#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
AMY2B	280	broad.mit.edu	37	1	104116388	104116388	+	Missense_Mutation	SNP	G	G	A	rs370144544		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr1:104116388G>A	ENST00000361355.4	+	6	1188	c.572G>A	c.(571-573)cGt>cAt	p.R191H	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	191					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GATTATGTGCGTTCCAAGATT	0.413																																						uc001duq.2																			0					0						c.(571-573)CGT>CAT		amylase, pancreatic, alpha-2B precursor		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	436.0	420.0	426.0		572	4.7	1.0	1		426	0,8600		0,0,4300	no	missense	AMY2B	NM_020978.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	191/512	104116388	1,13005	2203	4300	6503	SO:0001583	missense	280				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	g.chr1:104116388G>A	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.572G>A	1.37:g.104116388G>A	ENSP00000354610:p.Arg191His					AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.R191H|AMY2B_uc001dus.1_5'Flank	p.R191H	NM_020978	NP_066188	P19961	AMY2B_HUMAN		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)	6	1188	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	191					B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	ENST00000361355.4	37	c.572G>A	CCDS782.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.590904	0.66219	2.27E-4	0.0	ENSG00000240038	ENST00000361355	D	0.98550	-4.99	4.74	4.74	0.60224	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.051630	0.85682	D	0.000000	D	0.98024	0.9349	H	0.94886	3.595	0.80722	D	1	B	0.34264	0.446	B	0.34346	0.18	D	0.99941	1.1413	10	0.72032	D	0.01	.	17.7859	0.88538	0.0:0.0:1.0:0.0	.	191	P19961	AMY2B_HUMAN	H	191	ENSP00000354610:R191H	ENSP00000354610:R191H	R	+	2	0	AMY2B	103917911	1.000000	0.71417	0.954000	0.39281	0.573000	0.36030	7.803000	0.85983	2.204000	0.70986	0.644000	0.83932	CGT		0.413	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978	
TCHH	7062	broad.mit.edu	37	1	152080354	152080354	+	Missense_Mutation	SNP	C	C	T	rs199599922		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr1:152080354C>T	ENST00000368804.1	-	2	5338	c.5339G>A	c.(5338-5340)cGc>cAc	p.R1780H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1780	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCTCCTGGCGGAGCTGTTC	0.592																																						uc001ezp.2																			0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(5338-5340)CGC>CAC		trichohyalin							65.0	66.0	66.0					1																	152080354		1903	4116	6019	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152080354C>T	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.5339G>A	1.37:g.152080354C>T	ENSP00000357794:p.Arg1780His					TCHH_uc009wne.1_Missense_Mutation_p.R1780H	p.R1780H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	5339	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1780			23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.5339G>A	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	C	9.367	1.069565	0.20147	.	.	ENSG00000159450	ENST00000368804	T	0.11385	2.78	4.03	-3.57	0.04612	.	.	.	.	.	T	0.01940	0.0061	N	0.24115	0.695	0.09310	N	1	D	0.54047	0.964	P	0.44477	0.451	T	0.22138	-1.0225	9	0.51188	T	0.08	.	1.3741	0.02216	0.4511:0.2437:0.1213:0.1839	.	1780	Q07283	TRHY_HUMAN	H	1780	ENSP00000357794:R1780H	ENSP00000357794:R1780H	R	-	2	0	TCHH	150346978	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-1.302000	0.02746	-1.171000	0.02765	-1.564000	0.00881	CGC		0.592	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113	
REN	5972	broad.mit.edu	37	1	204135375	204135377	+	In_Frame_Del	DEL	AGC	AGC	-	rs142739309|rs121917743		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr1:204135375_204135377delAGC	ENST00000272190.8	-	1	73_75	c.45_47delGCT	c.(43-48)ctgctc>ctc	p.15_16LL>L	REN_ENST00000367195.2_In_Frame_Del_p.15_16LL>L	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	15			L -> R (in HNFJ2; affects ER translocation and processing of nascent preprorenin, resulting in abolished prorenin and renin biosynthesis and secretion). {ECO:0000269|PubMed:19664745}.		angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GGAGCCCCAGAGCAGCAGCAGCA	0.581																																						uc001haq.2																			0				skin(3)|central_nervous_system(1)	4						c.(43-48)CTGCTC>CTC		renin preproprotein	Aliskiren(DB01258)|Remikiren(DB00212)																																			SO:0001651	inframe_deletion	5972				angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity	g.chr1:204135375_204135377delAGC	BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.45_47delGCT	1.37:g.204135384_204135386delAGC	ENSP00000272190:p.Leu16del						p.15_16LL>L	NM_000537	NP_000528	P00797	RENI_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		1	89_91	-	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		15_16		L -> R (in HNFJ2; affects ER translocation and processing of nascent preprorenin, resulting in abolished prorenin and renin biosynthesis and secretion).			Q6FI38|Q6T5C2	In_Frame_Del	DEL	ENST00000272190.8	37	c.45_47delGCT	CCDS30981.1																																																																																				0.581	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087891.1	NM_000537	
ARID4B	51742	broad.mit.edu	37	1	235377267	235377269	+	In_Frame_Del	DEL	TCT	TCT	-	rs577765532	byFrequency	TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr1:235377267_235377269delTCT	ENST00000264183.3	-	17	2153_2155	c.1656_1658delAGA	c.(1654-1659)gaagag>gag	p.552_553EE>E	ARID4B_ENST00000366603.2_In_Frame_Del_p.552_553EE>E|ARID4B_ENST00000349213.3_Intron	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	552	Glu-rich.				histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			atcttcatcctcttcttcttctt	0.404														3	0.000599042	0.0008	0.0	5008	,	,		20262	0.001		0.0	False		,,,				2504	0.001					uc001hwq.2																			0				ovary(2)|lung(1)	3						c.(1654-1659)GAAGAG>GAG		AT rich interactive domain 4B isoform 1																																				SO:0001651	inframe_deletion	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235377267_235377269delTCT	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.1656_1658delAGA	1.37:g.235377276_235377278delTCT	ENSP00000264183:p.Glu553del					ARID4B_uc001hwr.2_Intron|ARID4B_uc001hws.3_Intron|ARID4B_uc001hwt.3_In_Frame_Del_p.233_234EE>E	p.552_553EE>E	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		17	2154_2156	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	552_553			Glu-rich.		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	In_Frame_Del	DEL	ENST00000264183.3	37	c.1656_1658delAGA	CCDS31061.1																																																																																				0.404	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374	
OR2L3	391192	broad.mit.edu	37	1	248224733	248224733	+	Nonsense_Mutation	SNP	C	C	A	rs376926882		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr1:248224733C>A	ENST00000359959.3	+	1	750	c.750C>A	c.(748-750)taC>taA	p.Y250*	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	250						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TAACTTTCTACTATGCACCTT	0.502																																						uc001idx.1																			0					0						c.(748-750)TAC>TAA		olfactory receptor, family 2, subfamily L,							136.0	128.0	130.0					1																	248224733		2203	4298	6501	SO:0001587	stop_gained	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224733C>A	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.750C>A	1.37:g.248224733C>A	ENSP00000353044:p.Tyr250*					OR2L13_uc001ids.2_Intron	p.Y250*	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	750	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		250			Helical; Name=6; (Potential).		B9EH44	Nonsense_Mutation	SNP	ENST00000359959.3	37	c.750C>A	CCDS31104.1	.	.	.	.	.	.	.	.	.	.	C	6.615	0.481935	0.12581	.	.	ENSG00000198128	ENST00000359959	.	.	.	2.01	1.05	0.20165	.	0.000000	0.29133	U	0.013060	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	8.1393	0.31073	0.0:0.8666:0.0:0.1334	.	.	.	.	X	250	.	ENSP00000353044:Y250X	Y	+	3	2	OR2L3	246291356	0.000000	0.05858	0.161000	0.22692	0.047000	0.14425	-1.506000	0.02271	0.181000	0.19994	0.456000	0.33151	TAC		0.502	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687	
PTEN	5728	broad.mit.edu	37	10	89717672	89717672	+	Nonsense_Mutation	SNP	C	C	T	rs121909219		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr10:89717672C>T	ENST00000371953.3	+	7	2054	c.697C>T	c.(697-699)Cga>Tga	p.R233*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	233	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.R233*(77)|p.0?(37)|p.R55fs*1(5)|p.R233fs*10(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R233fs*25(1)|p.R233fs*23(1)|p.R233R(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGGACCCACACGACGGGAAGA	0.423	R233*(HEC59_ENDOMETRIUM)|R233*(JHUEM1_ENDOMETRIUM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2	R233*(JHUEM1_ENDOMETRIUM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(HEC59_ENDOMETRIUM)	31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		133	Substitution - Nonsense(77)|Whole gene deletion(37)|Deletion - Frameshift(11)|Complex - frameshift(3)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)|Substitution - coding silent(1)	p.R233*(61)|p.R233fs*10(4)|p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R233fs*25(1)|p.R233fs*23(1)|p.R233R(1)|p.G165_K342del(1)	endometrium(48)|central_nervous_system(21)|prostate(17)|haematopoietic_and_lymphoid_tissue(10)|lung(9)|large_intestine(6)|skin(6)|ovary(5)|cervix(3)|soft_tissue(3)|breast(3)|urinary_tract(2)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	GRCh37	CM971277	PTEN	M	rs121909219	c.(697-699)CGA>TGA		phosphatase and tensin homolog							155.0	133.0	141.0					10																	89717672		2203	4300	6503	SO:0001587	stop_gained	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89717672C>T	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.697C>T	10.37:g.89717672C>T	ENSP00000361021:p.Arg233*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.R233*	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)	8	1728	+		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)	233			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.697C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	48	14.428311	0.99795	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.15	0.533	0.17121	.	0.063428	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.2458	14.4841	0.67603	0.5413:0.4587:0.0:0.0	.	.	.	.	X	233	.	.	R	+	1	2	PTEN	89707652	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	1.280000	0.33202	0.512000	0.28257	0.585000	0.79938	CGA		0.423	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
KIF20B	9585	broad.mit.edu	37	10	91498052	91498052	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr10:91498052C>A	ENST00000371728.3	+	20	3519	c.3454C>A	c.(3454-3456)Ctt>Att	p.L1152I	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000416354.1_Missense_Mutation_p.L1182I|KIF20B_ENST00000260753.4_Missense_Mutation_p.L1112I|KIF20B_ENST00000394289.2_Missense_Mutation_p.L1152I	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1152					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GCTTTCAGAACTTACACAAGG	0.343																																						uc001kgs.1																			0				ovary(1)|pancreas(1)|skin(1)	3						c.(3454-3456)CTT>ATT		M-phase phosphoprotein 1							70.0	78.0	75.0					10																	91498052		2202	4295	6497	SO:0001583	missense	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91498052C>A	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.3454C>A	10.37:g.91498052C>A	ENSP00000360793:p.Leu1152Ile					KIF20B_uc001kgr.1_Missense_Mutation_p.L1112I|KIF20B_uc001kgt.1_Missense_Mutation_p.L363I|KIF20B_uc009xtw.1_RNA	p.L1152I	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN			20	3526	+			1152					A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37	c.3454C>A		.	.	.	.	.	.	.	.	.	.	C	11.92	1.781624	0.31502	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.71698	-0.49;-0.5;-0.59;-0.51	5.82	4.73	0.59995	.	0.144593	0.32314	N	0.006266	T	0.76227	0.3958	M	0.62723	1.935	0.32754	N	0.50599	D;D	0.61697	0.982;0.99	P;P	0.57283	0.661;0.817	T	0.80647	-0.1289	10	0.48119	T	0.1	-10.4292	10.3924	0.44181	0.0:0.855:0.0:0.145	.	1152;1112	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	I	1112;1182;1152;1152	ENSP00000260753:L1112I;ENSP00000411545:L1182I;ENSP00000377830:L1152I;ENSP00000360793:L1152I	ENSP00000260753:L1112I	L	+	1	0	KIF20B	91488032	0.629000	0.27146	0.993000	0.49108	0.123000	0.20343	0.365000	0.20348	2.753000	0.94483	0.467000	0.42956	CTT		0.343	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195	
WDR11	55717	broad.mit.edu	37	10	122649467	122649467	+	Silent	SNP	T	T	C			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr10:122649467T>C	ENST00000263461.6	+	18	2535	c.2289T>C	c.(2287-2289)aaT>aaC	p.N763N	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GTAAAGGAAATCAAAAATTAA	0.383																																						uc010qtf.1																			0					0						c.(2287-2289)AAT>AAC		bromodomain and WD repeat domain containing 2							124.0	116.0	119.0					10																	122649467		2203	4300	6503	SO:0001819	synonymous_variant	55717					integral to membrane		g.chr10:122649467T>C	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.2289T>C	10.37:g.122649467T>C						WDR11_uc010qte.1_Silent_p.N365N|WDR11_uc001lfd.1_Silent_p.N281N|WDR11_uc009xzn.2_Silent_p.N54N	p.N763N	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN			18	2527	+			763			WD 7.		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	ENST00000263461.6	37	c.2289T>C	CCDS7619.1																																																																																				0.383	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2		
OR5D18	219438	broad.mit.edu	37	11	55587178	55587178	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr11:55587178C>G	ENST00000333976.4	+	1	93	c.73C>G	c.(73-75)Caa>Gaa	p.Q25E		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CCCAGAACTGCAAGTCCCACT	0.448																																						uc010rin.1																			0				skin(2)|ovary(1)	3						c.(73-75)CAA>GAA		olfactory receptor, family 5, subfamily D,							132.0	123.0	126.0					11																	55587178		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587178C>G	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.73C>G	11.37:g.55587178C>G	ENSP00000335025:p.Gln25Glu						p.Q25E	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			1	73	+		all_epithelial(135;0.208)	25			Extracellular (Potential).		Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.73C>G	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	12.79	2.042108	0.35989	.	.	ENSG00000186119	ENST00000333976	T	0.00593	6.34	5.18	4.2	0.49525	.	0.427868	0.17330	N	0.178141	T	0.00967	0.0032	L	0.58925	1.835	0.09310	N	1	B	0.10296	0.003	B	0.23018	0.043	T	0.39143	-0.9628	10	0.62326	D	0.03	4.0298	13.3098	0.60374	0.1993:0.8007:0.0:0.0	.	25	Q8NGL1	OR5DI_HUMAN	E	25	ENSP00000335025:Q25E	ENSP00000335025:Q25E	Q	+	1	0	OR5D18	55343754	.	.	0.062000	0.19696	0.937000	0.57800	.	.	1.175000	0.42826	0.632000	0.83419	CAA		0.448	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952	
PAK1	5058	broad.mit.edu	37	11	77069990	77069992	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr11:77069990_77069992delCAT	ENST00000356341.3	-	6	1079_1081	c.548_550delATG	c.(547-552)gatgct>gct	p.D183del	PAK1_ENST00000530617.1_In_Frame_Del_p.D183del|PAK1_ENST00000528203.1_In_Frame_Del_p.D85del|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000278568.4_In_Frame_Del_p.D183del	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	183	Interaction with CRIPAK.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGTGGGGTAGcatcatcatcatc	0.478																																						uc001oyh.3																			0				skin(2)|stomach(1)|lung(1)	4						c.(547-552)GATGCT>GCT		p21-activated kinase 1 isoform 2			,	392,0,3872		189,0,14,0,0,1929					,	3.9	1.0		dbSNP_134	110	824,25,7405		391,0,42,0,25,3669	no	codingComplex,codingComplex	PAK1	NM_002576.4,NM_001128620.1	,	580,0,56,0,25,5598	A1A1,A1A2,A1R,A2A2,A2R,RR		10.2859,9.1932,9.9137	,	,		1216,25,11277				SO:0001651	inframe_deletion	5058				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity	g.chr11:77069990_77069992delCAT	U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"""STE20 homolog, yeast"""	602590	"""p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)"", ""p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"""			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.548_550delATG	11.37:g.77069999_77070001delCAT	ENSP00000348696:p.Asp183del					PAK1_uc010rso.1_In_Frame_Del_p.D85del|PAK1_uc001oyg.3_In_Frame_Del_p.D183del|PAK1_uc001oyi.1_In_Frame_Del_p.D183del|PAK1_uc010rsn.1_5'UTR	p.D183del	NM_002576	NP_002567	Q13153	PAK1_HUMAN			6	1081_1083	-	all_cancers(14;1.75e-18)		183			Interaction with CRIPAK.		O75561|Q13567|Q32M53|Q32M54|Q86W79	In_Frame_Del	DEL	ENST00000356341.3	37	c.548_550delATG	CCDS8250.1																																																																																				0.478	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382083.2	NM_002576	
MAML2	84441	broad.mit.edu	37	11	95825767	95825767	+	Silent	SNP	C	C	T			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr11:95825767C>T	ENST00000524717.1	-	2	2712	c.1428G>A	c.(1426-1428)ggG>ggA	p.G476G		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	476					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TTTTCTCCTGCCCAAATGGAC	0.602			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																	uc001pfw.1				Dom	yes		11	11q22-q23	84441	T	mastermind-like 2 (Drosophila)			E	MECT1|CRTC3		salivary gland mucoepidermoid	CRTC1/MAML2(516)|CRTC3/MAML2(26)	0				salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546						c.(1426-1428)GGG>GGA		mastermind-like 2							48.0	51.0	50.0					11																	95825767		2103	4252	6355	SO:0001819	synonymous_variant	84441				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr11:95825767C>T	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1428G>A	11.37:g.95825767C>T							p.G476G	NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN			2	2713	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	476					A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	37	c.1428G>A	CCDS44714.1																																																																																				0.602	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1		
RB1	5925	broad.mit.edu	37	13	48919241	48919244	+	Frame_Shift_Del	DEL	AAAG	AAAG	-	rs121913296		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr13:48919241_48919244delAAAG	ENST00000267163.4	+	4	544_547	c.406_409delAAAG	c.(406-411)aaagaafs	p.KE136fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	136					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(6)|p.E137*(2)		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)"""	TAACTTACTAAAAGAAATTGATAC	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.2		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		23	Whole gene deletion(15)|Unknown(6)|Substitution - Nonsense(2)	p.?(5)|p.E137*(2)	bone(11)|breast(6)|eye(3)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	GRCh37	CM961221	RB1	M	rs121913296	c.(406-411)AAAGAAfs		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)																																			SO:0001589	frameshift_variant	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.chr13:48919241_48919244delAAAG	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.406_409delAAAG	13.37:g.48919241_48919244delAAAG	ENSP00000267163:p.Lys136fs	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_uc010acs.1_Intron	p.K136fs	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	4	572_575	+		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)	136_137		E -> D (in RB; unilateral form).			A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	ENST00000267163.4	37	c.406_409delAAAG	CCDS31973.1																																																																																				0.284	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
REM2	161253	broad.mit.edu	37	14	23353987	23353987	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr14:23353987C>T	ENST00000267396.4	+	2	331	c.208C>T	c.(208-210)Cct>Tct	p.P70S	REM2_ENST00000536884.1_Missense_Mutation_p.P70S	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	70					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		AGGCAGTATGCCTGTCCCCTA	0.607																																						uc001whf.1																			0				large_intestine(1)|central_nervous_system(1)	2						c.(208-210)CCT>TCT		rad and gem related GTP binding protein 2							39.0	45.0	43.0					14																	23353987		2078	4211	6289	SO:0001583	missense	161253				regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding	g.chr14:23353987C>T		CCDS45082.1	14q11.2	2014-05-09	2006-12-14		ENSG00000139890	ENSG00000139890			20248	protein-coding gene	gene with protein product			"""RAS (RAD and GEM) like GTP binding 2"""			10727423	Standard	NM_173527		Approved	FLJ38964	uc001whf.1	Q8IYK8	OTTHUMG00000170277	ENST00000267396.4:c.208C>T	14.37:g.23353987C>T	ENSP00000267396:p.Pro70Ser					REM2_uc010tnd.1_Missense_Mutation_p.P62S	p.P70S	NM_173527	NP_775798	Q8IYK8	REM2_HUMAN		GBM - Glioblastoma multiforme(265;0.012)	2	273	+	all_cancers(95;4.69e-05)		70					B7Z5P1|Q8N8R8	Missense_Mutation	SNP	ENST00000267396.4	37	c.208C>T	CCDS45082.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036022	0.93630	.	.	ENSG00000139890	ENST00000267396;ENST00000536884	T;T	0.69175	-0.38;0.16	5.73	5.73	0.89815	.	0.115343	0.64402	D	0.000012	T	0.75620	0.3874	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.76326	-0.3000	10	0.56958	D	0.05	.	18.6556	0.91452	0.0:1.0:0.0:0.0	.	70;70	B7Z5P1;Q8IYK8	.;REM2_HUMAN	S	70	ENSP00000267396:P70S;ENSP00000442774:P70S	ENSP00000267396:P70S	P	+	1	0	REM2	22423827	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.415000	0.44635	2.713000	0.92767	0.655000	0.94253	CCT		0.607	REM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408290.1	NM_173527	
FMN1	342184	broad.mit.edu	37	15	33261062	33261062	+	Missense_Mutation	SNP	G	G	A	rs199798243	byFrequency	TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr15:33261062G>A	ENST00000559047.1	-	5	2839	c.2840C>T	c.(2839-2841)cCa>cTa	p.P947L	FMN1_ENST00000334528.9_Missense_Mutation_p.P724L|FMN1_ENST00000561249.1_Missense_Mutation_p.P849L|SNORD77_ENST00000391113.1_RNA			Q68DA7	FMN1_HUMAN	formin 1	947	FH1.|Pro-rich.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TCCTGGGGGTGGTGGAGCAGG	0.627													G|||	10	0.00199681	0.0	0.0	5008	,	,		4569	0.0099		0.0	False		,,,				2504	0.0					uc001zhf.3																			0				ovary(1)	1						c.(2170-2172)CCA>CTA		formin 1							20.0	21.0	21.0					15																	33261062		1761	3957	5718	SO:0001583	missense	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33261062G>A	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2840C>T	15.37:g.33261062G>A	ENSP00000454047:p.Pro947Leu						p.P724L	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	4	2171	-		all_lung(180;1.14e-07)	947			FH1.|Pro-rich.		Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37	c.2171C>T		4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	G	0.227	-1.024404	0.02061	.	.	ENSG00000248905	ENST00000334528	D	0.87650	-2.28	4.21	2.25	0.28309	.	1.173830	0.06279	N	0.697133	T	0.70657	0.3249	N	0.19112	0.55	.	.	.	B	0.06786	0.001	B	0.13407	0.009	T	0.62072	-0.6931	9	0.15066	T	0.55	.	7.0154	0.24885	0.1002:0.1765:0.7233:0.0	.	724	Q68DA7-5	.	L	724	ENSP00000333950:P724L	ENSP00000333950:P724L	P	-	2	0	FMN1	31048354	0.991000	0.36638	0.032000	0.17829	0.092000	0.18411	5.304000	0.65744	0.387000	0.25024	-0.142000	0.14014	CCA		0.627	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184	
PLCB2	5330	broad.mit.edu	37	15	40590478	40590478	+	Silent	SNP	G	G	A	rs375119309		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr15:40590478G>A	ENST00000260402.3	-	11	1350	c.1101C>T	c.(1099-1101)gaC>gaT	p.D367D	PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000557821.1_Silent_p.D367D|PLCB2_ENST00000456256.2_Silent_p.D367D	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	367	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TGGGCTCCTCGTCAGGGGGTT	0.602																																						uc001zld.2																			0				ovary(3)|breast(3)|kidney(1)|pancreas(1)	8						c.(1099-1101)GAC>GAT		phospholipase C, beta 2		G		1,4237		0,1,2118	61.0	67.0	65.0		1101	-5.4	0.5	15		65	0,8542		0,0,4271	no	coding-synonymous	PLCB2	NM_004573.2		0,1,6389	AA,AG,GG		0.0,0.0236,0.0078		367/1186	40590478	1,12779	2119	4271	6390	SO:0001819	synonymous_variant	5330				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40590478G>A		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.1101C>T	15.37:g.40590478G>A						PLCB2_uc010bbo.2_Silent_p.D367D|PLCB2_uc010ucm.1_Silent_p.D367D	p.D367D	NM_004573	NP_004564	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	11	1402	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	367			PI-PLC X-box.		A8K6J2|B9EGH5	Silent	SNP	ENST00000260402.3	37	c.1101C>T	CCDS42020.1																																																																																				0.602	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1		
IGF1R	3480	broad.mit.edu	37	15	99456497	99456497	+	Missense_Mutation	SNP	G	G	T	rs45553041		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr15:99456497G>T	ENST00000268035.6	+	8	2425	c.1814G>T	c.(1813-1815)cGc>cTc	p.R605L	IGF1R_ENST00000558762.1_Missense_Mutation_p.R605L	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	605	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.		R -> H (in dbSNP:rs45553041). {ECO:0000269|Ref.4}.		axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	TTGTACATTCGCACCAATGCT	0.532																																						uc002bul.2																			0				lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8						c.(1813-1815)CGC>CTC		insulin-like growth factor 1 receptor precursor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						172.0	117.0	135.0					15																	99456497		2197	4297	6494	SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99456497G>T	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.1814G>T	15.37:g.99456497G>T	ENSP00000268035:p.Arg605Leu					IGF1R_uc010urq.1_Missense_Mutation_p.R605L|IGF1R_uc010bon.2_Missense_Mutation_p.R605L|IGF1R_uc010urr.1_Missense_Mutation_p.R55L	p.R605L	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		8	1864	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		605			Fibronectin type-III 1.		B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.1814G>T	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.156419	0.78114	.	.	ENSG00000140443	ENST00000268035	T	0.70282	-0.47	4.59	4.59	0.56863	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000029	T	0.73845	0.3639	M	0.80982	2.52	0.80722	D	1	B;B	0.32382	0.368;0.147	B;B	0.31751	0.078;0.135	T	0.78453	-0.2198	10	0.72032	D	0.01	.	17.9418	0.89027	0.0:0.0:1.0:0.0	.	605;605	C9J5X1;P08069	.;IGF1R_HUMAN	L	605	ENSP00000268035:R605L	ENSP00000268035:R605L	R	+	2	0	IGF1R	97274020	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.718000	0.84743	2.527000	0.85204	0.563000	0.77884	CGC		0.532	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875	
NQO1	1728	broad.mit.edu	37	16	69760486	69760487	+	5'UTR	DEL	TT	TT	-	rs369033879	byFrequency	TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr16:69760486_69760487delTT	ENST00000320623.5	-	0	367_368				NQO1_ENST00000439109.2_5'Flank|NQO1_ENST00000564043.1_5'Flank|NQO1_ENST00000379046.2_5'UTR|CTD-2033A16.3_ENST00000575838.1_RNA|NQO1_ENST00000379047.3_5'UTR|NQO1_ENST00000561500.1_5'Flank	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN	NAD(P)H dehydrogenase, quinone 1						aging (GO:0007568)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cellular amino acid metabolic process (GO:0006521)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|NAD(P)H dehydrogenase (quinone) activity (GO:0003955)|poly(A) RNA binding (GO:0044822)|superoxide dismutase activity (GO:0004784)			autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10					Carboplatin(DB00958)|Cisplatin(DB00515)|Dicoumarol(DB00266)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|Menadione(DB00170)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	GCATTCTCTCTTATATATCCTG	0.644														7	0.00139776	0.0	0.0043	5008	,	,		15277	0.0		0.002	False		,,,				2504	0.002					uc002exp.2																			0					0						c.(-146--141)ATAAGA>ATGA		NAD(P)H menadione oxidoreductase 1,	Dicumarol(DB00266)|Menadione(DB00170)																																			SO:0001623	5_prime_UTR_variant	1728				nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process	cytosol	coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity|NAD(P)H dehydrogenase (quinone) activity	g.chr16:69760486_69760487delTT	M81600	CCDS10883.1, CCDS32471.1, CCDS32472.1, CCDS67067.1	16q12-q22	2012-10-02	2001-11-30	2001-12-07	ENSG00000181019	ENSG00000181019	1.6.5.2		2874	protein-coding gene	gene with protein product		125860	"""diaphorase (NADH/NADPH) (cytochrome b-5 reductase)"""	NMOR1, DIA4		2843525	Standard	NM_001286137		Approved	DHQU, QR1, DTD	uc002exp.3	P15559	OTTHUMG00000137575	ENST00000320623.5:c.-145AA>-	16.37:g.69760486_69760487delTT						NQO1_uc010cfm.2_5'Flank|NQO1_uc002exq.2_Translation_Start_Site|NQO1_uc002exr.2_Translation_Start_Site|NQO1_uc010vll.1_Translation_Start_Site		NM_000903	NP_000894	P15559	NQO1_HUMAN			1	47_48	-								B2R5Y9|B4DNM7|B7ZAD1|Q86UK1	Translation_Start_Site	DEL	ENST00000320623.5	37	c.-144_-143delAA	CCDS10883.1																																																																																				0.644	NQO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268956.2		
TP53	7157	broad.mit.edu	37	17	7578518	7578518	+	Missense_Mutation	SNP	C	C	T	rs28934875		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr17:7578518C>T	ENST00000269305.4	-	5	601	c.412G>A	c.(412-414)Gcc>Acc	p.A138T	TP53_ENST00000445888.2_Missense_Mutation_p.A138T|TP53_ENST00000420246.2_Missense_Mutation_p.A138T|TP53_ENST00000455263.2_Missense_Mutation_p.A138T|TP53_ENST00000413465.2_Missense_Mutation_p.A138T|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.A138T	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	138	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		A -> D (in sporadic cancers; somatic mutation).|A -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934875).|A -> S (in LFS; germline mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.A138P(16)|p.0?(8)|p.A138fs*32(5)|p.A138_P142delAKTCP(4)|p.A138T(4)|p.C135fs*9(3)|p.A138fs*11(3)|p.N131fs*27(2)|p.A138fs*31(1)|p.L137_W146del10(1)|p.K139fs*4(1)|p.F134_T140>S(1)|p.A45_P49delAKTCP(1)|p.V73fs*9(1)|p.K132_A138delKMFCQLA(1)|p.A138_V143delAKTCPV(1)|p.A6_P10delAKTCP(1)|p.C3fs*9(1)|p.A138del(1)|p.A6P(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.Q136_K139delQLAK(1)|p.C135_T140delCQLAKT(1)|p.A138S(1)|p.A45P(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGGTCTTGGCCAGTTGGCAA	0.567		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	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		63	Substitution - Missense(23)|Deletion - Frameshift(15)|Deletion - In frame(13)|Whole gene deletion(8)|Insertion - Frameshift(3)|Complex - deletion inframe(1)	p.A138V(17)|p.A138P(13)|p.0?(7)|p.A138fs*32(5)|p.A138T(4)|p.A138fs*11(3)|p.N131fs*27(2)|p.A138fs*31(1)|p.L137_W146del10(1)|p.K139fs*4(1)|p.F134_T140>S(1)|p.V73fs*9(1)|p.L137_A138insX(1)|p.K132_A138delKMFCQLA(1)|p.A138_V143delAKTCPV(1)|p.A138del(1)|p.A138_P142delAKTCP(1)|p.C135_A138delCQLA(1)|p.Q136_K139delQLAK(1)|p.A138A(1)|p.C135_T140delCQLAKT(1)|p.A138S(1)	breast(10)|ovary(9)|lung(8)|haematopoietic_and_lymphoid_tissue(7)|upper_aerodigestive_tract(6)|urinary_tract(6)|bone(4)|large_intestine(3)|central_nervous_system(3)|oesophagus(3)|stomach(1)|soft_tissue(1)|skin(1)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM942116|CM983475	TP53	M	rs28934875	c.(412-414)GCC>ACC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							54.0	54.0	54.0					17																	7578518		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578518C>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.412G>A	17.37:g.7578518C>T	ENSP00000269305:p.Ala138Thr	HNSCC(1;<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.A138T|TP53_uc002gih.2_Missense_Mutation_p.A138T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.A6T|TP53_uc010cng.1_Missense_Mutation_p.A6T|TP53_uc002gii.1_Missense_Mutation_p.A6T|TP53_uc010cnh.1_Missense_Mutation_p.A138T|TP53_uc010cni.1_Missense_Mutation_p.A138T|TP53_uc002gij.2_Missense_Mutation_p.A138T|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.A45T|TP53_uc002gio.2_Missense_Mutation_p.A6T|TP53_uc010vug.1_Missense_Mutation_p.A99T	p.A138T	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	606	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	138		A -> D (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> S (in LFS; germline mutation).|A -> V (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.412G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.005961	0.93287	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99869	0.9938	M	0.86651	2.83	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.98;0.998;0.96;0.998;0.998;0.999;1.0	D;D;P;D;D;D;D	0.91635	0.959;0.99;0.595;0.954;0.994;0.992;0.999	D	0.96621	0.9459	10	0.87932	D	0	-15.6629	17.2272	0.86973	0.0:1.0:0.0:0.0	.	99;138;138;45;138;138;138	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	T	138;138;138;138;138;138;127;45;6;45;6;138	ENSP00000410739:A138T;ENSP00000352610:A138T;ENSP00000269305:A138T;ENSP00000398846:A138T;ENSP00000391127:A138T;ENSP00000391478:A138T;ENSP00000425104:A6T;ENSP00000423862:A45T;ENSP00000424104:A138T	ENSP00000269305:A138T	A	-	1	0	TP53	7519243	1.000000	0.71417	0.999000	0.59377	0.516000	0.34256	7.772000	0.85439	2.733000	0.93635	0.655000	0.94253	GCC		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
ABI3	51225	broad.mit.edu	37	17	47297534	47297534	+	Silent	SNP	C	C	T			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr17:47297534C>T	ENST00000225941.1	+	6	1146	c.648C>T	c.(646-648)agC>agT	p.S216S	ABI3_ENST00000419580.2_Silent_p.S210S	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512	Q9P2A4	ABI3_HUMAN	ABI family, member 3	216					cellular component movement (GO:0006928)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			TGTTCAGCAGCGCCGAAGGTG	0.692										HNSCC(55;0.14)																												uc002iop.1																			0					0						c.(646-648)AGC>AGT		NESH protein isoform 1							32.0	35.0	34.0					17																	47297534		2203	4300	6503	SO:0001819	synonymous_variant	51225				cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding	g.chr17:47297534C>T	AB037886	CCDS11546.1, CCDS45725.1	17q21.3	2011-03-04	2008-09-12		ENSG00000108798	ENSG00000108798			29859	protein-coding gene	gene with protein product		606363				10978530, 11956071	Standard	NM_001135186		Approved	NESH, SSH3BP3	uc002iop.1	Q9P2A4	OTTHUMG00000161306	ENST00000225941.1:c.648C>T	17.37:g.47297534C>T		HNSCC(55;0.14)				ABI3_uc002ioq.1_Silent_p.S210S	p.S216S	NM_016428	NP_057512	Q9P2A4	ABI3_HUMAN	Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)		6	1146	+			216					C9IZN8|Q9H0P6	Silent	SNP	ENST00000225941.1	37	c.648C>T	CCDS11546.1																																																																																				0.692	ABI3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364475.1	NM_016428	
DNAH17	8632	broad.mit.edu	37	17	76459049	76459049	+	Silent	SNP	G	G	A			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr17:76459049G>A	ENST00000585328.1	-	57	9160	c.9036C>T	c.(9034-9036)ccC>ccT	p.P3012P	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Silent_p.P3003P	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3003					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GAAAGGTTTTGGGTGTGGTGT	0.522																																						uc010dhp.1																			0				ovary(6)|breast(2)|skin(1)	9						c.(49-51)CCC>CCT		SubName: Full=DNAH17 variant protein; Flags: Fragment;							169.0	142.0	151.0					17																	76459049		2203	4300	6503	SO:0001819	synonymous_variant	8632							g.chr17:76459049G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.9036C>T	17.37:g.76459049G>A						DNAH17_uc002jvs.2_RNA	p.P17P					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		2	273	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.51C>T																																																																																					0.522	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628	
TBCD	6904	broad.mit.edu	37	17	80858560	80858560	+	Silent	SNP	G	G	A			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr17:80858560G>A	ENST00000355528.4	+	18	1813	c.1683G>A	c.(1681-1683)caG>caA	p.Q561Q	TBCD_ENST00000397466.2_Silent_p.Q175Q|TBCD_ENST00000539345.2_Silent_p.Q561Q	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	561					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			AGTACACGCAGCCAATGATAG	0.493																																						uc002kfz.2																			0					0						c.(1681-1683)CAG>CAA		beta-tubulin cofactor D							159.0	153.0	155.0					17																	80858560		1975	4157	6132	SO:0001819	synonymous_variant	6904				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80858560G>A	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.1683G>A	17.37:g.80858560G>A						TBCD_uc002kfx.1_Silent_p.Q544Q|TBCD_uc002kfy.1_Silent_p.Q561Q|TBCD_uc002kgb.1_5'UTR	p.Q561Q	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		18	1813	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	561			HEAT 2.		O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Silent	SNP	ENST00000355528.4	37	c.1683G>A	CCDS45818.1																																																																																				0.493	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993	
ICAM1	3383	broad.mit.edu	37	19	10395175	10395175	+	Missense_Mutation	SNP	C	C	T	rs141326678		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr19:10395175C>T	ENST00000264832.3	+	5	1347	c.1022C>T	c.(1021-1023)aCg>aTg	p.T341M	ICAM1_ENST00000423829.2_Missense_Mutation_p.T119M|CTD-2369P2.5_ENST00000592893.1_RNA|ICAM4_ENST00000340992.4_5'Flank|ICAM4_ENST00000380770.3_5'Flank|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000393717.2_5'Flank	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	341	Ig-like C2-type 4.				adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	GCCAAGGTGACGCTGAATGGG	0.642													C|||	1	0.000199681	0.0008	0.0	5008	,	,		13138	0.0		0.0	False		,,,				2504	0.0					uc002mnq.2																			0				ovary(1)	1						c.(1021-1023)ACG>ATG		intercellular adhesion molecule 1 precursor	Natalizumab(DB00108)|Simvastatin(DB00641)	C	MET/THR	0,4404		0,0,2202	49.0	58.0	55.0		1022	-6.7	0.0	19	dbSNP_134	55	1,8591		0,1,4295	yes	missense	ICAM1	NM_000201.2	81	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	benign	341/533	10395175	1,12995	2202	4296	6498	SO:0001583	missense	3383				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	g.chr19:10395175C>T		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5344	protein-coding gene	gene with protein product	"""human rhinovirus receptor"""	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.1022C>T	19.37:g.10395175C>T	ENSP00000264832:p.Thr341Met					ICAM1_uc010xle.1_Missense_Mutation_p.T119M|ICAM4_uc002mnr.1_5'Flank|ICAM4_uc002mns.1_5'Flank|ICAM4_uc002mnt.1_5'Flank	p.T341M	NM_000201	NP_000192	P05362	ICAM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		5	1341	+			341			Ig-like C2-type 4.|Extracellular (Potential).		B2R6M3|Q5NKV7|Q96B50	Missense_Mutation	SNP	ENST00000264832.3	37	c.1022C>T	CCDS12231.1	.	.	.	.	.	.	.	.	.	.	C	8.843	0.942805	0.18281	0.0	1.16E-4	ENSG00000090339	ENST00000264832;ENST00000423829	T;T	0.07444	3.19;3.19	4.1	-6.7	0.01766	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	2.504230	0.01879	N	0.037703	T	0.04998	0.0134	L	0.35341	1.055	0.09310	N	1	P;P	0.41393	0.748;0.532	B;B	0.32805	0.153;0.137	T	0.33343	-0.9872	10	0.46703	T	0.11	-3.2469	4.0359	0.09729	0.3461:0.3053:0.0:0.3486	.	119;341	E7ESS4;P05362	.;ICAM1_HUMAN	M	341;119	ENSP00000264832:T341M;ENSP00000413124:T119M	ENSP00000264832:T341M	T	+	2	0	ICAM1	10256175	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.059000	0.01393	-1.216000	0.02607	-1.478000	0.00992	ACG		0.642	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1		
SCN1B	6324	broad.mit.edu	37	19	35523525	35523525	+	Missense_Mutation	SNP	G	G	A	rs180943300		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr19:35523525G>A	ENST00000262631.5	+	2	271	c.134G>A	c.(133-135)cGc>cAc	p.R45H	SCN1B_ENST00000595652.1_Missense_Mutation_p.R45H|SCN1B_ENST00000415950.3_Missense_Mutation_p.R45H|SCN1B_ENST00000596348.1_3'UTR	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	45	Ig-like C2-type.				axon guidance (GO:0007411)|cardiac conduction (GO:0061337)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|corticospinal neuron axon guidance (GO:0021966)|locomotion (GO:0040011)|membrane depolarization (GO:0051899)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during Purkinje myocyte cell action potential (GO:0086047)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|intercalated disc (GO:0014704)|node of Ranvier (GO:0033268)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)|voltage-gated sodium channel activity involved in Purkinje myocyte action potential (GO:0086062)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Valproic Acid(DB00313)|Zonisamide(DB00909)	TCCTGCAAGCGCCGCAGCGAG	0.622													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19806	0.0		0.0	False		,,,				2504	0.0					uc002nxp.2																			0				ovary(1)|central_nervous_system(1)	2						c.(133-135)CGC>CAC		sodium channel, voltage-gated, type I, beta							144.0	136.0	139.0					19																	35523525		2203	4300	6503	SO:0001583	missense	6324				axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity	g.chr19:35523525G>A		CCDS12441.1, CCDS46047.1	19q13.12	2014-09-17	2012-02-28		ENSG00000105711	ENSG00000105711		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10586	protein-coding gene	gene with protein product		600235	"""sodium channel, voltage-gated, type I, beta polypeptide"", ""sodium channel, voltage-gated, type I, beta"""			8394762	Standard	NM_001037		Approved		uc002nxo.2	Q07699	OTTHUMG00000182472	ENST00000262631.5:c.134G>A	19.37:g.35523525G>A	ENSP00000262631:p.Arg45His					SCN1B_uc002nxo.1_Missense_Mutation_p.R45H|SCN1B_uc010xsg.1_Missense_Mutation_p.R45H	p.R45H	NM_001037	NP_001028	Q07699	SCN1B_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		2	325	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		45			Extracellular (Potential).|Ig-like C2-type.		Q5TZZ4|Q6TN97	Missense_Mutation	SNP	ENST00000262631.5	37	c.134G>A	CCDS12441.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	12.93	2.085877	0.36758	.	.	ENSG00000105711	ENST00000262631;ENST00000415950	D;D	0.94376	-3.41;-3.41	3.82	2.78	0.32641	Immunoglobulin (1);Immunoglobulin-like fold (1);	0.247932	0.31847	N	0.006961	D	0.92593	0.7647	L	0.34521	1.04	0.31316	N	0.686594	D;D;D	0.76494	0.998;0.999;0.999	D;P;D	0.69824	0.962;0.886;0.966	D	0.89288	0.3617	10	0.42905	T	0.14	-25.1532	7.0817	0.25235	0.1246:0.0:0.8754:0.0	.	45;45;45	B4DI92;Q07699;Q07699-2	.;SCN1B_HUMAN;.	H	45	ENSP00000262631:R45H;ENSP00000396915:R45H	ENSP00000262631:R45H	R	+	2	0	SCN1B	40215365	0.827000	0.29292	0.909000	0.35828	0.013000	0.08279	1.153000	0.31676	0.825000	0.34637	-0.251000	0.11542	CGC		0.622	SCN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461567.1		
SPTBN4	57731	broad.mit.edu	37	19	41063199	41063199	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr19:41063199C>T	ENST00000352632.3	+	26	5646	c.5560C>T	c.(5560-5562)Cgg>Tgg	p.R1854W	SPTBN4_ENST00000392025.1_Missense_Mutation_p.R597W|SPTBN4_ENST00000392023.1_Missense_Mutation_p.R530W|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R1854W|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R1854W|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R1854W			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1854					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGAGGAGAAGCGGAGGCGGCT	0.647																																						uc002ony.2																			0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(5560-5562)CGG>TGG		spectrin, beta, non-erythrocytic 4 isoform							27.0	31.0	30.0					19																	41063199		2195	4290	6485	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41063199C>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.5560C>T	19.37:g.41063199C>T	ENSP00000263373:p.Arg1854Trp					SPTBN4_uc002onx.2_Missense_Mutation_p.R1854W|SPTBN4_uc002onz.2_Missense_Mutation_p.R1854W|SPTBN4_uc010egx.2_Missense_Mutation_p.R597W|SPTBN4_uc002ooa.2_Missense_Mutation_p.R530W	p.R1854W	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		26	5646	+			1854			Spectrin 16.		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.5560C>T	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.347732	0.61183	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	3.63	1.31	0.21738	.	0.206139	0.32935	N	0.005473	T	0.40040	0.1101	N	0.19112	0.55	0.34409	D	0.696102	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.73708	0.954;0.913;0.965;0.981	T	0.52939	-0.8508	10	0.72032	D	0.01	.	10.579	0.45244	0.6436:0.3564:0.0:0.0	.	597;530;1854;1854	C9JY79;E9PGQ5;Q9H254;Q71S06	.;.;SPTN4_HUMAN;.	W	1854;1854;1854;597;530	ENSP00000263373:R1854W;ENSP00000340345:R1854W;ENSP00000375879:R597W;ENSP00000375877:R530W	ENSP00000340345:R1854W	R	+	1	2	SPTBN4	45755039	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.812000	0.47994	0.287000	0.22375	0.455000	0.32223	CGG		0.647	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2		
KLK6	5653	broad.mit.edu	37	19	51466671	51466671	+	Missense_Mutation	SNP	C	C	T	rs553226234		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr19:51466671C>T	ENST00000376851.3	-	4	771	c.332G>A	c.(331-333)cGc>cAc	p.R111H	KLK6_ENST00000594641.1_Missense_Mutation_p.R111H|KLK6_ENST00000376853.4_Intron|KLK6_ENST00000391808.1_Missense_Mutation_p.R4H|KLK6_ENST00000310157.2_Missense_Mutation_p.R111H|KLK6_ENST00000456750.2_Missense_Mutation_p.R4H|CTB-147C22.8_ENST00000601506.1_RNA	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	111	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amyloid precursor protein metabolic process (GO:0042982)|central nervous system development (GO:0007417)|collagen catabolic process (GO:0030574)|hormone metabolic process (GO:0042445)|myelination (GO:0042552)|neuron death (GO:0070997)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|protein autoprocessing (GO:0016540)|regulation of cell differentiation (GO:0045595)|regulation of neuron projection development (GO:0010975)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		GCGTGCCAGGCGCAACAGCAT	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		19571	0.0		0.0	False		,,,				2504	0.001					uc002pui.2																			0					0						c.(331-333)CGC>CAC		kallikrein-related peptidase 6 isoform A							90.0	64.0	73.0					19																	51466671		2203	4300	6503	SO:0001583	missense	5653				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity	g.chr19:51466671C>T	U62801	CCDS12811.1, CCDS42599.1	19q13.3	2011-09-07	2006-10-27			ENSG00000167755		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6367	protein-coding gene	gene with protein product		602652	"""protease, serine, 18"", ""kallikrein 6 (neurosin, zyme)"""	PRSS9, PRSS18		9003450, 16800724, 16800723	Standard	NM_002774		Approved	Bssp, Klk7, neurosin	uc002pui.3	Q92876		ENST00000376851.3:c.332G>A	19.37:g.51466671C>T	ENSP00000366047:p.Arg111His					KLK6_uc010eoj.2_Intron|KLK6_uc002puh.2_Missense_Mutation_p.R120H|KLK6_uc002puj.2_Missense_Mutation_p.R4H|KLK6_uc010ycn.1_Missense_Mutation_p.R4H|KLK6_uc002pul.2_Missense_Mutation_p.R111H|KLK6_uc002pum.2_Missense_Mutation_p.R4H	p.R111H	NM_001012964	NP_001012982	Q92876	KLK6_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)	5	592	-		all_neural(266;0.026)	111			Peptidase S1.		A6NJA1|A8MW09|Q6H301	Missense_Mutation	SNP	ENST00000376851.3	37	c.332G>A	CCDS12811.1	.	.	.	.	.	.	.	.	.	.	N	16.24	3.066532	0.55539	.	.	ENSG00000167755	ENST00000310157;ENST00000376851;ENST00000391808;ENST00000456750	D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54	4.69	-0.0942	0.13646	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.185873	0.26723	N	0.022831	T	0.80747	0.4682	M	0.63843	1.955	0.09310	N	1	P;B	0.35959	0.53;0.014	B;B	0.26202	0.067;0.002	T	0.71189	-0.4666	10	0.51188	T	0.08	.	3.6265	0.08114	0.1695:0.4454:0.0:0.3851	.	111;4	Q92876;Q92876-2	KLK6_HUMAN;.	H	111;111;4;4	ENSP00000309148:R111H;ENSP00000366047:R111H;ENSP00000375684:R4H;ENSP00000409241:R4H	ENSP00000309148:R111H	R	-	2	0	KLK6	56158483	0.093000	0.21703	0.396000	0.26296	0.892000	0.51952	0.379000	0.20585	0.178000	0.19917	0.486000	0.48141	CGC		0.617	KLK6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465060.1	NM_002774	
LILRA5	353514	broad.mit.edu	37	19	54822924	54822924	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr19:54822924C>T	ENST00000301219.3	-	5	591	c.472G>A	c.(472-474)Gtg>Atg	p.V158M	LILRA5_ENST00000432233.3_Missense_Mutation_p.V158M|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000346508.3_Missense_Mutation_p.V146M|LILRA5_ENST00000446712.3_Missense_Mutation_p.V146M	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	158	Ig-like C2-type 2.				innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGAGGGTCACGTTCTCTCCT	0.572																																						uc002qfe.2																			0				upper_aerodigestive_tract(1)	1						c.(472-474)GTG>ATG		leukocyte immunoglobulin-like receptor subfamily							80.0	79.0	80.0					19																	54822924		2203	4300	6503	SO:0001583	missense	353514				innate immune response	extracellular region|integral to membrane	receptor activity	g.chr19:54822924C>T	AF212842	CCDS12888.1, CCDS12889.1	19q13.4	2013-01-11	2005-05-13	2005-05-13	ENSG00000187116	ENSG00000187116		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16309	protein-coding gene	gene with protein product		606047		LILRB7		10941842	Standard	NM_181986		Approved	ILT11, LIR9, CD85, CD85f	uc002qfe.3	A6NI73	OTTHUMG00000065357	ENST00000301219.3:c.472G>A	19.37:g.54822924C>T	ENSP00000301219:p.Val158Met					LILRA5_uc002qff.2_Missense_Mutation_p.V146M|LILRA5_uc010yev.1_Missense_Mutation_p.V158M|LILRA5_uc010yew.1_Missense_Mutation_p.V146M|LILRA5_uc002qfh.1_Missense_Mutation_p.V146M|LILRA5_uc002qfg.1_Missense_Mutation_p.V158M	p.V158M	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	5	592	-	Ovarian(34;0.19)		158			Extracellular (Potential).|Ig-like C2-type 2.		A6NHI3	Missense_Mutation	SNP	ENST00000301219.3	37	c.472G>A	CCDS12888.1	.	.	.	.	.	.	.	.	.	.	T	12.55	1.973033	0.34848	.	.	ENSG00000187116	ENST00000301219;ENST00000346508;ENST00000446712;ENST00000432233	T;T;T;T	0.01215	5.16;5.16;5.16;5.16	3.14	-5.12	0.02893	Immunoglobulin-like fold (1);	0.449133	0.16172	N	0.226238	T	0.03520	0.0101	M	0.81112	2.525	0.09310	N	1	D;D;D;P	0.89917	0.998;0.998;1.0;0.854	P;P;D;B	0.63113	0.584;0.519;0.911;0.268	T	0.00967	-1.1497	10	0.54805	T	0.06	.	5.4183	0.16386	0.0:0.3701:0.1469:0.483	.	146;158;146;158	A6NI73-4;A6NI73-3;A6NI73-2;A6NI73	.;.;.;LIRA5_HUMAN	M	158;146;146;158	ENSP00000301219:V158M;ENSP00000302948:V146M;ENSP00000389499:V146M;ENSP00000404236:V158M	ENSP00000301219:V158M	V	-	1	0	LILRA5	59514736	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.395000	0.07287	-1.187000	0.02709	-2.553000	0.00177	GTG		0.572	LILRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140231.1	NM_181985	
GPAT2	150763	broad.mit.edu	37	2	96691751	96691751	+	Missense_Mutation	SNP	C	C	T	rs562806816	byFrequency	TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr2:96691751C>T	ENST00000434632.1	-	13	1624	c.1165G>A	c.(1165-1167)Gtc>Atc	p.V389I	GPAT2_ENST00000359548.4_Missense_Mutation_p.V389I|GPAT2_ENST00000377137.3_Missense_Mutation_p.V389I|GPAT2_ENST00000453542.1_Missense_Mutation_p.V318I			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	389					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CTGGCACTGACGATGTATTCC	0.612													.|||	3	0.000599042	0.0	0.0	5008	,	,		18509	0.0		0.0	False		,,,				2504	0.0031					uc002svf.2																			0					0						c.(1165-1167)GTC>ATC		glycerol-3-phosphate acyltransferase 2,							26.0	26.0	26.0					2																	96691751		1928	4132	6060	SO:0001583	missense	150763				glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr2:96691751C>T	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"""cancer/testis antigen 123"""					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.1165G>A	2.37:g.96691751C>T	ENSP00000389395:p.Val389Ile					GPAT2_uc002svd.2_Missense_Mutation_p.V202I|GPAT2_uc002sve.2_Missense_Mutation_p.V191I|GPAT2_uc002svg.2_Missense_Mutation_p.V262I|GPAT2_uc010yuh.1_Missense_Mutation_p.V318I|GPAT2_uc002svh.2_Missense_Mutation_p.V389I	p.V389I	NM_207328	NP_997211	Q6NUI2	GPAT2_HUMAN			12	1388	-			389					Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Missense_Mutation	SNP	ENST00000434632.1	37	c.1165G>A	CCDS42714.1	.	.	.	.	.	.	.	.	.	.	c	0.093	-1.163401	0.01673	.	.	ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542;ENST00000377137	T;T;T;T	0.76448	-1.01;-1.01;-0.01;-1.02	4.7	-4.04	0.04010	.	0.890743	0.09739	N	0.762190	T	0.50803	0.1637	N	0.02802	-0.49	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.001;0.001;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.001;0.0;0.0	T	0.36456	-0.9747	10	0.36615	T	0.2	-30.2801	10.6516	0.45651	0.0:0.5558:0.0:0.4442	.	318;389;389;389;318	E9PE95;Q6NUI2-3;Q6NUI2-4;Q6NUI2;B4DNZ9	.;.;.;GPAT2_HUMAN;.	I	389;389;318;389	ENSP00000352547:V389I;ENSP00000389395:V389I;ENSP00000393770:V318I;ENSP00000366341:V389I	ENSP00000352547:V389I	V	-	1	0	GPAT2	96055478	0.000000	0.05858	0.077000	0.20336	0.009000	0.06853	-0.204000	0.09425	-0.397000	0.07691	-1.028000	0.02416	GTC		0.612	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	NM_207328	
TTN	7273	broad.mit.edu	37	2	179395245	179395245	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr2:179395245C>A	ENST00000591111.1	-	308	101398	c.101174G>T	c.(101173-101175)gGa>gTa	p.G33725V	TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G26426V|TTN_ENST00000460472.2_Missense_Mutation_p.G26301V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G32798V|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G26493V|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G35366V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589391.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33725	Ig-like 148.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTAGACGTTCCACCTTCACC	0.363																																						uc010zfg.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(98392-98394)GGA>GTA		titin isoform N2-A							141.0	125.0	130.0					2																	179395245		1843	4094	5937	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179395245C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.101174G>T	2.37:g.179395245C>A	ENSP00000465570:p.Gly33725Val					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G26493V|TTN_uc010zfi.1_Missense_Mutation_p.G26426V|TTN_uc010zfj.1_Missense_Mutation_p.G26301V|TTN_uc002umq.2_5'Flank	p.G32798V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	98617	-			33725					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.98393G>T		.	.	.	.	.	.	.	.	.	.	C	14.09	2.430588	0.43122	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9	5.23	5.23	0.72850	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.90442	0.7007	H	0.94658	3.565	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.992;0.992;0.992;0.996	D	0.93049	0.6464	9	0.87932	D	0	.	18.8263	0.92121	0.0:1.0:0.0:0.0	.	26301;26426;26493;33725	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	32798;26301;26493;26426;26298	ENSP00000343764:G32798V;ENSP00000434586:G26301V;ENSP00000340554:G26493V;ENSP00000352154:G26426V	ENSP00000340554:G26493V	G	-	2	0	TTN	179103491	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	5.732000	0.68563	2.453000	0.82957	0.561000	0.74099	GGA		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179485027	179485027	+	Silent	SNP	G	G	A	rs370808856		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr2:179485027G>A	ENST00000591111.1	-	198	41522	c.41298C>T	c.(41296-41298)gaC>gaT	p.D13766D	TTN_ENST00000359218.5_Silent_p.D6467D|TTN_ENST00000460472.2_Silent_p.D6342D|TTN_ENST00000342992.6_Silent_p.D12839D|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.D6534D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Silent_p.D15407D|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13766	Ig-like 94.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.D12839D(1)|p.D6342D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAAGACAGCGTCATCGAACT	0.433																																						uc010zfg.1																			2	Substitution - coding silent(2)	p.D12839D(1)|p.D6342D(1)	ovary(2)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(38515-38517)GAC>GAT		titin isoform N2-A		G	,,,	1,3743		0,1,1871	110.0	107.0	108.0		19026,38517,19401,19602	-0.6	1.0	2		108	1,8215		0,1,4107	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,2,5978	AA,AG,GG		0.0122,0.0267,0.0167	,,,	6342/26927,12839/33424,6467/27052,6534/27119	179485027	2,11958	1872	4108	5980	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179485027G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.41298C>T	2.37:g.179485027G>A						TTN_uc010zfh.1_Silent_p.D6534D|TTN_uc010zfi.1_Silent_p.D6467D|TTN_uc010zfj.1_Silent_p.D6342D	p.D12839D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		197	38741	-			13766					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.38517C>T																																																																																					0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
ALPP	250	broad.mit.edu	37	2	233243529	233243531	+	In_Frame_Del	DEL	TGC	TGC	-	rs377162921		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr2:233243529_233243531delTGC	ENST00000392027.2	+	1	286_288	c.17_19delTGC	c.(16-21)atgctg>atg	p.L13del	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	13					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GGGCCCTGCAtgctgctgctgct	0.616																																						uc002vsq.2																			0				ovary(1)	1						c.(16-21)ATGCTG>ATG		placental alkaline phosphatase preproprotein																																				SO:0001651	inframe_deletion	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233243529_233243531delTGC	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.17_19delTGC	2.37:g.233243538_233243540delTGC	ENSP00000375881:p.Leu13del					ALPP_uc002vsr.2_5'Flank	p.L13del	NM_001632	NP_001623	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	1	182_184	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	13					P05188|P06861|Q53S78|Q96DB7	In_Frame_Del	DEL	ENST00000392027.2	37	c.17_19delTGC	CCDS2490.1																																																																																				0.616	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632	
SIRPB1	10326	broad.mit.edu	37	20	1552398	1552398	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr20:1552398C>T	ENST00000381605.4	-	3	783	c.719G>A	c.(718-720)cGt>cAt	p.R240H	SIRPB1_ENST00000262929.5_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	240	Ig-like C1-type 1.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GGCAGTCCCACGAAGAGGGTC	0.622																																						uc010gai.2																			0				ovary(1)	1						c.(718-720)CGT>CAT		signal-regulatory protein beta 1 isoform 1							102.0	92.0	95.0					20																	1552398		2203	4300	6503	SO:0001583	missense	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1552398C>T	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.719G>A	20.37:g.1552398C>T	ENSP00000371018:p.Arg240His					SIRPB1_uc002wfk.3_Intron	p.R240H	NM_006065	NP_006056	O00241	SIRB1_HUMAN			3	818	-			240			Ig-like C1-type 1.|Extracellular (Potential).		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.719G>A	CCDS13019.1	.	.	.	.	.	.	.	.	.	.	.	10.72	1.430806	0.25726	.	.	ENSG00000101307	ENST00000381605	T	0.02763	4.17	2.47	1.5	0.22942	Immunoglobulin-like (1);	0.229512	0.29205	N	0.012832	T	0.04724	0.0128	M	0.85197	2.74	0.54753	D	0.999986	B	0.27932	0.194	B	0.23419	0.046	T	0.15809	-1.0424	10	0.48119	T	0.1	.	4.4833	0.11778	0.0:0.8088:0.0:0.1912	.	240	O00241	SIRB1_HUMAN	H	240	ENSP00000371018:R240H	ENSP00000371018:R240H	R	-	2	0	SIRPB1	1500398	0.000000	0.05858	0.969000	0.41365	0.503000	0.33858	-0.141000	0.10327	1.395000	0.46643	0.456000	0.33151	CGT		0.622	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065	
FRG1B	284802	broad.mit.edu	37	20	29625934	29625934	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr20:29625934C>T	ENST00000278882.3	+	5	558	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	60										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTTGTTGGGCATTCAGATGC	0.338																																						uc010ztl.1																			0					0						c.(88-90)CAT>TAT		Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA.																																				SO:0001583	missense	284802							g.chr20:29625934C>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.178C>T	20.37:g.29625934C>T	ENSP00000278882:p.His60Tyr					FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Intron	p.H30Y							2	120	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.88C>T		.	.	.	.	.	.	.	.	.	.	c	3.585	-0.084798	0.07097	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.42131	0.98	1.68	1.68	0.24146	.	0.109676	0.64402	D	0.000005	T	0.32615	0.0835	.	.	.	0.23210	N	0.998115	B	0.26363	0.147	B	0.35859	0.212	T	0.27905	-1.0060	9	0.34782	T	0.22	.	9.3557	0.38164	0.0:1.0:0.0:0.0	.	65	F5H5R5	.	Y	60;65;60	ENSP00000408863:H65Y	ENSP00000278882:H60Y	H	+	1	0	FRG1B	28239595	1.000000	0.71417	0.997000	0.53966	0.021000	0.10359	6.442000	0.73443	1.250000	0.43966	0.184000	0.17185	CAT		0.338	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	
LIMK2	3985	broad.mit.edu	37	22	31658176	31658176	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr22:31658176G>A	ENST00000331728.4	+	6	722	c.608G>A	c.(607-609)cGc>cAc	p.R203H	LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000340552.4_Missense_Mutation_p.R182H|LIMK2_ENST00000333611.4_Missense_Mutation_p.R182H|LIMK2_ENST00000406516.1_Missense_Mutation_p.R125H	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	203	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						CCTGGGGACCGCATCCTGGAG	0.547																																						uc003akh.2																			0				ovary(2)	2						c.(607-609)CGC>CAC		LIM domain kinase 2 isoform 2a							150.0	142.0	145.0					22																	31658176		2203	4300	6503	SO:0001583	missense	3985					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	g.chr22:31658176G>A	D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.608G>A	22.37:g.31658176G>A	ENSP00000332687:p.Arg203His					LIMK2_uc003akg.2_Missense_Mutation_p.R120H|LIMK2_uc003aki.2_Intron|LIMK2_uc003akj.2_Missense_Mutation_p.R182H|LIMK2_uc003akk.2_Missense_Mutation_p.R182H|LIMK2_uc011aln.1_Missense_Mutation_p.R120H	p.R203H	NM_005569	NP_005560	P53671	LIMK2_HUMAN			6	753	+			203			PDZ.		A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	ENST00000331728.4	37	c.608G>A	CCDS13891.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449939	0.84101	.	.	ENSG00000182541	ENST00000406516;ENST00000331728;ENST00000436394;ENST00000333611;ENST00000340552	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.51	5.51	0.81932	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.49064	0.1535	L	0.49778	1.585	0.80722	D	1	P;D;P;D	0.71674	0.844;0.96;0.871;0.998	B;P;P;P	0.61328	0.407;0.716;0.542;0.887	T	0.46541	-0.9184	10	0.72032	D	0.01	-19.1698	18.4111	0.90550	0.0:0.0:1.0:0.0	.	235;182;203;125	F5GY29;Q7L3H5;P53671;B5MC51	.;.;LIMK2_HUMAN;.	H	125;203;235;182;182	ENSP00000384602:R125H;ENSP00000332687:R203H;ENSP00000330470:R182H;ENSP00000339916:R182H	ENSP00000332687:R203H	R	+	2	0	LIMK2	29988176	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.632000	0.83247	2.588000	0.87417	0.655000	0.94253	CGC		0.547	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733	
MYL3	4634	broad.mit.edu	37	3	46901034	46901034	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr3:46901034G>A	ENST00000395869.1	-	4	463	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	MYL3_ENST00000292327.4_Missense_Mutation_p.R138W			P08590	MYL3_HUMAN	myosin, light chain 3, alkali; ventricular, skeletal, slow	138	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|muscle filament sliding (GO:0030049)|positive regulation of ATPase activity (GO:0032781)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|skeletal muscle tissue development (GO:0007519)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|cytosol (GO:0005829)|I band (GO:0031674)|muscle myosin complex (GO:0005859)|sarcomere (GO:0030017)	actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|motor activity (GO:0003774)|myosin II heavy chain binding (GO:0032038)|structural constituent of muscle (GO:0008307)			breast(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		TCGAAGACCCGCAGCCCCTCC	0.572																																					Melanoma(166;130 1949 2249 18977 46142)	uc003cql.1																			0					0						c.(412-414)CGG>TGG		slow skeletal ventricular myosin alkali light							175.0	159.0	164.0					3																	46901034		2203	4300	6503	SO:0001583	missense	4634				cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|cytosol|I band|muscle myosin complex	actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle	g.chr3:46901034G>A		CCDS2746.1	3p	2014-09-17	2006-09-29		ENSG00000160808	ENSG00000160808		"""Myosins / Light chain"", ""EF-hand domain containing"""	7584	protein-coding gene	gene with protein product		160790	"""myosin, light polypeptide 3, alkali; ventricular, skeletal, slow"""			1479618, 2784124	Standard	NM_000258		Approved	CMH8, VLC1, MLC1V, MLC1SB	uc003cql.1	P08590	OTTHUMG00000133516	ENST00000395869.1:c.412C>T	3.37:g.46901034G>A	ENSP00000379210:p.Arg138Trp						p.R138W	NM_000258	NP_000249	P08590	MYL3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)	4	505	-			138			EF-hand 2.		B2R534|Q9NRS8	Missense_Mutation	SNP	ENST00000395869.1	37	c.412C>T	CCDS2746.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880259	0.72294	.	.	ENSG00000160808	ENST00000395869;ENST00000292327	D;D	0.85258	-1.96;-1.96	4.25	3.29	0.37713	EF-hand-like domain (1);	0.000000	0.64402	D	0.000001	D	0.93743	0.8000	H	0.96833	3.89	0.80722	D	1	D	0.71674	0.998	D	0.65684	0.937	D	0.94379	0.7603	10	0.66056	D	0.02	-23.5756	11.2251	0.48880	0.0:0.0:0.8167:0.1833	.	138	P08590	MYL3_HUMAN	W	138	ENSP00000379210:R138W;ENSP00000292327:R138W	ENSP00000292327:R138W	R	-	1	2	MYL3	46876038	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.746000	0.47467	2.375000	0.81037	0.555000	0.69702	CGG		0.572	MYL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259165.2	NM_000258	
PCOLCE2	26577	broad.mit.edu	37	3	142567280	142567280	+	Missense_Mutation	SNP	C	C	T	rs143959509		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr3:142567280C>T	ENST00000295992.3	-	3	533	c.227G>A	c.(226-228)cGa>cAa	p.R76Q	PCOLCE2_ENST00000485766.1_Missense_Mutation_p.R76Q	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	76	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						GTCTATGAATCGGAAATTGAG	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		20044	0.0		0.001	False		,,,				2504	0.0					uc003evd.2																			0				ovary(2)|skin(1)	3						c.(226-228)CGA>CAA		procollagen C-endopeptidase enhancer 2		C	GLN/ARG	0,4406		0,0,2203	73.0	72.0	73.0		227	5.1	1.0	3	dbSNP_134	73	2,8598	2.2+/-6.3	0,2,4298	no	missense	PCOLCE2	NM_013363.3	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	76/416	142567280	2,13004	2203	4300	6503	SO:0001583	missense	26577					extracellular region	collagen binding|heparin binding|peptidase activator activity	g.chr3:142567280C>T	AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.227G>A	3.37:g.142567280C>T	ENSP00000295992:p.Arg76Gln						p.R76Q	NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN			3	423	-			76			CUB 1.		B2RCH9|D3DNG4|Q9BRH3	Missense_Mutation	SNP	ENST00000295992.3	37	c.227G>A	CCDS3127.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	12.11	1.839321	0.32513	0.0	2.33E-4	ENSG00000163710	ENST00000295992;ENST00000485766	T;T	0.16597	2.33;2.33	5.1	5.1	0.69264	CUB (5);	0.118422	0.64402	D	0.000018	T	0.13200	0.0320	L	0.28740	0.885	0.54753	D	0.999982	P	0.41265	0.744	B	0.36666	0.23	T	0.10177	-1.0641	10	0.11794	T	0.64	-3.7224	18.7404	0.91772	0.0:1.0:0.0:0.0	.	76	Q9UKZ9	PCOC2_HUMAN	Q	76	ENSP00000295992:R76Q;ENSP00000419842:R76Q	ENSP00000295992:R76Q	R	-	2	0	PCOLCE2	144049970	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	5.628000	0.67791	2.666000	0.90696	0.644000	0.83932	CGA		0.473	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354509.1	NM_013363	
ARHGEF26	26084	broad.mit.edu	37	3	153840688	153840688	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr3:153840688G>C	ENST00000356448.4	+	2	1191	c.907G>C	c.(907-909)Gat>Cat	p.D303H	ARHGEF26-AS1_ENST00000480639.1_RNA|ARHGEF26-AS1_ENST00000491862.1_RNA|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.D303H|ARHGEF26_ENST00000465817.1_Missense_Mutation_p.D303H|ARHGEF26-AS1_ENST00000467912.1_RNA|ARHGEF26-AS1_ENST00000479270.1_RNA	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	303					endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						TAACGACGTGGATAGCCCAGG	0.597																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)	uc011bog.1																			0				large_intestine(1)	1						c.(907-909)GAT>CAT		Src homology 3 domain-containing guanine							47.0	61.0	56.0					3																	153840688		2037	4176	6213	SO:0001583	missense	26084				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity	g.chr3:153840688G>C	BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24490	protein-coding gene	gene with protein product	"""Src homology 3 domain-containing guanine nucleotide exchange factor"""					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.907G>C	3.37:g.153840688G>C	ENSP00000348828:p.Asp303His					uc003ezu.1_5'Flank|SGEF_uc011boh.1_Missense_Mutation_p.D303H	p.D303H	NM_015595	NP_056410	Q96DR7	ARHGQ_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		2	1118	+			303					B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Missense_Mutation	SNP	ENST00000356448.4	37	c.907G>C	CCDS46938.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902320	0.72754	.	.	ENSG00000114790	ENST00000356448;ENST00000465093;ENST00000465817	T;T;T	0.60040	0.22;0.22;1.86	5.3	4.42	0.53409	.	0.102000	0.64402	D	0.000003	T	0.63153	0.2487	L	0.53249	1.67	0.46749	D	0.999182	P;P	0.49961	0.93;0.93	P;P	0.50231	0.635;0.635	T	0.67397	-0.5681	10	0.66056	D	0.02	-21.8615	15.3605	0.74469	0.0:0.0:0.8594:0.1406	.	303;303	E9PBD0;Q96DR7	.;ARHGQ_HUMAN	H	303	ENSP00000348828:D303H;ENSP00000423418:D303H;ENSP00000423295:D303H	ENSP00000348828:D303H	D	+	1	0	ARHGEF26	155323378	1.000000	0.71417	0.874000	0.34290	0.818000	0.46254	5.117000	0.64667	1.218000	0.43458	0.561000	0.74099	GAT		0.597	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595	
UGT2A3	79799	broad.mit.edu	37	4	69817091	69817091	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr4:69817091A>G	ENST00000251566.4	-	1	418	c.388T>C	c.(388-390)Tac>Cac	p.Y130H	UGT2A3_ENST00000420231.2_5'Flank	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	130					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTCTGATTGTAGATAAAGCTC	0.383																																						uc003hef.2																			0				ovary(1)|skin(1)	2						c.(388-390)TAC>CAC		UDP glucuronosyltransferase 2 family,							64.0	65.0	65.0					4																	69817091		2203	4300	6503	SO:0001583	missense	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69817091A>G		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.388T>C	4.37:g.69817091A>G	ENSP00000251566:p.Tyr130His					UGT2A3_uc010ihp.1_RNA	p.Y130H	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN			1	419	-			130			Extracellular (Potential).		Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	c.388T>C	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	A	11.83	1.755295	0.31046	.	.	ENSG00000135220	ENST00000251566	T	0.61274	0.12	4.74	3.52	0.40303	.	0.288443	0.28290	N	0.015881	T	0.52451	0.1735	N	0.26130	0.795	0.09310	N	0.999999	D	0.54964	0.969	D	0.64595	0.927	T	0.43442	-0.9391	10	0.15066	T	0.55	.	4.2188	0.10547	0.7254:0.0:0.0968:0.1778	.	130	Q6UWM9	UD2A3_HUMAN	H	130	ENSP00000251566:Y130H	ENSP00000251566:Y130H	Y	-	1	0	UGT2A3	69851680	0.000000	0.05858	0.009000	0.14445	0.622000	0.37654	-0.267000	0.08619	1.996000	0.58369	0.482000	0.46254	TAC		0.383	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743	
ANXA3	306	broad.mit.edu	37	4	79503370	79503370	+	Missense_Mutation	SNP	T	T	A			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr4:79503370T>A	ENST00000264908.6	+	5	617	c.238T>A	c.(238-240)Ttt>Att	p.F80I	ANXA3_ENST00000503570.2_Missense_Mutation_p.F41I|ANXA3_ENST00000512884.1_Missense_Mutation_p.F41I	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	80					defense response to bacterium (GO:0042742)|neutrophil degranulation (GO:0043312)|phagocytosis (GO:0006909)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CTCTGGCCACTTTGAGCATCT	0.428																																					GBM(2;126 157 27790 28920 42492)	uc003hld.2																			0					0						c.(238-240)TTT>ATT		annexin A3							90.0	86.0	88.0					4																	79503370		2203	4300	6503	SO:0001583	missense	306				defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity	g.chr4:79503370T>A	M63310	CCDS3584.1	4q21.21	2009-07-10			ENSG00000138772	ENSG00000138772	3.1.4.43	"""Annexins"""	541	protein-coding gene	gene with protein product		106490		ANX3		1830024	Standard	XM_005262973		Approved		uc003hld.3	P12429	OTTHUMG00000130198	ENST00000264908.6:c.238T>A	4.37:g.79503370T>A	ENSP00000264908:p.Phe80Ile					ANXA3_uc003hle.2_Missense_Mutation_p.F41I|ANXA3_uc010ijk.2_Missense_Mutation_p.F41I	p.F80I	NM_005139	NP_005130	P12429	ANXA3_HUMAN			5	548	+			80			Annexin 1.		B2R9W6|Q6LET2	Missense_Mutation	SNP	ENST00000264908.6	37	c.238T>A	CCDS3584.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.137931	0.77775	.	.	ENSG00000138772	ENST00000264908;ENST00000512884;ENST00000503570;ENST00000512373;ENST00000514171;ENST00000508214	T;T;T;T;T;T	0.04454	3.62;3.62;3.62;3.62;3.62;3.62	5.16	5.16	0.70880	Annexin repeat, conserved site (1);	0.104199	0.64402	D	0.000003	T	0.25044	0.0608	M	0.93062	3.375	0.58432	D	0.999998	D	0.69078	0.997	D	0.68621	0.959	T	0.03086	-1.1074	10	0.87932	D	0	.	9.1183	0.36771	0.0:0.0852:0.0:0.9148	.	80	P12429	ANXA3_HUMAN	I	80;41;41;80;80;80	ENSP00000264908:F80I;ENSP00000423068:F41I;ENSP00000421015:F41I;ENSP00000424584:F80I;ENSP00000421512:F80I;ENSP00000422281:F80I	ENSP00000264908:F80I	F	+	1	0	ANXA3	79722394	0.946000	0.32159	0.982000	0.44146	0.871000	0.50021	1.246000	0.32803	2.159000	0.67721	0.482000	0.46254	TTT		0.428	ANXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252516.3	NM_005139	
TENM3	55714	broad.mit.edu	37	4	183714569	183714569	+	Silent	SNP	T	T	C			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr4:183714569T>C	ENST00000511685.1	+	26	6867	c.6744T>C	c.(6742-6744)ttT>ttC	p.F2248F	TENM3_ENST00000406950.2_Silent_p.F2248F			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2248					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)										ACCTGCAGTTTTTTTATGCTG	0.438																																						uc003ivd.1																			0					0						c.(6742-6744)TTT>TTC		odz, odd Oz/ten-m homolog 3							60.0	61.0	60.0					4																	183714569		1883	4108	5991	SO:0001819	synonymous_variant	55714				signal transduction	integral to membrane		g.chr4:183714569T>C	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.6744T>C	4.37:g.183714569T>C							p.F2248F	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)	25	6781	+		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)	2248			YD 22.|Extracellular (Potential).		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	c.6744T>C	CCDS47165.1																																																																																				0.438	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1		
PIK3R1	5295	broad.mit.edu	37	5	67589590	67589591	+	In_Frame_Ins	INS	-	-	TAT			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr5:67589590_67589591insTAT	ENST00000521381.1	+	11	1969_1970	c.1353_1354insTAT	c.(1354-1356)tat>TATtat	p.452_452Y>YY	PIK3R1_ENST00000396611.1_In_Frame_Ins_p.452_452Y>YY|PIK3R1_ENST00000521657.1_In_Frame_Ins_p.452_452Y>YY|PIK3R1_ENST00000320694.8_In_Frame_Ins_p.152_152Y>YY|PIK3R1_ENST00000336483.5_In_Frame_Ins_p.182_182Y>YY|PIK3R1_ENST00000523872.1_In_Frame_Ins_p.89_89Y>YY|PIK3R1_ENST00000274335.5_In_Frame_Ins_p.452_452Y>YY	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	452					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.H450_E451del(2)|p.G446_Y452>VI(1)|p.Y152N(1)|p.0?(1)|p.?(1)|p.Y452N(1)|p.Y182N(1)|p.E451_Y452del(1)|p.N453_T454insN(1)|p.E451_Y452delEY(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	AATTACATGAATATAACACTCA	0.277			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												uc003jva.2				Rec	yes		5	5q13.1	5295	Mis|F|O	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			gliobastoma|ovarian|colorectal		11	Deletion - In frame(4)|Substitution - Missense(3)|Insertion - In frame(1)|Unknown(1)|Whole gene deletion(1)|Complex - deletion inframe(1)	p.D434_Q475del(2)|p.H450_E451del(2)|p.G446_Y452>VI(1)|p.Y452_Q455>SGGSRIK(1)|p.?(1)|p.E451_Y452del(1)	endometrium(5)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|lung(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101						c.(1351-1356)insTAT		phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)																																			SO:0001652	inframe_insertion	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589590_67589591insTAT	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1354_1356dupTAT	5.37:g.67589591_67589593dupTAT	ENSP00000428056:p.Tyr452dup	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvb.2_In_Frame_Ins_p.452_453insY|PIK3R1_uc003jvc.2_In_Frame_Ins_p.152_153insY|PIK3R1_uc003jvd.2_In_Frame_Ins_p.182_183insY|PIK3R1_uc003jve.2_In_Frame_Ins_p.131_132insY|PIK3R1_uc011crb.1_In_Frame_Ins_p.122_123insY	p.452_453insY	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	11	1913_1914	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	452_453					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	In_Frame_Ins	INS	ENST00000521381.1	37	c.1353_1354insTAT	CCDS3993.1																																																																																				0.277	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	
GPR98	84059	broad.mit.edu	37	5	89953946	89953946	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr5:89953946G>A	ENST00000405460.2	+	21	4699	c.4603G>A	c.(4603-4605)Gag>Aag	p.E1535K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1535	Calx-beta 10. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGACAATGACGAGGAAGGAGA	0.358																																						uc003kju.2																			0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(4603-4605)GAG>AAG		G protein-coupled receptor 98 precursor							109.0	111.0	110.0					5																	89953946		1835	4088	5923	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89953946G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.4603G>A	5.37:g.89953946G>A	ENSP00000384582:p.Glu1535Lys					GPR98_uc003kjt.2_5'UTR	p.E1535K	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	21	4699	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	1535			Calx-beta 10.|Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.4603G>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204484	0.79127	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.27104	1.69	5.86	5.86	0.93980	.	0.044278	0.85682	D	0.000000	T	0.41534	0.1163	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.21245	-1.0251	10	0.59425	D	0.04	.	20.1823	0.98208	0.0:0.0:1.0:0.0	.	1535	Q8WXG9	GPR98_HUMAN	K	1535	ENSP00000384582:E1535K	ENSP00000296619:E1535K	E	+	1	0	GPR98	89989702	1.000000	0.71417	1.000000	0.80357	0.190000	0.23558	9.578000	0.98200	2.771000	0.95319	0.650000	0.86243	GAG		0.358	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
STK10	6793	broad.mit.edu	37	5	171488225	171488225	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr5:171488225C>T	ENST00000176763.5	-	14	2473	c.2130G>A	c.(2128-2130)atG>atA	p.M710I		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	710			M -> T (in dbSNP:rs34936670). {ECO:0000269|PubMed:17344846}.		cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGAGCCTCTTCATGGCCAGCT	0.612																																						uc003mbo.1																			0				ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8						c.(2128-2130)ATG>ATA		serine/threonine kinase 10							156.0	138.0	144.0					5																	171488225		2203	4300	6503	SO:0001583	missense	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171488225C>T	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.2130G>A	5.37:g.171488225C>T	ENSP00000176763:p.Met710Ile						p.M710I	NM_005990	NP_005981	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		14	2430	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	710			Potential.		A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	37	c.2130G>A	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.743347	0.49151	.	.	ENSG00000072786	ENST00000176763;ENST00000545839	T	0.31769	1.48	4.99	4.99	0.66335	.	0.133683	0.64402	D	0.000010	T	0.34279	0.0892	M	0.62723	1.935	0.38707	D	0.953119	B	0.09022	0.002	B	0.17979	0.02	T	0.20338	-1.0278	10	0.41790	T	0.15	.	15.7898	0.78345	0.0:1.0:0.0:0.0	.	710	O94804	STK10_HUMAN	I	710	ENSP00000176763:M710I	ENSP00000176763:M710I	M	-	3	0	STK10	171420830	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.402000	0.34600	2.299000	0.77371	0.455000	0.32223	ATG		0.612	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990	
IMPG1	3617	broad.mit.edu	37	6	76715225	76715225	+	Missense_Mutation	SNP	G	G	A	rs370162508		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr6:76715225G>A	ENST00000369950.3	-	10	1103	c.914C>T	c.(913-915)aCg>aTg	p.T305M	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AAAGATGGCCGTAAGTTGCAT	0.448													G|||	1	0.000199681	0.0	0.0	5008	,	,		17487	0.001		0.0	False		,,,				2504	0.0				Pancreas(37;839 1141 2599 26037)	uc003pik.1																			0				ovary(2)|skin(1)	3						c.(913-915)ACG>ATG		interphotoreceptor matrix proteoglycan 1		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	110.0	99.0	103.0		914	-2.4	0.0	6		103	0,8600		0,0,4300	no	missense	IMPG1	NM_001563.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	305/798	76715225	1,13005	2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76715225G>A	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.914C>T	6.37:g.76715225G>A	ENSP00000358966:p.Thr305Met						p.T305M	NM_001563	NP_001554	Q17R60	IMPG1_HUMAN			10	1044	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	305			SEA 1.			Missense_Mutation	SNP	ENST00000369950.3	37	c.914C>T	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	G	1.350	-0.591715	0.03799	2.27E-4	0.0	ENSG00000112706	ENST00000369950	T	0.39997	1.05	5.82	-2.44	0.06502	SEA (2);	1.034680	0.07601	N	0.923616	T	0.06325	0.0163	N	0.03177	-0.4	0.09310	N	1	B	0.25772	0.134	B	0.22753	0.041	T	0.33979	-0.9847	10	0.18710	T	0.47	.	11.2022	0.48747	0.4755:0.0:0.5245:0.0	.	305	Q17R60	IMPG1_HUMAN	M	305	ENSP00000358966:T305M	ENSP00000358966:T305M	T	-	2	0	IMPG1	76771945	0.000000	0.05858	0.002000	0.10522	0.392000	0.30506	0.158000	0.16422	-0.381000	0.07882	0.585000	0.79938	ACG		0.448	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563	
ULBP1	80329	broad.mit.edu	37	6	150290460	150290460	+	Missense_Mutation	SNP	T	T	G			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr6:150290460T>G	ENST00000229708.3	+	3	632	c.589T>G	c.(589-591)Ttt>Gtt	p.F197V		NM_025218.2	NP_079494.1	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1	197	MHC class I alpha-2 like.				antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		GCTTGAAGAATTTTTGATGTA	0.443																																						uc003qnp.2																			0				pancreas(1)	1						c.(589-591)TTT>GTT		UL16 binding protein 1 precursor							89.0	91.0	90.0					6																	150290460		2203	4300	6503	SO:0001583	missense	80329				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|endoplasmic reticulum|MHC class I protein complex	MHC class I receptor activity	g.chr6:150290460T>G	AF304377	CCDS5223.1	6q25	2003-04-29			ENSG00000111981	ENSG00000111981			14893	protein-coding gene	gene with protein product		605697				11239445, 11827464	Standard	XM_005267151		Approved	RAET1I	uc003qnp.3	Q9BZM6	OTTHUMG00000015810	ENST00000229708.3:c.589T>G	6.37:g.150290460T>G	ENSP00000229708:p.Phe197Val						p.F197V	NM_025218	NP_079494	Q9BZM6	N2DL1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)	3	632	+		Ovarian(120;0.0907)	197			MHC class I alpha-2 like.		Q5VY81|Q8IZW3|Q8IZX6	Missense_Mutation	SNP	ENST00000229708.3	37	c.589T>G	CCDS5223.1	.	.	.	.	.	.	.	.	.	.	t	12.62	1.993983	0.35131	.	.	ENSG00000111981	ENST00000367345;ENST00000229708	T;T	0.08984	3.03;3.03	2.13	0.861	0.19048	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.10121	0.0248	M	0.73598	2.24	0.09310	N	1	D	0.55172	0.97	P	0.62740	0.906	T	0.10245	-1.0638	9	0.87932	D	0	.	4.202	0.10471	0.3073:0.0:0.0:0.6927	.	197	Q9BZM6	N2DL1_HUMAN	V	197	ENSP00000356314:F197V;ENSP00000229708:F197V	ENSP00000229708:F197V	F	+	1	0	ULBP1	150332153	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-1.368000	0.02580	0.225000	0.20959	0.164000	0.16699	TTT		0.443	ULBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042677.2		
KIF25	3834	broad.mit.edu	37	6	168443281	168443281	+	Silent	SNP	G	G	A	rs371921249		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr6:168443281G>A	ENST00000443060.2	+	9	1261	c.870G>A	c.(868-870)gcG>gcA	p.A290A	KIF25_ENST00000351261.3_Intron|KIF25_ENST00000354419.2_Silent_p.A290A			Q9UIL4	KIF25_HUMAN	kinesin family member 25	290	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GGGAGATGGCGTGCATCAGCC	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		16986	0.0		0.001	False		,,,				2504	0.0					uc003qwk.1																			0				ovary(1)|pancreas(1)	2						c.(868-870)GCG>GCA		kinesin family member 25 isoform 1		G	,	1,4405	2.1+/-5.4	0,1,2202	118.0	111.0	113.0		,870	-8.2	0.0	6		113	0,8600		0,0,4300	no	intron,coding-synonymous	KIF25	NM_005355.3,NM_030615.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	,290/385	168443281	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3834				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr6:168443281G>A	AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"""Kinesins"""	6390	protein-coding gene	gene with protein product		603815	"""kinesin-like 3"""	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.870G>A	6.37:g.168443281G>A						KIF25_uc003qwl.1_Intron	p.A290A	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	8	1132	+		Breast(66;1.07e-05)|Ovarian(120;0.0728)	290			Kinesin-motor.		O94775|Q5SZU9	Silent	SNP	ENST00000443060.2	37	c.870G>A	CCDS5305.1																																																																																				0.647	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1		
TFPI2	7980	broad.mit.edu	37	7	93516588	93516588	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr7:93516588G>A	ENST00000222543.5	-	4	928	c.616C>T	c.(616-618)Cgt>Tgt	p.R206C	TFPI2_ENST00000545378.1_Intron|GNGT1_ENST00000455502.1_Intron	NM_001271003.1|NM_001271004.1|NM_006528.3	NP_001257932.1|NP_001257933.1|NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	206	BPTI/Kunitz inhibitor 3. {ECO:0000255|PROSITE-ProRule:PRU00031}.				blood coagulation (GO:0007596)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			GCACATGCACGTTTGCAATCC	0.323																																						uc003umy.1																			0				pancreas(1)	1						c.(616-618)CGT>TGT		tissue factor pathway inhibitor 2 precursor							102.0	90.0	94.0					7																	93516588		2203	4300	6503	SO:0001583	missense	7980				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity	g.chr7:93516588G>A	L27624	CCDS5632.1	7q	2008-07-18			ENSG00000105825	ENSG00000105825			11761	protein-coding gene	gene with protein product		600033				7896752, 8945635	Standard	NM_006528		Approved	PP5, TFPI-2, REF1	uc003umy.2	P48307	OTTHUMG00000022963	ENST00000222543.5:c.616C>T	7.37:g.93516588G>A	ENSP00000222543:p.Arg206Cys					GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Silent_p.N180N|TFPI2_uc003una.1_Missense_Mutation_p.R195C|TFPI2_uc003unb.1_Missense_Mutation_p.R212C|TFPI2_uc010lfg.1_Missense_Mutation_p.R82C	p.R206C	NM_006528	NP_006519	P48307	TFPI2_HUMAN	STAD - Stomach adenocarcinoma(171;0.000967)		4	691	-	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		206			BPTI/Kunitz inhibitor 3.		Q66ME8|Q8NAK6|Q9UC86	Missense_Mutation	SNP	ENST00000222543.5	37	c.616C>T	CCDS5632.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.528041	0.44969	.	.	ENSG00000105825	ENST00000222543	T	0.59083	0.29	5.47	-0.276	0.12902	Proteinase inhibitor I2, Kunitz metazoa (6);	1.098040	0.06910	N	0.807456	T	0.73575	0.3604	M	0.69185	2.1	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.999	D;P;P	0.63597	0.916;0.877;0.877	T	0.68465	-0.5401	10	0.59425	D	0.04	.	16.4475	0.83942	0.0:0.0:0.2316:0.7684	.	138;195;206	Q8NE89;Q8NAK6;P48307	.;.;TFPI2_HUMAN	C	206	ENSP00000222543:R206C	ENSP00000222543:R206C	R	-	1	0	TFPI2	93354524	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.173000	0.16724	0.028000	0.15324	0.655000	0.94253	CGT		0.323	TFPI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254720.2	NM_006528	
ZAN	7455	broad.mit.edu	37	7	100364654	100364654	+	RNA	SNP	C	C	T	rs377250580		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr7:100364654C>T	ENST00000348028.3	+	0	4799				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGCACAGCCTCGGGTGACCCC	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		18116	0.0		0.001	False		,,,				2504	0.0					uc003uwj.2																			0				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(4633-4635)TCG>TTG		zonadhesin isoform 3		C	LEU/SER,LEU/SER	1,4357		0,1,2178	84.0	89.0	87.0		4634,4634	2.6	0.0	7		87	1,8557		0,1,4278	no	missense,missense	ZAN	NM_003386.1,NM_173059.1	145,145	0,2,6456	TT,TC,CC		0.0117,0.0229,0.0155	possibly-damaging,possibly-damaging	1545/2813,1545/2722	100364654	2,12914	2179	4279	6458			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100364654C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100364654C>T						ZAN_uc003uwk.2_Missense_Mutation_p.S1545L|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_Missense_Mutation_p.S122L	p.S1545L	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		25	4799	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		1545			Extracellular (Potential).|VWFD 2.		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37	c.4634C>T		.	.	.	.	.	.	.	.	.	.	C	20.7	4.035695	0.75617	2.29E-4	1.17E-4	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;T	0.60672	0.17;0.17;0.17;0.17	4.44	2.59	0.31030	von Willebrand factor, type D domain (3);	0.236513	0.22068	N	0.065067	T	0.48822	0.1521	M	0.68952	2.095	0.20821	N	0.999841	P;P	0.37997	0.56;0.614	B;B	0.34346	0.112;0.18	T	0.40887	-0.9539	10	0.41790	T	0.15	.	6.5739	0.22553	0.0:0.7137:0.1833:0.103	.	1545;1545	F5H0T8;Q9Y493	.;ZAN_HUMAN	L	1545;1545;1545;122	ENSP00000445943:S1545L;ENSP00000445091:S1545L;ENSP00000444427:S1545L;ENSP00000441117:S122L	ENSP00000423579:S1545L	S	+	2	0	ZAN	100202590	0.000000	0.05858	0.009000	0.14445	0.048000	0.14542	0.522000	0.22909	0.577000	0.29470	0.556000	0.70494	TCG		0.607	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386	
REPIN1	29803	broad.mit.edu	37	7	150069247	150069247	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr7:150069247A>G	ENST00000425389.2	+	1	995	c.917A>G	c.(916-918)aAc>aGc	p.N306S	REPIN1_ENST00000489432.2_Missense_Mutation_p.N363S|REPIN1_ENST00000444957.1_Missense_Mutation_p.N306S|REPIN1_ENST00000397281.2_Missense_Mutation_p.N306S|REPIN1_ENST00000479668.1_3'UTR|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000540729.1_Missense_Mutation_p.N306S	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	306					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CACAAACCCAACCTGCTGTCT	0.672																																						uc010lpq.1																			0				pancreas(1)	1						c.(916-918)AAC>AGC		replication initiator 1 isoform 1							11.0	14.0	13.0					7																	150069247		2118	4244	6362	SO:0001583	missense	29803				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding	g.chr7:150069247A>G	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"""Zinc fingers, C2H2-type"""	17922	protein-coding gene	gene with protein product	"""replication initiation region protein (60kD)"", ""zinc finger protein AP4"", ""zinc finger protein 464 (RIP60)"""		"""zinc finger protein 464 (RIP60)"""	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.917A>G	7.37:g.150069247A>G	ENSP00000388287:p.Asn306Ser					REPIN1_uc003whd.2_Missense_Mutation_p.N295S|REPIN1_uc010lpr.1_Missense_Mutation_p.N363S|REPIN1_uc003whc.2_Missense_Mutation_p.N306S|REPIN1_uc003whe.2_Missense_Mutation_p.N306S	p.N306S	NM_013400	NP_037532	Q9BWE0	REPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		4	1406	+	Ovarian(565;0.183)|Melanoma(164;0.226)		306			C2H2-type 8.		C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Missense_Mutation	SNP	ENST00000425389.2	37	c.917A>G	CCDS43677.1	.	.	.	.	.	.	.	.	.	.	A	14.21	2.468829	0.43839	.	.	ENSG00000214022	ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000475514;ENST00000488943;ENST00000425389	T;T;T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22;0.22;0.22	4.91	3.77	0.43336	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48642	0.1511	N	0.08118	0	0.80722	D	1	D;D	0.71674	0.987;0.998	P;D	0.72625	0.772;0.978	T	0.43845	-0.9366	9	0.08381	T	0.77	-18.6697	8.4241	0.32718	0.9077:0.0:0.0923:0.0	.	363;306	C9J3L7;Q9BWE0	.;REPI1_HUMAN	S	306;306;306;363;365;366;306	ENSP00000445016:N306S;ENSP00000380451:N306S;ENSP00000407714:N306S;ENSP00000417291:N363S;ENSP00000419789:N365S;ENSP00000419872:N366S;ENSP00000388287:N306S	ENSP00000380451:N306S	N	+	2	0	REPIN1	149700180	0.000000	0.05858	1.000000	0.80357	0.990000	0.78478	-0.056000	0.11787	0.917000	0.36895	0.379000	0.24179	AAC		0.672	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	NM_014374	
ATP6V1C1	528	broad.mit.edu	37	8	104064965	104064965	+	Missense_Mutation	SNP	A	A	C			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr8:104064965A>C	ENST00000395862.3	+	6	547	c.388A>C	c.(388-390)Act>Cct	p.T130P	ATP6V1C1_ENST00000521514.1_Missense_Mutation_p.T55P|ATP6V1C1_ENST00000518738.1_Missense_Mutation_p.T130P|ATP6V1C1_ENST00000518857.1_Missense_Mutation_p.T55P	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1	130					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			AAAGGGAGTAACTCAGATTGA	0.318																																						uc003ykz.3																			0					0						c.(388-390)ACT>CCT		ATPase, H+ transporting, lysosomal V1 subunit							74.0	80.0	78.0					8																	104064965		2203	4299	6502	SO:0001583	missense	528				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr8:104064965A>C	X69151	CCDS6296.1	8p22.3	2011-05-24	2006-01-13	2002-05-10	ENSG00000155097	ENSG00000155097	3.6.3.14	"""ATPases / V-type"""	856	protein-coding gene	gene with protein product		603097	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 42kD"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C, isoform 1"""	ATP6D, ATP6C		8250920, 14580332	Standard	NM_001695		Approved	VATC, Vma5	uc003ykz.4	P21283	OTTHUMG00000164761	ENST00000395862.3:c.388A>C	8.37:g.104064965A>C	ENSP00000379203:p.Thr130Pro					ATP6V1C1_uc010mbz.2_Missense_Mutation_p.T55P|ATP6V1C1_uc003yla.2_Missense_Mutation_p.T130P|ATP6V1C1_uc011lhl.1_Missense_Mutation_p.T55P	p.T130P	NM_001695	NP_001686	P21283	VATC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)		6	633	+	Lung NSC(17;0.000427)|all_lung(17;0.000533)		130						Missense_Mutation	SNP	ENST00000395862.3	37	c.388A>C	CCDS6296.1	.	.	.	.	.	.	.	.	.	.	A	18.48	3.633327	0.67015	.	.	ENSG00000155097	ENST00000518857;ENST00000395862;ENST00000521514;ENST00000518738	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.75	5.75	0.90469	.	0.243808	0.46758	D	0.000280	T	0.52917	0.1764	M	0.80183	2.485	0.45899	D	0.998747	P	0.37573	0.6	B	0.41813	0.367	T	0.55976	-0.8055	10	0.44086	T	0.13	.	16.1014	0.81175	1.0:0.0:0.0:0.0	.	130	P21283	VATC1_HUMAN	P	55;130;55;130	ENSP00000428204:T55P;ENSP00000379203:T130P;ENSP00000430129:T55P;ENSP00000430282:T130P	ENSP00000379203:T130P	T	+	1	0	ATP6V1C1	104134141	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.658000	0.68003	2.208000	0.71279	0.456000	0.33151	ACT		0.318	ATP6V1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380101.1	NM_001695	
TONSL	4796	broad.mit.edu	37	8	145654644	145654644	+	Frame_Shift_Del	DEL	C	C	-			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr8:145654644delC	ENST00000409379.3	-	26	4048	c.4019delG	c.(4018-4020)tgcfs	p.C1340fs	VPS28_ENST00000526054.1_5'Flank|VPS28_ENST00000526734.1_5'Flank|VPS28_ENST00000292510.4_5'Flank|VPS28_ENST00000377348.2_5'Flank|VPS28_ENST00000529182.1_5'Flank	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1340					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GCGTCTGCTGCACAGCTGCAG	0.721																																						uc011llg.1																			0					0						c.(4018-4020)TGCfs		NF-kappa-B inhibitor-like protein 2							10.0	10.0	10.0					8																	145654644		2087	4079	6166	SO:0001589	frameshift_variant	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145654644delC		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.4019delG	8.37:g.145654644delC	ENSP00000386239:p.Cys1340fs					VPS28_uc003zcr.1_5'Flank|VPS28_uc003zcs.1_5'Flank|VPS28_uc003zct.1_5'Flank	p.C1340fs	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		26	4034	-	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1340			LRR 7.		B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Frame_Shift_Del	DEL	ENST00000409379.3	37	c.4019delG	CCDS34968.2																																																																																				0.721	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432	
NAA35	60560	broad.mit.edu	37	9	88576949	88576950	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr9:88576949_88576950delTC	ENST00000361671.5	+	6	503_504	c.370_371delTC	c.(370-372)tcafs	p.S124fs	NAA35_ENST00000376040.1_Frame_Shift_Del_p.S124fs	NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	124					negative regulation of apoptotic process (GO:0043066)|smooth muscle cell proliferation (GO:0048659)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						AGAAGGCCATTCACTGGCACAG	0.366																																						uc004aoi.3																			0				skin(2)|central_nervous_system(1)	3						c.(370-372)TCAfs		corneal wound healing-related protein																																				SO:0001589	frameshift_variant	60560				smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane		g.chr9:88576949_88576950delTC	AK025266	CCDS6673.1	9q22.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000135040	ENSG00000135040		"""N(alpha)-acetyltransferase subunits"""	24340	protein-coding gene	gene with protein product			"""MAK10 homolog, amino-acid N-acetyltransferase subunit (S. cerevisiae)"""	MAK10		14702039, 19660095	Standard	NM_024635		Approved	FLJ21613, FLJ22643, bA379P1.1	uc004aoi.4	Q5VZE5	OTTHUMG00000020131	ENST00000361671.5:c.370_371delTC	9.37:g.88576949_88576950delTC	ENSP00000354972:p.Ser124fs					NAA35_uc004aoj.3_Frame_Shift_Del_p.S124fs|NAA35_uc004aok.1_Frame_Shift_Del_p.S124fs	p.S124fs	NM_024635	NP_078911	Q5VZE5	NAA35_HUMAN			6	507_508	+			124					Q5VZE6|Q9H631|Q9H703	Frame_Shift_Del	DEL	ENST00000361671.5	37	c.370_371delTC	CCDS6673.1																																																																																				0.366	NAA35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052906.1	NM_024635	
RXRA	6256	broad.mit.edu	37	9	137309042	137309042	+	Nonsense_Mutation	SNP	G	G	T			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr9:137309042G>T	ENST00000481739.1	+	5	701	c.649G>T	c.(649-651)Gag>Tag	p.E217*	RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000540193.1_Nonsense_Mutation_p.E120*	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	217	Hinge.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	GGACCGGAACGAGAATGAGGT	0.677																																						uc004cfb.2																			0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(649-651)GAG>TAG		retinoid X receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)						117.0	90.0	99.0					9																	137309042		2203	4300	6503	SO:0001587	stop_gained	6256				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	g.chr9:137309042G>T	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"""Nuclear hormone receptors"""	10477	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 1"""	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.649G>T	9.37:g.137309042G>T	ENSP00000419692:p.Glu217*					RXRA_uc004cfc.1_Nonsense_Mutation_p.E120*|RXRA_uc004cfd.1_5'UTR	p.E217*	NM_002957	NP_002948	P19793	RXRA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	5	811	+			217			Hinge.		B3KY83|Q2NL52|Q2V504	Nonsense_Mutation	SNP	ENST00000481739.1	37	c.649G>T	CCDS35172.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377302	0.82682	.	.	ENSG00000186350	ENST00000481739;ENST00000540193	.	.	.	4.53	4.53	0.55603	.	0.061993	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	17.6196	0.88077	0.0:0.0:1.0:0.0	.	.	.	.	X	217;120	.	ENSP00000419692:E217X	E	+	1	0	RXRA	136448863	1.000000	0.71417	0.030000	0.17652	0.009000	0.06853	9.329000	0.96413	2.199000	0.70637	0.462000	0.41574	GAG		0.677	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1	NM_002957	
KDM6A	7403	broad.mit.edu	37	X	44923045	44923048	+	Frame_Shift_Del	DEL	CTAT	CTAT	-	rs398122969		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chrX:44923045_44923048delCTAT	ENST00000377967.4	+	16	1947_1950	c.1906_1909delCTAT	c.(1906-1911)ctatctfs	p.LS636fs	KDM6A_ENST00000382899.4_Frame_Shift_Del_p.LS643fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.LS591fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.LS557fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	636	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GAAAAACCAACTATCTAACTCCAC	0.446			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	uc004dge.3				Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		8	Whole gene deletion(6)|No detectable mRNA/protein(2)		haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|breast(2)|pancreas(2)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.(1906-1911)CTATCTfs		ubiquitously transcribed tetratricopeptide																																				SO:0001589	frameshift_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44923045_44923048delCTAT	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.1906_1909delCTAT	X.37:g.44923045_44923048delCTAT	ENSP00000367203:p.Leu636fs					KDM6A_uc010nhk.2_Frame_Shift_Del_p.L602fs|KDM6A_uc011mkz.1_Frame_Shift_Del_p.L688fs|KDM6A_uc011mla.1_Frame_Shift_Del_p.L591fs|KDM6A_uc011mlb.1_Frame_Shift_Del_p.L643fs|KDM6A_uc011mlc.1_Frame_Shift_Del_p.L340fs|KDM6A_uc011mld.1_Frame_Shift_Del_p.L275fs	p.L636fs	NM_021140	NP_066963	O15550	KDM6A_HUMAN			16	2281_2284	+			636_637					Q52LL9|Q5JVQ7	Frame_Shift_Del	DEL	ENST00000377967.4	37	c.1906_1909delCTAT	CCDS14265.1																																																																																				0.446	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140	
H2BFM	286436	broad.mit.edu	37	X	103294801	103294801	+	Frame_Shift_Del	DEL	T	T	-			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chrX:103294801delT	ENST00000355016.3	+	1	286	c.258delT	c.(256-258)gatfs	p.D86fs	H2BFM_ENST00000243297.5_Frame_Shift_Del_p.D189fs	NM_001164416.1	NP_001157888.1	P0C1H6	H2BFM_HUMAN	H2B histone family, member M	86						nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(1)|ovary(1)	3						GTGTCATGGATTCTATGATCC	0.602																																						uc004els.1																			0				ovary(1)	1						c.(256-258)GATfs		RecName: Full=Histone H2B type F-M; AltName: Full=H2B.s; AltName: Full=H2B/s;							31.0	32.0	32.0					X																	103294801		692	1591	2283	SO:0001589	frameshift_variant	286436							g.chrX:103294801delT	AK093522	CCDS55468.1	Xq22.2	2011-01-27			ENSG00000101812	ENSG00000101812		"""Histones / Replication-independent"""	27867	protein-coding gene	gene with protein product							Standard	NM_001164416		Approved		uc004els.2	P0C1H6	OTTHUMG00000022122	ENST00000355016.3:c.258delT	X.37:g.103294801delT	ENSP00000347119:p.Asp86fs						p.D86fs							1	286	+								A6NP82	Frame_Shift_Del	DEL	ENST00000355016.3	37	c.258delT	CCDS55468.1																																																																																				0.602	H2BFM-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057758.2	XM_210048	
