455	ENSP00000345684:E3455K	ENSP00000345684:E3455K	E	+	1	0	NBPF10	144079124	0.039000	0.19947	.	.	.	.	0.000000	0.12993	.	.	.	.	GAA		0.423	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703	
RPRD2	23248	broad.mit.edu	37	1	150437160	150437160	+	Silent	SNP	T	T	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr1:150437160T>A	ENST00000369068.4	+	10	1573	c.1569T>A	c.(1567-1569)tcT>tcA	p.S523S	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Silent_p.S497S|RPRD2_ENST00000539519.1_Silent_p.S497S	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	523	Ser-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GCATTCTGTCTGCACTTTCCA	0.502											OREG0013786	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc009wlr.3																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(1567-1569)tcT>tcA		Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.							83.0	91.0	88.0					1																	150437160		2016	4170	6186	SO:0001819	synonymous_variant	23248						protein binding	g.chr1:150437160T>A	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.1569T>A	1.37:g.150437160T>A			OREG0013786	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1732	RPRD2_uc010pcc.1_Silent_p.S497S|RPRD2_uc001eup.4_Silent_p.S497S	p.S523S	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN			9	1770	+			523			Ser-rich.		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Silent	SNP	ENST00000369068.4	37	c.1569T>A	CCDS44216.1																																																																																				0.502	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203	
SLC9C2	284525	broad.mit.edu	37	1	173526582	173526582	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr1:173526582C>G	ENST00000367714.3	-	10	1534	c.1112G>C	c.(1111-1113)tGg>tCg	p.W371S	SLC9C2_ENST00000466087.1_5'UTR|RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Missense_Mutation_p.W269S	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	371					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										TACAACTCCCCATCGCCAATT	0.368																																						uc001giz.2																			0											c.(1111-1113)tGg>tCg		Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.							136.0	146.0	143.0					1																	173526582		2203	4299	6502	SO:0001583	missense	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173526582C>G	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1112G>C	1.37:g.173526582C>G	ENSP00000356687:p.Trp371Ser					SLC9C2_uc009wwe.2_5'UTR|SLC9C2_uc010pmq.1_Non-coding_Transcript	p.W371S	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN			9	1535	-			371					Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	c.1112G>C	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.906620	0.33628	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.13901	2.55;2.55	5.57	3.66	0.41972	Cation/H+ exchanger (1);	0.131353	0.35555	N	0.003123	T	0.15435	0.0372	M	0.65498	2.005	0.44030	D	0.996757	D	0.89917	1.0	D	0.74023	0.982	T	0.14755	-1.0461	10	0.08381	T	0.77	-7.1631	11.2025	0.48749	0.3337:0.6663:0.0:0.0	.	371	Q5TAH2	S9A11_HUMAN	S	371;269	ENSP00000356687:W371S;ENSP00000445437:W269S	ENSP00000356687:W371S	W	-	2	0	SLC9A11	171793205	0.999000	0.42202	0.975000	0.42487	0.137000	0.21094	1.446000	0.35090	0.682000	0.31407	0.591000	0.81541	TGG		0.368	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527	
RYR2	6262	broad.mit.edu	37	1	237791219	237791219	+	Silent	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr1:237791219C>T	ENST00000366574.2	+	41	6596	c.6279C>T	c.(6277-6279)gaC>gaT	p.D2093D	RYR2_ENST00000542537.1_Silent_p.D2077D|RYR2_ENST00000360064.6_Silent_p.D2091D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2093	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)			GGCAGTATGACGGCATTGGGG	0.552																																						uc001hyl.1																			0				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.(6277-6279)gaC>gaT		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							76.0	75.0	75.0					1																	237791219		1981	4143	6124	SO:0001819	synonymous_variant	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.chr1:237791219C>T	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.6279C>T	1.37:g.237791219C>T							p.D2093D	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		40	6399	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2093			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.6279C>T	CCDS55691.1																																																																																				0.552	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
ZSWIM8	23053	broad.mit.edu	37	10	75556970	75556970	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr10:75556970G>A	ENST00000605216.1	+	17	3576	c.3359G>A	c.(3358-3360)cGt>cAt	p.R1120H	ZSWIM8_ENST00000604524.1_Missense_Mutation_p.R1120H|ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.R1125H|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.R1087H|RP11-574K11.31_ENST00000603027.1_3'UTR|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.R1125H	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1120							zinc ion binding (GO:0008270)										CTTGGCAGTCGTGGAGGCTAT	0.577																																						uc001jvj.3																			0				breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19						c.(3358-3360)cGt>cAt		Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.							43.0	43.0	43.0					10																	75556970		1875	4113	5988	SO:0001583	missense	23053						zinc ion binding	g.chr10:75556970G>A	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.3359G>A	10.37:g.75556970G>A	ENSP00000474748:p.Arg1120His					KIAA0913_uc001jve.3_Missense_Mutation_p.R1125H|KIAA0913_uc009xrl.3_Missense_Mutation_p.R1120H|KIAA0913_uc001jvf.3_Missense_Mutation_p.R1120H|KIAA0913_uc001jvh.3_Non-coding_Transcript|KIAA0913_uc001jvi.3_Missense_Mutation_p.R555H|KIAA0913_uc010qkr.2_Missense_Mutation_p.R543H|KIAA0913_uc009xrn.2_5'Flank	p.R1120H	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN			16	3614	+	Prostate(51;0.0112)		1120					B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37	c.3359G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.396670|4.396670	0.83011|0.83011	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000398706|ENST00000412198	T|.	0.47177|.	0.85|.	4.78|4.78	4.78|4.78	0.61160|0.61160	.|.	0.170469|.	0.38326|.	U|.	0.001725|.	T|T	0.69242|0.69242	0.3089|0.3089	L|L	0.51422|0.51422	1.61|1.61	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D|.	0.76494|.	0.999;0.999;0.999;0.999|.	D;D;D;D|.	0.78314|.	0.991;0.991;0.991;0.991|.	T|T	0.66913|0.66913	-0.5803|-0.5803	10|5	0.42905|.	T|.	0.14|.	-4.4047|-4.4047	17.9929|17.9929	0.89174|0.89174	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1120;1132;1120;1125|.	A7E2V4;A7E2V4-3;A7E2V4-5;A7E2V4-4|.	K0913_HUMAN;.;.;.|.	H|M	1125|395	ENSP00000381693:R1125H|.	ENSP00000381693:R1125H|.	R|V	+|+	2|1	0|0	KIAA0913|KIAA0913	75226976|75226976	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.321000|9.321000	0.96353|0.96353	2.482000|2.482000	0.83794|0.83794	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.577	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487	
PTEN	5728	broad.mit.edu	37	10	89720661	89720661	+	Missense_Mutation	SNP	T	T	C	rs142420551		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr10:89720661T>C	ENST00000371953.3	+	8	2169	c.812T>C	c.(811-813)tTt>tCt	p.F271S	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	271	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.?(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.F271S(2)|p.G165_*404del(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)		GACAAAATGTTTCACTTTTGG	0.274		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"""		52	Whole gene deletion(37)|Deletion - Frameshift(9)|Unknown(3)|Substitution - Missense(2)|Deletion - In frame(1)	p.0?(37)|p.R55fs*1(5)|p.F271S(4)|p.?(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.F271fs*5(1)|p.G165_*404del(1)|p.M270I(1)|p.F271L(1)|p.G165_K342del(1)	prostate(16)|central_nervous_system(12)|skin(7)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)|endometrium(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.(811-813)tTt>tCt		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							24.0	26.0	25.0					10																	89720661		2182	4259	6441	SO:0001583	missense	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.chr10:89720661T>C	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.812T>C	10.37:g.89720661T>C	ENSP00000361021:p.Phe271Ser	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.F271S	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	1844	+		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)	271			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.812T>C	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.451558	0.84209	.	.	ENSG00000171862	ENST00000371953	D	0.94000	-3.33	5.13	5.13	0.70059	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.96574	0.8882	M	0.84511	2.7	0.80722	D	1	D	0.71674	0.998	D	0.67900	0.954	D	0.96851	0.9625	9	.	.	.	-3.1038	14.9228	0.70854	0.0:0.0:0.0:1.0	.	271	P60484	PTEN_HUMAN	S	271	ENSP00000361021:F271S	.	F	+	2	0	PTEN	89710641	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.661000	0.83786	1.942000	0.56320	0.482000	0.46254	TTT		0.274	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
MUC5B	727897	broad.mit.edu	37	11	1273709	1273709	+	Silent	SNP	G	G	A	rs371127122		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr11:1273709G>A	ENST00000529681.1	+	32	15058	c.15000G>A	c.(14998-15000)tcG>tcA	p.S5000S	MUC5B_ENST00000447027.1_Silent_p.S5003S|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5000					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGCTGTCCTCGCCCTCCCCTG	0.682																																						uc001lta.3																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(14998-15000)tcG>tcA		Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.		G		1,4191		0,1,2095	31.0	39.0	36.0		15000	-9.1	0.0	11		36	1,8361		0,1,4180	no	coding-synonymous	MUC5B	NM_002458.2		0,2,6275	AA,AG,GG		0.012,0.0239,0.0159		5000/5763	1273709	2,12552	2096	4181	6277	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1273709G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.15000G>A	11.37:g.1273709G>A							p.S5000S	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	15059	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	5000					O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.15000G>A	CCDS44515.2																																																																																				0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
OR5P2	120065	broad.mit.edu	37	11	7818411	7818411	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr11:7818411G>A	ENST00000329434.2	-	1	109	c.79C>T	c.(79-81)Cga>Tga	p.R27*	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGATGACTCGAAGGATTGGA	0.428																																						uc001mfp.1																			0		p.L26F(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22						c.(79-81)Cga>Tga		Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.							63.0	74.0	70.0					11																	7818411		2101	4292	6393	SO:0001587	stop_gained	120065				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7818411G>A	AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"""GPCR / Class A : Olfactory receptors"""	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.79C>T	11.37:g.7818411G>A	ENSP00000331823:p.Arg27*						p.R27*	NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	0	79	-			27					Q3MIS8	Nonsense_Mutation	SNP	ENST00000329434.2	37	c.79C>T	CCDS7782.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.755375	0.31046	.	.	ENSG00000183303	ENST00000329434	.	.	.	5.5	0.0297	0.14164	.	1.006940	0.07986	N	0.986334	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	0.1929	5.9068	0.19006	0.1471:0.0:0.4658:0.3872	.	.	.	.	X	27	.	ENSP00000331823:R27X	R	-	1	2	OR5P2	7774987	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.292000	0.19011	0.082000	0.17018	0.555000	0.69702	CGA		0.428	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1	NM_153444	
OR5W2	390148	broad.mit.edu	37	11	55681277	55681277	+	Missense_Mutation	SNP	C	C	T	rs202102548		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr11:55681277C>T	ENST00000344514.1	-	1	781	c.782G>A	c.(781-783)cGg>cAg	p.R261Q		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R261Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGAACTTGGCCGGAAATACAT	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		15067	0.0		0.0	False		,,,				2504	0.001				Melanoma(48;171 1190 15239 43886 49348)	uc010rir.2																			1	Substitution - Missense(1)	p.R261W(2)|p.R261Q(2)	pancreas(1)	breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(781-783)cGg>cAg		Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.		C	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	80.0	92.0	88.0		782	5.0	0.0	11		88	1,8591	1.2+/-3.3	0,1,4295	yes	missense	OR5W2	NM_001001960.1	43	0,2,6495	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	261/311	55681277	2,12992	2201	4296	6497	SO:0001583	missense	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681277C>T	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.782G>A	11.37:g.55681277C>T	ENSP00000342448:p.Arg261Gln						p.R261Q	NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN			0	782	-			261						Missense_Mutation	SNP	ENST00000344514.1	37	c.782G>A	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.026923	0.35797	2.27E-4	1.16E-4	ENSG00000187612	ENST00000344514	T	0.37235	1.21	5.01	5.01	0.66863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36167	N	0.002753	T	0.31857	0.0810	L	0.56199	1.76	0.09310	N	1	P	0.41524	0.753	B	0.42188	0.379	T	0.16748	-1.0392	10	0.10636	T	0.68	.	9.4436	0.38684	0.0:0.9031:0.0:0.0969	.	261	Q8NH69	OR5W2_HUMAN	Q	261	ENSP00000342448:R261Q	ENSP00000342448:R261Q	R	-	2	0	OR5W2	55437853	0.000000	0.05858	0.047000	0.18901	0.876000	0.50452	-0.083000	0.11286	2.311000	0.77944	0.549000	0.68633	CGG		0.443	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960	
MAP3K11	4296	broad.mit.edu	37	11	65375157	65375157	+	Silent	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr11:65375157C>T	ENST00000530153.1	-	4	950	c.429G>A	c.(427-429)aaG>aaA	p.K143K	MAP3K11_ENST00000534432.1_5'Flank|MAP3K11_ENST00000309100.3_Silent_p.K400K|MAP3K11_ENST00000532507.1_5'Flank					mitogen-activated protein kinase kinase kinase 11											breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						GGATCTCGCGCTTCCAGCCTT	0.617																																						uc001oew.3																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						c.(1198-1200)aaG>aaA		Homo sapiens mitogen-activated protein kinase kinase kinase 11 (MAP3K11), mRNA.							60.0	64.0	63.0					11																	65375157		2201	4297	6498	SO:0001819	synonymous_variant	4296				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity	g.chr11:65375157C>T		CCDS8107.1	11q13.1-q13.3	2011-06-09			ENSG00000173327	ENSG00000173327	2.7.10.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6850	protein-coding gene	gene with protein product		600050		MLK3, PTK1		9267807, 8183572	Standard	NM_002419		Approved	SPRK, MEKK11	uc001oew.3	Q16584	OTTHUMG00000166529	ENST00000530153.1:c.429G>A	11.37:g.65375157C>T						MAP3K11_uc001oev.3_5'Flank|MAP3K11_uc010rol.2_Silent_p.K143K|MAP3K11_uc001oex.1_5'UTR	p.K400K	NM_002419	NP_002410	Q16584	M3K11_HUMAN			3	1693	-			400						Silent	SNP	ENST00000530153.1	37	c.1200G>A																																																																																					0.617	MAP3K11-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000390233.2		
HEPHL1	341208	broad.mit.edu	37	11	93808410	93808410	+	Silent	SNP	C	C	T	rs61746203		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr11:93808410C>T	ENST00000315765.9	+	9	1583	c.1575C>T	c.(1573-1575)agC>agT	p.S525S		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	525	Plastocyanin-like 3.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TGCCTGAGAGCGTAAGCCCAA	0.468																																						uc001pep.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(1573-1575)agC>agT		Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.		C		0,3998		0,0,1999	84.0	82.0	82.0		1575	-5.3	0.2	11	dbSNP_129	82	1,8339		0,1,4169	no	coding-synonymous	HEPHL1	NM_001098672.1		0,1,6168	TT,TC,CC		0.012,0.0,0.0081		525/1160	93808410	1,12337	1999	4170	6169	SO:0001819	synonymous_variant	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93808410C>T	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.1575C>T	11.37:g.93808410C>T						AF086184_uc001pen.1_Intron	p.S525S	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN			8	1732	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	525			Plastocyanin-like 3.		Q3C1W7	Silent	SNP	ENST00000315765.9	37	c.1575C>T	CCDS44710.1																																																																																				0.468	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947	
PDZD3	79849	broad.mit.edu	37	11	119059542	119059542	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr11:119059542G>T	ENST00000531114.1	+	7	2000	c.1451G>T	c.(1450-1452)tGt>tTt	p.C484F	PDZD3_ENST00000322712.4_Missense_Mutation_p.C404F|PDZD3_ENST00000392817.2_Missense_Mutation_p.C484F|PDZD3_ENST00000525131.1_Missense_Mutation_p.C405F|PDZD3_ENST00000355547.5_Missense_Mutation_p.C418F			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	484	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cGMP-mediated signaling (GO:0019934)|ion transport (GO:0006811)|negative regulation of cGMP biosynthetic process (GO:0030827)|negative regulation of guanylate cyclase activity (GO:0031283)|receptor guanylyl cyclase signaling pathway (GO:0007168)|response to toxic substance (GO:0009636)|water transport (GO:0006833)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|subapical complex (GO:0035003)	guanylate cyclase inhibitor activity (GO:0030251)|ion channel inhibitor activity (GO:0008200)|protein C-terminus binding (GO:0008022)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		CGACTCAGTTGTGTGGCCAGT	0.572																																						uc001pwb.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14						c.(1450-1452)tGt>tTt		Homo sapiens PDZ domain containing 3 (PDZD3), transcript variant 3, non-coding RNA.							86.0	86.0	86.0					11																	119059542		2200	4295	6495	SO:0001583	missense	79849				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding	g.chr11:119059542G>T	AK091966	CCDS8417.1, CCDS53719.1	11q23.3	2008-02-05	2006-01-24	2006-01-24	ENSG00000172367	ENSG00000172367			19891	protein-coding gene	gene with protein product		607146	"""PDZ domain containing 2"""	PDZK2		11950846	Standard	NM_024791		Approved	FLJ22756, IKEPP	uc001pvz.3	Q86UT5	OTTHUMG00000166224	ENST00000531114.1:c.1451G>T	11.37:g.119059542G>T	ENSP00000431164:p.Cys484Phe					PDZD3_uc001pvz.3_Missense_Mutation_p.C418F|PDZD3_uc010rzd.2_Missense_Mutation_p.C405F|PDZD3_uc001pvy.3_Missense_Mutation_p.C404F|PDZD3_uc001pwa.3_Missense_Mutation_p.C114F	p.C484F			Q86UT5	NHRF4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)	6	1975	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	484			PDZ 4.		Q8N6R4|Q8NAW7|Q8NEX7|Q9H5Z3	Missense_Mutation	SNP	ENST00000531114.1	37	c.1451G>T		.	.	.	.	.	.	.	.	.	.	G	5.066	0.197805	0.09652	.	.	ENSG00000172367	ENST00000525131;ENST00000531114;ENST00000355547;ENST00000322712;ENST00000454065;ENST00000392817	T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72	5.06	2.09	0.27110	PDZ/DHR/GLGF (4);	0.424874	0.24988	N	0.034018	T	0.09024	0.0223	N	0.04508	-0.205	0.40165	D	0.9771	B;B;B;B	0.19817	0.039;0.028;0.009;0.011	B;B;B;B	0.24269	0.052;0.027;0.033;0.051	T	0.18967	-1.0320	10	0.09843	T	0.71	0.4237	4.6461	0.12572	0.1861:0.0:0.6404:0.1735	.	405;484;418;404	E9PPZ1;Q86UT5;Q86UT5-2;B0YJ61	.;NHRF4_HUMAN;.;.	F	405;484;418;404;418;484	ENSP00000434559:C405F;ENSP00000431164:C484F;ENSP00000347742:C418F;ENSP00000327107:C404F;ENSP00000376564:C484F	ENSP00000327107:C404F	C	+	2	0	PDZD3	118564752	0.006000	0.16342	0.801000	0.32222	0.872000	0.50106	0.589000	0.23939	0.228000	0.21019	0.655000	0.94253	TGT		0.572	PDZD3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388471.1	NM_024791	
YBX3	8531	broad.mit.edu	37	12	10854621	10854621	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr12:10854621G>A	ENST00000228251.4	-	8	1191	c.991C>T	c.(991-993)Cgt>Tgt	p.R331C	YBX3_ENST00000279550.7_Missense_Mutation_p.R262C|YBX3_ENST00000546164.1_5'UTR	NM_003651.4	NP_003642.3	P16989	YBOX3_HUMAN	Y box binding protein 3	331					3'-UTR-mediated mRNA stabilization (GO:0070935)|cellular hyperosmotic response (GO:0071474)|cellular response to tumor necrosis factor (GO:0071356)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of necroptotic process (GO:0060546)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoplasmic translation (GO:2000767)|positive regulation of organ growth (GO:0046622)|response to cold (GO:0009409)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|tight junction (GO:0005923)	double-stranded DNA binding (GO:0003690)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|Rho GTPase binding (GO:0017048)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)										TTGTAGGGACGCCGGTATCCA	0.567																																						uc001qyt.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	19						c.(991-993)Cgt>Tgt		Homo sapiens cold shock domain protein A (CSDA), transcript variant 1, mRNA.							165.0	152.0	156.0					12																	10854621		2203	4300	6503	SO:0001583	missense	8531				negative regulation of transcription from RNA polymerase II promoter|response to cold	cytoplasm|nucleus	double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:10854621G>A	L29064	CCDS8630.1, CCDS44831.1	12p13.1	2013-03-13	2013-03-13	2013-03-13	ENSG00000060138	ENSG00000060138			2428	protein-coding gene	gene with protein product	"""cold-shock domain containing A1"""	603437	"""cold shock domain protein A"""	CSDA		2977358, 8710501	Standard	NM_003651		Approved	dbpA, ZONAB, CSDA1	uc001qyt.3	P16989	OTTHUMG00000168409	ENST00000228251.4:c.991C>T	12.37:g.10854621G>A	ENSP00000228251:p.Arg331Cys					CSDA_uc001qyu.3_Missense_Mutation_p.R262C	p.R331C	NM_003651	NP_003642	P16989	DBPA_HUMAN			7	1234	-	Glioma(1;0.155)		331					B2RBW6|Q14121|Q969N6|Q96B76	Missense_Mutation	SNP	ENST00000228251.4	37	c.991C>T	CCDS8630.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725478	0.68959	.	.	ENSG00000060138	ENST00000279550;ENST00000228251	T;T	0.38560	1.64;1.13	4.88	4.88	0.63580	.	0.074781	0.53938	D	0.000051	T	0.56920	0.2018	L	0.56340	1.77	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;P	0.80764	0.994;0.902	T	0.59637	-0.7417	10	0.87932	D	0	.	10.7191	0.46030	0.0:0.0:0.8093:0.1907	.	262;331	P16989-2;P16989	.;DBPA_HUMAN	C	262;331	ENSP00000279550:R262C;ENSP00000228251:R331C	ENSP00000228251:R331C	R	-	1	0	CSDA	10745888	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.339000	0.59322	2.243000	0.73865	0.655000	0.94253	CGT		0.567	YBX3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399628.1	NM_003651	
KRT86	3892	broad.mit.edu	37	12	52699175	52699175	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr12:52699175G>A	ENST00000423955.2	+	7	1065	c.887G>A	c.(886-888)tGg>tAg	p.W296*	KRT86_ENST00000293525.5_Nonsense_Mutation_p.W296*|KRT86_ENST00000544024.1_Nonsense_Mutation_p.W296*|RP11-845M18.6_ENST00000552441.1_RNA			O43790	KRT86_HUMAN	keratin 86	296	Coil 2.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCGAGTCCTGGTACCGCAGC	0.542																																						uc010snq.2																			0				breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						c.(886-888)tGg>tAg		Homo sapiens keratin 86 (KRT86), mRNA.							99.0	88.0	92.0					12																	52699175		2203	4300	6503	SO:0001587	stop_gained	3892				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52699175G>A	X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6463	protein-coding gene	gene with protein product	"""hard keratin type II 6"""	601928	"""keratin, hair, basic, 6 (monilethrix)"""	KRTHB6		9241275, 16831889	Standard	NM_002284		Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000423955.2:c.887G>A	12.37:g.52699175G>A	ENSP00000444533:p.Trp296*					KRT86_uc009zmg.3_Nonsense_Mutation_p.W296*|KRT81_uc001sac.3_Intron|KRT86_uc001sad.3_Nonsense_Mutation_p.W296*	p.W296*	NM_002284	NP_002275	O43790	KRT86_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	5	1020	+			296			Coil 2.|Rod.		P78387	Nonsense_Mutation	SNP	ENST00000423955.2	37	c.887G>A	CCDS41785.1	.	.	.	.	.	.	.	.	.	.	G	38	7.224508	0.98146	.	.	ENSG00000170442;ENSG00000170442;ENSG00000170442;ENSG00000258832	ENST00000544024;ENST00000423955;ENST00000293525;ENST00000553310	.	.	.	4.51	4.51	0.55191	.	0.000000	0.38959	U	0.001512	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4621	0.75366	0.0:0.0:1.0:0.0	.	.	.	.	X	296	.	ENSP00000293525:W296X	W	+	2	0	AC021066.1;KRT86	50985442	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.472000	0.60189	2.086000	0.62901	0.499000	0.49734	TGG		0.542	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404911.1	NM_002284	
PTPRB	5787	broad.mit.edu	37	12	70990028	70990028	+	Silent	SNP	A	A	G			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr12:70990028A>G	ENST00000261266.5	-	3	434	c.405T>C	c.(403-405)tcT>tcC	p.S135S	PTPRB_ENST00000334414.6_Silent_p.S353S|PTPRB_ENST00000550857.1_Silent_p.S135S|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Silent_p.S352S|PTPRB_ENST00000451516.2_Silent_p.S135S|PTPRB_ENST00000550358.1_Silent_p.S353S|PTPRB_ENST00000538708.1_Silent_p.S135S	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	135	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTTTTCCGGAAGAAGGAGTCC	0.408																																						uc001swb.4																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(403-405)tcT>tcC		Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.							75.0	72.0	73.0					12																	70990028		1861	4105	5966	SO:0001819	synonymous_variant	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70990028A>G	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.405T>C	12.37:g.70990028A>G						PTPRB_uc010sto.2_Silent_p.S135S|PTPRB_uc010stp.2_Silent_p.S135S|PTPRB_uc001swc.4_Silent_p.S353S|PTPRB_uc001swa.4_Silent_p.S353S|PTPRB_uc001swd.4_Silent_p.S352S|PTPRB_uc009zrr.2_Silent_p.S232S|PTPRB_uc001swe.3_Silent_p.S353S	p.S135S	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		2	435	-	Renal(347;0.236)		135			Fibronectin type-III 2.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000261266.5	37	c.405T>C	CCDS44944.1																																																																																				0.408	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1		
RIMBP2	23504	broad.mit.edu	37	12	130907060	130907060	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr12:130907060C>T	ENST00000261655.4	-	13	2571	c.2408G>A	c.(2407-2409)cGg>cAg	p.R803Q	RP11-117L5.4_ENST00000539532.1_lincRNA	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	803					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGGAAACCTCCGGCCCATGTG	0.567																																						uc001uil.2																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(2407-2409)cGg>cAg		Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.							42.0	36.0	38.0					12																	130907060		2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130907060C>T	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2408G>A	12.37:g.130907060C>T	ENSP00000261655:p.Arg803Gln						p.R803Q	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	12	2624	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	803					Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.2408G>A	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152575	0.57259	.	.	ENSG00000060709	ENST00000261655	T	0.20463	2.07	4.9	2.76	0.32466	.	0.882556	0.09575	N	0.783724	T	0.19805	0.0476	L	0.56769	1.78	0.80722	D	1	B	0.23735	0.09	B	0.10450	0.005	T	0.05484	-1.0882	10	0.11794	T	0.64	-9.2794	9.6853	0.40094	0.0:0.7218:0.2024:0.0757	.	803	O15034	RIMB2_HUMAN	Q	803	ENSP00000261655:R803Q	ENSP00000261655:R803Q	R	-	2	0	RIMBP2	129473013	1.000000	0.71417	0.049000	0.19019	0.873000	0.50193	2.753000	0.47524	0.287000	0.22375	0.561000	0.74099	CGG		0.567	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347	
SACS	26278	broad.mit.edu	37	13	23913301	23913301	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr13:23913301T>C	ENST00000382292.3	-	9	4987	c.4714A>G	c.(4714-4716)Att>Gtt	p.I1572V	SACS_ENST00000402364.1_Missense_Mutation_p.I822V|SACS_ENST00000382298.3_Missense_Mutation_p.I1572V			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1572					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CGACTCATAATGATGGGAATG	0.338																																						uc001uon.2																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(4714-4716)Att>Gtt		Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.							88.0	86.0	87.0					13																	23913301		2200	4297	6497	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23913301T>C	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.4714A>G	13.37:g.23913301T>C	ENSP00000371729:p.Ile1572Val					SACS_uc001uoo.2_Missense_Mutation_p.I1425V|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.I1572V	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	9	5303	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1572					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.4714A>G	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	T	16.42	3.116954	0.56505	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.86497	-2.13;-2.13;-2.13	6.16	4.97	0.65823	ATPase-like, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.81616	0.4860	L	0.43923	1.385	0.38393	D	0.945443	B	0.23806	0.091	B	0.20184	0.028	T	0.76313	-0.3005	10	0.16896	T	0.51	.	13.7864	0.63112	0.0:0.0:0.1278:0.8722	.	1572	Q9NZJ4	SACS_HUMAN	V	1572;822;1572	ENSP00000371729:I1572V;ENSP00000385844:I822V;ENSP00000371735:I1572V	ENSP00000371729:I1572V	I	-	1	0	SACS	22811301	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	4.855000	0.62925	1.132000	0.42129	0.528000	0.53228	ATT		0.338	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
RB1	5925	broad.mit.edu	37	13	48941694	48941694	+	Nonsense_Mutation	SNP	T	T	G			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr13:48941694T>G	ENST00000267163.4	+	10	1142	c.1004T>G	c.(1003-1005)tTa>tGa	p.L335*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	335					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GATGCAAGATTATTTTTGGAT	0.284		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.3		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		22	Whole gene deletion(15)|Unknown(7)	p.0?(15)|p.?(7)	bone(11)|breast(5)|adrenal_gland(1)|eye(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(1003-1005)tTa>tGa		Homo sapiens retinoblastoma 1 (RB1), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						72.0	86.0	81.0					13																	48941694		2193	4287	6480	SO:0001587	stop_gained	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48941694T>G	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1004T>G	13.37:g.48941694T>G	ENSP00000267163:p.Leu335*	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_uc010act.1_Nonsense_Mutation_p.L36*	p.L335*	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	9	1170	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	335					A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.1004T>G	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	T	38	6.769777	0.97825	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.9508	15.1364	0.72569	0.0:0.0:0.0:1.0	.	.	.	.	X	314;335	.	ENSP00000267163:L335X	L	+	2	0	RB1	47839695	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.813000	0.69201	2.039000	0.60335	0.482000	0.46254	TTA		0.284	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
FARP1	10160	broad.mit.edu	37	13	98865588	98865588	+	Missense_Mutation	SNP	C	C	T	rs113972742	byFrequency	TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr13:98865588C>T	ENST00000319562.6	+	2	357	c.92C>T	c.(91-93)cCg>cTg	p.P31L	FARP1_ENST00000376586.2_Missense_Mutation_p.P31L|FARP1_ENST00000595437.1_Missense_Mutation_p.P31L|FARP1_ENST00000376581.5_Missense_Mutation_p.P31L	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	31					dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GGACAGAAGCCGCCCCCAACA	0.537													C|||	3	0.000599042	0.0	0.0	5008	,	,		17555	0.0		0.0	False		,,,				2504	0.0031					uc001vnh.3																			0				breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49						c.(91-93)cCg>cTg		Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.							133.0	148.0	143.0					13																	98865588		2203	4300	6503	SO:0001583	missense	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:98865588C>T	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.92C>T	13.37:g.98865588C>T	ENSP00000322926:p.Pro31Leu					FARP1_uc001vni.3_Missense_Mutation_p.P31L|FARP1_uc001vnj.3_Missense_Mutation_p.P31L	p.P31L	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		1	331	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		31					Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	c.92C>T	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434021	0.43224	.	.	ENSG00000152767	ENST00000376581;ENST00000376586;ENST00000319562	T;T;T	0.77489	0.85;-1.1;-0.94	5.75	1.62	0.23740	.	0.210025	0.40302	N	0.001122	T	0.58438	0.2122	N	0.20401	0.57	0.53005	D	0.999968	B;P;B	0.43024	0.006;0.798;0.013	B;B;B	0.35413	0.002;0.202;0.012	T	0.54774	-0.8243	10	0.34782	T	0.22	.	11.6241	0.51134	0.0:0.6785:0.0:0.3215	.	31;31;31	Q9Y4F1;Q5JVI9;C9JME2	FARP1_HUMAN;.;.	L	31	ENSP00000365765:P31L;ENSP00000365771:P31L;ENSP00000322926:P31L	ENSP00000322926:P31L	P	+	2	0	FARP1	97663589	0.328000	0.24687	0.967000	0.41034	0.993000	0.82548	0.879000	0.28146	0.374000	0.24650	0.655000	0.94253	CCG		0.537	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766	
OR11H12	440153	broad.mit.edu	37	14	19378054	19378054	+	Missense_Mutation	SNP	A	A	C			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr14:19378054A>C	ENST00000550708.1	+	1	533	c.461A>C	c.(460-462)cAt>cCt	p.H154P		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGACTGGGCATCTCTGTGCC	0.478																																						uc010tkp.2																			0		p.G153W(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(460-462)cAt>cCt		Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.							135.0	145.0	141.0					14																	19378054		2201	4295	6496	SO:0001583	missense	440153				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:19378054A>C		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"""GPCR / Class A : Olfactory receptors"""	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.461A>C	14.37:g.19378054A>C	ENSP00000449002:p.His154Pro						p.H154P	NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	0	461	+	all_cancers(95;0.00108)		154						Missense_Mutation	SNP	ENST00000550708.1	37	c.461A>C	CCDS32017.1	.	.	.	.	.	.	.	.	.	.	a	1.637	-0.517562	0.04171	.	.	ENSG00000257115	ENST00000550708	T	0.37058	1.22	0.585	0.585	0.17428	GPCR, rhodopsin-like superfamily (1);	1.250020	0.05952	N	0.638954	T	0.23766	0.0575	N	0.20685	0.6	0.25105	N	0.99076	B	0.13594	0.008	B	0.16722	0.016	T	0.31779	-0.9931	9	0.49607	T	0.09	.	5.5303	0.16980	0.9999:0.0:1.0E-4:0.0	.	154	B2RN74	O11HC_HUMAN	P	154	ENSP00000449002:H154P	ENSP00000449002:H154P	H	+	2	0	CR383656.1	18448054	0.000000	0.05858	0.840000	0.33206	0.194000	0.23727	-0.719000	0.04974	0.518000	0.28383	0.055000	0.15244	CAT		0.478	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354	
DYNC1H1	1778	broad.mit.edu	37	14	102467294	102467294	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr14:102467294C>T	ENST00000360184.4	+	19	4242	c.4078C>T	c.(4078-4080)Cga>Tga	p.R1360*		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1360	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TCGACAGCTTCGACAAAATTT	0.443																																						uc001yks.2																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(4078-4080)Cga>Tga		Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.							115.0	121.0	119.0					14																	102467294		2203	4300	6503	SO:0001587	stop_gained	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102467294C>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.4078C>T	14.37:g.102467294C>T	ENSP00000348965:p.Arg1360*						p.R1360*	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			18	4242	+			1360			Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Nonsense_Mutation	SNP	ENST00000360184.4	37	c.4078C>T	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	46	12.119662	0.99638	.	.	ENSG00000197102	ENST00000360184	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.1542	0.98100	0.0:1.0:0.0:0.0	.	.	.	.	X	1360	.	ENSP00000348965:R1360X	R	+	1	2	DYNC1H1	101537047	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	6.071000	0.71229	2.767000	0.95098	0.563000	0.77884	CGA		0.443	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376	
EHD4	30844	broad.mit.edu	37	15	42193062	42193062	+	Silent	SNP	G	G	A	rs201800565		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr15:42193062G>A	ENST00000220325.4	-	6	1490	c.1407C>T	c.(1405-1407)aaC>aaT	p.N469N	RP11-23P13.6_ENST00000564432.2_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	469	EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		CCTTCTTGGCGTTGACACCTG	0.592																																						uc001zot.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20						c.(1405-1407)aaC>aaT		Homo sapiens EH-domain containing 4 (EHD4), mRNA.							91.0	74.0	80.0					15																	42193062		2203	4299	6502	SO:0001819	synonymous_variant	30844				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr15:42193062G>A	AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"""EF-hand domain containing"""	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.1407C>T	15.37:g.42193062G>A							p.N469N	NM_139265	NP_644670	Q9H223	EHD4_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)	5	1470	-		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	469			EH.		Q9HAR1|Q9NZN2	Silent	SNP	ENST00000220325.4	37	c.1407C>T	CCDS10081.1																																																																																				0.592	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252737.2	NM_139265	
KIF7	374654	broad.mit.edu	37	15	90188330	90188330	+	Missense_Mutation	SNP	C	C	T	rs149078926	byFrequency	TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr15:90188330C>T	ENST00000394412.3	-	10	2181	c.2105G>A	c.(2104-2106)cGg>cAg	p.R702Q		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	702	Sufficient for interaction with NPHP1.		R -> Q (in ACLS; hypomorphic mutation in vitro; may affect splicing). {ECO:0000269|PubMed:21552264}.		ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CTGGGCCAGCCGCCACTCTGA	0.652																																						uc002bof.2																			0				central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25						c.(2104-2106)cGg>cAg		Homo sapiens kinesin family member 7 (KIF7), mRNA.			GLN/ARG	1,4397		0,1,2198	37.0	45.0	42.0		2105	4.7	1.0	15	dbSNP_134	42	3,8593		0,3,4295	yes	missense	KIF7	NM_198525.2	43	0,4,6493	TT,TC,CC		0.0349,0.0227,0.0308	probably-damaging	702/1344	90188330	4,12990	2199	4298	6497	SO:0001583	missense	374654				microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding	g.chr15:90188330C>T	AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.2105G>A	15.37:g.90188330C>T	ENSP00000377934:p.Arg702Gln					KIF7_uc010upw.1_Missense_Mutation_p.R188Q	p.R702Q	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		9	2182	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		702					Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	ENST00000394412.3	37	c.2105G>A	CCDS32325.2	.	.	.	.	.	.	.	.	.	.	c	25.5	4.641479	0.87859	2.27E-4	3.49E-4	ENSG00000166813	ENST00000394412	T	0.42513	0.97	4.68	4.68	0.58851	.	0.165067	0.53938	D	0.000057	T	0.58581	0.2132	M	0.63843	1.955	0.38360	D	0.944578	D;D	0.89917	1.0;0.999	D;P	0.67382	0.951;0.805	T	0.57653	-0.7774	10	0.15066	T	0.55	.	17.6022	0.88028	0.0:1.0:0.0:0.0	.	188;702	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	Q	702	ENSP00000377934:R702Q	ENSP00000377934:R702Q	R	-	2	0	KIF7	87989334	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.474000	0.81024	2.147000	0.66899	0.454000	0.30748	CGG		0.652	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525	
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																						uc002cdi.3																			10	Substitution - Missense(10)	p.G374S(10)	kidney(7)|prostate(2)|endometrium(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						c.(523-525)Ggc>Agc		Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.																																						374666							g.chr15:102515299G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A						WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript	p.G175S							8	1943	+									Missense_Mutation	SNP	ENST00000557932.1	37	c.523G>A		.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163	
NXN	64359	broad.mit.edu	37	17	708351	708351	+	Silent	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr17:708351G>A	ENST00000336868.3	-	6	1048	c.957C>T	c.(955-957)aaC>aaT	p.N319N	NXN_ENST00000575801.1_Silent_p.N211N|NXN_ENST00000538650.1_Intron|NXN_ENST00000537628.2_Silent_p.N70N	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	319	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cardiovascular system development (GO:0072358)|cell differentiation (GO:0030154)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-disulfide reductase activity (GO:0047134)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		GCTGCGCGGCGTTGGAGTCGG	0.692																																						uc002fsa.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13						c.(955-957)aaC>aaT		Homo sapiens nucleoredoxin (NXN), transcript variant 1, mRNA.							19.0	20.0	20.0					17																	708351		2198	4298	6496	SO:0001819	synonymous_variant	64359				cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity	g.chr17:708351G>A		CCDS10998.1, CCDS56013.1	17p13	2007-08-10			ENSG00000167693	ENSG00000167693			18008	protein-coding gene	gene with protein product		612895					Standard	NM_022463		Approved	FLJ12614, NRX	uc002fsa.3	Q6DKJ4	OTTHUMG00000090307	ENST00000336868.3:c.957C>T	17.37:g.708351G>A						NXN_uc010vqd.2_Intron|NXN_uc010vqe.2_Silent_p.N211N	p.N319N	NM_022463	NP_071908	Q6DKJ4	NXN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)	5	1037	-			319			Thioredoxin.		B4DXQ0|D3DTH2|Q3SWW6|Q6P3U6|Q7L4C6|Q9H9Q1	Silent	SNP	ENST00000336868.3	37	c.957C>T	CCDS10998.1																																																																																				0.692	NXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206669.1		
TP53	7157	broad.mit.edu	37	17	7572986	7572986	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr17:7572986G>T	ENST00000269305.4	-	11	1312	c.1123C>A	c.(1123-1125)Cag>Aag	p.Q375K	TP53_ENST00000445888.2_Missense_Mutation_p.Q375K|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	375	Basic (repression of DNA-binding).|Interaction with CARM1.				apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.?(1)|p.Q375*(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GAGGTAGACTGACCCTTTTTG	0.527		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		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"""		10	Whole gene deletion(8)|Substitution - Nonsense(1)|Unknown(1)	p.0?(8)|p.Q375*(2)|p.?(1)	bone(4)|haematopoietic_and_lymphoid_tissue(2)|central_nervous_system(2)|urinary_tract(1)|stomach(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(1123-1125)Cag>Aag	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							193.0	173.0	180.0					17																	7572986		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.chr17:7572986G>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.1123C>A	17.37:g.7572986G>T	ENSP00000269305:p.Gln375Lys	HNSCC(1;<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_Intron|TP53_uc010cne.1_Non-coding_Transcript|TP53_uc010cng.1_3'UTR|TP53_uc010cnf.1_3'UTR|TP53_uc002gii.1_Missense_Mutation_p.Q243K|TP53_uc010cni.1_3'UTR|TP53_uc010cnh.1_3'UTR|TP53_uc002gij.2_Missense_Mutation_p.Q375K	p.Q375K	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1317	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	375			Basic (repression of DNA-binding).|Interaction with CARM1.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|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.1123C>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.782377	0.31502	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473;ENST00000419024	D;D	0.99129	-5.46;-5.46	5.31	3.18	0.36537	.	0.952987	0.08806	N	0.891079	D	0.96531	0.8868	L	0.46157	1.445	0.23972	N	0.996306	B	0.06786	0.001	B	0.06405	0.002	D	0.90204	0.4259	10	0.05721	T	0.95	-7.9939	7.7108	0.28677	0.0:0.1941:0.6294:0.1765	.	375	P04637	P53_HUMAN	K	375;375;364;26	ENSP00000269305:Q375K;ENSP00000391478:Q375K	ENSP00000269305:Q375K	Q	-	1	0	TP53	7513711	0.963000	0.33076	0.841000	0.33234	0.615000	0.37417	1.786000	0.38694	1.427000	0.47276	0.561000	0.74099	CAG		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
TP53	7157	broad.mit.edu	37	17	7577580	7577580	+	Missense_Mutation	SNP	T	T	C	rs587780073		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr17:7577580T>C	ENST00000269305.4	-	7	890	c.701A>G	c.(700-702)tAc>tGc	p.Y234C	TP53_ENST00000445888.2_Missense_Mutation_p.Y234C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Missense_Mutation_p.Y234C|TP53_ENST00000413465.2_Missense_Mutation_p.Y234C|TP53_ENST00000359597.4_Missense_Mutation_p.Y234C|TP53_ENST00000455263.2_Missense_Mutation_p.Y234C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	234	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y234C(94)|p.Y234S(9)|p.Y141C(8)|p.0?(8)|p.?(5)|p.Y234del(3)|p.Y141S(2)|p.I232_Y236delIHYNY(1)|p.Y234fs*2(1)|p.Y234F(1)|p.T230_Y234delTTIHY(1)|p.H233fs*6(1)|p.Y234R(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.I232fs*5(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CATGTAGTTGTAGTGGATGGT	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		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"""		141	Substitution - Missense(115)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(5)	p.Y234C(172)|p.Y234H(18)|p.Y234S(15)|p.Y234N(12)|p.Y141C(8)|p.0?(8)|p.Y234del(6)|p.Y234D(5)|p.?(5)|p.Y234*(4)|p.H233fs*6(4)|p.H233Y(4)|p.H233L(2)|p.H233D(2)|p.Y234fs*2(2)|p.Y234fs*5(2)|p.Y234fs*4(2)|p.H233Q(2)|p.Y234R(2)|p.H233_C242del10(2)|p.Y234F(2)|p.C229_H233delCTTIH(2)|p.I232_Y236delIHYNY(2)|p.T230_Y234delTTIHY(2)|p.Y141S(2)|p.V225fs*23(1)|p.Y234fs*6(1)|p.H233P(1)|p.H233R(1)|p.Y234Y(1)|p.H233fs*14(1)|p.D228fs*12(1)|p.H233fs*7(1)|p.I232_H233insG(1)|p.Y234_N235insX(1)|p.H233del(1)|p.I232fs*5(1)	lung(32)|haematopoietic_and_lymphoid_tissue(17)|breast(17)|ovary(15)|central_nervous_system(10)|urinary_tract(9)|upper_aerodigestive_tract(8)|oesophagus(7)|biliary_tract(6)|large_intestine(5)|kidney(4)|bone(4)|cervix(2)|stomach(2)|adrenal_gland(1)|skin(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(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	CM035576	TP53	M		c.(700-702)tAc>tGc	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							119.0	95.0	103.0					17																	7577580		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.chr17:7577580T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.701A>G	17.37:g.7577580T>C	ENSP00000269305:p.Tyr234Cys	HNSCC(1;<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_Missense_Mutation_p.Y234C|TP53_uc002gih.3_Missense_Mutation_p.Y234C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y102C|TP53_uc010cnf.1_Missense_Mutation_p.Y102C|TP53_uc002gii.1_Missense_Mutation_p.Y102C|TP53_uc010cni.1_Missense_Mutation_p.Y234C|TP53_uc010cnh.1_Missense_Mutation_p.Y234C|TP53_uc002gij.2_Missense_Mutation_p.Y234C|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.Y141C|TP53_uc002gio.2_Missense_Mutation_p.Y102C|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank	p.Y234C	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	895	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	234		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|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.701A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.146603	0.57044	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99826	-6.98;-6.98;-6.98;-6.98;-6.98;-6.98;-6.98;-6.98	4.62	3.49	0.39957	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.211900	0.41823	D	0.000804	D	0.99778	0.9908	M	0.88105	2.93	0.51012	D	0.999909	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.982;0.998;0.997;0.985;0.994;0.999	D	0.98045	1.0384	10	0.87932	D	0	-10.1131	9.0203	0.36195	0.1783:0.0:0.0:0.8216	.	234;234;141;234;234;234	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	C	234;234;234;234;234;234;223;141;102;141	ENSP00000410739:Y234C;ENSP00000352610:Y234C;ENSP00000269305:Y234C;ENSP00000398846:Y234C;ENSP00000391127:Y234C;ENSP00000391478:Y234C;ENSP00000425104:Y102C;ENSP00000423862:Y141C	ENSP00000269305:Y234C	Y	-	2	0	TP53	7518305	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.037000	0.41174	0.835000	0.34877	0.379000	0.24179	TAC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
TBC1D3F	84218	broad.mit.edu	37	17	36288289	36288289	+	Silent	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr17:36288289C>T	ENST00000327454.6	+	6	521	c.375C>T	c.(373-375)ccC>ccT	p.P125P	TBC1D3F_ENST00000539424.1_Silent_p.P45P|TBC1D3F_ENST00000378174.5_Silent_p.P125P|TBC1D3F_ENST00000505415.1_Silent_p.P125P	NM_032258.2	NP_115634.2	A6NER0	TBC3F_HUMAN	TBC1 domain family, member 3F	125	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)	p.P125P(1)		liver(1)|pancreas(1)	2						TGAAAAACCCCGGAAGATACC	0.572																																						uc010wdk.1																			1	Substitution - coding silent(1)	p.P125P(1)	lung(1)	breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(556-558)ccC>ccT		Homo sapiens TBC1 domain family, member 3F (TBC1D3F), mRNA.							215.0	143.0	165.0					17																	36288289		876	1984	2860	SO:0001819	synonymous_variant	729873					intracellular	Rab GTPase activator activity	g.chr17:36288289C>T			17q12	2014-09-16				ENSG00000275954			18257	protein-coding gene	gene with protein product		610809				16863688	Standard	NM_032258		Approved			A6NER0	OTTHUMG00000188428	ENST00000327454.6:c.375C>T	17.37:g.36288289C>T						TBC1D3_uc002hoo.2_Silent_p.P125P|TBC1D3_uc002hop.2_Non-coding_Transcript|TBC1D3_uc010wdj.1_Silent_p.P45P|TBC1D3_uc010cvf.1_Silent_p.P125P|TBC1D3_uc002hoq.2_Silent_p.P125P|DQ586040_uc002hpl.3_5'Flank|DQ587906_uc002hor.3_5'Flank|DQ585853_uc021tvy.1_5'Flank	p.P186P	NM_032258	NP_115634	Q8IZP1	TBC3A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	559	+	Breast(7;2.97e-12)	Breast(25;0.102)|Ovarian(249;0.17)	125			Rab-GAP TBC.			Silent	SNP	ENST00000327454.6	37	c.558C>T	CCDS45657.1																																																																																				0.572	TBC1D3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256100.3	NM_032258.2	
GRB7	2886	broad.mit.edu	37	17	37901165	37901165	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr17:37901165G>C	ENST00000309156.4	+	9	1196	c.939G>C	c.(937-939)aaG>aaC	p.K313N	GRB7_ENST00000445327.2_Missense_Mutation_p.K336N|GRB7_ENST00000309185.3_Missense_Mutation_p.K313N|GRB7_ENST00000394204.1_Missense_Mutation_p.K313N|GRB7_ENST00000394211.3_Missense_Mutation_p.K313N|GRB7_ENST00000394209.2_Missense_Mutation_p.K313N	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	313	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ATGGCCACAAGGGGCTTCGGA	0.582																																						uc002hsr.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(937-939)aaG>aaC		Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 1, mRNA.							48.0	51.0	50.0					17																	37901165		2203	4300	6503	SO:0001583	missense	2886				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity	g.chr17:37901165G>C	D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.939G>C	17.37:g.37901165G>C	ENSP00000310771:p.Lys313Asn					GRB7_uc002hss.3_Missense_Mutation_p.K313N|GRB7_uc021twu.1_Missense_Mutation_p.K336N|GRB7_uc010cwc.3_Missense_Mutation_p.K313N|GRB7_uc002hst.3_Missense_Mutation_p.K313N	p.K313N	NM_005310	NP_005301	Q14451	GRB7_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		8	1214	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		313			PH.		B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	ENST00000309156.4	37	c.939G>C	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192174	0.78902	.	.	ENSG00000141738	ENST00000309185;ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327;ENST00000394204	T;T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25;2.25	5.02	5.02	0.67125	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.148042	0.64402	D	0.000011	T	0.42899	0.1223	M	0.86028	2.79	0.58432	D	0.999995	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.987	T	0.41610	-0.9499	10	0.87932	D	0	-34.1	8.9655	0.35874	0.1641:0.0:0.8359:0.0	.	313;313	Q14451-2;Q14451	.;GRB7_HUMAN	N	313;313;313;313;336;313	ENSP00000311752:K313N;ENSP00000310771:K313N;ENSP00000377761:K313N;ENSP00000377759:K313N;ENSP00000403459:K336N;ENSP00000377754:K313N	ENSP00000310771:K313N	K	+	3	2	GRB7	35154691	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.142000	0.50601	2.590000	0.87494	0.561000	0.74099	AAG		0.582	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	NM_005310	
KRT25	147183	broad.mit.edu	37	17	38910206	38910206	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr17:38910206A>G	ENST00000312150.4	-	3	635	c.575T>C	c.(574-576)gTt>gCt	p.V192A		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TTCATCCAAAACTCTTCGTAA	0.403																																						uc002hve.3																			0				endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16						c.(574-576)gTt>gCt		Homo sapiens keratin 25 (KRT25), mRNA.							137.0	127.0	131.0					17																	38910206		2203	4300	6503	SO:0001583	missense	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38910206A>G	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30839	protein-coding gene	gene with protein product			"""keratin 25A"""	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.575T>C	17.37:g.38910206A>G	ENSP00000310573:p.Val192Ala						p.V192A	NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN			2	636	-		Breast(137;0.00526)	192			Coil 1B.|Rod.			Missense_Mutation	SNP	ENST00000312150.4	37	c.575T>C	CCDS11373.1	.	.	.	.	.	.	.	.	.	.	A	17.30	3.353723	0.61293	.	.	ENSG00000204897	ENST00000394042;ENST00000312150	D	0.88896	-2.44	5.92	3.68	0.42216	Filament (1);	0.212354	0.33075	N	0.005312	D	0.90421	0.7001	M	0.84846	2.72	0.41007	D	0.984972	B	0.29590	0.25	B	0.37346	0.247	D	0.88091	0.2813	10	0.87932	D	0	.	10.2938	0.43612	0.8657:0.0:0.1343:0.0	.	192	Q7Z3Z0	K1C25_HUMAN	A	192	ENSP00000310573:V192A	ENSP00000310573:V192A	V	-	2	0	KRT25	36163732	0.905000	0.30787	0.991000	0.47740	0.995000	0.86356	5.946000	0.70234	0.476000	0.27440	0.482000	0.46254	GTT		0.403	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534	
INTS2	57508	broad.mit.edu	37	17	59946709	59946709	+	Silent	SNP	G	G	A	rs573904210		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr17:59946709G>A	ENST00000444766.3	-	22	3162	c.3087C>T	c.(3085-3087)gtC>gtT	p.V1029V	INTS2_ENST00000251334.6_Silent_p.V1021V	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	1029					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)		p.V1029V(1)		NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						GAATACCTGCGACCGTCAGAG	0.373													G|||	1	0.000199681	0.0	0.0	5008	,	,		16517	0.0		0.0	False		,,,				2504	0.001					uc002izn.3																			1	Substitution - coding silent(1)	p.V1029V(2)	upper_aerodigestive_tract(1)	NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						c.(3085-3087)gtC>gtT		Homo sapiens integrator complex subunit 2 (INTS2), transcript variant 1, mRNA.							35.0	32.0	33.0					17																	59946709		1834	4084	5918	SO:0001819	synonymous_variant	57508				snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	g.chr17:59946709G>A	AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"""KIAA1287"""	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.3087C>T	17.37:g.59946709G>A						INTS2_uc002izm.3_Silent_p.V1021V	p.V1029V	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN			21	3163	-			1029					Q9ULD3	Silent	SNP	ENST00000444766.3	37	c.3087C>T	CCDS45750.1																																																																																				0.373	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	NM_020748	
MRPS7	51081	broad.mit.edu	37	17	73258939	73258939	+	Silent	SNP	C	C	T	rs376298524		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr17:73258939C>T	ENST00000245539.6	+	3	557	c.330C>T	c.(328-330)ctC>ctT	p.L110L	GGA3_ENST00000582486.1_5'Flank|GGA3_ENST00000351904.7_5'Flank|GGA3_ENST00000579743.1_5'Flank|MRPS7_ENST00000579002.1_Silent_p.L139L|GGA3_ENST00000538886.1_5'Flank|MRPS7_ENST00000579761.1_Silent_p.L110L|GGA3_ENST00000582717.1_5'Flank|GGA3_ENST00000537686.1_5'Flank|GGA3_ENST00000245541.6_5'Flank|GGA3_ENST00000578348.1_5'Flank	NM_015971.3	NP_057055.2	Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	110					translation (GO:0006412)	cytosolic small ribosomal subunit (GO:0022627)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			CCAGATCCCTCATGATTCAGG	0.448																																						uc002jnm.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6						c.(328-330)ctC>ctT		Homo sapiens mitochondrial ribosomal protein S7 (MRPS7), nuclear gene encoding mitochondrial protein, mRNA.		C		1,4405		0,1,2202	228.0	190.0	203.0		330	3.5	1.0	17		203	0,8600		0,0,4300	no	coding-synonymous	MRPS7	NM_015971.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		110/243	73258939	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51081				translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome	g.chr17:73258939C>T	AB051348	CCDS11718.1	17q25.1	2012-09-13				ENSG00000125445		"""Mitochondrial ribosomal proteins / small subunits"""	14499	protein-coding gene	gene with protein product		611974					Standard	NM_015971		Approved	MRP-S, RP-S7, RPMS7	uc002jnm.4	Q9Y2R9		ENST00000245539.6:c.330C>T	17.37:g.73258939C>T						GGA3_uc002jnk.2_5'Flank|GGA3_uc002jni.2_5'Flank|GGA3_uc002jnj.2_5'Flank|GGA3_uc010wry.2_5'Flank|GGA3_uc010wrw.2_5'Flank|GGA3_uc010wrx.2_5'Flank|GGA3_uc010wrz.2_5'Flank	p.L110L	NM_015971	NP_057055	Q9Y2R9	RT07_HUMAN	all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)		2	563	+	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		110					B2R9N5|Q53GD6	Silent	SNP	ENST00000245539.6	37	c.330C>T	CCDS11718.1																																																																																				0.448	MRPS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446666.1	NM_015971	
GAMT	2593	broad.mit.edu	37	19	1397419	1397419	+	Missense_Mutation	SNP	G	G	A	rs139890971		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr19:1397419G>A	ENST00000252288.2	-	6	716	c.650C>T	c.(649-651)cCg>cTg	p.P217L	AC005329.7_ENST00000585596.1_RNA|AC005329.7_ENST00000589734.1_RNA|AC005329.7_ENST00000501448.1_RNA	NM_000156.5	NP_000147.1	Q14353	GAMT_HUMAN	guanidinoacetate N-methyltransferase	217	RMT2. {ECO:0000255|PROSITE- ProRule:PRU00892}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine biosynthetic process (GO:0006601)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|organ morphogenesis (GO:0009887)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	guanidinoacetate N-methyltransferase activity (GO:0030731)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|upper_aerodigestive_tract(1)	6		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Lung NSC(49;0.000195)|Breast(49;0.000231)|all_lung(49;0.000247)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Creatine(DB00148)|Guanidine(DB00536)	GCAGTCGGCCGGTGGGACCAG	0.701																																					Colon(167;1531 1939 13427 28842 31956)	uc002lsj.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|upper_aerodigestive_tract(1)	6						c.(649-651)cCg>cTg		Homo sapiens guanidinoacetate N-methyltransferase (GAMT), transcript variant 1, mRNA.	Creatine(DB00148)						84.0	78.0	80.0					19																	1397419		2201	4300	6501	SO:0001583	missense	2593				creatine biosynthetic process|muscle contraction	cytosol	guanidinoacetate N-methyltransferase activity	g.chr19:1397419G>A	Z49878	CCDS12064.1, CCDS45897.1	19p13.3	2008-02-05							4136	protein-coding gene	gene with protein product		601240				9570966, 8547310	Standard	NM_000156		Approved	PIG2, TP53I2	uc002lsk.4	Q14353		ENST00000252288.2:c.650C>T	19.37:g.1397419G>A	ENSP00000252288:p.Pro217Leu					AK126693_uc002lsi.1_5'Flank	p.P217L	NM_000156	NP_000147	Q14353	GAMT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	727	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Lung NSC(49;0.000195)|Breast(49;0.000231)|all_lung(49;0.000247)|Hepatocellular(1079;0.137)	217					A8K0A0|Q53Y34|Q8WVJ1	Missense_Mutation	SNP	ENST00000252288.2	37	c.650C>T	CCDS12064.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.937226	0.92458	.	.	ENSG00000130005	ENST00000252288	D	0.87491	-2.26	5.08	5.08	0.68730	.	0.107964	0.64402	D	0.000004	D	0.92756	0.7697	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	P	0.60949	0.881	D	0.93340	0.6709	10	0.54805	T	0.06	.	15.9511	0.79840	0.0:0.0:1.0:0.0	.	217	Q14353	GAMT_HUMAN	L	217	ENSP00000252288:P217L	ENSP00000252288:P217L	P	-	2	0	GAMT	1348419	1.000000	0.71417	0.305000	0.25099	0.807000	0.45602	9.470000	0.97683	2.365000	0.80145	0.561000	0.74099	CCG		0.701	GAMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449739.1	NM_138924	
TJP3	27134	broad.mit.edu	37	19	3738562	3738562	+	Missense_Mutation	SNP	G	G	A	rs538012849		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr19:3738562G>A	ENST00000541714.2	+	12	1756	c.1294G>A	c.(1294-1296)Gtg>Atg	p.V432M	TJP3_ENST00000587686.1_Missense_Mutation_p.V451M|TJP3_ENST00000262968.9_Missense_Mutation_p.V465M|TJP3_ENST00000382008.3_Missense_Mutation_p.V446M|TJP3_ENST00000589378.1_Missense_Mutation_p.V441M|TJP3_ENST00000539908.2_Missense_Mutation_p.V396M	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	432	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGAATGACGTGCCATTCCA	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		20568	0.0		0.001	False		,,,				2504	0.0					uc010xhv.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(1393-1395)Gtg>Atg		Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.							125.0	108.0	114.0					19																	3738562		2203	4300	6503	SO:0001583	missense	27134					tight junction	protein binding	g.chr19:3738562G>A	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"""zona occludens 3"""	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.1294G>A	19.37:g.3738562G>A	ENSP00000439278:p.Val432Met					TJP3_uc010xhs.2_Missense_Mutation_p.V432M|TJP3_uc010xht.2_Missense_Mutation_p.V396M|TJP3_uc010xhu.2_Missense_Mutation_p.V441M|TJP3_uc010xhw.2_Missense_Mutation_p.V451M	p.V465M	NM_014428	NP_055243	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	10	1393	+			446					A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	ENST00000541714.2	37	c.1393G>A	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	G	10.86	1.470210	0.26423	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	4.94	-7.11	0.01542	PDZ/DHR/GLGF (4);	1.173790	0.06148	N	0.673556	T	0.14098	0.0341	N	0.20574	0.59	0.09310	N	1	B;B;B;B	0.34329	0.37;0.449;0.423;0.37	B;B;B;B	0.27887	0.042;0.084;0.071;0.042	T	0.18618	-1.0331	10	0.20046	T	0.44	.	9.2509	0.37554	0.6929:0.2114:0.0957:0.0	.	451;465;446;432	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	M	432;396;446;465	ENSP00000439278:V432M;ENSP00000439991:V396M;ENSP00000371438:V446M;ENSP00000262968:V465M	ENSP00000262968:V465M	V	+	1	0	TJP3	3689562	0.000000	0.05858	0.000000	0.03702	0.234000	0.25298	-0.391000	0.07323	-1.173000	0.02758	-0.339000	0.08088	GTG		0.577	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1		
PNPLA6	10908	broad.mit.edu	37	19	7607932	7607932	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr19:7607932G>A	ENST00000221249.6	+	16	1884	c.1453G>A	c.(1453-1455)Gcc>Acc	p.A485T	PNPLA6_ENST00000414982.3_Missense_Mutation_p.A533T|PNPLA6_ENST00000545201.2_Intron|PNPLA6_ENST00000600737.1_Missense_Mutation_p.A524T|PNPLA6_ENST00000450331.3_Missense_Mutation_p.A485T	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	524					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GCTGCACCACGCCAAAGCTGG	0.627																																						uc010xjq.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1597-1599)Gcc>Acc		Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.							77.0	64.0	68.0					19																	7607932		2203	4300	6503	SO:0001583	missense	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7607932G>A	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.1453G>A	19.37:g.7607932G>A	ENSP00000221249:p.Ala485Thr					PNPLA6_uc002mgq.2_Missense_Mutation_p.A485T|PNPLA6_uc010xjp.2_Intron|PNPLA6_uc002mgr.2_Missense_Mutation_p.A485T|PNPLA6_uc002mgs.3_Missense_Mutation_p.A524T	p.A533T	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN			14	1837	+			524					A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	c.1597G>A	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754865	0.49362	.	.	ENSG00000032444	ENST00000221249;ENST00000414982;ENST00000544207;ENST00000450331	D;D;D	0.92647	-3.08;-3.08;-3.08	5.32	4.27	0.50696	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.92244	0.7540	L	0.50333	1.59	0.58432	D	0.999994	D;D;D	0.61697	0.99;0.988;0.974	P;P;B	0.54210	0.745;0.629;0.325	D	0.92223	0.5786	10	0.66056	D	0.02	.	12.1351	0.53966	0.0848:0.0:0.9152:0.0	.	524;524;485	Q8IY17;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.	T	485;533;422;485	ENSP00000221249:A485T;ENSP00000407509:A533T;ENSP00000394348:A485T	ENSP00000221249:A485T	A	+	1	0	PNPLA6	7513932	1.000000	0.71417	0.999000	0.59377	0.168000	0.22595	7.359000	0.79477	1.242000	0.43836	0.462000	0.41574	GCC		0.627	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702	
SLC1A6	6511	broad.mit.edu	37	19	15067342	15067342	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr19:15067342G>C	ENST00000221742.3	-	6	1122	c.1115C>G	c.(1114-1116)cCc>cGc	p.P372R	SLC1A6_ENST00000600144.1_Intron|SLC1A6_ENST00000430939.2_Missense_Mutation_p.P308R	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	372					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						CCCAATGAAGGGGAAGGGGTT	0.592																																						uc002naa.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1114-1116)cCc>cGc		Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	L-Glutamic Acid(DB00142)						158.0	121.0	133.0					19																	15067342		2203	4300	6503	SO:0001583	missense	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15067342G>C		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1115C>G	19.37:g.15067342G>C	ENSP00000221742:p.Pro372Arg					SLC1A6_uc010dzu.1_Intron|SLC1A6_uc010xod.1_Missense_Mutation_p.P308R	p.P372R	NM_005071	NP_005062	P48664	EAA4_HUMAN			5	1122	-			372					Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	c.1115C>G	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	g	4.347	0.063921	0.08388	.	.	ENSG00000105143	ENST00000430939;ENST00000221742	T;T	0.56103	0.48;0.48	3.96	3.96	0.45880	.	0.317322	0.33110	N	0.005278	T	0.34395	0.0896	N	0.11023	0.085	0.80722	D	1	B;B	0.17667	0.023;0.004	B;B	0.36885	0.235;0.01	T	0.15752	-1.0426	10	0.17832	T	0.49	-23.6006	7.6712	0.28460	0.1155:0.0:0.8845:0.0	.	308;372	E7EV13;P48664	.;EAA4_HUMAN	R	308;372	ENSP00000409386:P308R;ENSP00000221742:P372R	ENSP00000221742:P372R	P	-	2	0	SLC1A6	14928342	0.938000	0.31826	1.000000	0.80357	0.987000	0.75469	1.169000	0.31871	2.225000	0.72522	0.591000	0.81541	CCC		0.592	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071	
RASAL3	64926	broad.mit.edu	37	19	15574925	15574925	+	Missense_Mutation	SNP	C	C	T	rs201278861		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr19:15574925C>T	ENST00000343625.7	-	2	330	c.245G>A	c.(244-246)cGc>cAc	p.R82H		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	82					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GAGTCGAAGGCGACTGGTCCG	0.672																																						uc002nbe.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						c.(244-246)cGc>cAc		Homo sapiens RAS protein activator like 3 (RASAL3), mRNA.							19.0	22.0	21.0					19																	15574925		2001	4174	6175	SO:0001583	missense	64926				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr19:15574925C>T		CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.245G>A	19.37:g.15574925C>T	ENSP00000341905:p.Arg82His						p.R82H	NM_022904	NP_075055	Q86YV0	RASL3_HUMAN			1	331	-			82					Q8N2T9|Q9H735	Missense_Mutation	SNP	ENST00000343625.7	37	c.245G>A	CCDS46006.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.810290	0.32053	.	.	ENSG00000105122	ENST00000343625	T	0.26810	1.71	4.11	3.06	0.35304	.	0.000000	0.32548	U	0.005960	T	0.24044	0.0582	M	0.62723	1.935	0.33498	D	0.589532	B	0.18310	0.027	B	0.12156	0.007	T	0.21280	-1.0250	10	0.38643	T	0.18	.	8.428	0.32739	0.0:0.8856:0.0:0.1144	.	82	Q86YV0	RASL3_HUMAN	H	82	ENSP00000341905:R82H	ENSP00000341905:R82H	R	-	2	0	RASAL3	15435925	0.995000	0.38212	0.916000	0.36221	0.339000	0.28857	2.074000	0.41529	1.029000	0.39812	0.462000	0.41574	CGC		0.672	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461331.3	NM_022904	
F2RL3	9002	broad.mit.edu	37	19	17000842	17000842	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr19:17000842C>T	ENST00000248076.3	+	2	898	c.568C>T	c.(568-570)Cgg>Tgg	p.R190W	F2RL3_ENST00000599210.1_3'UTR	NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	190					blood coagulation (GO:0007596)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CCTGCGTGGCCGGCGCCTGGC	0.711																																						uc002nfa.3																			0				cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(568-570)Cgg>Tgg		Homo sapiens coagulation factor II (thrombin) receptor-like 3 (F2RL3), mRNA.																																				SO:0001583	missense	9002				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity	g.chr19:17000842C>T	AF055917	CCDS12350.1	19p12	2012-08-08						"""GPCR / Class A : Protease activated receptors"""	3540	protein-coding gene	gene with protein product	"""proteinase-activated receptor-4"""	602779				9618465	Standard	XM_005260139		Approved	PAR4	uc002nfa.3	Q96RI0		ENST00000248076.3:c.568C>T	19.37:g.17000842C>T	ENSP00000248076:p.Arg190Trp						p.R190W	NM_003950	NP_003941	Q96RI0	PAR4_HUMAN			1	743	+			190					O76067|Q6DK42	Missense_Mutation	SNP	ENST00000248076.3	37	c.568C>T	CCDS12350.1	.	.	.	.	.	.	.	.	.	.	C	8.762	0.923860	0.18056	.	.	ENSG00000127533	ENST00000248076	T	0.73152	-0.72	4.15	1.86	0.25419	GPCR, rhodopsin-like superfamily (1);	1.372930	0.05526	N	0.563055	T	0.59390	0.2190	L	0.41573	1.285	0.09310	N	1	B	0.22346	0.068	B	0.15052	0.012	T	0.45323	-0.9269	10	0.48119	T	0.1	.	3.2081	0.06672	0.1755:0.5523:0.1704:0.1017	.	190	Q96RI0	PAR4_HUMAN	W	190	ENSP00000248076:R190W	ENSP00000248076:R190W	R	+	1	2	F2RL3	16861842	0.000000	0.05858	0.013000	0.15412	0.349000	0.29174	0.192000	0.17096	0.174000	0.19809	-0.479000	0.04858	CGG		0.711	F2RL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462875.1		
FAM98C	147965	broad.mit.edu	37	19	38899502	38899504	+	In_Frame_Del	DEL	AAG	AAG	-	rs372349446		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr19:38899502_38899504delAAG	ENST00000252530.5	+	8	1049_1051	c.1030_1032delAAG	c.(1030-1032)aagdel	p.K349del	FAM98C_ENST00000588262.1_3'UTR|FAM98C_ENST00000343358.7_In_Frame_Del_p.K267del	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	349										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TTGGGGTCGCAAGAAGAAGAAGA	0.606																																						uc002oin.1																			0				endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1030-1032)aagdel		Homo sapiens family with sequence similarity 98, member C (FAM98C), mRNA.				414,186,2888		21,2,370,1,182,1168						-2.6	0.1		dbSNP_134	37	186,506,7042		7,0,172,3,500,3185	no	codingComplex	FAM98C	NM_174905.3		28,2,542,4,682,4353	A1A1,A1A2,A1R,A2A2,A2R,RR		8.9475,17.2018,11.5131				600,692,9930				SO:0001651	inframe_deletion	147965							g.chr19:38899502_38899504delAAG		CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.1030_1032delAAG	19.37:g.38899511_38899513delAAG	ENSP00000252530:p.Lys349del					FAM98C_uc002oio.1_In_Frame_Del_p.K267del|FAM98C_uc010xtz.1_3'UTR	p.K349del	NM_174905	NP_777565	Q17RN3	FA98C_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		7	1049_1051	+	all_cancers(60;3.95e-06)		349					A6NMW3|Q66K45	In_Frame_Del	DEL	ENST00000252530.5	37	c.1030_1032delAAG	CCDS42562.1																																																																																				0.606	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459222.1	NM_174905	
RASGRP4	115727	broad.mit.edu	37	19	38909096	38909096	+	Missense_Mutation	SNP	C	C	G	rs372706430		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr19:38909096C>G	ENST00000587738.1	-	7	842	c.772G>C	c.(772-774)Gtg>Ctg	p.V258L	RASGRP4_ENST00000587753.1_Missense_Mutation_p.V258L|RASGRP4_ENST00000293062.9_Intron|RASGRP4_ENST00000426920.2_Intron|RASGRP4_ENST00000586305.1_Missense_Mutation_p.V244L|RASGRP4_ENST00000454404.2_Missense_Mutation_p.V224L|RASGRP4_ENST00000433821.2_Missense_Mutation_p.V258L			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	258	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGGCTCAGCACCATCACCTGC	0.662																																						uc021uub.1																			0				cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23						c.(772-774)Gtg>Ctg		Homo sapiens RAS guanyl releasing protein 4 (RASGRP4), transcript variant a, mRNA.		C	LEU/VAL,LEU/VAL,LEU/VAL,LEU/VAL,,,LEU/VAL	0,4174		0,0,2087	25.0	32.0	30.0		730,772,772,670,,,772	3.7	1.0	19		30	1,8385		0,1,4192	no	missense,missense,missense,missense,intron,intron,missense	RASGRP4	NM_001146202.1,NM_001146203.1,NM_001146204.1,NM_001146205.1,NM_001146206.1,NM_001146207.1,NM_170604.2	32,32,32,32,,,32	0,1,6279	GG,GC,CC		0.0119,0.0,0.0080	probably-damaging,probably-damaging,probably-damaging,probably-damaging,,,probably-damaging	244/660,258/582,258/605,224/640,,,258/674	38909096	1,12559	2087	4193	6280	SO:0001583	missense	115727				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity	g.chr19:38909096C>G	AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"""EF-hand domain containing"""	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.772G>C	19.37:g.38909096C>G	ENSP00000465772:p.Val258Leu					RASGRP4_uc010efz.2_Non-coding_Transcript|RASGRP4_uc010ega.2_Non-coding_Transcript|RASGRP4_uc021utz.1_Missense_Mutation_p.V258L|RASGRP4_uc021uua.1_Missense_Mutation_p.V224L|RASGRP4_uc021uuc.1_Missense_Mutation_p.V258L|RASGRP4_uc021uud.1_Intron|RASGRP4_uc021uue.1_Intron|RASGRP4_uc021uuf.1_Missense_Mutation_p.V244L	p.V258L	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		6	986	-	all_cancers(60;4.21e-06)		258			Ras-GEF.		A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Missense_Mutation	SNP	ENST00000587738.1	37	c.772G>C	CCDS46068.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.707432	0.48412	0.0	1.19E-4	ENSG00000171777	ENST00000433821;ENST00000405332;ENST00000454404	T	0.32988	1.43	4.72	3.68	0.42216	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.195166	0.43919	D	0.000520	T	0.50274	0.1606	M	0.75085	2.285	0.41747	D	0.98964	D;D;D;D;D	0.69078	0.97;0.997;0.97;0.987;0.997	D;D;D;D;D	0.80764	0.978;0.994;0.978;0.918;0.994	T	0.52495	-0.8568	10	0.87932	D	0	-18.3011	7.2573	0.26183	0.0:0.8041:0.0:0.1959	.	258;224;258;244;258	C0LTP2;C0LTP4;C0LTP3;Q8TDF6-2;Q8TDF6	.;.;.;.;GRP4_HUMAN	L	258	ENSP00000411878:V258L	ENSP00000384614:V258L	V	-	1	0	RASGRP4	43600936	1.000000	0.71417	1.000000	0.80357	0.114000	0.19823	2.094000	0.41719	1.194000	0.43101	-0.291000	0.09656	GTG		0.662	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460540.1	NM_170604	
SIGLEC10	89790	broad.mit.edu	37	19	51919569	51919569	+	Missense_Mutation	SNP	G	G	A	rs200888407		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr19:51919569G>A	ENST00000339313.5	-	4	865	c.749C>T	c.(748-750)aCg>aTg	p.T250M	CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.T250M|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.T192M|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.T192M|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.T167M|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000353836.5_Missense_Mutation_p.T250M|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.T202M|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.T192M|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.T250M			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	250					cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		AGTACCTGGCGTGTTGTCACG	0.547													g|||	1	0.000199681	0.0008	0.0	5008	,	,		16377	0.0		0.0	False		,,,				2504	0.0					uc002pwo.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(748-750)aCg>aTg		Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.							120.0	121.0	121.0					19																	51919569		2203	4300	6503	SO:0001583	missense	89790				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr19:51919569G>A	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.749C>T	19.37:g.51919569G>A	ENSP00000345243:p.Thr250Met					SIGLEC10_uc002pwp.3_Missense_Mutation_p.T192M|SIGLEC10_uc021uyl.1_Missense_Mutation_p.T167M|SIGLEC10_uc002pwq.3_Missense_Mutation_p.T192M|SIGLEC10_uc010ycz.2_Missense_Mutation_p.T202M|SIGLEC10_uc002pws.2_Missense_Mutation_p.T192M|SIGLEC10_uc002pwr.3_Missense_Mutation_p.T250M|SIGLEC10_uc010ycy.2_Missense_Mutation_p.T250M|SIGLEC10_uc010eow.3_Missense_Mutation_p.R15C|LOC100129083_uc021uym.1_Intron	p.T250M	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)	3	971	-		all_neural(266;0.0199)	250					A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	ENST00000339313.5	37	c.749C>T	CCDS12832.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	8.262	0.811381	0.16537	.	.	ENSG00000142512	ENST00000353836;ENST00000432469;ENST00000442846;ENST00000356298;ENST00000441969;ENST00000525998;ENST00000439889;ENST00000436984;ENST00000339313;ENST00000529627	T;T;T;T;T;T;T;T;T;T	0.62364	0.86;2.14;1.66;0.73;1.95;1.84;0.6;1.89;0.73;0.03	4.4	-8.8	0.00817	.	1.373680	0.04807	N	0.434525	T	0.45316	0.1336	L	0.51422	1.61	0.09310	N	1	B;B;P;B;B;B;P	0.51147	0.162;0.403;0.942;0.108;0.33;0.287;0.607	B;B;B;B;B;B;B	0.40199	0.029;0.026;0.322;0.063;0.071;0.064;0.066	T	0.53222	-0.8469	10	0.46703	T	0.11	.	2.474	0.04571	0.2499:0.4272:0.1259:0.197	.	202;250;192;250;192;192;250	C9JM10;E9PL79;C9JJ33;Q96LC7-2;Q96LC7-6;Q96LC7-3;Q96LC7	.;.;.;.;.;.;SIG10_HUMAN	M	250;167;192;250;192;250;192;202;250;64	ENSP00000342389:T250M;ENSP00000396742:T167M;ENSP00000395475:T192M;ENSP00000348646:T250M;ENSP00000408387:T192M;ENSP00000431444:T250M;ENSP00000389132:T192M;ENSP00000414324:T202M;ENSP00000345243:T250M;ENSP00000435281:T64M	ENSP00000345243:T250M	T	-	2	0	SIGLEC10	56611381	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.445000	0.02401	-1.642000	0.01521	-0.680000	0.03767	ACG		0.547	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130	
ZSCAN1	284312	broad.mit.edu	37	19	58564824	58564824	+	Missense_Mutation	SNP	C	C	T	rs370250109		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr19:58564824C>T	ENST00000282326.1	+	6	879	c.632C>T	c.(631-633)cCg>cTg	p.P211L		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	211					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCTCTGAAGCCGAGTATCTGG	0.652																																						uc002qrc.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(631-633)cCg>cTg		Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.		C	LEU/PRO	0,4406		0,0,2203	50.0	53.0	52.0		632	1.0	0.0	19		52	1,8597	1.2+/-3.3	0,1,4298	no	missense	ZSCAN1	NM_182572.3	98	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	211/409	58564824	1,13003	2203	4299	6502	SO:0001583	missense	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58564824C>T	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.632C>T	19.37:g.58564824C>T	ENSP00000282326:p.Pro211Leu						p.P211L	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	5	879	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	211					Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	c.632C>T	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.680656	0.29872	0.0	1.16E-4	ENSG00000152467	ENST00000282326	T	0.05139	3.49	1.04	1.04	0.20106	.	.	.	.	.	T	0.03608	0.0103	N	0.14661	0.345	0.80722	D	1	B	0.22080	0.064	B	0.15052	0.012	T	0.44862	-0.9300	9	0.33940	T	0.23	.	7.9385	0.29944	0.0:1.0:0.0:0.0	.	211	Q8NBB4	ZSCA1_HUMAN	L	211	ENSP00000282326:P211L	ENSP00000282326:P211L	P	+	2	0	ZSCAN1	63256636	0.003000	0.15002	0.041000	0.18516	0.008000	0.06430	1.335000	0.33839	0.863000	0.35553	0.491000	0.48974	CCG		0.652	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572	
TTC7A	57217	broad.mit.edu	37	2	47206005	47206005	+	Silent	SNP	A	A	G			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr2:47206005A>G	ENST00000319190.5	+	5	1091	c.723A>G	c.(721-723)gaA>gaG	p.E241E	TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000263737.6_5'UTR|TTC7A_ENST00000394850.2_Silent_p.E241E|TTC7A_ENST00000409245.1_Silent_p.E207E	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	241					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			ACTTCCTGGAAGCTGCCCTCC	0.537																																						uc010fbb.3																			0				breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(721-723)gaA>gaG		Homo sapiens tetratricopeptide repeat domain 7A (TTC7A), mRNA.							101.0	83.0	89.0					2																	47206005		2203	4300	6503	SO:0001819	synonymous_variant	57217						binding	g.chr2:47206005A>G	AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"""Tetratricopeptide (TTC) repeat domain containing"""	19750	protein-coding gene	gene with protein product		609332	"""tetratricopeptide repeat domain 7"""	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.723A>G	2.37:g.47206005A>G						TTC7A_uc002rvm.3_Silent_p.E207E|TTC7A_uc002rvn.1_Silent_p.E122E|TTC7A_uc002rvo.3_Silent_p.E241E|TTC7A_uc010fbc.3_5'UTR|TTC7A_uc002rvp.3_Silent_p.E122E|TTC7A_uc002rvq.3_5'UTR	p.E241E	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		4	1091	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	241					Q6PIX4|Q8ND67|Q9BUS3	Silent	SNP	ENST00000319190.5	37	c.723A>G	CCDS33193.1																																																																																				0.537	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927	
STON1	11037	broad.mit.edu	37	2	48809567	48809567	+	Missense_Mutation	SNP	C	C	T	rs147440328		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr2:48809567C>T	ENST00000406226.1	+	3	1990	c.1795C>T	c.(1795-1797)Cgc>Tgc	p.R599C	STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.R599C|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.R599C|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.R599C|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.R599C|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.R599C|STON1_ENST00000309835.3_Missense_Mutation_p.R599C|STON1_ENST00000404752.1_Missense_Mutation_p.R599C	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	599	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)		p.R599C(2)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TAAAATGAACCGCCGAGCATG	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		19260	0.001		0.0	False		,,,				2504	0.0					uc002rwp.2																			2	Substitution - Missense(2)	p.R599C(3)	large_intestine(2)	NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91						c.(1795-1797)Cgc>Tgc		Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.		C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	70.0	72.0	72.0		1795,1795,1795,1795,1795	5.7	1.0	2	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	STON1,STON1-GTF2A1L	NM_001198593.1,NM_001198594.1,NM_001198595.1,NM_006873.3,NM_172311.2	180,180,180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	599/1159,599/1136,599/736,599/736,599/1183	48809567	1,13005	2203	4300	6503	SO:0001583	missense	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48809567C>T	AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"""stoned B homolog 1 (Drosophila)"""	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.1795C>T	2.37:g.48809567C>T	ENSP00000384615:p.Arg599Cys					STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.R599C|STON1-GTF2A1L_uc002rwo.4_Missense_Mutation_p.R599C|STON1-GTF2A1L_uc010fbm.3_Missense_Mutation_p.R599C|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.R599C	p.R599C	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	1909	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	599					A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Missense_Mutation	SNP	ENST00000406226.1	37	c.1795C>T	CCDS1841.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	20.2	3.957798	0.73902	0.0	1.16E-4	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	T;T;T;T;T;T;T;T	0.14893	2.53;2.53;2.53;2.49;2.47;2.49;2.49;2.68	5.65	5.65	0.86999	Clathrin adaptor, mu subunit, C-terminal (3);	0.088275	0.85682	D	0.000000	T	0.41419	0.1158	M	0.74881	2.28	0.54753	D	0.999988	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.966;0.995	T	0.15723	-1.0427	10	0.87932	D	0	.	12.4592	0.55723	0.2736:0.7264:0.0:0.0	.	599;599;599	A8MXJ1;Q53S48;Q9Y6Q2	.;.;STON1_HUMAN	C	599	ENSP00000385273:R599C;ENSP00000384615:R599C;ENSP00000310969:R599C;ENSP00000385499:R599C;ENSP00000385701:R599C;ENSP00000378236:R599C;ENSP00000311493:R599C;ENSP00000378234:R599C	ENSP00000310969:R599C	R	+	1	0	STON1-GTF2A1L;STON1	48663071	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.572000	0.74005	2.941000	0.99782	0.655000	0.94253	CGC		0.483	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	NM_006873	
EDAR	10913	broad.mit.edu	37	2	109522815	109522815	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr2:109522815G>A	ENST00000258443.2	-	11	1403	c.973C>T	c.(973-975)Cgg>Tgg	p.R325W	EDAR_ENST00000376651.1_Missense_Mutation_p.R357W|EDAR_ENST00000409271.1_Missense_Mutation_p.R357W	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	325					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						TTTTTCCTCCGGCTTTGAATC	0.512																																						uc010fjn.3																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						c.(1069-1071)Cgg>Tgg		Homo sapiens ectodysplasin A receptor (EDAR), mRNA.							77.0	77.0	77.0					2																	109522815		2203	4300	6503	SO:0001583	missense	10913				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	g.chr2:109522815G>A	AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"""Tumor necrosis factor receptor superfamily"""	2895	protein-coding gene	gene with protein product		604095	"""ectodysplasin 1, anhidrotic receptor"""	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.973C>T	2.37:g.109522815G>A	ENSP00000258443:p.Arg325Trp					EDAR_uc010yws.2_Missense_Mutation_p.R357W|EDAR_uc002teq.4_Missense_Mutation_p.R325W	p.R357W	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN			10	1616	-			325					B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Missense_Mutation	SNP	ENST00000258443.2	37	c.1069C>T	CCDS2081.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993661	0.54041	.	.	ENSG00000135960	ENST00000409271;ENST00000258443;ENST00000376651	D;D;D	0.94046	-3.34;-3.27;-3.34	5.39	4.43	0.53597	.	0.000000	0.85682	D	0.000000	D	0.96207	0.8763	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.993	D	0.96633	0.9468	10	0.87932	D	0	-12.9995	16.7903	0.85588	0.0:0.0:0.8623:0.1376	.	357;325	E9PC98;Q9UNE0	.;EDAR_HUMAN	W	357;325;357	ENSP00000386371:R357W;ENSP00000258443:R325W;ENSP00000365839:R357W	ENSP00000258443:R325W	R	-	1	2	EDAR	108889247	1.000000	0.71417	1.000000	0.80357	0.240000	0.25518	1.790000	0.38734	2.537000	0.85549	0.462000	0.41574	CGG		0.512	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1		
CNTNAP5	129684	broad.mit.edu	37	2	125504853	125504853	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr2:125504853C>A	ENST00000431078.1	+	14	2486	c.2122C>A	c.(2122-2124)Cct>Act	p.P708T		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	708	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGAAAGGCACCCTTACTGGGG	0.537																																						uc010flu.3																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(2125-2127)Cct>Act		Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.							105.0	104.0	105.0					2																	125504853		2033	4197	6230	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125504853C>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2122C>A	2.37:g.125504853C>A	ENSP00000399013:p.Pro708Thr					CNTNAP5_uc002tno.3_Missense_Mutation_p.P708T	p.P709T	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	13	2489	+			708			Fibrinogen C-terminal.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.2125C>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.122475	0.00346	.	.	ENSG00000155052	ENST00000431078	T	0.08282	3.11	6.04	3.26	0.37387	.	0.408600	0.20782	N	0.085773	T	0.03095	0.0091	N	0.02247	-0.625	0.24123	N	0.995791	B	0.11235	0.004	B	0.09377	0.004	T	0.45745	-0.9240	10	0.20046	T	0.44	.	8.3981	0.32570	0.3987:0.5334:0.0:0.068	.	708	Q8WYK1	CNTP5_HUMAN	T	708	ENSP00000399013:P708T	ENSP00000399013:P708T	P	+	1	0	CNTNAP5	125221323	0.301000	0.24444	0.506000	0.27664	0.133000	0.20885	1.580000	0.36547	0.433000	0.26313	-0.188000	0.12872	CCT		0.537	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		
POTEE	445582	broad.mit.edu	37	2	131984443	131984443	+	Silent	SNP	A	A	G			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr2:131984443A>G	ENST00000356920.5	+	4	952	c.858A>G	c.(856-858)caA>caG	p.Q286Q	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|RNU6-127P_ENST00000390897.1_RNA|POTEE_ENST00000358087.5_Silent_p.Q296Q	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	286					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											AAAAACAGCAAGTCGTGAAAT	0.333																																						uc002tsn.2																			0											c.(856-858)caA>caG		Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.							96.0	113.0	107.0					2																	131984443		1504	2704	4208	SO:0001819	synonymous_variant	445582						ATP binding	g.chr2:131984443A>G	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.858A>G	2.37:g.131984443A>G						PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	p.Q286Q	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN			3	910	+			286					Q6S8J4|Q6S8J5|Q6S8J8	Silent	SNP	ENST00000356920.5	37	c.858A>G	CCDS46414.1																																																																																				0.333	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538	
LOC401010	401010	broad.mit.edu	37	2	132201663	132201663	+	IGR	SNP	T	T	C	rs386650546|rs1317139	byFrequency	TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr2:132201663T>C								AC073869.19 (35041 upstream) : RP11-109E12.1 (17730 downstream)																							CCATCGTCTCTGCCACACAGG	0.607													.|||	2755	0.55012	0.7216	0.6066	5008	,	,		20245	0.7629		0.2674	False		,,,				2504	0.3497					uc002tst.2																			0											c.(337-339)gcA>gcG		Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																																				SO:0001628	intergenic_variant	401010							g.chr2:132201663T>C																													2.37:g.132201663T>C							p.A113A							0	805	-									Silent	SNP		37	c.339A>G																																																																																				0	0.607								
LOC401010	401010	broad.mit.edu	37	2	132201718	132201718	+	IGR	SNP	T	T	C	rs2001215	byFrequency	TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr2:132201718T>C								AC073869.19 (35096 upstream) : RP11-109E12.1 (17675 downstream)																							GATGTCCACATGGAGCTTCCC	0.597													.|||	1941	0.38758	0.2035	0.5259	5008	,	,		19209	0.7589		0.2326	False		,,,				2504	0.3149					uc002tst.2																			0											c.(283-285)cAt>cGt		Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																																				SO:0001628	intergenic_variant	401010							g.chr2:132201718T>C																													2.37:g.132201718T>C							p.H95R							0	750	-									Missense_Mutation	SNP		37	c.284A>G																																																																																				0	0.597								
ZNF804A	91752	broad.mit.edu	37	2	185731110	185731110	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr2:185731110G>C	ENST00000302277.6	+	2	720	c.126G>C	c.(124-126)aaG>aaC	p.K42N		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	42							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ATGCTGAGAAGGAAAATACCA	0.363																																						uc002uph.3																			0		p.E41Q(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						c.(124-126)aaG>aaC		Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.							60.0	59.0	60.0					2																	185731110		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185731110G>C	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.126G>C	2.37:g.185731110G>C	ENSP00000303252:p.Lys42Asn						p.K42N	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			1	720	+			42					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.126G>C	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.986296	0.74589	.	.	ENSG00000170396	ENST00000302277	T	0.14266	2.52	5.68	2.89	0.33648	.	0.000000	0.50627	D	0.000105	T	0.20861	0.0502	N	0.24115	0.695	0.43642	D	0.996044	D	0.89917	1.0	D	0.91635	0.999	T	0.01706	-1.1291	10	0.87932	D	0	-18.6615	9.7334	0.40374	0.2226:0.0:0.7774:0.0	.	42	Q7Z570	Z804A_HUMAN	N	42	ENSP00000303252:K42N	ENSP00000303252:K42N	K	+	3	2	ZNF804A	185439355	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.730000	0.26043	0.867000	0.35654	0.591000	0.81541	AAG		0.363	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250	
MPP4	58538	broad.mit.edu	37	2	202552079	202552079	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr2:202552079G>A	ENST00000409474.3	-	5	502	c.295C>T	c.(295-297)Cgt>Tgt	p.R99C	MPP4_ENST00000315506.7_Missense_Mutation_p.R99C|MPP4_ENST00000396886.3_Missense_Mutation_p.R99C|MPP4_ENST00000359962.5_Missense_Mutation_p.R99C|MPP4_ENST00000447335.2_Missense_Mutation_p.R99C|MPP4_ENST00000428900.2_Missense_Mutation_p.R99C|MPP4_ENST00000409143.1_Intron	NM_033066.2	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	99	L27 2. {ECO:0000255|PROSITE- ProRule:PRU00365}.				protein localization to synapse (GO:0035418)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)		p.R99C(1)		kidney(1)|lung(11)	12						GGGGTTTCACGTAATAACTCC	0.408																																						uc002uyk.4																			1	Substitution - Missense(1)	p.R99C(1)	large_intestine(1)	kidney(1)|lung(11)	12						c.(295-297)Cgt>Tgt		Homo sapiens membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) (MPP4), mRNA.							74.0	70.0	71.0					2																	202552079		1824	4083	5907	SO:0001583	missense	58538					cytoplasm	protein binding	g.chr2:202552079G>A	AF316032	CCDS46491.1	2q33.2	2008-05-15			ENSG00000082126	ENSG00000082126			13680	protein-coding gene	gene with protein product		606575		DLG6		11414766	Standard	NM_033066		Approved		uc002uyk.4	Q96JB8	OTTHUMG00000154525	ENST00000409474.3:c.295C>T	2.37:g.202552079G>A	ENSP00000387278:p.Arg99Cys					MPP4_uc010ftj.3_Missense_Mutation_p.R99C|MPP4_uc010zhq.2_Missense_Mutation_p.R99C|MPP4_uc010zht.2_Intron|MPP4_uc010zhr.2_Missense_Mutation_p.R99C|MPP4_uc010zhs.2_Missense_Mutation_p.R99C|MPP4_uc002uyj.4_Missense_Mutation_p.R99C|MPP4_uc002uyl.4_Non-coding_Transcript|MPP4_uc010ftk.3_Missense_Mutation_p.R99C|MPP4_uc002uym.1_Missense_Mutation_p.R112C|MPP4_uc002uyn.3_Missense_Mutation_p.R99C	p.R99C	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN			4	503	-			99			L27 2.		C9IZK4|Q53TT3|Q6ZNH6|Q96Q43|Q96Q44	Missense_Mutation	SNP	ENST00000409474.3	37	c.295C>T	CCDS46491.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.769432	0.31320	.	.	ENSG00000082126	ENST00000409474;ENST00000315506;ENST00000396886;ENST00000359962;ENST00000315549;ENST00000428900;ENST00000447335	T;T;T;T;T	0.05513	3.43;3.43;3.43;3.44;3.43	5.97	2.41	0.29592	L27, C-terminal (1);L27 (2);	1.206650	0.05650	N	0.585067	T	0.11196	0.0273	M	0.76574	2.34	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.21606	0.021;0.035;0.058;0.028;0.035;0.047;0.051;0.035;0.058	B;B;B;B;B;B;B;B;B	0.21151	0.009;0.011;0.027;0.007;0.007;0.016;0.01;0.007;0.033	T	0.36529	-0.9744	10	0.66056	D	0.02	.	6.2063	0.20604	0.0869:0.1215:0.6656:0.126	.	99;99;99;99;99;99;112;99;99	B4DUF3;E7ET46;B7ZM19;Q96JB8-2;E7EUL8;F8WC25;F8WBH8;Q96JB8;Q96JB8-4	.;.;.;.;.;.;.;MPP4_HUMAN;.	C	99	ENSP00000387278:R99C;ENSP00000319363:R99C;ENSP00000353047:R99C;ENSP00000416781:R99C;ENSP00000406160:R99C	ENSP00000319363:R99C	R	-	1	0	MPP4	202260324	0.066000	0.20996	0.000000	0.03702	0.005000	0.04900	1.131000	0.31406	0.253000	0.21552	0.655000	0.94253	CGT		0.408	MPP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335748.2		
ZNF831	128611	broad.mit.edu	37	20	57768855	57768855	+	Missense_Mutation	SNP	A	A	C			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr20:57768855A>C	ENST00000371030.2	+	1	2781	c.2781A>C	c.(2779-2781)agA>agC	p.R927S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	927							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGGCTCCTAGAGTGCTCTCTG	0.632																																						uc002yan.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(2779-2781)agA>agC		Homo sapiens zinc finger protein 831 (ZNF831), mRNA.							47.0	48.0	48.0					20																	57768855		1945	4146	6091	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57768855A>C	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.2781A>C	20.37:g.57768855A>C	ENSP00000360069:p.Arg927Ser						p.R927S	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			0	2781	+	all_lung(29;0.0085)		927					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.2781A>C	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	A	0.721	-0.783460	0.02907	.	.	ENSG00000124203	ENST00000371030	T	0.04317	3.65	3.83	-7.66	0.01277	.	1.891880	0.03125	N	0.164318	T	0.01695	0.0054	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.42982	-0.9419	10	0.16420	T	0.52	5.1889	1.0163	0.01508	0.2014:0.133:0.2672:0.3984	.	927	Q5JPB2	ZN831_HUMAN	S	927	ENSP00000360069:R927S	ENSP00000360069:R927S	R	+	3	2	ZNF831	57202250	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.429000	0.02437	-2.830000	0.00339	-1.140000	0.01884	AGA		0.632	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457	
CDH4	1002	broad.mit.edu	37	20	60503346	60503346	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr20:60503346G>A	ENST00000360469.5	+	12	1958	c.1870G>A	c.(1870-1872)Gag>Aag	p.E624K	CDH4_ENST00000543233.1_Missense_Mutation_p.E550K	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	624	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCAGATCTGCGAGAAGCCCAA	0.642																																						uc002ybn.2																			0		p.C623C(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(1870-1872)Gag>Aag		Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.							115.0	118.0	117.0					20																	60503346		2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60503346G>A	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1870G>A	20.37:g.60503346G>A	ENSP00000353656:p.Glu624Lys					CDH4_uc002ybr.2_Missense_Mutation_p.E587K|CDH4_uc002ybp.2_Missense_Mutation_p.E550K	p.E624K	NM_001794	NP_001785	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		11	1958	+			624			Cadherin 5.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.1870G>A	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032266	0.75504	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.60672	0.17;0.17	4.56	4.56	0.56223	Cadherin (1);Cadherin-like (1);	0.050514	0.85682	D	0.000000	T	0.60077	0.2241	L	0.60904	1.88	0.80722	D	1	D	0.60575	0.988	P	0.46629	0.522	T	0.63616	-0.6597	9	.	.	.	.	17.3109	0.87210	0.0:0.0:1.0:0.0	.	624	P55283	CADH4_HUMAN	K	624;532;550	ENSP00000353656:E624K;ENSP00000443301:E550K	.	E	+	1	0	CDH4	59936741	1.000000	0.71417	0.606000	0.28943	0.028000	0.11728	9.503000	0.97984	2.062000	0.61559	0.462000	0.41574	GAG		0.642	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794	
HRH3	11255	broad.mit.edu	37	20	60793588	60793588	+	Missense_Mutation	SNP	C	C	T	rs142903103		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr20:60793588C>T	ENST00000340177.5	-	2	660	c.376G>A	c.(376-378)Gtg>Atg	p.V126M	HRH3_ENST00000317393.6_Missense_Mutation_p.V126M	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	126					brain development (GO:0007420)|drinking behavior (GO:0042756)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of serotonin secretion (GO:0014063)|neurotransmitter secretion (GO:0007269)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of norepinephrine secretion (GO:0014061)|response to organic cyclic compound (GO:0014070)	integral component of plasma membrane (GO:0005887)|myelin sheath (GO:0043209)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|histamine receptor activity (GO:0004969)			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Betahistine(DB06698)|Histamine Phosphate(DB00667)|Mirtazapine(DB00370)	CTGATGAGCACGATGTTGAAG	0.647																																						uc002yci.3																			0				breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						c.(376-378)Gtg>Atg		Homo sapiens histamine receptor H3 (HRH3), mRNA.	Histamine Phosphate(DB00667)	C	MET/VAL	1,4401	2.1+/-5.4	0,1,2200	63.0	49.0	54.0		376	4.7	1.0	20	dbSNP_134	54	0,8598		0,0,4299	no	missense	HRH3	NM_007232.2	21	0,1,6499	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	126/446	60793588	1,12999	2201	4299	6500	SO:0001583	missense	11255				G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity	g.chr20:60793588C>T	AF140538	CCDS13493.1	20q13.33	2013-09-19			ENSG00000101180	ENSG00000101180		"""GPCR / Class A : Histamine receptors"""	5184	protein-coding gene	gene with protein product		604525				10347254	Standard	NM_007232		Approved	GPCR97	uc002ycf.2	Q9Y5N1	OTTHUMG00000032899	ENST00000340177.5:c.376G>A	20.37:g.60793588C>T	ENSP00000342560:p.Val126Met					HRH3_uc002ycf.2_Missense_Mutation_p.V126M|HRH3_uc002ych.3_Missense_Mutation_p.V126M|HRH3_uc002ycg.3_Missense_Mutation_p.V126M	p.V126M	NM_007232	NP_009163	Q9Y5N1	HRH3_HUMAN	BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		1	673	-	Breast(26;7.76e-09)		126					Q4QRI7|Q9GZX2|Q9H4K8	Missense_Mutation	SNP	ENST00000340177.5	37	c.376G>A	CCDS13493.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.706960	0.89018	2.27E-4	0.0	ENSG00000101180	ENST00000340177;ENST00000317393;ENST00000370797	T;T	0.72942	-0.7;-0.7	4.66	4.66	0.58398	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.81427	0.4820	L	0.53249	1.67	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.994;0.999;0.997	D;P;D;D	0.91635	0.999;0.903;0.937;0.951	T	0.83052	-0.0152	10	0.56958	D	0.05	-27.4541	17.5272	0.87804	0.0:1.0:0.0:0.0	.	126;126;126;126	Q9Y5N1-2;E7EWA7;Q8WXZ9;Q9Y5N1	.;.;.;HRH3_HUMAN	M	126	ENSP00000342560:V126M;ENSP00000321482:V126M	ENSP00000321482:V126M	V	-	1	0	HRH3	60226983	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.854000	0.69503	2.131000	0.65755	0.462000	0.41574	GTG		0.647	HRH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079994.1	NM_007232	
KRTAP13-1	140258	broad.mit.edu	37	21	31768677	31768677	+	Silent	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr21:31768677C>T	ENST00000355459.2	+	1	286	c.273C>T	c.(271-273)ccC>ccT	p.P91P		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	91	5 X 10 AA approximate repeats.					intermediate filament (GO:0005882)				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTGCAGTCCCTGCCAGACAA	0.612																																						uc002yoa.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(271-273)ccC>ccT		Homo sapiens keratin associated protein 13-1 (KRTAP13-1), mRNA.							70.0	69.0	69.0					21																	31768677		2203	4300	6503	SO:0001819	synonymous_variant	140258					intermediate filament		g.chr21:31768677C>T	AJ457066	CCDS13590.2	21q22.11	2013-06-20			ENSG00000198390	ENSG00000198390		"""Keratin associated proteins"""	18924	protein-coding gene	gene with protein product		608718				12359730	Standard	NM_181599		Approved	KAP13.1	uc002yoa.3	Q8IUC0	OTTHUMG00000057800	ENST00000355459.2:c.273C>T	21.37:g.31768677C>T							p.P91P	NM_181599	NP_853630	Q8IUC0	KR131_HUMAN			0	286	+			91			5 X 10 AA approximate repeats.		Q14D20|Q3LI79	Silent	SNP	ENST00000355459.2	37	c.273C>T	CCDS13590.2																																																																																				0.612	KRTAP13-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128252.3		
FAM3B	54097	broad.mit.edu	37	21	42720528	42720528	+	Silent	SNP	C	C	T	rs370045496		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr21:42720528C>T	ENST00000357985.2	+	7	641	c.495C>T	c.(493-495)aaC>aaT	p.N165N	FAM3B_ENST00000398652.3_Silent_p.N204N|FAM3B_ENST00000398647.3_Silent_p.N117N|FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398646.3_Silent_p.N188N	NM_058186.3	NP_478066.3	P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	165					apoptotic process (GO:0006915)|insulin secretion (GO:0030073)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				GACTGAATAACGATGCCAAGA	0.463																																						uc002yzb.1																			0				central_nervous_system(2)|endometrium(1)|lung(2)	5						c.(493-495)aaC>aaT		Homo sapiens family with sequence similarity 3, member B (FAM3B), transcript variant 1, mRNA.							109.0	95.0	100.0					21																	42720528		2203	4300	6503	SO:0001819	synonymous_variant	54097				apoptosis|insulin secretion	extracellular space	cytokine activity	g.chr21:42720528C>T	AF494379	CCDS13671.1, CCDS42930.1	21q22.3	2014-08-14	2002-05-23	2002-06-20	ENSG00000183844	ENSG00000183844			1253	protein-coding gene	gene with protein product	"""pancreatic-derived factor"""	608617	"""chromosome 21 open reading frame 11"""	C21orf11			Standard	NM_058186		Approved	D21M16SJHU19e, PRED44, 2-21, ORF9, C21orf76, PANDER	uc002yzb.1	P58499	OTTHUMG00000086752	ENST00000357985.2:c.495C>T	21.37:g.42720528C>T						FAM3B_uc002yza.2_Non-coding_Transcript|FAM3B_uc002yzc.1_Silent_p.N117N	p.N165N	NM_058186	NP_478066	P58499	FAM3B_HUMAN			6	641	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)	165						Silent	SNP	ENST00000357985.2	37	c.495C>T	CCDS13671.1																																																																																				0.463	FAM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195142.1	NM_058186	
SHISA5	51246	broad.mit.edu	37	3	48520627	48520627	+	Silent	SNP	C	C	T	rs369971951		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr3:48520627C>T	ENST00000296444.2	-	3	609	c.273G>A	c.(271-273)tcG>tcA	p.S91S	SHISA5_ENST00000444115.1_Silent_p.S60S|SHISA5_ENST00000443308.2_Silent_p.S84S|SHISA5_ENST00000442747.1_Silent_p.S60S	NM_001272065.1|NM_016479.3	NP_001258994.1|NP_057563.3	Q8N114	SHSA5_HUMAN	shisa family member 5	91					intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			large_intestine(1)|lung(1)	2						ACCTCAGCGCCGAGCCCAGCT	0.592																																						uc003ctp.1																			0				large_intestine(1)|lung(1)	2						c.(271-273)tcG>tcA		Homo sapiens shisa homolog 5 (Xenopus laevis) (SHISA5), mRNA.							40.0	36.0	37.0					3																	48520627		2203	4300	6503	SO:0001819	synonymous_variant	51246				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	signal transducer activity|WW domain binding	g.chr3:48520627C>T	AF520698	CCDS2770.1, CCDS63621.1, CCDS63622.1, CCDS63623.1	3p21.31	2013-07-31	2013-07-31		ENSG00000164054	ENSG00000164054		"""Shisa homologs"""	30376	protein-coding gene	gene with protein product		607290	"""shisa homolog 5 (Xenopus laevis)"""			11042152, 12135983	Standard	NM_016479		Approved	SCOTIN, hShisa5	uc011bbk.1	Q8N114	OTTHUMG00000133529	ENST00000296444.2:c.273G>A	3.37:g.48520627C>T						SHISA5_uc011bbl.2_5'UTR|SHISA5_uc003cto.1_Silent_p.S60S|SHISA5_uc003cts.1_Silent_p.S60S	p.S91S	NM_016479	NP_057563	Q8N114	SHSA5_HUMAN			2	407	-			91					B3KW99|F8W9N8|Q69YY9|Q7Z433|Q8NHL9|Q96MW8|Q9BV58	Silent	SNP	ENST00000296444.2	37	c.273G>A	CCDS2770.1																																																																																				0.592	SHISA5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257504.3	NM_016479	
CACNA2D2	9254	broad.mit.edu	37	3	50513588	50513588	+	Silent	SNP	G	G	A	rs371367882		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr3:50513588G>A	ENST00000479441.1	-	2	248	c.249C>T	c.(247-249)ggC>ggT	p.G83G	CACNA2D2_ENST00000424201.2_Silent_p.G83G|CACNA2D2_ENST00000435965.1_Silent_p.G83G|CACNA2D2_ENST00000423994.2_Silent_p.G83G|CACNA2D2_ENST00000360963.3_Silent_p.G14G|CACNA2D2_ENST00000266039.3_Silent_p.G83G|CACNA2D2_ENST00000429770.1_Silent_p.G83G|CACNA2D2_ENST00000487413.1_5'UTR|CACNA2D2_ENST00000395083.1_Silent_p.G83G			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	83					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TCCGCATCACGCCGTCGACCT	0.632																																						uc003daq.3																			0		p.G83D(1)		breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31						c.(247-249)ggC>ggT		Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	Gabapentin(DB00996)	G	,,	1,4401		0,1,2200	56.0	52.0	54.0		249,249,249	-6.0	0.8	3		54	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	CACNA2D2	NM_001005505.1,NM_001174051.1,NM_006030.2	,,	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	,,	83/1146,83/1151,83/1144	50513588	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	9254				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:50513588G>A	AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"""Calcium channel subunits"""	1400	protein-coding gene	gene with protein product	"""gene 26"""	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.249C>T	3.37:g.50513588G>A						CACNA2D2_uc003dap.3_Silent_p.G83G	p.G83G	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	1	287	-			83					A7MD15|Q9NY48|Q9UEW0|Q9Y268	Silent	SNP	ENST00000479441.1	37	c.249C>T	CCDS54588.1																																																																																				0.632	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1	NM_006030	
ZNF717	100131827	broad.mit.edu	37	3	75790798	75790798	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr3:75790798G>A	ENST00000478296.1	-	0	273				ZNF717_ENST00000477374.1_Silent_p.D49D|ZNF717_ENST00000491507.1_5'UTR|ZNF717_ENST00000400845.3_Silent_p.D42D|ZNF717_ENST00000422325.1_Silent_p.D49D			Q9BY31	ZN717_HUMAN	zinc finger protein 717						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						CCAGCATCACGTCCCTGTACA	0.502																																						uc011bgi.2																			0				autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						c.(145-147)gaC>gaT		Homo sapiens zinc finger protein 717 (ZNF717), mRNA.							18.0	14.0	15.0					3																	75790798		450	1250	1700			100131827				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr3:75790798G>A	AF226994		3p12.3	2013-01-08			ENSG00000227124	ENSG00000227124		"""Zinc fingers, C2H2-type"", ""-"""	29448	protein-coding gene	gene with protein product			"""zinc finger protein 838"""	ZNF838			Standard	NM_001128223		Approved	X17	uc011bgi.2	Q9BY31	OTTHUMG00000158965	ENST00000478296.1:c.-4C>T	3.37:g.75790798G>A						ZNF717_uc003dpw.3_Non-coding_Transcript	p.D49D	NM_001128223	NP_001121695	C9JSV9	C9JSV9_HUMAN			2	470	-			49						Silent	SNP	ENST00000478296.1	37	c.147C>T																																																																																					0.502	ZNF717-002	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000352764.2	NM_001128223	
PIK3CA	5290	broad.mit.edu	37	3	178916726	178916726	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr3:178916726G>A	ENST00000263967.3	+	2	270	c.113G>A	c.(112-114)cGt>cAt	p.R38H		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	38	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.		R -> H (in CRC; likely involved in disease pathogenesis; shows an increase in lipid kinase activity; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.R38H(10)|p.R38L(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GAATGCCTCCGTGAGGCTACA	0.393		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		12	Substitution - Missense(12)	p.R38H(18)|p.R38L(3)|p.R38C(2)|p.R38S(1)|p.R38G(1)	endometrium(7)|large_intestine(3)|lung(2)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(112-114)cGt>cAt		Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.							76.0	74.0	75.0					3																	178916726		1838	4082	5920	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916726G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.113G>A	3.37:g.178916726G>A	ENSP00000263967:p.Arg38His	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.R38H	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		1	270	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		38		R -> H (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).	PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.113G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.755529	0.89843	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.73681	-0.77;-0.77	5.44	5.44	0.79542	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.84875	0.5569	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.83898	0.0288	9	.	.	.	-9.214	19.2635	0.93977	0.0:0.0:1.0:0.0	.	38	P42336	PK3CA_HUMAN	H	38	ENSP00000263967:R38H;ENSP00000417479:R38H	.	R	+	2	0	PIK3CA	180399420	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.409000	0.97331	2.547000	0.85894	0.555000	0.69702	CGT		0.393	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
CLOCK	9575	broad.mit.edu	37	4	56336954	56336954	+	Frame_Shift_Del	DEL	A	A	-			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr4:56336954delA	ENST00000309964.4	-	7	618	c.368delT	c.(367-369)ttafs	p.L123fs	CLOCK_ENST00000513440.1_Frame_Shift_Del_p.L123fs|CLOCK_ENST00000381322.1_Frame_Shift_Del_p.L123fs	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	123	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.L123fs*1(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			CATGATTGCTAAAAAAAAACC	0.289																																						uc003haz.1																			2	Deletion - Frameshift(2)	p.L123fs*1(4)	ovary(1)|lung(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(367-369)ttafs		Homo sapiens clock homolog (mouse) (CLOCK), mRNA.							88.0	93.0	92.0					4																	56336954		2201	4298	6499	SO:0001589	frameshift_variant	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56336954delA	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.368delT	4.37:g.56336954delA	ENSP00000308741:p.Leu123fs					CLOCK_uc003hba.1_Frame_Shift_Del_p.L123fs	p.L123fs	NM_004898	NP_004889	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		8	1294	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		123			PAS 1.		A0AV01|A2I2N9|O14516|Q9UIT8	Frame_Shift_Del	DEL	ENST00000309964.4	37	c.368delT	CCDS3500.1																																																																																				0.289	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898	
PF4V1	5197	broad.mit.edu	37	4	74719597	74719597	+	Silent	SNP	C	C	T	rs147144357		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr4:74719597C>T	ENST00000226524.3	+	2	372	c.198C>T	c.(196-198)gcC>gcT	p.A66A		NM_002620.2	NP_002611.1	P10720	PF4V_HUMAN	platelet factor 4 variant 1	66					cell chemotaxis (GO:0060326)|immune response (GO:0006955)	extracellular space (GO:0005615)	heparin binding (GO:0008201)			endometrium(1)|liver(2)	3	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TGATCAAGGCCGGACCCCACT	0.612																																						uc003hhg.1																			0		p.A66G(2)		endometrium(1)|liver(2)	3						c.(196-198)gcC>gcT		Homo sapiens platelet factor 4 variant 1 (PF4V1), mRNA.		C		0,4404		0,0,2202	59.0	65.0	63.0		198	-8.2	0.0	4	dbSNP_134	63	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PF4V1	NM_002620.2		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		66/105	74719597	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	5197				immune response	extracellular region	chemokine activity|heparin binding	g.chr4:74719597C>T	M26167	CCDS3561.1	4q12-q21	2008-08-15			ENSG00000109272	ENSG00000109272			8862	protein-coding gene	gene with protein product		173461				2725510	Standard	NM_002620		Approved	SCYB4V1, CXCL4V1, CXCL4L1	uc003hhg.1	P10720	OTTHUMG00000130177	ENST00000226524.3:c.198C>T	4.37:g.74719597C>T							p.A66A	NM_002620	NP_002611	P10720	PF4V_HUMAN	all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		1	265	+	Breast(15;0.00102)		66					A1L4S0	Silent	SNP	ENST00000226524.3	37	c.198C>T	CCDS3561.1																																																																																				0.612	PF4V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252495.1		
TACR3	6870	broad.mit.edu	37	4	104579420	104579420	+	Missense_Mutation	SNP	C	C	T	rs368975103		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr4:104579420C>T	ENST00000304883.2	-	2	829	c.689G>A	c.(688-690)cGt>cAt	p.R230H		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	230					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GCAGAGAGTACGGCCTGGCAT	0.393																																						uc003hxe.1																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(688-690)cGt>cAt		Homo sapiens tachykinin receptor 3 (TACR3), mRNA.		C	HIS/ARG	0,4406		0,0,2203	136.0	127.0	130.0		689	6.1	1.0	4		130	1,8599	1.2+/-3.3	0,1,4299	no	missense	TACR3	NM_001059.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	230/466	104579420	1,13005	2203	4300	6503	SO:0001583	missense	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104579420C>T	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.689G>A	4.37:g.104579420C>T	ENSP00000303325:p.Arg230His						p.R230H	NM_001059	NP_001050	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	1	830	-		Hepatocellular(203;0.217)	230					Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	c.689G>A	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005724	0.74932	0.0	1.16E-4	ENSG00000169836	ENST00000304883	T	0.33654	1.4	6.07	6.07	0.98685	GPCR, rhodopsin-like superfamily (1);	0.047037	0.85682	D	0.000000	T	0.60405	0.2266	M	0.67953	2.075	0.52099	D	0.999941	D	0.89917	1.0	D	0.68192	0.956	T	0.57171	-0.7857	10	0.54805	T	0.06	.	19.6475	0.95784	0.0:1.0:0.0:0.0	.	230	P29371	NK3R_HUMAN	H	230	ENSP00000303325:R230H	ENSP00000303325:R230H	R	-	2	0	TACR3	104798869	1.000000	0.71417	0.988000	0.46212	0.553000	0.35397	5.166000	0.64965	2.885000	0.99019	0.655000	0.94253	CGT		0.393	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059	
ZNF827	152485	broad.mit.edu	37	4	146697085	146697085	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr4:146697085C>T	ENST00000508784.1	-	10	2776	c.2549G>A	c.(2548-2550)tGc>tAc	p.C850Y	ZNF827_ENST00000379448.4_Missense_Mutation_p.C850Y|ZNF827_ENST00000513320.1_Missense_Mutation_p.C500Y			Q17R98	ZN827_HUMAN	zinc finger protein 827	850					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					AGCATAGGGGCACAAGTGGCA	0.498																																						uc003ikn.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2548-2550)tGc>tAc		Homo sapiens zinc finger protein 827 (ZNF827), mRNA.							134.0	115.0	121.0					4																	146697085		2203	4300	6503	SO:0001583	missense	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146697085C>T	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.2549G>A	4.37:g.146697085C>T	ENSP00000421863:p.Cys850Tyr					ZNF827_uc003ikm.3_Missense_Mutation_p.C850Y|ZNF827_uc010iox.3_Missense_Mutation_p.C500Y|ZNF827_uc003ikl.3_5'UTR	p.C850Y	NM_178835	NP_849157	Q17R98	ZN827_HUMAN			9	2597	-	all_hematologic(180;0.151)		850					B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	ENST00000508784.1	37	c.2549G>A		.	.	.	.	.	.	.	.	.	.	C	27.9	4.873735	0.91664	.	.	ENSG00000151612	ENST00000508784;ENST00000513320;ENST00000379448;ENST00000281318;ENST00000440280	T;T;T	0.58652	0.32;0.32;0.32	6.03	6.03	0.97812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.82199	0.4985	M	0.89785	3.06	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.996;0.998;0.996	D	0.84405	0.0562	10	0.87932	D	0	-13.2941	20.5568	0.99304	0.0:1.0:0.0:0.0	.	500;850;850	G5E9Z1;Q17R98;Q17R98-2	.;ZN827_HUMAN;.	Y	850;500;850;849;500	ENSP00000421863:C850Y;ENSP00000423130:C500Y;ENSP00000368761:C850Y	ENSP00000281318:C849Y	C	-	2	0	ZNF827	146916535	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.388000	0.79795	2.861000	0.98227	0.655000	0.94253	TGC		0.498	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835	
TENM3	55714	broad.mit.edu	37	4	183651467	183651467	+	Silent	SNP	C	C	T	rs529748049		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr4:183651467C>T	ENST00000511685.1	+	15	2823	c.2700C>T	c.(2698-2700)gaC>gaT	p.D900D	TENM3_ENST00000406950.2_Silent_p.D900D|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	900					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CCCGCCAGGACGGAATGTGAG	0.398																																						uc003ivd.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129						c.(2698-2700)gaC>gaT		Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.							104.0	96.0	99.0					4																	183651467		1865	4089	5954	SO:0001819	synonymous_variant	55714				signal transduction	integral to membrane		g.chr4:183651467C>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.2700C>T	4.37:g.183651467C>T						ODZ3_uc003ive.1_Silent_p.D306D	p.D900D	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	13	2775	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	900					Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	c.2700C>T	CCDS47165.1																																																																																				0.398	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1		
FCHO2	115548	broad.mit.edu	37	5	72383422	72383422	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr5:72383422G>A	ENST00000430046.2	+	25	2368	c.2252G>A	c.(2251-2253)gGg>gAg	p.G751E	FCHO2_ENST00000341845.6_Missense_Mutation_p.G751E|FCHO2_ENST00000512348.1_Missense_Mutation_p.G718E	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	751	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.|Mediates interaction with DAB2, EPS15, EPS15R and ITSN1.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		GTAGGTTCTGGGTCCCTCCGA	0.398																																						uc003kcl.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17						c.(2251-2253)gGg>gAg		Homo sapiens FCH domain only 2 (FCHO2), transcript variant 1, mRNA.							80.0	75.0	77.0					5																	72383422		1823	4080	5903	SO:0001583	missense	115548							g.chr5:72383422G>A	AL831971	CCDS47230.1, CCDS54868.1	5q13.2	2005-08-15			ENSG00000157107	ENSG00000157107			25180	protein-coding gene	gene with protein product		613438				15254787	Standard	NM_138782		Approved		uc003kcl.3	Q0JRZ9	OTTHUMG00000162413	ENST00000430046.2:c.2252G>A	5.37:g.72383422G>A	ENSP00000393776:p.Gly751Glu					FCHO2_uc011csl.2_Missense_Mutation_p.G718E|FCHO2_uc010izb.3_Missense_Mutation_p.G179E|FCHO2_uc011csn.2_Missense_Mutation_p.G179E	p.G751E	NM_138782	NP_620137	Q0JRZ9	FCHO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)	24	2368	+		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)	751					A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Missense_Mutation	SNP	ENST00000430046.2	37	c.2252G>A	CCDS47230.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467288	0.84533	.	.	ENSG00000157107	ENST00000430046;ENST00000341845;ENST00000512348	T;T;T	0.42131	0.98;0.98;0.98	4.67	4.67	0.58626	Muniscin C-terminal mu homology domain (1);	0.000000	0.85682	D	0.000000	T	0.69333	0.3099	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.993;0.997	T	0.75608	-0.3259	10	0.87932	D	0	-11.583	18.1271	0.89589	0.0:0.0:1.0:0.0	.	718;751	E9PG79;Q0JRZ9	.;FCHO2_HUMAN	E	751;751;718	ENSP00000393776:G751E;ENSP00000344034:G751E;ENSP00000427296:G718E	ENSP00000344034:G751E	G	+	2	0	FCHO2	72419178	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	9.203000	0.95033	2.573000	0.86826	0.650000	0.86243	GGG		0.398	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368795.3	XM_291142	
GABRA6	2559	broad.mit.edu	37	5	161119060	161119060	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr5:161119060G>A	ENST00000274545.5	+	8	1373	c.940G>A	c.(940-942)Gtc>Atc	p.V314I	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Missense_Mutation_p.V304I			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	314					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.V314I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CTTTGCATTCGTCTTCTCTGC	0.478										TCGA Ovarian(5;0.080)																												uc003lyu.2																			1	Substitution - Missense(1)	p.V314I(2)	ovary(1)	breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(940-942)Gtc>Atc		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						176.0	146.0	156.0					5																	161119060		2203	4300	6503	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161119060G>A		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.940G>A	5.37:g.161119060G>A	ENSP00000274545:p.Val314Ile	TCGA Ovarian(5;0.080)				GABRA6_uc003lyv.2_Missense_Mutation_p.V85I	p.V314I	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		7	1278	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	314					A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.940G>A	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	G	31	5.062912	0.93898	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	D;D	0.88354	-2.37;-2.37	5.32	5.32	0.75619	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.93798	0.8017	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94268	0.7508	10	0.87932	D	0	.	18.9984	0.92822	0.0:0.0:1.0:0.0	.	314	Q16445	GBRA6_HUMAN	I	314;304	ENSP00000274545:V314I;ENSP00000430527:V304I	ENSP00000274545:V314I	V	+	1	0	GABRA6	161051638	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	9.751000	0.98889	2.468000	0.83385	0.650000	0.86243	GTC		0.478	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2		
LRRC16A	55604	broad.mit.edu	37	6	25450163	25450163	+	Missense_Mutation	SNP	C	C	T	rs199969829		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr6:25450163C>T	ENST00000329474.6	+	6	777	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	LRRC16A_ENST00000377969.3_5'UTR	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	137					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GCCATCTGAGCGCCTGGCTAG	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		16435	0.0		0.0	False		,,,				2504	0.001					uc011djw.2																			0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(409-411)Cgc>Tgc		Homo sapiens leucine rich repeat containing 16A (LRRC16A), transcript variant 1, mRNA.							48.0	50.0	49.0					6																	25450163		1846	4086	5932	SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25450163C>T	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.409C>T	6.37:g.25450163C>T	ENSP00000331983:p.Arg137Cys					LRRC16A_uc010jpy.3_Missense_Mutation_p.R137C|LRRC16A_uc003nez.1_5'Flank	p.R137C	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN			5	777	+			137					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.409C>T	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021304	0.75275	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.21734	1.99	5.65	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.40067	0.1102	M	0.76838	2.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.13710	-1.0499	10	0.52906	T	0.07	.	15.3826	0.74673	0.2163:0.7837:0.0:0.0	.	137;137;137	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	C	137	ENSP00000331983:R137C	ENSP00000331983:R137C	R	+	1	0	LRRC16A	25558142	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.281000	0.33214	2.824000	0.97209	0.655000	0.94253	CGC		0.468	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640	
ABCF1	23	broad.mit.edu	37	6	30548286	30548286	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr6:30548286A>G	ENST00000326195.8	+	8	780	c.668A>G	c.(667-669)aAg>aGg	p.K223R	ABCF1_ENST00000376545.3_Missense_Mutation_p.K223R|ABCF1_ENST00000396515.4_Intron	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	223	Glu-rich.				inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						AAGGCCAAGAAGGCAGAGCAG	0.453																																						uc003nql.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						c.(667-669)aAg>aGg		Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 1 (ABCF1), transcript variant 1, mRNA.							32.0	26.0	28.0					6																	30548286		1509	2707	4216	SO:0001583	missense	23				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding	g.chr6:30548286A>G	AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.668A>G	6.37:g.30548286A>G	ENSP00000313603:p.Lys223Arg					ABCF1_uc003nqk.2_Missense_Mutation_p.K224R|ABCF1_uc003nqm.3_Missense_Mutation_p.K223R	p.K223R	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN			7	763	+			223			Glu-rich.		A2BF75|O14897|Q69YP6	Missense_Mutation	SNP	ENST00000326195.8	37	c.668A>G	CCDS34380.1	.	.	.	.	.	.	.	.	.	.	A	12.76	2.033145	0.35893	.	.	ENSG00000204574	ENST00000326195;ENST00000376545;ENST00000455943;ENST00000441867	T;T;T	0.54675	1.55;0.56;0.74	5.0	5.0	0.66597	.	1.011660	0.07901	N	0.972682	T	0.21227	0.0511	N	0.14661	0.345	0.80722	D	1	B;B;B	0.18610	0.01;0.01;0.029	B;B;B	0.17098	0.01;0.01;0.017	T	0.03761	-1.1006	10	0.32370	T	0.25	-21.854	11.0918	0.48121	1.0:0.0:0.0:0.0	.	223;223;223	Q2L6I2;Q8NE71;A2BF75	.;ABCF1_HUMAN;.	R	223;223;224;224	ENSP00000313603:K223R;ENSP00000365728:K223R;ENSP00000405512:K224R	ENSP00000313603:K223R	K	+	2	0	ABCF1	30656265	0.741000	0.28217	0.955000	0.39395	0.654000	0.38779	1.200000	0.32247	1.878000	0.54408	0.383000	0.25322	AAG		0.453	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3		
CYP21A1P	1590	broad.mit.edu	37	6	31973481	31973483	+	IGR	DEL	CTG	CTG	-	rs372987663		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr6:31973481_31973483delCTG	ENST00000594256.1	-	0	69				CYP21A1P_ENST00000342991.6_RNA|C4A-AS1_ENST00000458633.1_RNA																							gctcctgggcctgctgctgctgc	0.66																																						uc021yvd.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						c.(16-18)ctgdel		Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA.				59,3537		5,49,1744						0.7	0.9			4	127,6723		15,97,3313	no	intergenic				20,146,5057	A1A1,A1R,RR		1.854,1.6407,1.7806				186,10260				SO:0001628	intergenic_variant	1589				glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding	g.chr6:31973481_31973483delCTG																													6.37:g.31973490_31973492delCTG						CYP21A1P_uc021yve.1_5'UTR	p.L10del			P08686	CP21A_HUMAN			0	123_125	+			9						In_Frame_Del	DEL	ENST00000594256.1	37	c.16_18delCTG																																																																																					0.660	AL645922.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding			
ZDHHC4	55146	broad.mit.edu	37	7	6628405	6628405	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr7:6628405G>A	ENST00000396706.2	+	8	1342	c.899G>A	c.(898-900)cGt>cAt	p.R300H	ZDHHC4_ENST00000335965.6_Missense_Mutation_p.R300H|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396707.2_Missense_Mutation_p.R300H|ZDHHC4_ENST00000405731.3_Missense_Mutation_p.R300H|C7orf26_ENST00000344417.5_5'Flank|ZDHHC4_ENST00000396713.2_Missense_Mutation_p.R300H|ZDHHC4_ENST00000396709.1_Missense_Mutation_p.R300H|C7orf26_ENST00000359073.5_5'Flank			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	300						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.R300H(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		TGGTGCCAGCGTTGTCCCCTT	0.577																																						uc003sqi.3																			2	Substitution - Missense(2)	p.R300H(4)|p.Q299*(1)	upper_aerodigestive_tract(1)|prostate(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(898-900)cGt>cAt		Homo sapiens zinc finger, DHHC-type containing 4 (ZDHHC4), transcript variant 2, mRNA.							122.0	109.0	113.0					7																	6628405		2203	4300	6503	SO:0001583	missense	55146					integral to membrane	acyltransferase activity|zinc ion binding	g.chr7:6628405G>A	AF201931	CCDS5352.1	7p22.1	2011-01-11			ENSG00000136247	ENSG00000136247		"""Zinc fingers, DHHC-type"""	18471	protein-coding gene	gene with protein product							Standard	NM_018106		Approved	FLJ10479, ZNF374	uc003sqj.3	Q9NPG8	OTTHUMG00000023579	ENST00000396706.2:c.899G>A	7.37:g.6628405G>A	ENSP00000379934:p.Arg300His					ZDHHC4_uc003sql.3_Missense_Mutation_p.R300H|ZDHHC4_uc003sqj.3_Missense_Mutation_p.R300H|ZDHHC4_uc003sqh.3_Missense_Mutation_p.R300H|C7orf26_uc003sqo.1_5'Flank|C7orf26_uc003sqp.1_5'Flank	p.R300H	NM_001134388	NP_060576	Q9NPG8	ZDHC4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)	8	1257	+		Ovarian(82;0.232)	300					A4D2N9|Q53EV7|Q6FIB5|Q9H0R9	Missense_Mutation	SNP	ENST00000396706.2	37	c.899G>A	CCDS5352.1	.	.	.	.	.	.	.	.	.	.	G	6.659	0.490085	0.12702	.	.	ENSG00000136247	ENST00000405731;ENST00000396713;ENST00000396707;ENST00000335965;ENST00000396709;ENST00000396706	T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35	4.53	-8.02	0.01118	.	0.684599	0.14827	N	0.296085	T	0.07234	0.0183	N	0.02158	-0.66	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30357	-0.9981	10	0.02654	T	1	-20.1553	3.7761	0.08660	0.3325:0.1185:0.4324:0.1166	.	300	Q9NPG8	ZDHC4_HUMAN	H	300	ENSP00000385027:R300H;ENSP00000379941:R300H;ENSP00000379935:R300H;ENSP00000337475:R300H;ENSP00000379937:R300H;ENSP00000379934:R300H	ENSP00000337475:R300H	R	+	2	0	ZDHHC4	6594930	0.000000	0.05858	0.000000	0.03702	0.226000	0.24999	-0.511000	0.06321	-1.175000	0.02751	-1.099000	0.02127	CGT		0.577	ZDHHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207477.3	NM_018106	
PCLO	27445	broad.mit.edu	37	7	82583736	82583736	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr7:82583736G>T	ENST00000333891.9	-	5	6870	c.6533C>A	c.(6532-6534)cCc>cAc	p.P2178H	PCLO_ENST00000423517.2_Missense_Mutation_p.P2178H	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTGTCAGAGGGTGGGACAGA	0.428																																						uc003uhx.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(6532-6534)cCc>cAc		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							123.0	123.0	123.0					7																	82583736		1990	4161	6151	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82583736G>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.6533C>A	7.37:g.82583736G>T	ENSP00000334319:p.Pro2178His					PCLO_uc003uhv.2_Missense_Mutation_p.P2178H|PCLO_uc010lec.3_5'Flank	p.P2178H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			4	6822	-			2109						Missense_Mutation	SNP	ENST00000333891.9	37	c.6533C>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	8.967	0.971904	0.18736	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.18338	2.22;2.22	5.77	4.88	0.63580	.	.	.	.	.	T	0.26774	0.0655	L	0.44542	1.39	0.80722	D	1	D;D	0.65815	0.995;0.995	P;P	0.58873	0.847;0.847	T	0.00468	-1.1721	9	0.87932	D	0	.	9.1859	0.37170	0.0728:0.0:0.781:0.1462	.	2178;2178	Q9Y6V0-5;Q9Y6V0-6	.;.	H	2109;2178;2178	ENSP00000334319:P2178H;ENSP00000388393:P2178H	ENSP00000334319:P2178H	P	-	2	0	PCLO	82421672	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.115000	0.50391	2.724000	0.93272	0.650000	0.86243	CCC		0.428	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
MUC17	140453	broad.mit.edu	37	7	100684314	100684314	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr7:100684314C>G	ENST00000306151.4	+	3	9681	c.9617C>G	c.(9616-9618)aCt>aGt	p.T3206S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3206	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCATCTACAACTGCTGAAGGT	0.502																																						uc003uxp.1																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(9616-9618)aCt>aGt		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							286.0	289.0	288.0					7																	100684314		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684314C>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9617C>G	7.37:g.100684314C>G	ENSP00000302716:p.Thr3206Ser					MUC17_uc010lho.1_Non-coding_Transcript	p.T3206S	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			2	9670	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3206			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.9617C>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	8.907	0.957737	0.18507	.	.	ENSG00000169876	ENST00000306151	T	0.01838	4.61	1.33	0.393	0.16294	.	.	.	.	.	T	0.03390	0.0098	N	0.24115	0.695	0.09310	N	1	P	0.46578	0.88	P	0.62184	0.899	T	0.40478	-0.9561	9	0.09590	T	0.72	.	5.5857	0.17274	0.0:0.7936:0.0:0.2064	.	3206	Q685J3	MUC17_HUMAN	S	3206	ENSP00000302716:T3206S	ENSP00000302716:T3206S	T	+	2	0	MUC17	100471034	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	0.377000	0.20552	0.143000	0.18926	0.089000	0.15464	ACT		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
EZH2	2146	broad.mit.edu	37	7	148529726	148529726	+	Splice_Site	SNP	C	C	G			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr7:148529726C>G	ENST00000460911.1	-	4	451	c.363G>C	c.(361-363)atG>atC	p.M121I	EZH2_ENST00000483967.1_Splice_Site_p.M112I|EZH2_ENST00000476773.1_Splice_Site_p.M112I|EZH2_ENST00000536783.1_Splice_Site_p.M12I|EZH2_ENST00000541220.1_Splice_Site_p.M112I|EZH2_ENST00000350995.2_Intron|EZH2_ENST00000478654.1_Splice_Site_p.M112I|EZH2_ENST00000320356.2_Splice_Site_p.M121I			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	121	Interaction with DNMT1, DNMT3A and DNMT3B.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ATTTACATACCATAAAATTCT	0.313			Mis		DLBCL																																	uc003wfd.2				Rec?	yes		7	7q35-q36	2146	Mis	enhancer of zeste homolog 2			L			DLBCL		0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359						c.e4+1		Homo sapiens enhancer of zeste homolog 2 (Drosophila) (EZH2), transcript variant 3, mRNA.							76.0	85.0	82.0					7																	148529726		2203	4300	6503	SO:0001630	splice_region_variant	2146				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr7:148529726C>G		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.363+1G>C	7.37:g.148529726C>G						EZH2_uc022aov.1_Intron|EZH2_uc011kug.2_Splice_Site_p.M112_splice|EZH2_uc003wfb.2_Splice_Site_p.M121_splice|EZH2_uc003wfc.2_Intron|EZH2_uc011kuh.2_Splice_Site_p.M112_splice|EZH2_uc011kui.2_Splice_Site_p.M121_splice|EZH2_uc011kuj.2_Splice_Site	p.M121_splice	NM_001203247	NP_001190176	Q15910	EZH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00239)		4	556	-	Melanoma(164;0.15)		121			Interaction with DNMT1, DNMT3A and DNMT3B.		B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	ENST00000460911.1	37	c.363_splice	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.996933	0.93167	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000541220;ENST00000476773;ENST00000483967;ENST00000536783	D;D;D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.90745	0.7095	M	0.80183	2.485	0.80722	D	1	P;P;P;P;P	0.52463	0.584;0.565;0.953;0.945;0.813	B;P;P;P;P	0.59424	0.127;0.527;0.857;0.546;0.492	D	0.89898	0.4042	9	.	.	.	.	20.0627	0.97684	0.0:1.0:0.0:0.0	.	121;112;112;121;121	B7Z8K5;Q15910-4;Q15910-5;Q15910;Q15910-2	.;.;.;EZH2_HUMAN;.	I	112;121;121;112;112;112;12	ENSP00000417062:M112I;ENSP00000320147:M121I;ENSP00000419711:M121I;ENSP00000443219:M112I;ENSP00000419050:M112I;ENSP00000419856:M112I;ENSP00000439305:M12I	.	M	-	3	0	EZH2	148160659	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.577000	0.82486	2.807000	0.96579	0.591000	0.81541	ATG		0.313	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456	Missense_Mutation
TNFRSF10C	8794	broad.mit.edu	37	8	22972207	22972207	+	Silent	SNP	G	G	A	rs74480765	byFrequency	TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr8:22972207G>A	ENST00000356864.3	+	3	736	c.204G>A	c.(202-204)ccG>ccA	p.P68P	TNFRSF10C_ENST00000520607.1_3'UTR|TNFRSF10C_ENST00000540813.1_5'UTR	NM_003841.3	NP_003832	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	68					apoptotic process (GO:0006915)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CCTGTAACCCGTGCACAGAGG	0.468													G|||	9	0.00179712	0.0	0.0	5008	,	,		18515	0.001		0.008	False		,,,				2504	0.0					uc003xcy.3																			0				endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15						c.(202-204)ccG>ccA		Homo sapiens tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain (TNFRSF10C), mRNA.		G		2,4404	4.2+/-10.8	0,2,2201	194.0	170.0	178.0		204	-3.2	0.0	8	dbSNP_132	178	39,8561	26.3+/-74.7	0,39,4261	no	coding-synonymous	TNFRSF10C	NM_003841.3		0,41,6462	AA,AG,GG		0.4535,0.0454,0.3152		68/260	22972207	41,12965	2203	4300	6503	SO:0001819	synonymous_variant	8794				apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity	g.chr8:22972207G>A	AF012536	CCDS6037.1	8p22-p21	2006-02-22			ENSG00000173535	ENSG00000173535		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11906	protein-coding gene	gene with protein product		603613				9314565, 9325248	Standard	NM_003841		Approved	DcR1, TRAILR3, LIT, TRID, CD263	uc003xcy.3	O14798	OTTHUMG00000097844	ENST00000356864.3:c.204G>A	8.37:g.22972207G>A						TNFRSF10C_uc011kzr.2_Non-coding_Transcript	p.P68P	NM_003841	NP_003832	O14798	TR10C_HUMAN		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)	2	512	+		Prostate(55;0.0421)|Breast(100;0.067)	68					O14755|Q08AS6|Q6FH98|Q6UXM5	Silent	SNP	ENST00000356864.3	37	c.204G>A	CCDS6037.1																																																																																				0.468	TNFRSF10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215134.3		
SLCO5A1	81796	broad.mit.edu	37	8	70617355	70617355	+	Silent	SNP	A	A	G			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr8:70617355A>G	ENST00000260126.4	-	6	2239	c.1533T>C	c.(1531-1533)agT>agC	p.S511S	SLCO5A1_ENST00000524945.1_Silent_p.S511S|SLCO5A1_ENST00000530307.1_Silent_p.S456S	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	511						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			AAGACACACCACTGCAGATCA	0.408																																						uc003xyl.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1531-1533)agT>agC		Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.							118.0	113.0	115.0					8																	70617355		2203	4300	6503	SO:0001819	synonymous_variant	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70617355A>G	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.1533T>C	8.37:g.70617355A>G						SLCO5A1_uc010lzb.3_Silent_p.S456S|SLCO5A1_uc011lfa.2_Intron|SLCO5A1_uc003xyk.3_Silent_p.S511S|SLCO5A1_uc010lzc.2_Silent_p.S456S	p.S511S	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		5	2240	-	Breast(64;0.0654)		511					A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Silent	SNP	ENST00000260126.4	37	c.1533T>C	CCDS6205.1																																																																																				0.408	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958	
RIMS2	9699	broad.mit.edu	37	8	104897848	104897848	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr8:104897848C>T	ENST00000436393.2	+	2	596	c.355C>T	c.(355-357)Cgt>Tgt	p.R119C	RIMS2_ENST00000406091.3_Missense_Mutation_p.R341C|RIMS2_ENST00000507740.1_Missense_Mutation_p.R149C|RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000262231.10_Missense_Mutation_p.R149C			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	372	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GAATTTGGCCCGTTATCCAGT	0.473										HNSCC(12;0.0054)																												uc003yls.3																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(355-357)Cgt>Tgt		Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.							89.0	88.0	88.0					8																	104897848		2007	4179	6186	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104897848C>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.355C>T	8.37:g.104897848C>T	ENSP00000390665:p.Arg119Cys	HNSCC(12;0.0054)				RIMS2_uc003ylp.3_Missense_Mutation_p.R341C|RIMS2_uc003ylw.2_Missense_Mutation_p.R149C|RIMS2_uc003ylq.3_Missense_Mutation_p.R149C|RIMS2_uc003ylr.3_Missense_Mutation_p.R149C	p.R119C	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		1	596	+			372			RabBD.		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.355C>T		.	.	.	.	.	.	.	.	.	.	C	21.2	4.119369	0.77323	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.32	5.32	0.75619	.	.	.	.	.	T	0.61400	0.2344	M	0.64170	1.965	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.996;0.999;0.999;0.999	T	0.64067	-0.6494	9	0.87932	D	0	.	13.8993	0.63792	0.1523:0.8476:0.0:0.0	.	372;119;149;149;341	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	C	341;372;341;372;149;149;149;149;119	ENSP00000427018:R341C;ENSP00000384892:R341C;ENSP00000425205:R149C;ENSP00000262231:R149C;ENSP00000423559:R149C;ENSP00000386228:R149C;ENSP00000390665:R119C	ENSP00000262231:R149C	R	+	1	0	RIMS2	104967024	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.742000	0.68646	2.479000	0.83701	0.467000	0.42956	CGT		0.473	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117	
CNTLN	54875	broad.mit.edu	37	9	17330744	17330744	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr9:17330744A>G	ENST00000380647.3	+	9	1540	c.1456A>G	c.(1456-1458)Ata>Gta	p.I486V	CNTLN_ENST00000425824.1_Missense_Mutation_p.I486V|CNTLN_ENST00000262360.5_Missense_Mutation_p.I486V			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	486					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GTCAGAAAACATATCTGCCAA	0.368																																						uc003zmz.2																			0				breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(1456-1458)Ata>Gta		Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA.							129.0	123.0	125.0					9																	17330744		1842	4085	5927	SO:0001583	missense	54875					centriole|membrane	two-component sensor activity	g.chr9:17330744A>G	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.1456A>G	9.37:g.17330744A>G	ENSP00000370021:p.Ile486Val					CNTLN_uc003zmy.3_Missense_Mutation_p.I486V|CNTLN_uc010mio.3_Missense_Mutation_p.I165V	p.I486V	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	8	1482	+			486					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	c.1456A>G	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	A	5.343	0.248514	0.10130	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.36878	1.23;1.23;1.23	5.0	1.2	0.21068	.	.	.	.	.	T	0.15825	0.0381	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.26815	-1.0092	9	0.22109	T	0.4	.	5.1234	0.14871	0.6478:0.0:0.2267:0.1254	.	486;486;486	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	V	486	ENSP00000370021:I486V;ENSP00000392798:I486V;ENSP00000262360:I486V	ENSP00000262360:I486V	I	+	1	0	CNTLN	17320744	0.003000	0.15002	0.022000	0.16811	0.031000	0.12232	1.318000	0.33643	0.282000	0.22254	-1.385000	0.01166	ATA		0.368	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738	
FBXO10	26267	broad.mit.edu	37	9	37515999	37515999	+	Silent	SNP	G	G	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr9:37515999G>T	ENST00000432825.2	-	10	2646	c.2598C>A	c.(2596-2598)atC>atA	p.I866I	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Silent_p.I391I	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	866					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		CCTGGAAGATGATGTTTTCCT	0.522																																						uc004aac.3																			0				breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(2644-2646)atC>atA		Homo sapiens F-box protein 10 (FBXO10), mRNA.							236.0	207.0	216.0					9																	37515999		1950	4150	6100	SO:0001819	synonymous_variant	26267					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr9:37515999G>T	AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"""F-boxes /  ""other"""""	13589	protein-coding gene	gene with protein product		609092	"""F-box only protein 10"""			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.2598C>A	9.37:g.37515999G>T						FBXO10_uc004aab.3_Silent_p.I866I|FBXO10_uc004aad.3_Silent_p.I416I	p.I882I	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN		GBM - Glioblastoma multiforme(29;0.0107)	9	2726	-			866					Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Silent	SNP	ENST00000432825.2	37	c.2646C>A	CCDS47966.1																																																																																				0.522	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3		
TMC1	117531	broad.mit.edu	37	9	75435855	75435855	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr9:75435855G>A	ENST00000297784.5	+	20	2401	c.1861G>A	c.(1861-1863)Gtt>Att	p.V621I	TMC1_ENST00000396237.3_Missense_Mutation_p.V621I|TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000340019.3_Missense_Mutation_p.V621I	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	621					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						GTGCTGCAATGTTCCTGAGGC	0.502																																					Pancreas(75;173 1345 14232 34245 43413)	uc004aiz.1																			0		p.N620S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(1861-1863)Gtt>Att		Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.							202.0	174.0	184.0					9																	75435855		2203	4300	6503	SO:0001583	missense	117531				sensory perception of sound	integral to membrane		g.chr9:75435855G>A	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"""transmembrane, cochlear expressed, 1"""	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.1861G>A	9.37:g.75435855G>A	ENSP00000297784:p.Val621Ile					TMC1_uc010moz.1_Missense_Mutation_p.V579I|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Missense_Mutation_p.V475I|TMC1_uc010mpa.1_Missense_Mutation_p.V475I	p.V621I	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN			19	2401	+			621					A8MVZ2|B1AM91	Missense_Mutation	SNP	ENST00000297784.5	37	c.1861G>A	CCDS6643.1	.	.	.	.	.	.	.	.	.	.	G	31	5.079766	0.94050	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000396235;ENST00000537917;ENST00000542143;ENST00000396237	T;T;T	0.64085	-0.08;-0.08;-0.08	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000001	T	0.75376	0.3841	L	0.48362	1.52	0.54753	D	0.999989	D;D;D	0.76494	0.996;0.996;0.999	D;D;D	0.91635	0.998;0.998;0.999	T	0.71337	-0.4623	10	0.38643	T	0.18	-25.4214	20.2406	0.98372	0.0:0.0:1.0:0.0	.	588;588;621	A5D8Y1;A4FUA6;Q8TDI8	.;.;TMC1_HUMAN	I	621;621;588;588;615;621	ENSP00000297784:V621I;ENSP00000341433:V621I;ENSP00000379538:V621I	ENSP00000297784:V621I	V	+	1	0	TMC1	74625675	1.000000	0.71417	0.987000	0.45799	0.863000	0.49368	9.813000	0.99286	2.857000	0.98124	0.650000	0.86243	GTT		0.502	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1		
ASTN2	23245	broad.mit.edu	37	9	119770488	119770488	+	Silent	SNP	A	A	G			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr9:119770488A>G	ENST00000313400.4	-	7	1574	c.1474T>C	c.(1474-1476)Tta>Cta	p.L492L	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Silent_p.L441L|ASTN2_ENST00000373996.3_Silent_p.L492L			O75129	ASTN2_HUMAN	astrotactin 2	492					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GCCGGGTTTAACCAGTCGGAG	0.512																																						uc004bjt.2																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(1321-1323)Tta>Cta		Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.							117.0	100.0	105.0					9																	119770488		2203	4300	6503	SO:0001819	synonymous_variant	23245					integral to membrane		g.chr9:119770488A>G	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1474T>C	9.37:g.119770488A>G						ASTN2_uc022bml.1_Silent_p.L141L|ASTN2_uc022bmm.1_Silent_p.L141L	p.L441L	NM_014010	NP_054729	O75129	ASTN2_HUMAN			5	1422	-			492					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	ENST00000313400.4	37	c.1321T>C																																																																																					0.512	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010	
GPSM1	26086	broad.mit.edu	37	9	139250804	139250804	+	Silent	SNP	G	G	A	rs79557901	byFrequency	TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr9:139250804G>A	ENST00000440944.1	+	13	1843	c.1623G>A	c.(1621-1623)tcG>tcA	p.S541S	GPSM1_ENST00000392944.1_Silent_p.S32S|GPSM1_ENST00000429455.1_Silent_p.S32S	NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	541					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GDP-dissociation inhibitor activity (GO:0005092)			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		CCCAGCCCTCGATGACGGCCT	0.716													G|||	22	0.00439297	0.0	0.0	5008	,	,		13433	0.0109		0.008	False		,,,				2504	0.0031					uc004chd.2																			0				biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(1621-1623)tcG>tcA		Homo sapiens G-protein signaling modulator 1 (GPSM1), transcript variant 1, mRNA.		G	,,	2,4332		0,2,2165	10.0	13.0	12.0		1623,96,96	-6.3	0.0	9	dbSNP_131	12	51,8471		0,51,4210	yes	coding-synonymous,coding-synonymous,coding-synonymous	GPSM1	NM_001145638.1,NM_001145639.1,NM_001200003.1	,,	0,53,6375	AA,AG,GG		0.5985,0.0461,0.4123	,,	541/676,32/167,32/167	139250804	53,12803	2167	4261	6428	SO:0001819	synonymous_variant	26086				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity	g.chr9:139250804G>A	AI272212	CCDS6996.2, CCDS48055.1, CCDS48056.1	9q34.3	2013-01-10	2010-06-24		ENSG00000160360	ENSG00000160360		"""Tetratricopeptide (TTC) repeat domain containing"""	17858	protein-coding gene	gene with protein product	"""AGS3 homolog (C. elegans)"""	609491	"""G-protein signalling modulator 1 (AGS3-like, C. elegans)"""			11278352, 10969064	Standard	NM_001145639		Approved	AGS3, DKFZP727I051	uc004chd.2	Q86YR5	OTTHUMG00000020930	ENST00000440944.1:c.1623G>A	9.37:g.139250804G>A						GPSM1_uc011mdu.1_Silent_p.S32S|GPSM1_uc022bpn.1_Silent_p.S32S|GPSM1_uc004che.2_Silent_p.S32S	p.S541S	NM_001145638	NP_001139110	Q86YR5	GPSM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)	12	1843	+		Myeloproliferative disorder(178;0.0821)	541					A9Z1X4|B1B0W3|Q86SR5|Q969T1|Q9UFS8	Silent	SNP	ENST00000440944.1	37	c.1623G>A	CCDS48055.1																																																																																				0.716	GPSM1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015597	
MSL3	10943	broad.mit.edu	37	X	11790368	11790371	+	Frame_Shift_Del	DEL	TTGT	TTGT	-			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chrX:11790368_11790371delTTGT	ENST00000312196.4	+	11	1480_1483	c.1375_1378delTTGT	c.(1375-1380)ttgtttfs	p.LF459fs	MSL3_ENST00000380693.3_Frame_Shift_Del_p.LF293fs|MSL3_ENST00000398527.2_Frame_Shift_Del_p.LF447fs|MSL3_ENST00000361672.2_Frame_Shift_Del_p.LF310fs	NM_078629.3	NP_523353.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	459	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|multicellular organismal development (GO:0007275)|transcription from RNA polymerase II promoter (GO:0006366)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						TTTGCTGCGATTGTTTGGTAAGAA	0.451																																						uc004cuw.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						c.(1375-1380)ttgtttfs		Homo sapiens male-specific lethal 3 homolog (Drosophila) (MSL3), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	10943				histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity	g.chrX:11790368_11790371delTTGT	AF117065	CCDS14147.1, CCDS14148.1, CCDS14149.1, CCDS55369.1, CCDS65213.1	Xp22.3	2008-10-29	2008-10-29	2008-10-29	ENSG00000005302	ENSG00000005302			7370	protein-coding gene	gene with protein product		300609	"""male-specific lethal-3 (Drosophila)-like 1"", ""male-specific lethal 3-like 1 (Drosophila)"""	MSL3L1		10395802, 10908644	Standard	NM_078628		Approved		uc004cuw.3	Q8N5Y2	OTTHUMG00000021132	ENST00000312196.4:c.1375_1378delTTGT	X.37:g.11790368_11790371delTTGT	ENSP00000312244:p.Leu459fs					MSL3_uc011mig.2_Frame_Shift_Del_p.L310fs|MSL3_uc011mih.2_Frame_Shift_Del_p.L447fs|MSL3_uc004cuy.3_Frame_Shift_Del_p.L293fs	p.L459fs	NM_078629	NP_006791	Q8N5Y2	MS3L1_HUMAN			10	1480_1483	+			459					A6NCU2|A6NHW8|A8K165|B4DUV8|B7Z227|Q9UG70|Q9Y5Z8	Frame_Shift_Del	DEL	ENST00000312196.4	37	c.1375_1378delTTGT	CCDS14147.1																																																																																				0.451	MSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055757.1	NM_006800	
KCND1	3750	broad.mit.edu	37	X	48819889	48819889	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chrX:48819889C>T	ENST00000218176.3	-	6	3194	c.1897G>A	c.(1897-1899)Ggt>Agt	p.G633S	KCND1_ENST00000376477.1_Missense_Mutation_p.G256S	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	633					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24					Dalfampridine(DB06637)	CAAGGGGTACCCAGGCTGGAG	0.612																																						uc004dlx.1																			0				endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						c.(1897-1899)Ggt>Agt		Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 1 (KCND1), mRNA.							28.0	25.0	26.0					X																	48819889		2203	4300	6503	SO:0001583	missense	3750					voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity	g.chrX:48819889C>T	AF166003	CCDS14314.1	Xp11.23	2012-07-05			ENSG00000102057	ENSG00000102057		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6237	protein-coding gene	gene with protein product		300281				10729221, 16382104	Standard	NM_004979		Approved	Kv4.1	uc004dlx.1	Q9NSA2	OTTHUMG00000024127	ENST00000218176.3:c.1897G>A	X.37:g.48819889C>T	ENSP00000218176:p.Gly633Ser					KCND1_uc004dlw.1_Missense_Mutation_p.G256S	p.G633S	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN			5	3470	-			633					A6NEF1|B2RCG0|O75671	Missense_Mutation	SNP	ENST00000218176.3	37	c.1897G>A	CCDS14314.1	.	.	.	.	.	.	.	.	.	.	c	14.02	2.412012	0.42817	.	.	ENSG00000102057	ENST00000376477;ENST00000218176	D;D	0.95885	-3.36;-3.84	5.32	5.32	0.75619	.	0.527843	0.18532	N	0.138476	D	0.90031	0.6887	N	0.22421	0.69	0.27722	N	0.945101	B	0.12013	0.005	B	0.04013	0.001	T	0.80386	-0.1404	10	0.25751	T	0.34	.	10.634	0.45554	0.1911:0.8089:0.0:0.0	.	633	Q9NSA2	KCND1_HUMAN	S	256;633	ENSP00000365660:G256S;ENSP00000218176:G633S	ENSP00000218176:G633S	G	-	1	0	KCND1	48704833	0.891000	0.30450	0.842000	0.33263	0.832000	0.47134	1.710000	0.37920	2.220000	0.72140	0.431000	0.28591	GGT		0.612	KCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060774.1	NM_004979	
VSIG4	11326	broad.mit.edu	37	X	65242302	65242302	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chrX:65242302T>C	ENST00000374737.4	-	8	1111	c.1003A>G	c.(1003-1005)Agg>Ggg	p.R335G	VSIG4_ENST00000412866.2_Missense_Mutation_p.R241G|VSIG4_ENST00000455586.2_3'UTR	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	335					complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATGGCCACCCTCATGGTTTCT	0.567																																						uc004dwh.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1003-1005)Agg>Ggg		Homo sapiens V-set and immunoglobulin domain containing 4 (VSIG4), transcript variant 1, mRNA.							60.0	42.0	48.0					X																	65242302		2203	4300	6503	SO:0001583	missense	11326				complement activation, alternative pathway	integral to membrane	protein binding	g.chrX:65242302T>C	AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.1003A>G	X.37:g.65242302T>C	ENSP00000363869:p.Arg335Gly					VSIG4_uc004dwi.2_Missense_Mutation_p.R241G|VSIG4_uc004dwj.3_3'UTR|VSIG4_uc011moy.2_3'UTR	p.R335G	NM_007268	NP_009199	Q9Y279	VSIG4_HUMAN			7	1130	-			335					Q6UXI4	Missense_Mutation	SNP	ENST00000374737.4	37	c.1003A>G	CCDS14383.1	.	.	.	.	.	.	.	.	.	.	T	8.246	0.807985	0.16467	.	.	ENSG00000155659	ENST00000374737;ENST00000412866	T;T	0.39592	1.13;1.07	4.51	4.51	0.55191	.	0.137936	0.33075	N	0.005306	T	0.44705	0.1306	M	0.69823	2.125	0.36363	D	0.860831	P;P	0.44139	0.827;0.598	B;B	0.44044	0.439;0.188	T	0.57676	-0.7770	10	0.48119	T	0.1	-5.2728	9.2632	0.37625	0.0:0.0:0.0:1.0	.	241;335	Q9Y279-3;Q9Y279	.;VSIG4_HUMAN	G	335;241	ENSP00000363869:R335G;ENSP00000394143:R241G	ENSP00000363869:R335G	R	-	1	2	VSIG4	65159027	0.001000	0.12720	0.022000	0.16811	0.031000	0.12232	0.885000	0.28227	1.787000	0.52448	0.417000	0.27973	AGG		0.567	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1	NM_007268	
USP26	83844	broad.mit.edu	37	X	132161219	132161219	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chrX:132161219G>A	ENST00000511190.1	-	6	1499	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W	USP26_ENST00000370832.1_Missense_Mutation_p.R344W|USP26_ENST00000406273.1_Missense_Mutation_p.R344W	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	344	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					AAAAGTAGCCGTGCCAAGCAC	0.378																																					NSCLC(104;342 1621 36940 47097 52632)	uc011mvf.2																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60						c.(1030-1032)Cgg>Tgg		Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.							34.0	36.0	35.0					X																	132161219		2197	4288	6485	SO:0001583	missense	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132161219G>A	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.1030C>T	X.37:g.132161219G>A	ENSP00000423390:p.Arg344Trp					USP26_uc010nrm.1_Missense_Mutation_p.R344W	p.R344W	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN			0	1082	-	Acute lymphoblastic leukemia(192;0.000127)		344					B9WRT6|Q5H9H4	Missense_Mutation	SNP	ENST00000511190.1	37	c.1030C>T	CCDS14635.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.166360	0.38217	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.32023	1.47;1.47;1.47	3.71	2.85	0.33270	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.532585	0.13822	N	0.360341	T	0.37972	0.1023	L	0.38175	1.15	0.09310	N	1	D	0.61697	0.99	P	0.59595	0.86	T	0.09975	-1.0650	10	0.62326	D	0.03	-1.6362	8.7988	0.34896	0.1175:0.0:0.8825:0.0	.	344	Q9BXU7	UBP26_HUMAN	W	344	ENSP00000359869:R344W;ENSP00000423390:R344W;ENSP00000384360:R344W	ENSP00000359869:R344W	R	-	1	2	USP26	131988885	0.719000	0.27986	0.002000	0.10522	0.010000	0.07245	1.903000	0.39858	0.948000	0.37687	-0.381000	0.06696	CGG		0.378	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907	
AFF2	2334	broad.mit.edu	37	X	147924922	147924922	+	Silent	SNP	C	C	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chrX:147924922C>A	ENST00000370460.2	+	7	1706	c.1227C>A	c.(1225-1227)acC>acA	p.T409T	AFF2_ENST00000370458.1_Silent_p.T376T|AFF2_ENST00000370457.5_Silent_p.T376T|AFF2_ENST00000342251.3_Silent_p.T376T|AFF2_ENST00000286437.5_Silent_p.T50T	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	409					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ATGACCCAACCACCAGAGCTT	0.378																																						uc004fcp.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(1225-1227)acC>acA		Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.							141.0	120.0	127.0					X																	147924922		2203	4300	6503	SO:0001819	synonymous_variant	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147924922C>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1227C>A	X.37:g.147924922C>A						AFF2_uc004fco.3_Silent_p.T376T|AFF2_uc004fcq.3_Silent_p.T405T|AFF2_uc004fcr.3_Silent_p.T376T|AFF2_uc011mxb.2_Silent_p.T380T|AFF2_uc004fcs.3_Silent_p.T376T|AFF2_uc011mxc.2_Silent_p.T50T	p.T409T	NM_002025	NP_002016	P51816	AFF2_HUMAN			6	1706	+	Acute lymphoblastic leukemia(192;6.56e-05)		409					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	ENST00000370460.2	37	c.1227C>A	CCDS14684.1																																																																																				0.378	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025	
FLNA	2316	broad.mit.edu	37	X	153588445	153588445	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chrX:153588445C>T	ENST00000369850.3	-	22	3954	c.3718G>A	c.(3718-3720)Gtg>Atg	p.V1240M	FLNA_ENST00000369856.3_5'Flank|FLNA_ENST00000422373.1_Missense_Mutation_p.V1240M|FLNA_ENST00000344736.4_Missense_Mutation_p.V1240M|FLNA_ENST00000360319.4_Missense_Mutation_p.V1240M	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1240					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGTTGGGCACGGGCTGGCCG	0.627																																						uc004fkk.2																			0				breast(6)	6						c.(3718-3720)Gtg>Atg		Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.							31.0	36.0	34.0					X																	153588445		2034	4140	6174	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153588445C>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.3718G>A	X.37:g.153588445C>T	ENSP00000358866:p.Val1240Met					FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.V1240M	p.V1240M	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			21	3967	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1240					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.3718G>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.366645	0.61513	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.94457	-3.43;-3.43;-3.43;-3.42	4.93	4.93	0.64822	Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	D	0.97732	0.9256	H	0.94698	3.57	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74348	0.983;0.969	D	0.98457	1.0594	10	0.87932	D	0	.	11.8792	0.52564	0.0:0.9135:0.0:0.0865	.	1240;1240	P21333-2;P21333	.;FLNA_HUMAN	M	1240;1213;1240;1240;1240	ENSP00000353467:V1240M;ENSP00000416926:V1240M;ENSP00000358866:V1240M;ENSP00000358863:V1240M	ENSP00000358863:V1240M	V	-	1	0	FLNA	153241639	1.000000	0.71417	0.997000	0.53966	0.939000	0.58152	4.872000	0.63050	2.046000	0.60703	0.529000	0.55759	GTG		0.627	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3		
