#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	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
STK16	8576	broad.mit.edu	37	2	220111842	220111842	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr2:220111842C>T	ENST00000409638.3	+	4	486	c.314C>T	c.(313-315)aCg>aTg	p.T105M	GLB1L_ENST00000295759.7_5'Flank|GLB1L_ENST00000392089.2_5'Flank|STK16_ENST00000409516.3_Intron|STK16_ENST00000409743.1_Missense_Mutation_p.T105M|STK16_ENST00000396738.2_Missense_Mutation_p.T105M|GLB1L_ENST00000356283.3_5'Flank|STK16_ENST00000409260.1_Missense_Mutation_p.T150M|STK16_ENST00000486813.1_3'UTR	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN	serine/threonine kinase 16	105	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|protein autophosphorylation (GO:0046777)	Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGAGAGGTACGCTGTGGAAT	0.517																																					Pancreas(34;887 922 17165 36961 39622)	ENST00000409638.3																			0				skin(1)	1						c.(313-315)aCg>aTg		serine/threonine kinase 16							74.0	77.0	76.0					2																	220111842		2015	4169	6184	SO:0001583	missense	8576				protein complex assembly	membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:220111842C>T	AF060798	CCDS42822.1	2q35	2010-04-16			ENSG00000115661	ENSG00000115661			11394	protein-coding gene	gene with protein product		604719				9712705	Standard	NM_001008910		Approved	PKL12, MPSK	uc002vko.2	O75716	OTTHUMG00000154520	ENST00000409638.3:c.314C>T	2.37:g.220111842C>T	ENSP00000386928:p.Thr105Met					STK16_ENST00000396738.2_Missense_Mutation_p.T105M|STK16_ENST00000409516.3_Intron|STK16_ENST00000409743.1_Missense_Mutation_p.T105M|STK16_ENST00000486813.1_3'UTR|STK16_ENST00000409260.1_Missense_Mutation_p.T150M	p.T105M	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	486	+		Renal(207;0.0474)	105			Protein kinase.		A8K9H9|Q5U0F8|Q96KI2|Q9BUH4|Q9UEN3|Q9UP78	Missense_Mutation	SNP	ENST00000409638.3	37	c.314C>T	CCDS42822.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.314241	0.60414	.	.	ENSG00000115661	ENST00000409638;ENST00000396738;ENST00000409260;ENST00000409743	T;T;T;T	0.75589	1.97;1.97;-0.95;1.97	5.38	5.38	0.77491	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.100958	0.64402	D	0.000003	D	0.87446	0.6179	M	0.81239	2.535	0.58432	D	0.999993	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.993;0.998;0.994	D	0.88680	0.3201	10	0.72032	D	0.01	-11.0117	19.1434	0.93455	0.0:1.0:0.0:0.0	.	105;105;150;105	B4DXY6;B8ZZI5;B8ZZN3;O75716	.;.;.;STK16_HUMAN	M	105;105;150;105	ENSP00000386928:T105M;ENSP00000379964:T105M;ENSP00000387156:T150M;ENSP00000386553:T105M	ENSP00000379964:T105M	T	+	2	0	STK16	219820086	0.999000	0.42202	0.999000	0.59377	0.994000	0.84299	3.807000	0.55591	2.527000	0.85204	0.655000	0.94253	ACG		0.517	STK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335679.1			23	20	0	0	0	1	0	23	20				
AR	367	broad.mit.edu	37	X	66765123	66765123	+	Silent	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chrX:66765123G>A	ENST00000374690.3	+	1	659	c.135G>A	c.(133-135)gcG>gcA	p.A45A	AR_ENST00000504326.1_Silent_p.A45A|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Silent_p.A45A	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	45	Modulating.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	CAGAGGCCGCGAGCGCAGCAC	0.672									Androgen Insensitivity Syndrome																													ENST00000374690.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67						c.(133-135)gcG>gcA		androgen receptor	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						25.0	28.0	27.0					X																	66765123		2203	4300	6503	SO:0001819	synonymous_variant	367	Androgen Insensitivity Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66765123G>A	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.135G>A	X.37:g.66765123G>A						AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Silent_p.A45A|AR_ENST00000504326.1_Silent_p.A45A	p.A45A	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN			1	659	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	45			Modulating.		A2RUN2|B1AKD7|Q9UD95	Silent	SNP	ENST00000374690.3	37	c.135G>A	CCDS14387.1																																																																																				0.672	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		4	91	0	0	0	1	0	4	91				
LRRK1	79705	broad.mit.edu	37	15	101569222	101569222	+	Silent	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr15:101569222G>A	ENST00000388948.3	+	20	3107	c.2748G>A	c.(2746-2748)ctG>ctA	p.L916L	LRRK1_ENST00000284395.5_Silent_p.L913L	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCCACGGCCTGAGGAACCTCT	0.547																																						ENST00000284395.5																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(2737-2739)ctG>ctA		leucine-rich repeat kinase 1							94.0	99.0	97.0					15																	101569222		1924	4134	6058	SO:0001819	synonymous_variant	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101569222G>A	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.2748G>A	15.37:g.101569222G>A						LRRK1_ENST00000388948.3_Silent_p.L916L	p.L913L			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		21	3139	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		916						Silent	SNP	ENST00000388948.3	37	c.2739G>A	CCDS42086.1																																																																																				0.547	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		62	142	0	0	0	1	0	62	142				
SPACA1	81833	broad.mit.edu	37	6	88767395	88767395	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr6:88767395C>T	ENST00000237201.1	+	3	448	c.331C>T	c.(331-333)Cgg>Tgg	p.R111W		NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	111					acrosome assembly (GO:0001675)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		GTGTGTTGTACGGGTAGAAGA	0.393																																						ENST00000237201.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20						c.(331-333)Cgg>Tgg		sperm acrosome associated 1							118.0	118.0	118.0					6																	88767395		2203	4300	6503	SO:0001583	missense	81833					integral to membrane		g.chr6:88767395C>T	AF203447	CCDS5014.1	6q15	2012-09-20			ENSG00000118434	ENSG00000118434			14967	protein-coding gene	gene with protein product		612739					Standard	NM_030960		Approved	SAMP32	uc003pmn.3	Q9HBV2	OTTHUMG00000015183	ENST00000237201.1:c.331C>T	6.37:g.88767395C>T	ENSP00000237201:p.Arg111Trp						p.R111W	NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.11)	3	448	+		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	111						Missense_Mutation	SNP	ENST00000237201.1	37	c.331C>T	CCDS5014.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.917418	0.33815	.	.	ENSG00000118434	ENST00000237201	T	0.25414	1.8	5.56	4.64	0.57946	.	0.000000	0.64402	D	0.000012	T	0.29588	0.0738	M	0.67953	2.075	0.20196	N	0.99993	D	0.89917	1.0	D	0.87578	0.998	T	0.25502	-1.0130	10	0.87932	D	0	-15.0309	5.2854	0.15698	0.1805:0.6134:0.1305:0.0756	.	111	Q9HBV2	SACA1_HUMAN	W	111	ENSP00000237201:R111W	ENSP00000237201:R111W	R	+	1	2	SPACA1	88824114	0.078000	0.21339	0.647000	0.29507	0.037000	0.13140	0.661000	0.25023	1.308000	0.44962	0.655000	0.94253	CGG		0.393	SPACA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041459.1			18	41	0	0	0	1	0	18	41				
CD1E	913	broad.mit.edu	37	1	158325766	158325766	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr1:158325766G>A	ENST00000368167.3	+	4	1014	c.775G>A	c.(775-777)Gtc>Atc	p.V259I	CD1E_ENST00000434258.1_Missense_Mutation_p.V257I|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368156.1_Missense_Mutation_p.V169I|CD1E_ENST00000368165.3_Missense_Mutation_p.V169I|CD1E_ENST00000444681.2_Missense_Mutation_p.V160I|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368164.3_Missense_Mutation_p.V70I|CD1E_ENST00000368161.3_Missense_Mutation_p.V259I|CD1E_ENST00000368160.3_Missense_Mutation_p.V259I|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368166.3_Missense_Mutation_p.V70I|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000452291.2_Missense_Mutation_p.V70I	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	259	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GCGAGGGGACGTCCTGCCTAA	0.612																																						ENST00000444681.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(478-480)Gtc>Atc		CD1e molecule							115.0	111.0	112.0					1																	158325766		2203	4300	6503	SO:0001583	missense	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158325766G>A	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.775G>A	1.37:g.158325766G>A	ENSP00000357149:p.Val259Ile					CD1E_ENST00000368160.3_Missense_Mutation_p.V259I|CD1E_ENST00000368156.1_Missense_Mutation_p.V169I|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.V259I|CD1E_ENST00000368165.3_Missense_Mutation_p.V169I|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368167.3_Missense_Mutation_p.V259I|CD1E_ENST00000434258.1_Missense_Mutation_p.V257I|CD1E_ENST00000368166.3_Missense_Mutation_p.V70I|CD1E_ENST00000368164.3_Missense_Mutation_p.V70I|CD1E_ENST00000452291.2_Missense_Mutation_p.V70I	p.V160I	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN			3	771	+	all_hematologic(112;0.0378)		259					B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	ENST00000368167.3	37	c.478G>A	CCDS41417.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.022|0.022	-1.414431|-1.414431	0.01145|0.01145	.|.	.|.	ENSG00000158488|ENSG00000158488	ENST00000368162|ENST00000434258;ENST00000444681;ENST00000368167;ENST00000452291;ENST00000368165;ENST00000368166;ENST00000368164;ENST00000368160;ENST00000368161;ENST00000368156	.|T;T;T;T;T;T;T;T;T;T	.|0.13657	.|2.57;2.57;2.57;2.57;2.61;2.57;4.15;2.57;4.15;2.61	4.6|4.6	-9.2|-9.2	0.00682|0.00682	.|Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	.|1.589140	.|0.03737	.|N	.|0.254458	T|T	0.00695|0.00695	0.0023|0.0023	N|N	0.03881|0.03881	-0.34|-0.34	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B;B;B;B;B;B;B;B;B	.|0.27625	.|0.006;0.067;0.006;0.001;0.0;0.001;0.002;0.183;0.0;0.001;0.009;0.002;0.002	.|B;B;B;B;B;B;B;B;B;B;B;B;B	.|0.19391	.|0.017;0.017;0.009;0.002;0.004;0.008;0.003;0.025;0.002;0.004;0.013;0.001;0.003	T|T	0.31447|0.31447	-0.9943|-0.9943	5|10	.|0.06236	.|T	.|0.91	-0.7914|-0.7914	1.0676|1.0676	0.01614|0.01614	0.3482:0.2693:0.2121:0.1705|0.3482:0.2693:0.2121:0.1705	.|.	.|70;160;257;259;160;169;70;70;259;259;259;70;169	.|B4E057;B4E042;E7ET31;A2RRL5;E7EP01;P15812-5;P15812-9;P15812-10;P15812-2;P15812;P15812-3;P15812-8;P15812-6	.|.;.;.;.;.;.;.;.;.;CD1E_HUMAN;.;.;.	H|I	28|257;160;259;70;169;70;70;259;259;169	.|ENSP00000401957:V257I;ENSP00000402906:V160I;ENSP00000357149:V259I;ENSP00000416228:V70I;ENSP00000357147:V169I;ENSP00000357148:V70I;ENSP00000357146:V70I;ENSP00000357142:V259I;ENSP00000357143:V259I;ENSP00000357138:V169I	.|ENSP00000357138:V169I	R|V	+|+	2|1	0|0	CD1E|CD1E	156592390|156592390	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.016000|0.016000	0.09150|0.09150	-2.811000|-2.811000	0.00755|0.00755	-2.730000|-2.730000	0.00384|0.00384	-2.589000|-2.589000	0.00165|0.00165	CGT|GTC		0.612	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		23	119	0	0	0	1	0	23	119				
NEDD4L	23327	broad.mit.edu	37	18	56033442	56033442	+	Missense_Mutation	SNP	T	T	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr18:56033442T>A	ENST00000400345.3	+	21	2328	c.2045T>A	c.(2044-2046)cTc>cAc	p.L682H	NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000256830.9_Missense_Mutation_p.L578H|NEDD4L_ENST00000431212.2_Missense_Mutation_p.L561H|NEDD4L_ENST00000456173.2_Missense_Mutation_p.L541H|NEDD4L_ENST00000456986.1_Missense_Mutation_p.L561H|NEDD4L_ENST00000435432.2_Missense_Mutation_p.L541H|NEDD4L_ENST00000256832.7_Missense_Mutation_p.L542H|NEDD4L_ENST00000382850.4_Missense_Mutation_p.L662H|NEDD4L_ENST00000356462.6_Missense_Mutation_p.L618H|NEDD4L_ENST00000357895.5_Missense_Mutation_p.L674H|NEDD4L_ENST00000586263.1_Missense_Mutation_p.L654H	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	682	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						TACTACGGCCTCTTTGAGTAC	0.458																																						ENST00000456986.1																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						c.(1681-1683)cTc>cAc		neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase							74.0	65.0	68.0					18																	56033442		1866	4105	5971	SO:0001583	missense	23327				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	g.chr18:56033442T>A	AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.2045T>A	18.37:g.56033442T>A	ENSP00000383199:p.Leu682His					NEDD4L_ENST00000256830.9_Missense_Mutation_p.L578H|NEDD4L_ENST00000435432.2_Missense_Mutation_p.L541H|NEDD4L_ENST00000400345.3_Missense_Mutation_p.L682H|NEDD4L_ENST00000356462.6_Missense_Mutation_p.L618H|NEDD4L_ENST00000431212.2_Missense_Mutation_p.L561H|NEDD4L_ENST00000456173.2_Missense_Mutation_p.L541H|NEDD4L_ENST00000586263.1_Missense_Mutation_p.L654H|NEDD4L_ENST00000382850.4_Missense_Mutation_p.L662H|NEDD4L_ENST00000256832.7_Missense_Mutation_p.L542H|NEDD4L_ENST00000357895.5_Missense_Mutation_p.L674H|NEDD4L_ENST00000589054.1_Intron	p.L561H	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN			21	2282	+			682			WW 4.		O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Missense_Mutation	SNP	ENST00000400345.3	37	c.1682T>A	CCDS45872.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.632625	0.87660	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000256832;ENST00000456986;ENST00000357895;ENST00000435432;ENST00000456173;ENST00000431212	T;T;T;T;T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19	5.68	5.68	0.88126	HECT (4);	0.000000	0.85682	D	0.000000	D	0.88276	0.6393	H	0.99225	4.475	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.999;0.997;1.0;1.0	D	0.93178	0.6572	10	0.87932	D	0	.	16.2322	0.82352	0.0:0.0:0.0:1.0	.	654;674;541;618;682;662	Q96PU5-6;Q96PU5-7;Q3LSM7;Q96PU5-2;Q96PU5;Q96PU5-5	.;.;.;.;NED4L_HUMAN;.	H	682;662;618;578;542;561;674;541;541;561	ENSP00000383199:L682H;ENSP00000372301:L662H;ENSP00000348847:L618H;ENSP00000256830:L578H;ENSP00000256832:L542H;ENSP00000411947:L561H;ENSP00000350569:L674H;ENSP00000393395:L541H;ENSP00000405440:L541H;ENSP00000389406:L561H	ENSP00000256830:L578H	L	+	2	0	NEDD4L	54184422	1.000000	0.71417	0.994000	0.49952	0.979000	0.70002	7.997000	0.88414	2.288000	0.76882	0.528000	0.53228	CTC		0.458	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			5	11	0	0	0	1	0	5	11				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000402731.1_Silent_p.S343S			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		6	80	0	0	0	1	0	6	80				
RBP7	116362	broad.mit.edu	37	1	10067753	10067753	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr1:10067753G>A	ENST00000294435.7	+	2	242	c.199G>A	c.(199-201)Gtt>Att	p.V67I		NM_052960.2	NP_443192.1	Q96R05	RET7_HUMAN	retinol binding protein 7, cellular	67						cytoplasm (GO:0005737)	retinal binding (GO:0016918)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(1)	2		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|BRCA - Breast invasive adenocarcinoma(304;0.000302)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00856)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	GAAATTTAAAGTTGGAGAAGA	0.418																																						ENST00000294435.7																			0				endometrium(1)|large_intestine(1)	2						c.(199-201)Gtt>Att		retinol binding protein 7, cellular	Vitamin A(DB00162)						69.0	70.0	70.0					1																	10067753		2203	4300	6503	SO:0001583	missense	116362					cytoplasm	retinal binding|retinol binding|transporter activity	g.chr1:10067753G>A	AF399927	CCDS109.1	1p36.22	2013-03-01			ENSG00000162444	ENSG00000162444		"""Fatty acid binding protein family"""	30316	protein-coding gene	gene with protein product		608604				12177003	Standard	NM_052960		Approved	CRBPIV	uc001aqq.3	Q96R05	OTTHUMG00000001798	ENST00000294435.7:c.199G>A	1.37:g.10067753G>A	ENSP00000294435:p.Val67Ile						p.V67I	NM_052960.2	NP_443192.1	Q96R05	RET7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|BRCA - Breast invasive adenocarcinoma(304;0.000302)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00856)|READ - Rectum adenocarcinoma(331;0.0419)	2	242	+		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	67					B2R517|Q5SWJ4	Missense_Mutation	SNP	ENST00000294435.7	37	c.199G>A	CCDS109.1	.	.	.	.	.	.	.	.	.	.	G	6.551	0.469951	0.12461	.	.	ENSG00000162444	ENST00000315901;ENST00000294435	T	0.07567	3.18	4.34	2.46	0.29980	Calycin-like (1);Cytosolic fatty-acid binding (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.435558	0.19638	N	0.109512	T	0.05135	0.0137	N	0.13235	0.315	0.22873	N	0.998626	B	0.13145	0.007	B	0.18263	0.021	T	0.41179	-0.9523	10	0.27785	T	0.31	.	9.9221	0.41470	0.3002:0.0:0.6998:0.0	.	67	Q96R05	RET7_HUMAN	I	114;67	ENSP00000294435:V67I	ENSP00000294435:V67I	V	+	1	0	RBP7	9990340	0.274000	0.24191	0.334000	0.25495	0.844000	0.47949	0.541000	0.23207	0.136000	0.18733	-0.797000	0.03246	GTT		0.418	RBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005027.2	NM_052960		4	46	0	0	0	1	0	4	46				
BCKDHA	593	broad.mit.edu	37	19	41932148	41932148	+	IGR	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr19:41932148C>T	ENST00000269980.2	+	0	2103				B3GNT8_ENST00000601379.1_5'UTR|B3GNT8_ENST00000321702.2_Missense_Mutation_p.R179Q|CTC-435M10.6_ENST00000598887.1_RNA	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide						branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						GAAGAGCAGCCGGATCCCTGG	0.637																																						ENST00000321702.2																			0				cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)	11						c.(535-537)cGg>cAg		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8							63.0	68.0	66.0					19																	41932148		2203	4300	6503	SO:0001628	intergenic_variant	374907				poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity	g.chr19:41932148C>T	J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	608348	"""branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)"", ""2-oxoisovalerate dehydrogenase (lipoamide)"""	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128		19.37:g.41932148C>T						B3GNT8_ENST00000601379.1_5'UTR	p.R179Q	NM_198540.2	NP_940942.1	Q7Z7M8	B3GN8_HUMAN			3	989	-			179					B4DP47|E7EW46|Q16034|Q16472	Missense_Mutation	SNP	ENST00000269980.2	37	c.536G>A	CCDS12581.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.330286	0.81690	.	.	ENSG00000177191	ENST00000321702	T	0.40476	1.03	4.14	4.14	0.48551	.	0.068893	0.56097	D	0.000024	T	0.57888	0.2084	L	0.58510	1.815	0.58432	D	0.999999	D	0.89917	1.0	D	0.72982	0.979	T	0.53180	-0.8475	10	0.23891	T	0.37	.	15.6907	0.77450	0.0:1.0:0.0:0.0	.	179	Q7Z7M8	B3GN8_HUMAN	Q	179	ENSP00000312700:R179Q	ENSP00000312700:R179Q	R	-	2	0	B3GNT8	46623988	0.769000	0.28531	0.971000	0.41717	0.920000	0.55202	1.822000	0.39052	2.316000	0.78162	0.407000	0.27541	CGG		0.637	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3	NM_000709		40	62	0	0	0	1	0	40	62				
MOB1A	55233	broad.mit.edu	37	2	74399773	74399773	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr2:74399773G>C	ENST00000396049.4	-	2	314	c.121C>G	c.(121-123)Ctg>Gtg	p.L41V	MOB1A_ENST00000497054.1_5'UTR|MOB1A_ENST00000409969.2_Missense_Mutation_p.L41V	NM_018221.3	NP_060691.2	Q9H8S9	MOB1A_HUMAN	MOB kinase activator 1A	41					hippo signaling (GO:0035329)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)										GCTTGTCTCAGATTCCCACTT	0.388																																						ENST00000396049.3																			0											c.(121-123)Ctg>Gtg		MOB kinase activator 1A							141.0	133.0	136.0					2																	74399773		1899	4126	6025	SO:0001583	missense	55233				hippo signaling cascade		metal ion binding|protein binding	g.chr2:74399773G>C		CCDS46340.1	2p13.1	2011-09-28	2011-09-28	2011-09-27	ENSG00000114978	ENSG00000114978		"""MOB kinase activators"""	16015	protein-coding gene	gene with protein product		609281	"""chromosome 2 open reading frame 6"", ""MOB1, Mps One Binder kinase activator-like 1B (yeast)"", ""MOB1 Mps One Binder homolog A (yeast)"""	C2orf6, MOBK1B, MOBKL1B		11319234, 20624913	Standard	NM_018221		Approved	FLJ10788, MOB1, FLJ11595, Mob4B, Mats1	uc002skh.4	Q9H8S9	OTTHUMG00000152833	ENST00000396049.4:c.121C>G	2.37:g.74399773G>C	ENSP00000379364:p.Leu41Val					MOB1A_ENST00000497054.1_5'UTR|MOB1A_ENST00000409969.2_Missense_Mutation_p.L41V	p.L41V	NM_018221.3	NP_060691.2	Q9H8S9	MOL1B_HUMAN			2	314	-			41					Q53S34|Q9H3T5|Q9HAI0|Q9NVE2	Missense_Mutation	SNP	ENST00000396049.4	37	c.121C>G	CCDS46340.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283392	0.80803	.	.	ENSG00000114978	ENST00000396049;ENST00000409969	.	.	.	4.58	3.71	0.42584	.	0.000000	0.64402	D	0.000001	T	0.76033	0.3931	M	0.89414	3.03	0.58432	D	0.999999	P;D	0.57571	0.857;0.98	B;P	0.56127	0.382;0.792	T	0.79771	-0.1663	9	0.72032	D	0.01	.	10.4399	0.44460	0.0954:0.0:0.9046:0.0	.	41;41	Q9H8S9-2;Q9H8S9	.;MOB1A_HUMAN	V	41	.	ENSP00000379364:L41V	L	-	1	2	MOBKL1B	74253281	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.547000	0.73892	1.144000	0.42321	0.655000	0.94253	CTG		0.388	MOB1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328200.2	NM_018221		11	81	0	0	0	1	0	11	81				
DOPEY2	9980	broad.mit.edu	37	21	37618699	37618699	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr21:37618699G>C	ENST00000399151.3	+	19	4506	c.4421G>C	c.(4420-4422)aGa>aCa	p.R1474T		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1474					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GAGTGGCAGAGAGCCCTGAAC	0.647																																						ENST00000399151.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(4420-4422)aGa>aCa		dopey family member 2							32.0	32.0	32.0					21																	37618699		2202	4300	6502	SO:0001583	missense	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37618699G>C	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.4421G>C	21.37:g.37618699G>C	ENSP00000382104:p.Arg1474Thr						p.R1474T	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN			19	4506	+			1474					D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	c.4421G>C	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	G	7.084	0.570870	0.13623	.	.	ENSG00000142197	ENST00000399151	T	0.30448	1.53	5.86	-4.19	0.03835	.	0.516673	0.21846	N	0.068249	T	0.20373	0.0490	L	0.36672	1.1	0.09310	N	1	B;B	0.13145	0.007;0.004	B;B	0.17098	0.017;0.008	T	0.25433	-1.0132	10	0.17369	T	0.5	-6.3891	15.4994	0.75684	0.5672:0.0:0.4328:0.0	.	1474;1474	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	T	1474	ENSP00000382104:R1474T	ENSP00000382104:R1474T	R	+	2	0	DOPEY2	36540569	0.945000	0.32115	0.322000	0.25334	0.974000	0.67602	0.383000	0.20651	-0.713000	0.04981	-0.345000	0.07892	AGA		0.647	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		3	21	0	0	0	1	0	3	21				
ALPK2	115701	broad.mit.edu	37	18	56184211	56184211	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr18:56184211G>A	ENST00000361673.3	-	9	6082	c.5869C>T	c.(5869-5871)Cac>Tac	p.H1957Y		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1957	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ATGGCATTGTGCACCTTAAGC	0.537																																						ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(5869-5871)Cac>Tac		alpha-kinase 2							196.0	170.0	179.0					18																	56184211		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56184211G>A	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.5869C>T	18.37:g.56184211G>A	ENSP00000354991:p.His1957Tyr						p.H1957Y	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			9	6082	-			1957			Alpha-type protein kinase.		Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.5869C>T	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	G	28.6	4.933293	0.92458	.	.	ENSG00000198796	ENST00000361673	T	0.05786	3.39	5.75	5.75	0.90469	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.157393	0.44902	D	0.000418	T	0.23094	0.0558	L	0.54323	1.7	0.58432	D	0.999993	D	0.71674	0.998	D	0.81914	0.995	T	0.00027	-1.2304	10	0.56958	D	0.05	-19.105	19.5549	0.95342	0.0:0.0:1.0:0.0	.	1957	Q86TB3	ALPK2_HUMAN	Y	1957	ENSP00000354991:H1957Y	ENSP00000354991:H1957Y	H	-	1	0	ALPK2	54335191	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.400000	0.97290	2.716000	0.92895	0.655000	0.94253	CAC		0.537	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		28	112	0	0	0	1	0	28	112				
ABL1	25	broad.mit.edu	37	9	133748276	133748276	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr9:133748276A>G	ENST00000318560.5	+	6	1318	c.937A>G	c.(937-939)Atc>Gtc	p.I313V		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	313	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	CCCGTTCTATATCATCACTGA	0.557			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	ENST00000318560.5				Dom	yes		9	9q34.1	25	"""T, Mis"""	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"""BCR, ETV6, NUP214"""		"""CML, ALL, T-ALL"""		0				breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(937-939)Atc>Gtc		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						83.0	82.0	82.0					9																	133748276		2203	4300	6503	SO:0001583	missense	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133748276A>G	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.937A>G	9.37:g.133748276A>G	ENSP00000323315:p.Ile313Val						p.I313V	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	6	1318	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	313			Protein kinase.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	c.937A>G	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	A	29.9	5.042272	0.93685	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	D;D	0.83992	-1.79;-1.79	6.04	6.04	0.98038	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85965	0.5820	L	0.27944	0.81	0.80722	D	1	D;D	0.64830	0.981;0.994	D;D	0.74348	0.983;0.983	D	0.87792	0.2619	10	0.87932	D	0	.	15.7697	0.78157	1.0:0.0:0.0:0.0	.	313;350	P00519;Q59FK4	ABL1_HUMAN;.	V	128;332;313	ENSP00000361423:I332V;ENSP00000323315:I313V	ENSP00000323315:I313V	I	+	1	0	ABL1	132738097	1.000000	0.71417	0.951000	0.38953	0.842000	0.47809	9.339000	0.96797	2.317000	0.78254	0.460000	0.39030	ATC		0.557	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		26	88	0	0	0	1	0	26	88				
COL19A1	1310	broad.mit.edu	37	6	70637859	70637859	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr6:70637859C>T	ENST00000322773.4	+	5	427	c.325C>T	c.(325-327)Cga>Tga	p.R109*		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	109	Laminin G-like.			FRVRRNAKKERWFL -> ETTVPFWRFFVLET (in Ref. 6; AAA36358). {ECO:0000305}.	cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GTTTCGAGTACGAAGAAACGC	0.433																																						ENST00000322773.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(325-327)Cga>Tga		collagen, type XIX, alpha 1							132.0	131.0	131.0					6																	70637859		2203	4300	6503	SO:0001587	stop_gained	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70637859C>T		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.325C>T	6.37:g.70637859C>T	ENSP00000316030:p.Arg109*						p.R109*	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			5	427	+			109	FRVRRNAKKERWFL -> ETTVPFWRFFVLET (in Ref. 6; AAA36358).		TSP N-terminal.		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Nonsense_Mutation	SNP	ENST00000322773.4	37	c.325C>T	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.213585	0.79352	.	.	ENSG00000082293	ENST00000322773	.	.	.	5.71	1.67	0.24075	.	0.000000	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.5289	0.87808	0.5676:0.4324:0.0:0.0	.	.	.	.	X	109	.	ENSP00000316030:R109X	R	+	1	2	COL19A1	70694580	0.962000	0.33011	0.885000	0.34714	0.316000	0.28119	1.966000	0.40481	0.060000	0.16281	-0.808000	0.03180	CGA		0.433	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			22	72	0	0	0	1	0	22	72				
IRS2	8660	broad.mit.edu	37	13	110435125	110435125	+	Silent	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr13:110435125C>T	ENST00000375856.3	-	1	3790	c.3276G>A	c.(3274-3276)aaG>aaA	p.K1092K		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1092					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			CAGCTTCTGGCTTCGGGGGGG	0.677																																					Melanoma(100;613 2409 40847)	ENST00000375856.3																			0				kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19						c.(3274-3276)aaG>aaA		insulin receptor substrate 2							6.0	7.0	7.0					13																	110435125		2046	4090	6136	SO:0001819	synonymous_variant	8660				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity	g.chr13:110435125C>T	AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"""Pleckstrin homology (PH) domain containing"""	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.3276G>A	13.37:g.110435125C>T							p.K1092K	NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)		1	3790	-	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	1092					Q96RR2|Q9BZG0|Q9Y6I5	Silent	SNP	ENST00000375856.3	37	c.3276G>A	CCDS9510.1																																																																																				0.677	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1	NM_003749		8	12	0	0	0	1	0	8	12				
PGR	5241	broad.mit.edu	37	11	100998717	100998717	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr11:100998717G>A	ENST00000325455.5	-	1	2538	c.1085C>T	c.(1084-1086)gCg>gTg	p.A362V	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Missense_Mutation_p.A362V	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	362	Modulating, Pro-Rich.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	GGGCGGGTACGCGCAGTCGGG	0.692																																					Pancreas(124;2271 2354 21954 22882)	ENST00000325455.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36						c.(1084-1086)gCg>gTg		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						19.0	24.0	22.0					11																	100998717		2105	4172	6277	SO:0001583	missense	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100998717G>A	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.1085C>T	11.37:g.100998717G>A	ENSP00000325120:p.Ala362Val					PGR_ENST00000263463.5_Missense_Mutation_p.A362V|PGR_ENST00000534013.1_Intron	p.A362V	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	1	2538	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	362			Modulating, Pro-Rich.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	c.1085C>T	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.410273	0.42715	.	.	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	T;T	0.09255	3.0;3.0	4.14	4.14	0.48551	.	0.816971	0.10475	N	0.670340	T	0.10423	0.0255	L	0.54323	1.7	0.19945	N	0.999947	P;P	0.36874	0.572;0.54	B;B	0.31390	0.045;0.129	T	0.21724	-1.0237	10	0.42905	T	0.14	.	6.2945	0.21079	0.1054:0.2083:0.6862:0.0	.	362;362	Q8TDS3;P06401	.;PRGR_HUMAN	V	362	ENSP00000325120:A362V;ENSP00000263463:A362V	ENSP00000263463:A362V	A	-	2	0	PGR	100503927	.	.	0.979000	0.43373	0.966000	0.64601	.	.	1.833000	0.53350	0.462000	0.41574	GCG		0.692	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			11	59	0	0	0	1	0	11	59				
TOPORS	10210	broad.mit.edu	37	9	32543994	32543994	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr9:32543994G>A	ENST00000360538.2	-	3	645	c.529C>T	c.(529-531)Cga>Tga	p.R177*	TOPORS_ENST00000379858.1_Nonsense_Mutation_p.R112*	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	177	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TAGCGAAATCGTCGATCAGGG	0.458																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(529-531)Cga>Tga		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							151.0	127.0	135.0					9																	32543994		2203	4300	6503	SO:0001587	stop_gained	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32543994G>A	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.529C>T	9.37:g.32543994G>A	ENSP00000353735:p.Arg177*					TOPORS_ENST00000379858.1_Nonsense_Mutation_p.R112*	p.R177*	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	645	-			177			E3 ubiquitin-protein ligase activity.|Required for DNA-binding.		O43273|Q6P987|Q9NS55|Q9UNR9	Nonsense_Mutation	SNP	ENST00000360538.2	37	c.529C>T	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084900	0.55861	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	.	.	.	5.33	0.443	0.16587	.	0.000000	0.39544	N	0.001329	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5534	9.3967	0.38406	0.0:0.1109:0.2627:0.6264	.	.	.	.	X	177;112	.	ENSP00000353735:R177X	R	-	1	2	TOPORS	32533994	0.188000	0.23250	0.476000	0.27291	0.312000	0.27988	0.520000	0.22878	0.267000	0.21916	-0.165000	0.13383	CGA		0.458	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		11	88	0	0	0	1	0	11	88				
NMT1	4836	broad.mit.edu	37	17	43163883	43163883	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr17:43163883C>G	ENST00000592782.1	+	4	379	c.248C>G	c.(247-249)tCt>tGt	p.S83C	NMT1_ENST00000258960.2_Missense_Mutation_p.S83C|NMT1_ENST00000590114.1_3'UTR			P30419	NMT1_HUMAN	N-myristoyltransferase 1	83					apoptotic process (GO:0006915)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				CAGATGAACTCTTTGCCAGCA	0.473																																						ENST00000592782.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8						c.(247-249)tCt>tGt		N-myristoyltransferase 1							69.0	59.0	63.0					17																	43163883		2203	4300	6503	SO:0001583	missense	4836				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity	g.chr17:43163883C>G		CCDS11494.1	17q21.31	2012-10-02			ENSG00000136448	ENSG00000136448			7857	protein-coding gene	gene with protein product	"""alternative, short form NMT-S"", ""myristoyl-CoA:protein N-myristoyltransferase"", ""long form, NMT-L"""	160993				1570339	Standard	NM_021079		Approved	NMT	uc002ihz.3	P30419	OTTHUMG00000180003	ENST00000592782.1:c.248C>G	17.37:g.43163883C>G	ENSP00000468424:p.Ser83Cys					NMT1_ENST00000590114.1_3'UTR|NMT1_ENST00000258960.2_Missense_Mutation_p.S83C	p.S83C			P30419	NMT1_HUMAN			4	379	+		Prostate(33;0.155)	83					A8K7C1|Q9UE09	Missense_Mutation	SNP	ENST00000592782.1	37	c.248C>G	CCDS11494.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889531	0.91889	.	.	ENSG00000136448	ENST00000258960;ENST00000543908	T;T	0.49432	0.84;0.78	5.53	5.53	0.82687	.	0.054356	0.85682	D	0.000000	T	0.59715	0.2214	L	0.50333	1.59	0.80722	D	1	D	0.56746	0.977	P	0.55161	0.77	T	0.60449	-0.7261	10	0.72032	D	0.01	-10.3347	19.6556	0.95837	0.0:1.0:0.0:0.0	.	83	P30419	NMT1_HUMAN	C	83	ENSP00000258960:S83C;ENSP00000439263:S83C	ENSP00000258960:S83C	S	+	2	0	NMT1	40519409	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.583000	0.67484	2.882000	0.98803	0.655000	0.94253	TCT		0.473	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449239.1	NM_021079		3	28	0	0	0	1	0	3	28				
SLC43A3	29015	broad.mit.edu	37	11	57185284	57185284	+	Missense_Mutation	SNP	C	C	T	rs188327992	byFrequency	TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr11:57185284C>T	ENST00000395123.2	-	8	912	c.608G>A	c.(607-609)cGc>cAc	p.R203H	SLC43A3_ENST00000352187.1_Missense_Mutation_p.R203H|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000533524.1_Missense_Mutation_p.R216H|SLC43A3_ENST00000529554.1_Missense_Mutation_p.R203H|SLC43A3_ENST00000395124.1_Missense_Mutation_p.R203H	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	203					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.R203H(2)		central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						GAGGAAAGTGCGTGCTACATG	0.542													C|||	3	0.000599042	0.0	0.0043	5008	,	,		19328	0.0		0.0	False		,,,				2504	0.0					ENST00000395123.2																			2	Substitution - Missense(2)	p.R203H(2)	large_intestine(2)	central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						c.(607-609)cGc>cAc		solute carrier family 43, member 3		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4402		0,0,2201	108.0	97.0	101.0		608,608,608	5.5	0.1	11		101	3,8589	3.0+/-9.4	0,3,4293	yes	missense,missense,missense	SLC43A3	NM_014096.2,NM_017611.2,NM_199329.1	29,29,29	0,3,6494	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging,probably-damaging,probably-damaging	203/492,203/492,203/492	57185284	3,12991	2201	4296	6497	SO:0001583	missense	29015				transmembrane transport	integral to membrane		g.chr11:57185284C>T	AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"""Solute carriers"""	17466	protein-coding gene	gene with protein product	"""likely ortholog of mouse embryonic epithelial gene 1"""					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.608G>A	11.37:g.57185284C>T	ENSP00000378555:p.Arg203His					SLC43A3_ENST00000529554.1_Missense_Mutation_p.R203H|SLC43A3_ENST00000533524.1_Missense_Mutation_p.R216H|SLC43A3_ENST00000352187.1_Missense_Mutation_p.R203H|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000395124.1_Missense_Mutation_p.R203H	p.R203H	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN			8	912	-			203					B4DNR8|E7EQD2|Q9NSS4	Missense_Mutation	SNP	ENST00000395123.2	37	c.608G>A	CCDS7956.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	25.3	4.622672	0.87460	0.0	3.49E-4	ENSG00000134802	ENST00000395123;ENST00000395124;ENST00000352187;ENST00000529554;ENST00000533524;ENST00000530005	T;T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41;0.32	5.48	5.48	0.80851	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.89413	0.6708	M	0.83483	2.645	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.996;0.998;0.996	D	0.86539	0.1827	10	0.15066	T	0.55	-17.5211	17.1335	0.86733	0.0:1.0:0.0:0.0	.	203;216;203;203	B4DV87;E7EQD2;Q8NBI5;A8K2X6	.;.;S43A3_HUMAN;.	H	203;203;203;203;216;203	ENSP00000378555:R203H;ENSP00000378556:R203H;ENSP00000337561:R203H;ENSP00000436254:R203H;ENSP00000434515:R216H;ENSP00000435893:R203H	ENSP00000337561:R203H	R	-	2	0	SLC43A3	56941860	1.000000	0.71417	0.118000	0.21660	0.627000	0.37826	6.766000	0.74970	2.586000	0.87340	0.462000	0.41574	CGC		0.542	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611		4	90	0	0	0	1	0	4	90				
RFX6	222546	broad.mit.edu	37	6	117248535	117248535	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr6:117248535G>C	ENST00000332958.2	+	17	2247	c.2231G>C	c.(2230-2232)tGt>tCt	p.C744S		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	744					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)	p.C744F(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						AGTGGCAGCTGTGCGGGGTCT	0.522																																						ENST00000332958.2																			1	Substitution - Missense(1)	p.C744F(1)	kidney(1)	cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						c.(2230-2232)tGt>tCt		regulatory factor X, 6							62.0	58.0	60.0					6																	117248535		2203	4300	6503	SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117248535G>C	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.2231G>C	6.37:g.117248535G>C	ENSP00000332208:p.Cys744Ser						p.C744S	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN			17	2247	+			744					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.2231G>C	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.060504	0.36373	.	.	ENSG00000185002	ENST00000332958	T	0.56611	0.45	5.15	5.15	0.70609	.	0.162273	0.56097	D	0.000028	T	0.35537	0.0935	L	0.60455	1.87	0.52501	D	0.999958	B	0.28378	0.209	B	0.22880	0.042	T	0.22800	-1.0206	10	0.19147	T	0.46	-17.9708	18.8169	0.92079	0.0:0.0:1.0:0.0	.	744	Q8HWS3	RFX6_HUMAN	S	744	ENSP00000332208:C744S	ENSP00000332208:C744S	C	+	2	0	RFX6	117355228	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	7.566000	0.82347	2.682000	0.91365	0.655000	0.94253	TGT		0.522	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		18	46	0	0	0	1	0	18	46				
SF3B3	23450	broad.mit.edu	37	16	70603936	70603936	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr16:70603936G>A	ENST00000302516.5	+	24	3503	c.3292G>A	c.(3292-3294)Ggg>Agg	p.G1098R		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1098					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CTACCATGTCGGGGAGACGGT	0.552																																						ENST00000302516.5																			0				breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53						c.(3292-3294)Ggg>Agg		splicing factor 3b, subunit 3, 130kDa							143.0	104.0	117.0					16																	70603936		2198	4300	6498	SO:0001583	missense	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70603936G>A	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.3292G>A	16.37:g.70603936G>A	ENSP00000305790:p.Gly1098Arg						p.G1098R	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN			24	3503	+		Ovarian(137;0.0694)	1098					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	ENST00000302516.5	37	c.3292G>A	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446499	0.84101	.	.	ENSG00000189091	ENST00000302516	T	0.58358	0.34	5.66	5.66	0.87406	Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80586	0.4651	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.84792	0.0779	10	0.87932	D	0	.	19.7566	0.96296	0.0:0.0:1.0:0.0	.	1098	Q15393	SF3B3_HUMAN	R	1098	ENSP00000305790:G1098R	ENSP00000305790:G1098R	G	+	1	0	SF3B3	69161437	1.000000	0.71417	0.962000	0.40283	0.337000	0.28794	9.768000	0.98965	2.671000	0.90904	0.563000	0.77884	GGG		0.552	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		20	45	0	0	0	1	0	20	45				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		6	80	0	0	0	1	0	6	80				
BRD4	23476	broad.mit.edu	37	19	15383896	15383896	+	Silent	SNP	G	G	A	rs147477529		TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr19:15383896G>A	ENST00000263377.2	-	2	236	c.15C>T	c.(13-15)agC>agT	p.S5S	BRD4_ENST00000371835.4_Silent_p.S5S|BRD4_ENST00000360016.5_Silent_p.S5S	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	5					cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TCCCAGGGCCGCTCTCCGCAG	0.547			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000263377.2				Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	C15orf55		lethal midline carcinoma of young people		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21						c.(13-15)agC>agT		bromodomain containing 4		G	,	0,4406		0,0,2203	87.0	88.0	88.0		15,15	-0.3	1.0	19	dbSNP_134	88	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous	BRD4	NM_014299.2,NM_058243.2	,	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	,	5/723,5/1363	15383896	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15383896G>A	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.15C>T	19.37:g.15383896G>A						BRD4_ENST00000371835.4_Silent_p.S5S|BRD4_ENST00000360016.5_Silent_p.S5S	p.S5S	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		2	236	-			5					O60433|Q4G0X8|Q86YS8|Q96PD3	Silent	SNP	ENST00000263377.2	37	c.15C>T	CCDS12328.1																																																																																				0.547	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		4	154	0	0	0	1	0	4	154				
SMTN	6525	broad.mit.edu	37	22	31500330	31500330	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr22:31500330G>A	ENST00000347557.2	+	20	2850	c.2632G>A	c.(2632-2634)Gag>Aag	p.E878K	SMTN_ENST00000358743.1_Missense_Mutation_p.E901K|SMTN_ENST00000404574.1_3'UTR|SMTN_ENST00000333137.7_3'UTR|SELM_ENST00000465536.1_5'Flank	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	878	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GCCCCTGGTGGAGGTGGACGA	0.627																																						ENST00000358743.1																			0				breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						c.(2701-2703)Gag>Aag		smoothelin							211.0	150.0	171.0					22																	31500330		2203	4300	6503	SO:0001583	missense	6525				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	g.chr22:31500330G>A	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.2632G>A	22.37:g.31500330G>A	ENSP00000328635:p.Glu878Lys					RP3-412A9.10_ENST00000504335.1_RNA|SMTN_ENST00000347557.2_Missense_Mutation_p.E878K|SMTN_ENST00000404574.1_3'UTR|SMTN_ENST00000333137.7_3'UTR	p.E901K	NM_134270.2	NP_599032.2	P53814	SMTN_HUMAN			21	2919	+			878			CH.		O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	ENST00000347557.2	37	c.2701G>A	CCDS13886.1	.	.	.	.	.	.	.	.	.	.	G	36	5.964291	0.97151	.	.	ENSG00000183963	ENST00000358743;ENST00000347557	T;D	0.95307	-0.03;-3.67	5.27	5.27	0.74061	Calponin homology domain (5);	0.000000	0.34507	N	0.003905	D	0.96448	0.8841	M	0.70787	2.145	0.80722	D	1	D;B	0.67145	0.996;0.216	P;B	0.58331	0.837;0.206	D	0.96764	0.9563	10	0.87932	D	0	.	19.2685	0.93998	0.0:0.0:1.0:0.0	.	901;878	E7EWD0;P53814	.;SMTN_HUMAN	K	901;878	ENSP00000351593:E901K;ENSP00000328635:E878K	ENSP00000328635:E878K	E	+	1	0	SMTN	29830330	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.781000	0.99029	2.642000	0.89623	0.549000	0.68633	GAG		0.627	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270		17	95	0	0	0	1	0	17	95				
PCDHA3	56145	broad.mit.edu	37	5	140180922	140180922	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr5:140180922G>A	ENST00000522353.2	+	1	140	c.140G>A	c.(139-141)cGc>cAc	p.R47H	PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.R47H|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	47	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R47P(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGTGGGCCGCATCGCGCAG	0.657																																						ENST00000522353.2																			2	Substitution - Missense(2)	p.R47P(2)	lung(2)	NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(139-141)cGc>cAc									53.0	62.0	59.0					5																	140180922		2203	4300	6503	SO:0001583	missense	56145							g.chr5:140180922G>A	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.140G>A	5.37:g.140180922G>A	ENSP00000429808:p.Arg47His					PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.R47H|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron	p.R47H	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	140	+								O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.140G>A	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	g	17.00	3.275454	0.59649	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.27256	1.68;1.68	4.48	4.48	0.54585	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.39083	U	0.001467	T	0.35770	0.0943	M	0.64630	1.985	0.32959	D	0.52075	P;P	0.48350	0.885;0.909	B;P	0.46208	0.253;0.507	T	0.56123	-0.8031	10	0.72032	D	0.01	.	17.581	0.87968	0.0:0.0:1.0:0.0	.	47;47	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	H	47	ENSP00000429808:R47H;ENSP00000434086:R47H	ENSP00000429808:R47H	R	+	2	0	PCDHA3	140161106	0.000000	0.05858	1.000000	0.80357	0.983000	0.72400	0.545000	0.23268	2.228000	0.72767	0.586000	0.80456	CGC		0.657	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		4	156	0	0	0	1	0	4	156				
MUC4	4585	broad.mit.edu	37	3	195515383	195515383	+	Missense_Mutation	SNP	G	G	T	rs199702053	byFrequency	TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr3:195515383G>T	ENST00000463781.3	-	2	3527	c.3068C>A	c.(3067-3069)aCc>aAc	p.T1023N	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T1023N	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	458	Repeat.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.S1013_T1028delSPSSVSTGHTTPLPVT(4)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGAAGAGGGGTGGTGTGACC	0.572																																						ENST00000463781.3																			4	Deletion - In frame(4)	p.S1013_T1028delSPSSVSTGHTTPLPVT(4)	stomach(4)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(3067-3069)aCc>aAc		mucin 4, cell surface associated							48.0	25.0	32.0					3																	195515383		692	1591	2283	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195515383G>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.3068C>A	3.37:g.195515383G>T	ENSP00000417498:p.Thr1023Asn					MUC4_ENST00000475231.1_Missense_Mutation_p.T1023N|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	p.T1023N	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	3527	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1024			Repeat.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.3068C>A	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	1.712	-0.498844	0.04291	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.32988	1.43;1.43	1.0	-2.01	0.07410	.	.	.	.	.	T	0.15522	0.0374	N	0.19112	0.55	0.09310	N	1	B	0.19200	0.034	B	0.22880	0.042	T	0.24905	-1.0147	8	.	.	.	.	4.3037	0.10937	0.0:0.3604:0.3453:0.2943	.	1023	E7ESK3	.	N	1023	ENSP00000417498:T1023N;ENSP00000420243:T1023N	.	T	-	2	0	MUC4	196999778	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-4.247000	0.00266	-2.091000	0.00858	0.064000	0.15345	ACC		0.572	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	8	1	0	1	1	1	3	8				
ARMC9	80210	broad.mit.edu	37	2	232141379	232141379	+	Silent	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr2:232141379C>T	ENST00000349938.4	+	15	1559	c.1365C>T	c.(1363-1365)gaC>gaT	p.D455D	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	455						extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		TGATTCAAGACGGCCTCATCT	0.512																																						ENST00000349938.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1363-1365)gaC>gaT		armadillo repeat containing 9							153.0	141.0	145.0					2																	232141379		2203	4300	6503	SO:0001819	synonymous_variant	80210						binding	g.chr2:232141379C>T	BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"""Armadillo repeat containing"""	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.1365C>T	2.37:g.232141379C>T						ARMC9_ENST00000483477.1_3'UTR	p.D455D	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)	15	1559	+		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)	455					Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Silent	SNP	ENST00000349938.4	37	c.1365C>T	CCDS2484.1	.	.	.	.	.	.	.	.	.	.	C	6.866	0.529063	0.13127	.	.	ENSG00000135931	ENST00000424740	.	.	.	5.42	-8.8	0.00817	.	.	.	.	.	T	0.59362	0.2188	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.66874	-0.5813	4	.	.	.	-26.2497	14.2709	0.66152	0.0921:0.1354:0.0:0.7726	.	.	.	.	M	158	.	.	T	+	2	0	ARMC9	231849623	0.000000	0.05858	0.108000	0.21378	0.797000	0.45037	-2.601000	0.00892	-1.663000	0.01481	-1.008000	0.02478	ACG		0.512	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3	NM_025139		4	208	0	0	0	1	0	4	208				
CFAP44	55779	broad.mit.edu	37	3	113099872	113099872	+	Silent	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr3:113099872G>A	ENST00000295868.2	-	16	2088	c.1926C>T	c.(1924-1926)ggC>ggT	p.G642G	WDR52_ENST00000393845.2_Silent_p.G642G|WDR52_ENST00000475568.1_5'UTR	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CAAGAATATAGCCATTTTCAC	0.299																																						ENST00000393845.2																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						c.(1924-1926)ggC>ggT		WD repeat domain 52							81.0	79.0	80.0					3																	113099872		2201	4298	6499	SO:0001819	synonymous_variant	55779							g.chr3:113099872G>A																												ENST00000295868.2:c.1926C>T	3.37:g.113099872G>A						WDR52_ENST00000295868.2_Silent_p.G642G|WDR52_ENST00000475568.1_5'UTR	p.G642G	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN			16	1992	-			642						Silent	SNP	ENST00000295868.2	37	c.1926C>T	CCDS2972.1																																																																																				0.299	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			8	35	0	0	0	1	0	8	35				
CARD10	29775	broad.mit.edu	37	22	37898681	37898681	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr22:37898681G>A	ENST00000403299.1	-	12	1931	c.1715C>T	c.(1714-1716)tCt>tTt	p.S572F	CARD10_ENST00000406271.3_Missense_Mutation_p.S286F|CARD10_ENST00000251973.5_Missense_Mutation_p.S572F			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	572	Poly-Ser.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CACGCTGTCAGAGGATGAGGA	0.592																																						ENST00000403299.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1714-1716)tCt>tTt		caspase recruitment domain family, member 10							66.0	52.0	57.0					22																	37898681		2203	4300	6503	SO:0001583	missense	29775				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity	g.chr22:37898681G>A	AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.1715C>T	22.37:g.37898681G>A	ENSP00000384570:p.Ser572Phe					CARD10_ENST00000406271.3_Missense_Mutation_p.S286F|CARD10_ENST00000251973.5_Missense_Mutation_p.S572F	p.S572F			Q9BWT7	CAR10_HUMAN			12	1931	-	Melanoma(58;0.0574)		572			Poly-Ser.		Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Missense_Mutation	SNP	ENST00000403299.1	37	c.1715C>T	CCDS13948.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809200	0.50421	.	.	ENSG00000100065	ENST00000403299;ENST00000406271;ENST00000251973;ENST00000437756;ENST00000433485	T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53	4.91	4.91	0.64330	.	0.861148	0.10438	N	0.674606	T	0.67258	0.2874	L	0.51422	1.61	0.37431	D	0.914022	D;D	0.76494	0.999;0.998	D;D	0.68192	0.956;0.935	T	0.65261	-0.6211	10	0.49607	T	0.09	-12.3386	13.9912	0.64367	0.0:0.0:1.0:0.0	.	572;286	Q9BWT7;Q8NC81	CAR10_HUMAN;.	F	572;286;572;213;44	ENSP00000384570:S572F;ENSP00000385799:S286F;ENSP00000251973:S572F;ENSP00000416239:S213F;ENSP00000393411:S44F	ENSP00000251973:S572F	S	-	2	0	CARD10	36228627	0.995000	0.38212	0.986000	0.45419	0.203000	0.24098	2.892000	0.48625	2.447000	0.82792	0.655000	0.94253	TCT		0.592	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1	NM_014550		4	60	0	0	0	1	0	4	60				
ZEB1	6935	broad.mit.edu	37	10	31812948	31812948	+	Silent	SNP	C	C	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr10:31812948C>A	ENST00000320985.10	+	8	2799	c.2689C>A	c.(2689-2691)Cgg>Agg	p.R897R	ZEB1_ENST00000446923.2_Silent_p.R881R|ZEB1_ENST00000560721.2_Silent_p.R877R|ZEB1_ENST00000542815.3_Silent_p.R830R|ZEB1_ENST00000361642.5_Silent_p.R898R			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	897					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAGAAAATGCGGAAGACAGA	0.373																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77						c.(2641-2643)Cgg>Agg		zinc finger E-box binding homeobox 1							109.0	109.0	109.0					10																	31812948		2203	4300	6503	SO:0001819	synonymous_variant	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31812948C>A	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2689C>A	10.37:g.31812948C>A						ZEB1_ENST00000320985.10_Silent_p.R897R|ZEB1_ENST00000542815.3_Silent_p.R830R|ZEB1_ENST00000560721.2_Silent_p.R877R|ZEB1_ENST00000361642.5_Silent_p.R898R	p.R881R	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN			8	3032	+		Prostate(175;0.0156)	897					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Silent	SNP	ENST00000320985.10	37	c.2641C>A	CCDS7169.1																																																																																				0.373	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		25	36	1	0	6.32553e-13	1	6.56513e-13	25	36				
TMCO4	255104	broad.mit.edu	37	1	20027287	20027287	+	Silent	SNP	G	G	A	rs138938855		TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr1:20027287G>A	ENST00000294543.6	-	14	1597	c.1356C>T	c.(1354-1356)tcC>tcT	p.S452S	TMCO4_ENST00000375122.2_Silent_p.S412S|TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375127.1_Silent_p.S452S	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	452						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		TGATCCTCCCGGACACCACCT	0.567																																						ENST00000294543.6																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1354-1356)tcC>tcT		transmembrane and coiled-coil domains 4		G		1,4405	2.1+/-5.4	0,1,2202	146.0	126.0	133.0		1356	-8.5	0.9	1	dbSNP_134	133	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	TMCO4	NM_181719.4		0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384		452/635	20027287	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	255104					integral to membrane		g.chr1:20027287G>A		CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.1356C>T	1.37:g.20027287G>A						TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375122.2_Silent_p.S412S|TMCO4_ENST00000375127.1_Silent_p.S452S	p.S452S	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)	14	1597	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	452					Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Silent	SNP	ENST00000294543.6	37	c.1356C>T	CCDS198.1																																																																																				0.567	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1	NM_181719		4	131	0	0	0	1	0	4	131				
ATG2A	23130	broad.mit.edu	37	11	64678549	64678549	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr11:64678549C>T	ENST00000377264.3	-	10	1539	c.1427G>A	c.(1426-1428)cGa>cAa	p.R476Q	ATG2A_ENST00000421419.2_Missense_Mutation_p.R476Q	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	476					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GAAGCGTGGTCGAAGGTGATG	0.602																																						ENST00000421419.2																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(1426-1428)cGa>cAa		autophagy related 2A							73.0	70.0	71.0					11																	64678549		2201	4297	6498	SO:0001583	missense	23130						protein binding	g.chr11:64678549C>T		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.1427G>A	11.37:g.64678549C>T	ENSP00000366475:p.Arg476Gln					ATG2A_ENST00000377264.3_Missense_Mutation_p.R476Q	p.R476Q			Q2TAZ0	ATG2A_HUMAN			10	1541	-			476					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.1427G>A	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389311	0.82902	.	.	ENSG00000110046	ENST00000421419;ENST00000377264	T;T	0.08720	3.06;3.06	4.59	4.59	0.56863	.	0.064499	0.64402	D	0.000019	T	0.21022	0.0506	L	0.58101	1.795	0.32289	N	0.566513	D	0.76494	0.999	P	0.58970	0.849	T	0.03121	-1.1070	10	0.52906	T	0.07	.	15.2892	0.73854	0.0:1.0:0.0:0.0	.	476	Q2TAZ0	ATG2A_HUMAN	Q	476	ENSP00000410522:R476Q;ENSP00000366475:R476Q	ENSP00000366475:R476Q	R	-	2	0	ATG2A	64435125	0.985000	0.35326	1.000000	0.80357	0.971000	0.66376	3.203000	0.51075	2.550000	0.86006	0.462000	0.41574	CGA		0.602	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		15	76	0	0	0	1	0	15	76				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			643955							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			3	27	0	0	0	1	0	3	27				
MCC	4163	broad.mit.edu	37	5	112458428	112458428	+	Missense_Mutation	SNP	G	G	C	rs371325011		TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr5:112458428G>C	ENST00000302475.4	-	4	973	c.410C>G	c.(409-411)tCt>tGt	p.S137C	MCC_ENST00000408903.3_Missense_Mutation_p.S327C|MCC_ENST00000515367.2_Missense_Mutation_p.S74C|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	137					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GATAGAGACAGAGGTCTGGTC	0.522																																						ENST00000302475.4																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(409-411)tCt>tGt		mutated in colorectal cancers							168.0	136.0	147.0					5																	112458428		2202	4300	6502	SO:0001583	missense	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112458428G>C		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.410C>G	5.37:g.112458428G>C	ENSP00000305617:p.Ser137Cys					MCC_ENST00000408903.3_Missense_Mutation_p.S327C|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.S74C	p.S137C	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	4	973	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	137					D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	37	c.410C>G	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063750	0.76187	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.78924	-1.22;2.33;1.16	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.78868	0.4351	N	0.08118	0	0.80722	D	1	D;D;D;D	0.76494	0.997;0.997;0.999;0.997	D;D;D;D	0.79108	0.971;0.971;0.992;0.971	T	0.82957	-0.0199	10	0.56958	D	0.05	-8.9082	19.5722	0.95425	0.0:0.0:1.0:0.0	.	137;99;327;137	B7Z6G0;B3KTX0;P23508-2;P23508	.;.;.;CRCM_HUMAN	C	137;74;327	ENSP00000305617:S137C;ENSP00000421615:S74C;ENSP00000386227:S327C	ENSP00000305617:S137C	S	-	2	0	MCC	112486327	1.000000	0.71417	1.000000	0.80357	0.654000	0.38779	7.753000	0.85153	2.724000	0.93272	0.563000	0.77884	TCT		0.522	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		8	56	0	0	0	1	0	8	56				
KMT2A	4297	broad.mit.edu	37	11	118307581	118307581	+	Silent	SNP	C	C	G			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr11:118307581C>G	ENST00000389506.5	+	1	354	c.354C>G	c.(352-354)gtC>gtG	p.V118V	KMT2A_ENST00000534358.1_Silent_p.V118V|KMT2A_ENST00000354520.4_Silent_p.V118V|RP11-770J1.4_ENST00000532619.1_5'Flank			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	118					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CGCTGCAGGTCTCGGCCGCCA	0.726																																						ENST00000534358.1																			0											c.(352-354)gtC>gtG		lysine (K)-specific methyltransferase 2A							5.0	7.0	6.0					11																	118307581		2079	4081	6160	SO:0001819	synonymous_variant	4297							g.chr11:118307581C>G	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.354C>G	11.37:g.118307581C>G						KMT2A_ENST00000389506.5_Silent_p.V118V|KMT2A_ENST00000354520.4_Silent_p.V118V	p.V118V	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					1	377	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	c.354C>G	CCDS31686.1																																																																																				0.726	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		5	23	0	0	0	1	0	5	23				
SGK223	157285	broad.mit.edu	37	8	8233963	8233963	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr8:8233963C>T	ENST00000520004.1	-	3	2220	c.1956G>A	c.(1954-1956)tgG>tgA	p.W652*	SGK223_ENST00000330777.4_Nonsense_Mutation_p.W652*			Q86YV5	SG223_HUMAN		654							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TCTCTCTTCCCCAGCTGTGAC	0.592																																					GBM(34;731 755 10259 33573 33867)	ENST00000520004.1																			0											c.(1954-1956)tgG>tgA									132.0	152.0	145.0					8																	8233963		2003	4167	6170	SO:0001587	stop_gained	157285						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8233963C>T																												ENST00000520004.1:c.1956G>A	8.37:g.8233963C>T	ENSP00000428054:p.Trp652*					SGK223_ENST00000330777.4_Nonsense_Mutation_p.W652*	p.W652*			Q86YV5	SG223_HUMAN			3	2220	-			652					Q8N3N5	Nonsense_Mutation	SNP	ENST00000520004.1	37	c.1956G>A	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	C	43	10.050792	0.99325	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	.	.	.	5.31	5.31	0.75309	.	0.187800	0.27231	N	0.020317	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.3492	0.90331	0.0:1.0:0.0:0.0	.	.	.	.	X	652	.	ENSP00000330930:W652X	W	-	3	0	AC068353.1	8271373	0.076000	0.21285	1.000000	0.80357	0.991000	0.79684	2.483000	0.45233	2.665000	0.90641	0.655000	0.94253	TGG		0.592	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			25	71	0	0	0	1	0	25	71				
TLR10	81793	broad.mit.edu	37	4	38775054	38775054	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr4:38775054C>G	ENST00000308973.4	-	4	2763	c.2158G>C	c.(2158-2160)Gaa>Caa	p.E720Q	TLR10_ENST00000508334.1_Missense_Mutation_p.E720Q|TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000506111.1_Missense_Mutation_p.E720Q|TLR10_ENST00000361424.2_Missense_Mutation_p.E720Q	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	720	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						TCAGAATTTTCATGGAAGAGA	0.378																																						ENST00000308973.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						c.(2158-2160)Gaa>Caa		toll-like receptor 10							96.0	101.0	99.0					4																	38775054		2203	4300	6503	SO:0001583	missense	81793				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity	g.chr4:38775054C>G	AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"""CD molecules"""	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.2158G>C	4.37:g.38775054C>G	ENSP00000308925:p.Glu720Gln					TLR10_ENST00000506111.1_Missense_Mutation_p.E720Q|TLR10_ENST00000508334.1_Missense_Mutation_p.E720Q|TLR10_ENST00000361424.2_Missense_Mutation_p.E720Q	p.E720Q	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN			4	2763	-			720			TIR.		A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Missense_Mutation	SNP	ENST00000308973.4	37	c.2158G>C	CCDS3445.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.818700	0.50633	.	.	ENSG00000174123	ENST00000308973;ENST00000506111;ENST00000361424;ENST00000508334	T;T;T;T	0.07567	3.18;3.18;3.18;3.18	5.56	5.56	0.83823	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.231027	0.28006	N	0.016966	T	0.13884	0.0336	M	0.72576	2.205	0.09310	N	1	B	0.24651	0.108	B	0.28553	0.091	T	0.08764	-1.0706	10	0.87932	D	0	.	12.82	0.57688	0.0:0.9256:0.0:0.0744	.	720	Q9BXR5	TLR10_HUMAN	Q	720	ENSP00000308925:E720Q;ENSP00000421483:E720Q;ENSP00000354459:E720Q;ENSP00000424923:E720Q	ENSP00000308925:E720Q	E	-	1	0	TLR10	38451449	0.008000	0.16893	0.671000	0.29857	0.983000	0.72400	1.479000	0.35453	2.618000	0.88619	0.650000	0.86243	GAA		0.378	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1			20	134	0	0	0	1	0	20	134				
CKM	1158	broad.mit.edu	37	19	45822923	45822923	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr19:45822923C>T	ENST00000221476.3	-	2	223	c.49G>A	c.(49-51)Gag>Aag	p.E17K		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	17	Phosphagen kinase N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00842}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|phosphocreatine biosynthetic process (GO:0046314)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	TACTCCTCCTCAGGCTTGTAA	0.527																																						ENST00000221476.3																			0				cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17						c.(49-51)Gag>Aag		creatine kinase, muscle	Creatine(DB00148)						284.0	239.0	254.0					19																	45822923		2203	4300	6503	SO:0001583	missense	1158				creatine metabolic process	cytosol	ATP binding|creatine kinase activity	g.chr19:45822923C>T	M14780	CCDS12659.1	19q13.32	2012-10-02			ENSG00000104879	ENSG00000104879	2.7.3.2		1994	protein-coding gene	gene with protein product		123310		CKMM			Standard	NM_001824		Approved		uc002pbd.4	P06732		ENST00000221476.3:c.49G>A	19.37:g.45822923C>T	ENSP00000221476:p.Glu17Lys						p.E17K	NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	2	223	-		Ovarian(192;0.0336)|all_neural(266;0.112)	17			Phosphagen kinase N-terminal.		Q96QL9	Missense_Mutation	SNP	ENST00000221476.3	37	c.49G>A	CCDS12659.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.605292	0.46423	.	.	ENSG00000104879	ENST00000221476	T	0.62941	-0.01	4.69	3.62	0.41486	ATP:guanido phosphotransferase, N-terminal (3);	0.112777	0.64402	D	0.000017	T	0.61652	0.2364	M	0.78456	2.415	0.58432	D	0.999992	B	0.12630	0.006	B	0.17979	0.02	T	0.59257	-0.7488	10	0.30854	T	0.27	-38.4628	12.4689	0.55775	0.0:0.8223:0.1777:0.0	.	17	P06732	KCRM_HUMAN	K	17	ENSP00000221476:E17K	ENSP00000221476:E17K	E	-	1	0	CKM	50514763	0.998000	0.40836	0.670000	0.29842	0.602000	0.36980	3.769000	0.55303	1.062000	0.40625	0.655000	0.94253	GAG		0.527	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457569.1			24	115	0	0	0	1	0	24	115				
RPL32P3	132241	broad.mit.edu	37	3	129116292	129116292	+	RNA	SNP	A	A	C	rs562734605	byFrequency	TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr3:129116292A>C	ENST00000514355.1	-	0	412				SNORA7B_ENST00000384360.1_RNA					ribosomal protein L32 pseudogene 3											lung(1)	1						AGCAAATCCCACCCTGCCAGT	0.512													a|||	475	0.0948482	0.0605	0.1643	5008	,	,		19602	0.127		0.1402	False		,,,				2504	0.0123					ENST00000514355.1																			0				lung(1)	1																																														132241							g.chr3:129116292A>C	AK096589, AL117606		3q21.3	2014-03-20			ENSG00000251474	ENSG00000251474			27024	pseudogene	pseudogene						12477932	Standard	NR_003111		Approved		uc003ema.4		OTTHUMG00000159465		3.37:g.129116292A>C														0	412	-									RNA	SNP	ENST00000514355.1	37																																																																																						0.512	RPL32P3-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000355880.1			13	82	0	0	0	1	0	13	82				
GGT7	2686	broad.mit.edu	37	20	33444658	33444658	+	Silent	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr20:33444658G>A	ENST00000336431.5	-	8	1097	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	351					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TGTAATTGCTGAAGTCCTCTT	0.587																																						ENST00000336431.5																			0				NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						c.(1051-1053)ttC>ttT		gamma-glutamyltransferase 7							103.0	75.0	84.0					20																	33444658		2203	4300	6503	SO:0001819	synonymous_variant	2686				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr20:33444658G>A	AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"""Gamma-glutamyltransferases"""	4259	protein-coding gene	gene with protein product		612342	"""gamma-glutamyltransferase-like 3"""	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.1053C>T	20.37:g.33444658G>A							p.F351F	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN			8	1097	-			351					Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Silent	SNP	ENST00000336431.5	37	c.1053C>T	CCDS13242.2																																																																																				0.587	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026		8	46	0	0	0	1	0	8	46				
PLK2	10769	broad.mit.edu	37	5	57755599	57755599	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr5:57755599G>A	ENST00000274289.3	-	1	488	c.188C>T	c.(187-189)tCg>tTg	p.S63L	PLK2_ENST00000502671.1_5'Flank	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	63	Poly-His.				G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		CCCCGAGTGCGAATGGTGGTG	0.677																																						ENST00000274289.3																			0				endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26						c.(187-189)tCg>tTg		polo-like kinase 2							15.0	20.0	18.0					5																	57755599		2191	4288	6479	SO:0001583	missense	10769				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr5:57755599G>A		CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"""serum-inducible kinase"""	607023	"""polo-like kinase 2 (Drosophila)"""				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.188C>T	5.37:g.57755599G>A	ENSP00000274289:p.Ser63Leu						p.S63L	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)	1	488	-		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)	63			Poly-His.		O60679|Q96CV7|Q9UE61	Missense_Mutation	SNP	ENST00000274289.3	37	c.188C>T	CCDS3974.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314696	0.81358	.	.	ENSG00000145632	ENST00000274289;ENST00000537944	T	0.68903	-0.36	5.26	5.26	0.73747	.	0.503543	0.20813	N	0.085202	T	0.54806	0.1881	N	0.24115	0.695	0.46901	D	0.999248	B	0.24368	0.102	B	0.12837	0.008	T	0.49103	-0.8974	10	0.31617	T	0.26	-3.5347	18.8362	0.92164	0.0:0.0:1.0:0.0	.	63	Q9NYY3	PLK2_HUMAN	L	63	ENSP00000274289:S63L	ENSP00000274289:S63L	S	-	2	0	PLK2	57791356	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.110000	0.71535	2.619000	0.88677	0.561000	0.74099	TCG		0.677	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622		5	35	0	0	0	1	0	5	35				
TM9SF1	10548	broad.mit.edu	37	14	24658622	24658622	+	Nonstop_Mutation	SNP	C	C	G			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr14:24658622C>G	ENST00000261789.4	-	6	2178	c.1820G>C	c.(1819-1821)tGa>tCa	p.*607S	TM9SF1_ENST00000530611.1_Nonstop_Mutation_p.*816S|IPO4_ENST00000354464.6_5'Flank|RP11-468E2.2_ENST00000561419.1_Missense_Mutation_p.144_144insQ|TM9SF1_ENST00000524835.1_Nonstop_Mutation_p.*520S|TM9SF1_ENST00000556387.1_Nonstop_Mutation_p.*816S|TM9SF1_ENST00000528669.1_Nonstop_Mutation_p.*590S	NM_006405.5	NP_006396.2	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	0					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		ATACAGAACTCAGTCCATCTT	0.433																																						ENST00000556387.1																			0				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24						c.(2446-2448)tGa>tCa		transmembrane 9 superfamily member 1							105.0	110.0	108.0					14																	24658622		2203	4300	6503	SO:0001578	stop_lost	10548				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		g.chr14:24658622C>G	U94831	CCDS9617.1, CCDS41934.1, CCDS73623.1	14q11.2	2005-10-11			ENSG00000100926	ENSG00000100926			11864	protein-coding gene	gene with protein product						9332367	Standard	NM_006405		Approved	MP70, HMP70	uc010tob.1	O15321	OTTHUMG00000029322	ENST00000261789.4:c.1820G>C	14.37:g.24658622C>G						RP11-468E2.2_ENST00000561419.1_Missense_Mutation_p.144_144insQ|TM9SF1_ENST00000528669.1_Nonstop_Mutation_p.*590S|TM9SF1_ENST00000524835.1_Nonstop_Mutation_p.*520S|TM9SF1_ENST00000530611.1_Nonstop_Mutation_p.*816S|TM9SF1_ENST00000261789.4_Nonstop_Mutation_p.*607S	p.*816S			O15321	TM9S1_HUMAN		GBM - Glioblastoma multiforme(265;0.0183)	10	2480	-			0					D3DS65|Q86SZ6|Q96FI8	Nonstop_Mutation	SNP	ENST00000261789.4	37	c.2447G>C	CCDS9617.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.421868	0.62622	.	.	ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000254692	ENST00000261789;ENST00000528669;ENST00000556387;ENST00000524835;ENST00000530611	.	.	.	5.65	3.84	0.44239	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7128	0.28688	0.0:0.7529:0.0:0.2471	.	.	.	.	S	607;590;816;520;816	.	.	X	-	2	2	TM9SF1;RP11-468E2.1	23728462	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.619000	0.36965	0.943000	0.37553	0.655000	0.94253	TGA		0.433	TM9SF1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073136.2	NM_006405		11	114	0	0	0	1	0	11	114				
GPRASP2	114928	broad.mit.edu	37	X	101969906	101969906	+	Silent	SNP	A	A	C			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chrX:101969906A>C	ENST00000535209.1	+	4	940	c.109A>C	c.(109-111)Aga>Cga	p.R37R	GPRASP2_ENST00000543253.1_Silent_p.R37R|GPRASP2_ENST00000332262.5_Silent_p.R37R			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	37						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						TCTGGTGGTCAGACCCAAGGT	0.572																																						ENST00000543253.1																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(109-111)Aga>Cga		G protein-coupled receptor associated sorting protein 2							122.0	112.0	115.0					X																	101969906		2203	4300	6503	SO:0001819	synonymous_variant	114928							g.chrX:101969906A>C	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.109A>C	X.37:g.101969906A>C						GPRASP2_ENST00000332262.5_Silent_p.R37R|GPRASP2_ENST00000535209.1_Silent_p.R37R	p.R37R	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1					5	1028	+								D3DXA0|Q8NAB4	Silent	SNP	ENST00000535209.1	37	c.109A>C	CCDS14501.1																																																																																				0.572	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		33	215	0	0	0	1	0	33	215				
COPG1	22820	broad.mit.edu	37	3	128986828	128986828	+	Silent	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr3:128986828C>T	ENST00000314797.6	+	16	1697	c.1593C>T	c.(1591-1593)taC>taT	p.Y531Y		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	531					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)										CCACCTTCTACCTAAATGTCC	0.532																																						ENST00000314797.6																			0											c.(1591-1593)taC>taT		coatomer protein complex, subunit gamma 1							168.0	137.0	148.0					3																	128986828		2203	4300	6503	SO:0001819	synonymous_variant	22820				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:128986828C>T	AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"""coat protein gamma-cop"""	615525	"""coatomer protein complex, subunit gamma"""	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.1593C>T	3.37:g.128986828C>T							p.Y531Y	NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN			16	1697	+			531					A8K6M8|B3KMF6|Q54AC4	Silent	SNP	ENST00000314797.6	37	c.1593C>T	CCDS33851.1																																																																																				0.532	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355456.1	NM_016128		30	37	0	0	0	1	0	30	37				
SLC12A5	57468	broad.mit.edu	37	20	44682326	44682326	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr20:44682326C>T	ENST00000454036.2	+	20	2775	c.2726C>T	c.(2725-2727)gCg>gTg	p.A909V	SLC12A5_ENST00000243964.3_Missense_Mutation_p.A886V	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	909					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.A886E(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CGCATCACTGCGGAGGTCGAG	0.537																																						ENST00000454036.1																			1	Substitution - Missense(1)	p.A886E(1)	large_intestine(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(2725-2727)gCg>gTg		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						210.0	178.0	189.0					20																	44682326		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44682326C>T	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.2726C>T	20.37:g.44682326C>T	ENSP00000387694:p.Ala909Val					SLC12A5_ENST00000243964.3_Missense_Mutation_p.A886V	p.A909V	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN			20	2802	+		Myeloproliferative disorder(115;0.0122)	909					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.2726C>T	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619593	0.87460	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.86366	-2.11;-2.11	4.25	4.25	0.50352	.	0.000000	0.85682	D	0.000000	D	0.92417	0.7593	M	0.88031	2.925	0.80722	D	1	D;D	0.67145	0.993;0.996	P;P	0.54431	0.57;0.752	D	0.94026	0.7297	10	0.66056	D	0.02	.	15.7924	0.78376	0.0:1.0:0.0:0.0	.	909;886	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	V	909;886	ENSP00000387694:A909V;ENSP00000243964:A886V	ENSP00000243964:A886V	A	+	2	0	SLC12A5	44115733	1.000000	0.71417	0.220000	0.23810	0.851000	0.48451	7.606000	0.82863	2.192000	0.70111	0.491000	0.48974	GCG		0.537	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			124	131	0	0	0	1	0	124	131				
SAMD9	54809	broad.mit.edu	37	7	92731914	92731914	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr7:92731914G>A	ENST00000379958.2	-	3	3766	c.3497C>T	c.(3496-3498)tCt>tTt	p.S1166F		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1166						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTGCTGTTGAGATTCTTTGAA	0.388																																						ENST00000379958.2																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(3496-3498)tCt>tTt		sterile alpha motif domain containing 9							206.0	211.0	209.0					7																	92731914		2203	4300	6503	SO:0001583	missense	54809					cytoplasm		g.chr7:92731914G>A	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.3497C>T	7.37:g.92731914G>A	ENSP00000369292:p.Ser1166Phe						p.S1166F	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	3766	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		1166					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.3497C>T	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.911839	0.33721	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.25250	1.81;2.6	4.54	2.63	0.31362	.	0.204057	0.31976	N	0.006779	T	0.21801	0.0525	L	0.52573	1.65	0.29848	N	0.828631	B	0.22414	0.069	B	0.21360	0.034	T	0.17471	-1.0368	10	0.87932	D	0	-7.1613	7.7975	0.29156	0.0889:0.2942:0.617:0.0	.	1166	Q5K651	SAMD9_HUMAN	F	1166	ENSP00000369292:S1166F;ENSP00000414529:S1166F	ENSP00000369292:S1166F	S	-	2	0	SAMD9	92569850	1.000000	0.71417	1.000000	0.80357	0.188000	0.23474	4.150000	0.58098	1.131000	0.42111	0.511000	0.50034	TCT		0.388	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		24	128	0	0	0	1	0	24	128				
SSBP3	23648	broad.mit.edu	37	1	54871676	54871676	+	Missense_Mutation	SNP	A	A	C			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr1:54871676A>C	ENST00000371320.3	-	1	416	c.6T>G	c.(4-6)ttT>ttG	p.F2L	SSBP3_ENST00000417664.2_5'Flank|SSBP3_ENST00000371319.3_Missense_Mutation_p.F2L|SSBP3_ENST00000357475.4_Missense_Mutation_p.F2L	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3	2					head morphogenesis (GO:0060323)|hematopoietic progenitor cell differentiation (GO:0002244)|midbrain-hindbrain boundary initiation (GO:0021547)|positive regulation of anterior head development (GO:2000744)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prechordal plate formation (GO:0021501)|protein complex assembly (GO:0006461)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|protein complex (GO:0043234)	single-stranded DNA binding (GO:0003697)			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						TGCCTTTGGCAAACATGGTTT	0.736																																						ENST00000371320.3																			0				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(4-6)ttT>ttG		single stranded DNA binding protein 3							5.0	5.0	5.0					1																	54871676		2069	3998	6067	SO:0001583	missense	23648				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding	g.chr1:54871676A>C		CCDS590.1, CCDS591.1, CCDS30726.1	1p32.3	2008-02-05	2001-11-28		ENSG00000157216	ENSG00000157216			15674	protein-coding gene	gene with protein product		607390	"""single-stranded DNA-binding protein 3"""			12079286	Standard	NM_145716		Approved	CSDP, SSDP, FLJ10355, SSDP1	uc001cxe.4	Q9BWW4	OTTHUMG00000008264	ENST00000371320.3:c.6T>G	1.37:g.54871676A>C	ENSP00000360371:p.Phe2Leu					SSBP3_ENST00000371319.3_Missense_Mutation_p.F2L|SSBP3_ENST00000357475.4_Missense_Mutation_p.F2L	p.F2L	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN			1	416	-			2					A8K0A9|Q5T860|Q5T861|Q9BTM0|Q9BWW3	Missense_Mutation	SNP	ENST00000371320.3	37	c.6T>G	CCDS591.1	.	.	.	.	.	.	.	.	.	.	A	13.81	2.349109	0.41599	.	.	ENSG00000157216	ENST00000371320;ENST00000371319;ENST00000357475	.	.	.	2.6	1.37	0.22104	.	0.000000	0.47455	U	0.000225	T	0.24967	0.0606	N	0.22421	0.69	0.27923	N	0.938179	B;B;B	0.17038	0.008;0.018;0.02	B;B;B	0.23574	0.024;0.047;0.021	T	0.16364	-1.0405	9	0.72032	D	0.01	.	4.6054	0.12374	0.7001:0.0:0.2999:0.0	.	2;2;2	Q9BWW4-2;Q9BWW4-3;Q9BWW4	.;.;SSBP3_HUMAN	L	2	.	ENSP00000350067:F2L	F	-	3	2	SSBP3	54644264	0.998000	0.40836	1.000000	0.80357	0.931000	0.56810	1.422000	0.34826	0.974000	0.38366	0.235000	0.17854	TTT		0.736	SSBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022721.1	NM_018070		4	4	0	0	0	1	0	4	4				
CYP26B1	56603	broad.mit.edu	37	2	72360180	72360180	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr2:72360180C>T	ENST00000001146.2	-	5	1321	c.1118G>A	c.(1117-1119)cGc>cAc	p.R373H	CYP26B1_ENST00000546307.1_Missense_Mutation_p.R298H|CYP26B1_ENST00000412253.1_Missense_Mutation_p.R182H	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	373					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CAGCACAGTGCGGTAGCCGCC	0.682																																						ENST00000001146.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						c.(1117-1119)cGc>cAc		cytochrome P450, family 26, subfamily B, polypeptide 1							55.0	49.0	51.0					2																	72360180		2201	4300	6501	SO:0001583	missense	56603				cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr2:72360180C>T		CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"""Cytochrome P450s"""	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.1118G>A	2.37:g.72360180C>T	ENSP00000001146:p.Arg373His					CYP26B1_ENST00000412253.1_Missense_Mutation_p.R182H|CYP26B1_ENST00000546307.1_Missense_Mutation_p.R298H	p.R373H	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN			5	1321	-			373					B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Missense_Mutation	SNP	ENST00000001146.2	37	c.1118G>A	CCDS1919.1	.	.	.	.	.	.	.	.	.	.	C	33	5.242172	0.95272	.	.	ENSG00000003137	ENST00000001146;ENST00000412253;ENST00000546307	T;T;T	0.77877	-1.13;-1.13;-1.13	5.11	5.11	0.69529	.	0.102343	0.64402	D	0.000004	D	0.87152	0.6106	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.976;0.985;1.0	D	0.87891	0.2684	10	0.87932	D	0	-24.1348	17.6458	0.88148	0.0:1.0:0.0:0.0	.	298;356;373	B7Z2K6;B7Z2P4;Q9NR63	.;.;CP26B_HUMAN	H	373;182;298	ENSP00000001146:R373H;ENSP00000401465:R182H;ENSP00000443304:R298H	ENSP00000001146:R373H	R	-	2	0	CYP26B1	72213688	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	5.923000	0.70045	2.833000	0.97629	0.650000	0.86243	CGC		0.682	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885		12	61	0	0	0	1	0	12	61				
UGT2B4	7363	broad.mit.edu	37	4	70355182	70355182	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr4:70355182G>A	ENST00000305107.6	-	3	1023	c.977C>T	c.(976-978)tCa>tTa	p.S326L	UGT2B4_ENST00000381096.3_Missense_Mutation_p.S190L|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Missense_Mutation_p.S326L	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	326					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	GGCAAGGGCTGATGCAATTAC	0.403																																						ENST00000305107.6																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						c.(976-978)tCa>tTa		UDP glucuronosyltransferase 2 family, polypeptide B4							168.0	163.0	165.0					4																	70355182		2203	4300	6503	SO:0001583	missense	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70355182G>A	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.977C>T	4.37:g.70355182G>A	ENSP00000305221:p.Ser326Leu					UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Missense_Mutation_p.S326L|UGT2B4_ENST00000381096.3_Missense_Mutation_p.S190L	p.S326L	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN			3	1023	-			326					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	c.977C>T	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	G	7.291	0.611081	0.14066	.	.	ENSG00000156096	ENST00000512583;ENST00000305107;ENST00000381096	T;T;T	0.60797	0.16;0.16;0.16	2.25	1.36	0.22044	.	0.624206	0.13909	U	0.354391	T	0.59197	0.2176	M	0.81682	2.555	0.21740	N	0.999569	B;B;P	0.39003	0.034;0.098;0.654	B;B;B	0.40285	0.091;0.098;0.325	T	0.53394	-0.8445	10	0.54805	T	0.06	.	9.0527	0.36385	0.0:0.2275:0.7725:0.0	.	190;326;326	A6NCP7;G5E9X8;P06133	.;.;UD2B4_HUMAN	L	326;326;190	ENSP00000421290:S326L;ENSP00000305221:S326L;ENSP00000370486:S190L	ENSP00000305221:S326L	S	-	2	0	UGT2B4	70389771	0.001000	0.12720	0.823000	0.32752	0.027000	0.11550	0.722000	0.25925	0.491000	0.27793	0.306000	0.20318	TCA		0.403	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		21	164	0	0	0	1	0	21	164				
AFF3	3899	broad.mit.edu	37	2	100176836	100176836	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr2:100176836G>T	ENST00000409236.2	-	19	3294	c.3182C>A	c.(3181-3183)gCt>gAt	p.A1061D	AFF3_ENST00000317233.4_Missense_Mutation_p.A1061D|AFF3_ENST00000409579.1_Missense_Mutation_p.A1086D|AFF3_ENST00000356421.2_Missense_Mutation_p.A1086D			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	1061					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CCATAATGCAGCCAGTTGTTT	0.483																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(3181-3183)gCt>gAt		AF4/FMR2 family, member 3							198.0	180.0	186.0					2																	100176836		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100176836G>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.3182C>A	2.37:g.100176836G>T	ENSP00000387207:p.Ala1061Asp					AFF3_ENST00000409579.1_Missense_Mutation_p.A1086D|AFF3_ENST00000356421.2_Missense_Mutation_p.A1086D|AFF3_ENST00000409236.1_Missense_Mutation_p.A1061D	p.A1061D	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			20	3417	-			1061					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.3182C>A	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	G	33	5.247892	0.95305	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000445815	T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.86965	0.6060	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	0.985;1.0	D;D	0.78314	0.991;0.988	D	0.88548	0.3114	10	0.87932	D	0	.	19.718	0.96131	0.0:0.0:1.0:0.0	.	1061;1086	P51826;P51826-2	AFF3_HUMAN;.	D	1061;1086;1086;1061;103	ENSP00000317421:A1061D;ENSP00000348793:A1086D;ENSP00000386834:A1086D;ENSP00000387207:A1061D;ENSP00000416685:A103D	ENSP00000317421:A1061D	A	-	2	0	AFF3	99543268	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.664000	0.98607	2.664000	0.90586	0.655000	0.94253	GCT		0.483	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		21	72	1	0	5.35047e-06	1	5.47026e-06	21	72				
B3GAT3	26229	broad.mit.edu	37	11	62384033	62384033	+	Missense_Mutation	SNP	A	A	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr11:62384033A>T	ENST00000265471.5	-	4	1081	c.854T>A	c.(853-855)cTg>cAg	p.L285Q	B3GAT3_ENST00000531383.1_Missense_Mutation_p.L285Q|B3GAT3_ENST00000534026.1_Missense_Mutation_p.L285Q	NM_012200.3	NP_036332.2	O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3	285					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|glucuronosyltransferase activity (GO:0015020)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						AAGGTGGCTCAGAAGACTGCT	0.582																																						ENST00000531383.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						c.(853-855)cTg>cAg		beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)							54.0	56.0	55.0					11																	62384033		2201	4298	6499	SO:0001583	missense	26229				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding	g.chr11:62384033A>T	AB009598	CCDS8025.1	11q12	2014-07-08	2014-07-08		ENSG00000149541	ENSG00000149541	2.4.1.135	"""Beta-1,3-glucuronyltransferases"""	923	protein-coding gene	gene with protein product	"""glucuronosyltransferase I"", ""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3"""	606374	"""beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)"""			9506957	Standard	NM_012200		Approved	GlcAT-I	uc001ntw.3	O94766	OTTHUMG00000167685	ENST00000265471.5:c.854T>A	11.37:g.62384033A>T	ENSP00000265471:p.Leu285Gln					B3GAT3_ENST00000265471.5_Missense_Mutation_p.L285Q|B3GAT3_ENST00000534026.1_Missense_Mutation_p.L285Q	p.L285Q			O94766	B3GA3_HUMAN			4	1060	-			285					B7ZAB3|Q96I06|Q9UEP0	Missense_Mutation	SNP	ENST00000265471.5	37	c.854T>A	CCDS8025.1	.	.	.	.	.	.	.	.	.	.	a	22.9	4.356253	0.82243	.	.	ENSG00000149541	ENST00000265471;ENST00000531383;ENST00000534026	D;D;D	0.84873	-1.91;-1.91;-1.91	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.94364	0.8188	H	0.95114	3.625	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	D	0.95651	0.8707	10	0.87932	D	0	.	13.2173	0.59867	1.0:0.0:0.0:0.0	.	285;291;285	B7ZAB3;Q5U676;O94766	.;.;B3GA3_HUMAN	Q	285	ENSP00000265471:L285Q;ENSP00000431359:L285Q;ENSP00000432474:L285Q	ENSP00000265471:L285Q	L	-	2	0	B3GAT3	62140609	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.238000	0.95380	2.015000	0.59207	0.454000	0.30748	CTG		0.582	B3GAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395588.1	NM_012200		24	91	0	0	0	1	0	24	91				
BTN3A2	11118	broad.mit.edu	37	6	26368846	26368846	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr6:26368846G>C	ENST00000356386.2	+	4	327	c.139G>C	c.(139-141)Gac>Cac	p.D47H	BTN3A2_ENST00000396948.1_Missense_Mutation_p.D47H|BTN3A2_ENST00000377708.2_Missense_Mutation_p.D47H|BTN3A2_ENST00000396934.3_Missense_Mutation_p.D24H|BTN3A2_ENST00000508906.2_Missense_Mutation_p.D5H|BTN3A2_ENST00000527422.1_Missense_Mutation_p.D47H|BTN3A2_ENST00000532994.1_Intron	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	47	Ig-like V-type.				interferon-gamma secretion (GO:0072643)|T cell mediated immunity (GO:0002456)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						GGTGGGTGAAGACGCTGATCT	0.572																																						ENST00000356386.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						c.(139-141)Gac>Cac		butyrophilin, subfamily 3, member A2							79.0	64.0	69.0					6																	26368846		2199	4295	6494	SO:0001583	missense	11118					integral to membrane		g.chr6:26368846G>C	U90546	CCDS4605.1, CCDS56399.1, CCDS56400.1	6p22.1	2014-01-14			ENSG00000186470	ENSG00000186470		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1139	protein-coding gene	gene with protein product		613594				9149941	Standard	NM_007047		Approved	BTN3.2	uc010jqi.2	P78410	OTTHUMG00000014450	ENST00000356386.2:c.139G>C	6.37:g.26368846G>C	ENSP00000348751:p.Asp47His					BTN3A2_ENST00000508906.2_Missense_Mutation_p.D5H|BTN3A2_ENST00000377708.2_Missense_Mutation_p.D47H|BTN3A2_ENST00000396948.1_Missense_Mutation_p.D47H|BTN3A2_ENST00000532994.1_Intron|BTN3A2_ENST00000396934.3_Missense_Mutation_p.D24H|BTN3A2_ENST00000527422.1_Missense_Mutation_p.D47H	p.D47H	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN			4	327	+			47			Ig-like V-type.		B4DRT7|B4E103|F5H791|F8W6E0|O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44	Missense_Mutation	SNP	ENST00000356386.2	37	c.139G>C	CCDS4605.1	.	.	.	.	.	.	.	.	.	.	g	19.65	3.867944	0.72065	.	.	ENSG00000186470	ENST00000532865;ENST00000530653;ENST00000527417;ENST00000535620;ENST00000527422;ENST00000356386;ENST00000396934;ENST00000377708;ENST00000396948;ENST00000508906	T;T;T;T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19	3.17	3.17	0.36434	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68952	0.3057	M	0.77712	2.385	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.984;0.985	T	0.57946	-0.7723	9	0.87932	D	0	.	10.5414	0.45035	0.0:0.0:1.0:0.0	.	24;47	F8W6E0;P78410	.;BT3A2_HUMAN	H	5;5;47;47;47;47;24;47;47;5	ENSP00000435952:D5H;ENSP00000434102:D5H;ENSP00000433749:D47H;ENSP00000432138:D47H;ENSP00000348751:D47H;ENSP00000380140:D24H;ENSP00000366937:D47H;ENSP00000380152:D47H;ENSP00000442687:D5H	ENSP00000348751:D47H	D	+	1	0	BTN3A2	26476825	0.239000	0.23836	0.033000	0.17914	0.898000	0.52572	2.666000	0.46799	1.691000	0.51100	0.405000	0.27470	GAC		0.572	BTN3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040113.2			6	141	0	0	0	1	0	6	141				
BMP2K	55589	broad.mit.edu	37	4	79791963	79791963	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr4:79791963G>A	ENST00000335016.5	+	11	1424	c.1258G>A	c.(1258-1260)Gaa>Aaa	p.E420K	BMP2K_ENST00000502871.1_Missense_Mutation_p.E420K	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	420					regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						AAATGGCCCTGAAATTTTATT	0.438																																						ENST00000335016.5																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1258-1260)Gaa>Aaa		BMP2 inducible kinase							68.0	71.0	70.0					4																	79791963		2203	4300	6503	SO:0001583	missense	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79791963G>A	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1258G>A	4.37:g.79791963G>A	ENSP00000334836:p.Glu420Lys					BMP2K_ENST00000502871.1_Missense_Mutation_p.E420K	p.E420K	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			11	1424	+			420					O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	37	c.1258G>A	CCDS47083.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.278732	0.23307	.	.	ENSG00000138756	ENST00000502871;ENST00000335016;ENST00000264889	D;T	0.84516	-1.86;-0.62	5.57	5.57	0.84162	.	0.625144	0.14334	N	0.326125	T	0.79149	0.4397	L	0.50333	1.59	0.33226	D	0.555319	P;P	0.39282	0.666;0.483	B;B	0.33339	0.162;0.058	T	0.78994	-0.1984	10	0.09084	T	0.74	-5.9429	15.5233	0.75881	0.0:0.1386:0.8614:0.0	.	420;420	Q9NSY1;Q4W5H2	BMP2K_HUMAN;.	K	420;420;434	ENSP00000421768:E420K;ENSP00000334836:E420K	ENSP00000264889:E434K	E	+	1	0	BMP2K	80010987	1.000000	0.71417	0.759000	0.31340	0.008000	0.06430	4.594000	0.61041	2.615000	0.88500	0.557000	0.71058	GAA		0.438	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		10	69	0	0	0	1	0	10	69				
JAK2	3717	broad.mit.edu	37	9	5022188	5022188	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr9:5022188C>G	ENST00000381652.3	+	3	695	c.201C>G	c.(199-201)atC>atG	p.I67M	JAK2_ENST00000539801.1_Missense_Mutation_p.I67M	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	67	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with cytokine/interferon/growth hormone receptors. {ECO:0000250}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	CAGAAGAAATCTGTATTGCTG	0.358		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																													ENST00000381652.3		1		Dom	yes		9	9p24	3717	"""T, Mis, O"""	Janus kinase 2			L	"""ETV6, PCM1, BCR"""		"""ALL, AML, MPD,  CML"""	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998						c.(199-201)atC>atG		Janus kinase 2							118.0	118.0	118.0					9																	5022188		2203	4300	6503	SO:0001583	missense	3717	Polycythemia Vera, Familial	Familial Cancer Database		actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	g.chr9:5022188C>G		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.201C>G	9.37:g.5022188C>G	ENSP00000371067:p.Ile67Met					JAK2_ENST00000539801.1_Missense_Mutation_p.I67M	p.I67M	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	3	695	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	67			FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).		O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	c.201C>G	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.153652	0.38021	.	.	ENSG00000096968	ENST00000539801;ENST00000381652	T;T	0.42900	0.96;0.96	5.57	1.94	0.25998	Band 4.1 domain (1);FERM domain (1);	0.130205	0.51477	D	0.000081	T	0.23249	0.0562	L	0.33485	1.01	0.80722	D	1	P	0.45902	0.868	B	0.36666	0.23	T	0.03473	-1.1033	9	.	.	.	-14.302	4.6696	0.12682	0.1326:0.2995:0.0:0.568	.	67	O60674	JAK2_HUMAN	M	67	ENSP00000440387:I67M;ENSP00000371067:I67M	.	I	+	3	3	JAK2	5012188	0.981000	0.34729	1.000000	0.80357	0.934000	0.57294	-0.016000	0.12613	0.084000	0.17077	-0.384000	0.06662	ATC		0.358	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			14	64	0	0	0	1	0	14	64				
HDAC9	9734	broad.mit.edu	37	7	18669051	18669051	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr7:18669051G>A	ENST00000432645.2	+	6	734	c.734G>A	c.(733-735)cGg>cAg	p.R245Q	HDAC9_ENST00000428307.2_Intron|HDAC9_ENST00000401921.1_Intron|HDAC9_ENST00000405010.3_Missense_Mutation_p.R245Q|HDAC9_ENST00000441542.2_Missense_Mutation_p.R248Q|HDAC9_ENST00000524023.1_Intron|HDAC9_ENST00000456174.2_Missense_Mutation_p.R217Q|HDAC9_ENST00000406451.4_Missense_Mutation_p.R245Q|HDAC9_ENST00000417496.2_Intron|HDAC9_ENST00000406072.1_Intron	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	245	Interaction with ETV6.|Interaction with MAPK10. {ECO:0000250}.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TTACTCAGGCGGAAGGATGGA	0.478																																						ENST00000406451.3																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82						c.(733-735)cGg>cAg		histone deacetylase 9	Valproic Acid(DB00313)						75.0	74.0	74.0					7																	18669051		1929	4135	6064	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18669051G>A	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.734G>A	7.37:g.18669051G>A	ENSP00000410337:p.Arg245Gln					HDAC9_ENST00000432645.2_Missense_Mutation_p.R245Q|HDAC9_ENST00000428307.2_Intron|HDAC9_ENST00000417496.2_Intron|HDAC9_ENST00000441542.2_Missense_Mutation_p.R248Q|HDAC9_ENST00000406072.1_Intron|HDAC9_ENST00000405010.3_Missense_Mutation_p.R245Q|HDAC9_ENST00000401921.1_Intron|HDAC9_ENST00000456174.2_Missense_Mutation_p.R217Q|HDAC9_ENST00000524023.1_Intron	p.R245Q	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN			7	884	+	all_lung(11;0.187)		245			Interaction with ETV6.|Interaction with MAPK10 (By similarity).		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.734G>A	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.085655	0.76642	.	.	ENSG00000048052	ENST00000405010;ENST00000406451;ENST00000432645;ENST00000441542;ENST00000456174;ENST00000341009	T;T;T;T;T	0.72505	-0.22;-0.66;-0.66;-0.65;-0.21	5.95	5.95	0.96441	.	0.000000	0.52532	D	0.000068	D	0.85155	0.5632	M	0.74647	2.275	0.80722	D	1	P;D;D;D;D;B;D;P	0.89917	0.893;1.0;1.0;1.0;0.959;0.342;1.0;0.935	B;D;D;D;B;B;D;B	0.83275	0.179;0.996;0.988;0.996;0.153;0.074;0.996;0.333	D	0.85296	0.1070	10	0.72032	D	0.01	-6.503	20.3747	0.98911	0.0:0.0:1.0:0.0	.	217;245;248;248;245;217;245;245	C9JS87;Q9UKV0-4;Q68D71;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3	.;.;.;.;HDAC9_HUMAN;.;.;.	Q	245;245;245;248;217;245	ENSP00000384382:R245Q;ENSP00000384657:R245Q;ENSP00000410337:R245Q;ENSP00000408617:R248Q;ENSP00000388568:R217Q	ENSP00000339165:R245Q	R	+	2	0	HDAC9	18635576	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.378000	0.97191	2.817000	0.96982	0.563000	0.77884	CGG		0.478	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			15	32	0	0	0	1	0	15	32				
PRSS3P2	154754	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493																																						ENST00000603901.1																			1	Substitution - coding silent(1)	p.P203P(1)	prostate(1)																																																154754							g.chr7:142482229T>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482229T>A								NR_001296.3						0	609	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.493	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		4	38	0	0	0	1	0	4	38				
ST3GAL3	6487	broad.mit.edu	37	1	44303916	44303916	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr1:44303916G>A	ENST00000361392.4	+	5	412	c.235G>A	c.(235-237)Gca>Aca	p.A79T	ST3GAL3_ENST00000262915.3_Missense_Mutation_p.A148T|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.A117T|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.A148T|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.A63T|ST3GAL3_ENST00000531451.1_Missense_Mutation_p.A63T|ST3GAL3_ENST00000372362.2_Missense_Mutation_p.A79T|ST3GAL3_ENST00000330208.2_Missense_Mutation_p.A79T|ST3GAL3_ENST00000372367.1_Missense_Mutation_p.A78T|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.A79T|ST3GAL3_ENST00000353126.3_Missense_Mutation_p.A79T|ST3GAL3_ENST00000372374.2_Intron|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.A133T|ST3GAL3_ENST00000531816.1_Missense_Mutation_p.A63T|ST3GAL3_ENST00000372366.1_Missense_Mutation_p.A78T|ST3GAL3_ENST00000332628.6_Intron|ST3GAL3_ENST00000361812.4_Missense_Mutation_p.A94T|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000533933.1_Missense_Mutation_p.A79T|ST3GAL3_ENST00000335430.6_Missense_Mutation_p.A63T|ST3GAL3_ENST00000531993.1_Missense_Mutation_p.A63T|ST3GAL3_ENST00000545417.1_Missense_Mutation_p.A94T|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.A94T|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.A117T|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.A133T|ST3GAL3_ENST00000372377.4_Missense_Mutation_p.A79T|ST3GAL3_ENST00000372365.1_Missense_Mutation_p.A79T|ST3GAL3_ENST00000528371.1_Missense_Mutation_p.A63T	NM_001270459.1|NM_006279.3|NM_174964.2	NP_001257388.1|NP_006270.1|NP_777624.1	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	79					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|N-acetyllactosaminide alpha-2,3-sialyltransferase activity (GO:0008118)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				CACCAAGTACGCAAACTTTTC	0.512																																						ENST00000262915.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19						c.(442-444)Gca>Aca		ST3 beta-galactoside alpha-2,3-sialyltransferase 3							238.0	229.0	232.0					1																	44303916		2203	4300	6503	SO:0001583	missense	6487				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity	g.chr1:44303916G>A	L23768	CCDS492.1, CCDS493.1, CCDS494.1, CCDS495.1, CCDS496.1, CCDS497.1, CCDS498.1, CCDS499.1, CCDS500.1, CCDS53310.1, CCDS57988.1, CCDS57989.1, CCDS57990.1, CCDS57991.1, CCDS57992.1, CCDS57993.1, CCDS57994.1	1p34.1	2014-01-31	2005-02-07	2005-02-07	ENSG00000126091	ENSG00000126091	2.4.99.6	"""Sialyltransferases"""	10866	protein-coding gene	gene with protein product	"""ST3Gal III"""	606494	"""sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)"", ""mental retardation, non-syndromic, autosomal recessive, 12"""	SIAT6, MRT12		8333853, 21907012	Standard	NM_174963		Approved		uc001cjz.4	Q11203	OTTHUMG00000007561	ENST00000361392.4:c.235G>A	1.37:g.44303916G>A	ENSP00000355341:p.Ala79Thr					ST3GAL3_ENST00000372366.1_Missense_Mutation_p.A78T|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.A148T|ST3GAL3_ENST00000330208.2_Missense_Mutation_p.A79T|ST3GAL3_ENST00000545417.1_Missense_Mutation_p.A94T|ST3GAL3_ENST00000533933.1_Missense_Mutation_p.A79T|ST3GAL3_ENST00000332628.6_Intron|ST3GAL3_ENST00000372365.1_Missense_Mutation_p.A79T|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.A63T|ST3GAL3_ENST00000531993.1_Missense_Mutation_p.A63T|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.A79T|ST3GAL3_ENST00000531816.1_Missense_Mutation_p.A63T|ST3GAL3_ENST00000531451.1_Missense_Mutation_p.A63T|ST3GAL3_ENST00000353126.3_Missense_Mutation_p.A79T|ST3GAL3_ENST00000528371.1_Missense_Mutation_p.A63T|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.A133T|ST3GAL3_ENST00000372362.2_Missense_Mutation_p.A79T|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.A117T|ST3GAL3_ENST00000372374.2_Intron|ST3GAL3_ENST00000372377.4_Missense_Mutation_p.A79T|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.A133T|ST3GAL3_ENST00000372367.1_Missense_Mutation_p.A78T|ST3GAL3_ENST00000361812.4_Missense_Mutation_p.A94T|ST3GAL3_ENST00000361392.4_Missense_Mutation_p.A79T|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.A117T|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.A94T|ST3GAL3_ENST00000335430.6_Missense_Mutation_p.A63T	p.A148T	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN			6	619	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)	79					A9Z1W2|D3DPX8|Q5T4W9|Q5T4X0|Q5T4X7|Q5T4X8|Q5T4X9|Q5T4Y0|Q5T4Y2|Q5T4Y3|Q5T4Y4|Q86UR6|Q86UR7|Q86UR8|Q86UR9|Q86US0|Q86US1|Q86US2|Q8IX41|Q8IX42|Q8IX43|Q8IX44|Q8IX45|Q8IX46|Q8IX47|Q8IX48|Q8IX49|Q8IX50|Q8IX51|Q8IX52|Q8IX53|Q8IX54|Q8IX55|Q8IX56|Q8IX57|Q8IX58	Missense_Mutation	SNP	ENST00000361392.4	37	c.442G>A	CCDS492.1	.	.	.	.	.	.	.	.	.	.	G	32	5.138795	0.94560	.	.	ENSG00000126091	ENST00000361392;ENST00000361400;ENST00000262915;ENST00000372375;ENST00000351035;ENST00000353126;ENST00000545417;ENST00000330208;ENST00000335430;ENST00000372377;ENST00000347631;ENST00000361812;ENST00000372362;ENST00000531451;ENST00000372369;ENST00000361746;ENST00000372367;ENST00000372366;ENST00000372365;ENST00000372368;ENST00000372372;ENST00000528371;ENST00000531993;ENST00000533933;ENST00000531816	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.80123	0.61;0.91;0.61;0.6;0.61;-0.14;-1.32;-1.33;0.4;-1.34;0.57;-1.32;-1.33;-1.3;0.26;0.61;-0.15;-0.13;-0.15;0.6;0.61;0.41;0.29;-0.14;-1.27	5.13	5.13	0.70059	.	0.361614	0.30658	N	0.009146	D	0.86306	0.5901	L	0.44542	1.39	0.49582	D	0.9998	D;D;D;D;D;D;D;D;D;P;D;P;D;D;D;D	0.89917	0.994;0.994;0.999;0.997;0.999;0.981;1.0;0.997;0.998;0.939;0.997;0.94;0.99;0.967;0.996;0.991	P;P;D;D;P;P;D;P;D;P;P;P;P;P;P;P	0.79108	0.777;0.826;0.988;0.963;0.903;0.481;0.992;0.856;0.929;0.559;0.636;0.559;0.675;0.652;0.666;0.827	D	0.86731	0.1948	10	0.54805	T	0.06	.	17.733	0.88384	0.0:0.0:1.0:0.0	.	63;79;63;78;63;78;79;94;79;117;63;133;79;148;63;94	Q11203-22;Q11203-5;Q11203-17;Q11203-24;Q11203-16;Q11203-23;Q11203-12;Q5T4Y1;Q11203-8;Q11203-19;Q11203-15;Q11203-13;Q11203;Q11203-4;Q11203-18;Q5T4W8	.;.;.;.;.;.;.;.;.;.;.;.;SIAT6_HUMAN;.;.;.	T	79;63;148;133;117;79;94;79;63;79;94;94;79;63;79;148;78;78;79;133;117;63;63;79;63	ENSP00000355341:A79T;ENSP00000354748:A63T;ENSP00000262915:A148T;ENSP00000361450:A133T;ENSP00000316999:A117T;ENSP00000330463:A79T;ENSP00000439634:A94T;ENSP00000333494:A79T;ENSP00000335633:A63T;ENSP00000361452:A79T;ENSP00000317192:A94T;ENSP00000355201:A94T;ENSP00000361437:A79T;ENSP00000435603:A63T;ENSP00000361444:A79T;ENSP00000354657:A148T;ENSP00000361442:A78T;ENSP00000361441:A78T;ENSP00000361440:A79T;ENSP00000361443:A133T;ENSP00000361447:A117T;ENSP00000434876:A63T;ENSP00000432682:A63T;ENSP00000432965:A79T;ENSP00000434378:A63T	ENSP00000262915:A148T	A	+	1	0	ST3GAL3	44076503	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.836000	0.69375	2.557000	0.86248	0.655000	0.94253	GCA		0.512	ST3GAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019964.1	NM_174963		7	343	0	0	0	1	0	7	343				
SHROOM4	57477	broad.mit.edu	37	X	50350983	50350983	+	Silent	SNP	C	C	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chrX:50350983C>A	ENST00000289292.7	-	6	3442	c.3159G>T	c.(3157-3159)ctG>ctT	p.L1053L	SHROOM4_ENST00000376020.2_Silent_p.L1053L|SHROOM4_ENST00000460112.3_Silent_p.L937L			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1053					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CACGGCTGCGCAGTGGGTGGG	0.552																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(3157-3159)ctG>ctT		shroom family member 4							46.0	42.0	43.0					X																	50350983		2203	4300	6503	SO:0001819	synonymous_variant	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50350983C>A	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3159G>T	X.37:g.50350983C>A						SHROOM4_ENST00000289292.7_Silent_p.L1053L|SHROOM4_ENST00000460112.3_Silent_p.L937L	p.L1053L	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			6	3184	-	Ovarian(276;0.236)		1053					A7E2X9|D6RFW0|Q96LA0	Silent	SNP	ENST00000289292.7	37	c.3159G>T	CCDS35277.1																																																																																				0.552	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		30	49	1	0	2.12542e-12	1	2.18934e-12	30	49				
MYO15A	51168	broad.mit.edu	37	17	18035781	18035781	+	Silent	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr17:18035781G>A	ENST00000205890.5	+	11	4559	c.4221G>A	c.(4219-4221)agG>agA	p.R1407R		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1407	Myosin motor.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AAAACGAGAGGAATTACCACA	0.572																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(4219-4221)agG>agA		myosin XVA							62.0	65.0	64.0					17																	18035781		1939	4139	6078	SO:0001819	synonymous_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18035781G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.4221G>A	17.37:g.18035781G>A							p.R1407R	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			11	4559	+	all_neural(463;0.228)		1407			Myosin head-like.		B4DFC7	Silent	SNP	ENST00000205890.5	37	c.4221G>A	CCDS42271.1																																																																																				0.572	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		32	59	0	0	0	1	0	32	59				
MIEF2	125170	broad.mit.edu	37	17	18166073	18166073	+	Silent	SNP	C	C	T	rs138649022		TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr17:18166073C>T	ENST00000323019.4	+	2	250	c.39C>T	c.(37-39)agC>agT	p.S13S	MIEF2_ENST00000395706.2_Silent_p.S24S|MIEF2_ENST00000395704.4_Silent_p.S13S|MIEF2_ENST00000578174.1_Silent_p.S13S|MIEF2_ENST00000395703.4_Silent_p.S13S|MIEF2_ENST00000578621.1_Silent_p.S13S|MIEF2_ENST00000577216.1_Intron	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2	13					mitochondrion organization (GO:0007005)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)											AGCGGCGTAGCGACGAAGGGC	0.677													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16769	0.0		0.0	False		,,,				2504	0.0					ENST00000323019.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9						c.(37-39)agC>agT				C	,,	1,4403	2.1+/-5.4	0,1,2201	48.0	42.0	44.0		39,39,72	-8.3	0.0	17	dbSNP_134	44	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	SMCR7	NM_001144900.1,NM_139162.3,NM_148886.1	,,	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	,,	13/206,13/455,24/466	18166073	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	125170					integral to membrane	protein binding	g.chr17:18166073C>T	BC014973	CCDS11193.1, CCDS45624.1, CCDS45625.1	17p11.2	2013-09-23	2013-09-23	2013-09-23	ENSG00000177427	ENSG00000177427			17920	protein-coding gene	gene with protein product		615498	"""Smith-Magenis syndrome chromosome region, candidate 7"""	SMCR7		11997338, 21508961	Standard	NM_001144900		Approved	MGC23130, MiD49	uc010vxq.2	Q96C03	OTTHUMG00000059392	ENST00000323019.4:c.39C>T	17.37:g.18166073C>T						SMCR7_ENST00000395704.4_Silent_p.S13S|SMCR7_ENST00000395706.2_Silent_p.S24S|SMCR7_ENST00000578621.1_Silent_p.S13S|SMCR7_ENST00000578174.1_Silent_p.S13S|SMCR7_ENST00000395703.4_Silent_p.S13S|SMCR7_ENST00000577216.1_Intron	p.S13S	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	SMCR7_HUMAN			2	250	+	all_neural(463;0.228)		13					J3KPT3|Q6ZRD4|Q96N07	Silent	SNP	ENST00000323019.4	37	c.39C>T	CCDS11193.1																																																																																				0.677	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132060.2	NM_139162		16	48	0	0	0	1	0	16	48				
BAG3	9531	broad.mit.edu	37	10	121429589	121429589	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr10:121429589C>T	ENST00000369085.3	+	2	713	c.407C>T	c.(406-408)tCa>tTa	p.S136L		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	136	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of apoptotic process (GO:0043066)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|Z disc (GO:0030018)				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		AGGTCCCAGTCACCTCTGCGG	0.652																																						ENST00000369085.3																			0				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(406-408)tCa>tTa		BCL2-associated athanogene 3							53.0	59.0	57.0					10																	121429589		2203	4300	6503	SO:0001583	missense	9531				anti-apoptosis|apoptosis|protein folding	cytosol		g.chr10:121429589C>T	AF095193	CCDS7615.1	10q25.2-q26.2	2014-09-17			ENSG00000151929	ENSG00000151929			939	protein-coding gene	gene with protein product		603883				9873016, 18094623	Standard	XM_005270287		Approved		uc001lem.3	O95817	OTTHUMG00000019155	ENST00000369085.3:c.407C>T	10.37:g.121429589C>T	ENSP00000358081:p.Ser136Leu						p.S136L	NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)	2	713	+		Lung NSC(174;0.109)|all_lung(145;0.142)	136			WW 2.		A8K5L8|Q3B763|Q9NT20|Q9P120	Missense_Mutation	SNP	ENST00000369085.3	37	c.407C>T	CCDS7615.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.190671	0.78789	.	.	ENSG00000151929	ENST00000369085;ENST00000450186	T;D	0.82984	-1.07;-1.67	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.73961	0.3654	L	0.27053	0.805	0.58432	D	0.999998	B;B	0.25521	0.128;0.128	B;B	0.19666	0.026;0.026	T	0.70985	-0.4723	10	0.44086	T	0.13	-10.6083	14.5924	0.68378	0.0:0.9286:0.0:0.0714	.	136;136	O95817;Q53GY1	BAG3_HUMAN;.	L	136;78	ENSP00000358081:S136L;ENSP00000410036:S78L	ENSP00000358081:S136L	S	+	2	0	BAG3	121419579	0.995000	0.38212	0.990000	0.47175	0.549000	0.35272	3.294000	0.51787	2.583000	0.87209	0.561000	0.74099	TCA		0.652	BAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050662.1	NM_004281		18	152	0	0	0	1	0	18	152				
MKI67	4288	broad.mit.edu	37	10	129902151	129902151	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr10:129902151C>G	ENST00000368654.3	-	13	8328	c.7953G>C	c.(7951-7953)aaG>aaC	p.K2651N	MKI67_ENST00000368653.3_Missense_Mutation_p.K2291N	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2651	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTGGTTTCTTCTTTGCACGTT	0.527																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(7951-7953)aaG>aaC		marker of proliferation Ki-67							170.0	173.0	172.0					10																	129902151		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129902151C>G	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.7953G>C	10.37:g.129902151C>G	ENSP00000357643:p.Lys2651Asn					MKI67_ENST00000368653.3_Missense_Mutation_p.K2291N	p.K2651N	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	8328	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2651			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.7953G>C	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.901757	0.33535	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.03181	4.02;4.02	3.68	1.31	0.21738	.	1.605020	0.03714	N	0.250747	T	0.10508	0.0257	M	0.68593	2.085	0.09310	N	1	D;D;D	0.62365	0.991;0.969;0.982	P;P;P	0.56514	0.8;0.708;0.749	T	0.29150	-1.0021	10	0.19590	T	0.45	.	4.6352	0.12521	0.0:0.5173:0.0:0.4827	.	2650;2291;2651	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	N	2651;2291;2650	ENSP00000357643:K2651N;ENSP00000357642:K2291N	ENSP00000357642:K2291N	K	-	3	2	MKI67	129792141	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-1.123000	0.03263	0.170000	0.19704	0.563000	0.77884	AAG		0.527	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		22	151	0	0	0	1	0	22	151				
OTUD5	55593	broad.mit.edu	37	X	48792042	48792042	+	Silent	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chrX:48792042C>T	ENST00000156084.4	-	4	912	c.852G>A	c.(850-852)gaG>gaA	p.E284E	OTUD5_ENST00000376488.3_Silent_p.E284E|OTUD5_ENST00000484499.1_5'UTR|OTUD5_ENST00000428668.2_Silent_p.E67E|OTUD5_ENST00000396743.3_Silent_p.E284E	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU deubiquitinase 5	284	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)	ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						TGGCCTGCATCTCAATGTGGT	0.488																																						ENST00000156084.4																			0				endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						c.(850-852)gaG>gaA		OTU domain containing 5							222.0	169.0	187.0					X																	48792042		2203	4300	6503	SO:0001819	synonymous_variant	55593				negative regulation of type I interferon production		cysteine-type peptidase activity	g.chrX:48792042C>T		CCDS14313.1, CCDS48104.1, CCDS48105.1	Xp11.23	2014-06-09	2014-02-24		ENSG00000068308	ENSG00000068308		"""OTU domain containing"""	25402	protein-coding gene	gene with protein product		300713	"""OTU domain containing 5"""			24143256	Standard	NM_001136157		Approved	DKFZp761A052, DUBA	uc004dlu.3	Q96G74	OTTHUMG00000024130	ENST00000156084.4:c.852G>A	X.37:g.48792042C>T						OTUD5_ENST00000428668.2_Silent_p.E67E|OTUD5_ENST00000484499.1_5'UTR|OTUD5_ENST00000376488.3_Silent_p.E284E|OTUD5_ENST00000396743.3_Silent_p.E284E	p.E284E	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN			4	912	-			284			OTU.		B4DGG7|G5E9D7|Q4KMN9|Q8N6T5|Q9H650|Q9H9U0|Q9NT65	Silent	SNP	ENST00000156084.4	37	c.852G>A	CCDS14313.1																																																																																				0.488	OTUD5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000060799.1	NM_017602		81	178	0	0	0	1	0	81	178				
NLRP2	55655	broad.mit.edu	37	19	55494409	55494409	+	Missense_Mutation	SNP	G	G	A	rs371780675		TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr19:55494409G>A	ENST00000543010.1	+	6	1486	c.1343G>A	c.(1342-1344)cGg>cAg	p.R448Q	NLRP2_ENST00000339757.7_Missense_Mutation_p.R426Q|NLRP2_ENST00000427260.2_Missense_Mutation_p.R425Q|NLRP2_ENST00000537859.1_Missense_Mutation_p.R426Q|NLRP2_ENST00000538819.1_Missense_Mutation_p.R424Q|NLRP2_ENST00000263437.6_Missense_Mutation_p.R445Q|NLRP2_ENST00000391721.4_Missense_Mutation_p.R424Q|NLRP2_ENST00000448584.2_Missense_Mutation_p.R448Q	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	448	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GGCGCGCTGCGGACGCTGAGC	0.721																																						ENST00000543010.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(1342-1344)cGg>cAg		NLR family, pyrin domain containing 2		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4344		0,0,2172	13.0	14.0	14.0		1343,1277,1274,1343	-0.4	0.0	19		14	1,8461		0,1,4230	no	missense,missense,missense,missense	NLRP2	NM_001174081.1,NM_001174082.1,NM_001174083.1,NM_017852.3	43,43,43,43	0,1,6402	AA,AG,GG		0.0118,0.0,0.0078	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	448/1063,426/1041,425/1040,448/1063	55494409	1,12805	2172	4231	6403	SO:0001583	missense	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55494409G>A	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1343G>A	19.37:g.55494409G>A	ENSP00000445135:p.Arg448Gln					NLRP2_ENST00000391721.4_Missense_Mutation_p.R424Q|NLRP2_ENST00000538819.1_Missense_Mutation_p.R424Q|NLRP2_ENST00000448584.2_Missense_Mutation_p.R448Q|NLRP2_ENST00000537859.1_Missense_Mutation_p.R426Q|NLRP2_ENST00000263437.6_Missense_Mutation_p.R445Q|NLRP2_ENST00000339757.7_Missense_Mutation_p.R426Q|NLRP2_ENST00000427260.2_Missense_Mutation_p.R425Q	p.R448Q	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	1486	+			448			NACHT.		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	c.1343G>A	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.300148	0.23650	0.0	1.18E-4	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.75154	-0.89;-0.81;-0.83;-0.89;-0.83;-0.91;-0.81;-0.89	1.9	-0.426	0.12314	.	2.445410	0.02600	N	0.100996	T	0.54775	0.1879	L	0.33485	1.01	0.09310	N	1	P;B;B;B;B	0.43607	0.812;0.434;0.308;0.434;0.308	B;B;B;B;B	0.29663	0.105;0.05;0.022;0.05;0.022	T	0.49173	-0.8967	10	0.24483	T	0.36	.	3.5817	0.07955	0.2914:0.5031:0.2055:0.0	.	425;426;445;424;448	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	Q	448;424;426;448;426;425;424;445	ENSP00000445135:R448Q;ENSP00000375601:R424Q;ENSP00000344074:R426Q;ENSP00000409370:R448Q;ENSP00000440601:R426Q;ENSP00000402474:R425Q;ENSP00000441133:R424Q;ENSP00000263437:R445Q	ENSP00000263437:R445Q	R	+	2	0	NLRP2	60186221	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.344000	0.07780	-0.117000	0.11872	0.556000	0.70494	CGG		0.721	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		8	49	0	0	0	1	0	8	49				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			650368							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			5	74	0	0	0	1	0	5	74				
ZNF564	163050	broad.mit.edu	37	19	12638522	12638522	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr19:12638522G>C	ENST00000339282.7	-	4	596	c.400C>G	c.(400-402)Cag>Gag	p.Q134E	CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron|CTD-2192J16.21_ENST00000601420.1_RNA	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	134					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						CCATATTCCTGATAGTCATAT	0.408																																						ENST00000339282.7																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(400-402)Cag>Gag		zinc finger protein 564							106.0	111.0	109.0					19																	12638522		2182	4290	6472	SO:0001583	missense	163050							g.chr19:12638522G>C	BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"""Zinc fingers, C2H2-type"", ""-"""	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.400C>G	19.37:g.12638522G>C	ENSP00000340004:p.Gln134Glu					ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR	p.Q134E	NM_144976.3	NP_659413.1					4	596	-								B9EGT4|Q6P1K6	Missense_Mutation	SNP	ENST00000339282.7	37	c.400C>G	CCDS42505.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.185781	0.38609	.	.	ENSG00000249709	ENST00000339282	T	0.35605	1.3	1.71	-0.755	0.11061	.	.	.	.	.	T	0.15652	0.0377	N	0.01297	-0.9	0.09310	N	0.999997	P	0.41041	0.736	B	0.44278	0.445	T	0.28235	-1.0050	9	0.26408	T	0.33	.	10.4425	0.44474	0.0:0.5881:0.4119:0.0	.	134	Q8TBZ8	ZN564_HUMAN	E	134	ENSP00000340004:Q134E	ENSP00000340004:Q134E	Q	-	1	0	ZNF564	12499522	.	.	0.001000	0.08648	0.290000	0.27261	.	.	-0.103000	0.12175	0.643000	0.83706	CAG		0.408	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344120.2	NM_144976		11	63	0	0	0	1	0	11	63				
LAMC1	3915	broad.mit.edu	37	1	183077530	183077530	+	Silent	SNP	T	T	G			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr1:183077530T>G	ENST00000258341.4	+	3	1100	c.843T>G	c.(841-843)gcT>gcG	p.A281A		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	281	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						CTGATTTTGCTGTAGGTGGCA	0.363																																						ENST00000258341.4																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						c.(841-843)gcT>gcG		laminin, gamma 1 (formerly LAMB2)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						106.0	100.0	102.0					1																	183077530		2203	4300	6503	SO:0001819	synonymous_variant	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183077530T>G	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.843T>G	1.37:g.183077530T>G							p.A281A	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN			3	1100	+			281			Laminin N-terminal.		Q5VYE7	Silent	SNP	ENST00000258341.4	37	c.843T>G	CCDS1351.1																																																																																				0.363	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		8	32	0	0	0	1	0	8	32				
MPP4	58538	broad.mit.edu	37	2	202549820	202549820	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr2:202549820T>C	ENST00000409474.3	-	7	748	c.541A>G	c.(541-543)Agg>Ggg	p.R181G	MPP4_ENST00000396886.3_Missense_Mutation_p.R137G|MPP4_ENST00000409143.1_Missense_Mutation_p.R154G|MPP4_ENST00000447335.2_Missense_Mutation_p.R181G|MPP4_ENST00000359962.5_Missense_Mutation_p.R181G|MPP4_ENST00000428900.2_Missense_Mutation_p.R181G|MPP4_ENST00000315506.7_Missense_Mutation_p.R181G	NM_033066.2	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	181	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein localization to synapse (GO:0035418)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)				kidney(1)|lung(11)	12						TGGATGATCCTGGCCACCAAG	0.522																																						ENST00000409474.3																			0				kidney(1)|lung(11)	12						c.(541-543)Agg>Ggg		membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)							45.0	45.0	45.0					2																	202549820		2011	4193	6204	SO:0001583	missense	58538					cytoplasm	protein binding	g.chr2:202549820T>C	AF316032	CCDS46491.1	2q33.2	2008-05-15			ENSG00000082126	ENSG00000082126			13680	protein-coding gene	gene with protein product		606575		DLG6		11414766	Standard	NM_033066		Approved		uc002uyk.4	Q96JB8	OTTHUMG00000154525	ENST00000409474.3:c.541A>G	2.37:g.202549820T>C	ENSP00000387278:p.Arg181Gly					MPP4_ENST00000396886.3_Missense_Mutation_p.R137G|MPP4_ENST00000428900.2_Missense_Mutation_p.R181G|MPP4_ENST00000409143.1_Missense_Mutation_p.R154G|MPP4_ENST00000359962.5_Missense_Mutation_p.R181G|MPP4_ENST00000447335.2_Missense_Mutation_p.R181G|MPP4_ENST00000315506.7_Missense_Mutation_p.R181G	p.R181G	NM_033066.2	NP_149055.1	Q96JB8	MPP4_HUMAN			7	748	-			181			PDZ.		C9IZK4|Q53TT3|Q6ZNH6|Q96Q43|Q96Q44	Missense_Mutation	SNP	ENST00000409474.3	37	c.541A>G	CCDS46491.1	.	.	.	.	.	.	.	.	.	.	T	18.52	3.640975	0.67244	.	.	ENSG00000082126	ENST00000409474;ENST00000315506;ENST00000396886;ENST00000359962;ENST00000315549;ENST00000374605;ENST00000428900;ENST00000409143;ENST00000447335	T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62	5.89	4.72	0.59763	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.55986	0.1955	M	0.80746	2.51	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;0.998;0.999;1.0;0.999;0.999;0.998	D;D;D;D;D;D;D;D;D;D	0.80764	0.969;0.994;0.986;0.982;0.969;0.986;0.987;0.987;0.986;0.988	T	0.60409	-0.7269	10	0.87932	D	0	.	11.7389	0.51781	0.0:0.0:0.2995:0.7005	.	154;137;181;181;181;181;137;194;181;137	F6Q0Y6;B4DUF3;E7ET46;B7ZM19;Q96JB8-2;E7EUL8;F8WC25;F8WBH8;Q96JB8;Q96JB8-4	.;.;.;.;.;.;.;.;MPP4_HUMAN;.	G	181;181;137;181;137;110;181;154;181	ENSP00000387278:R181G;ENSP00000319363:R181G;ENSP00000353047:R181G;ENSP00000416781:R181G;ENSP00000387293:R154G;ENSP00000406160:R181G	ENSP00000319363:R181G	R	-	1	2	MPP4	202258065	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	3.905000	0.56333	1.031000	0.39867	-0.313000	0.08912	AGG		0.522	MPP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335748.2			15	10	0	0	0	1	0	15	10				
PSG3	5671	broad.mit.edu	37	19	43237035	43237035	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr19:43237035G>C	ENST00000327495.5	-	3	794	c.610C>G	c.(610-612)Cta>Gta	p.L204V	PSG3_ENST00000490592.1_5'Flank|PSG3_ENST00000595140.1_Missense_Mutation_p.L204V	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	204	Ig-like C2-type 1.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				ACACCAAATAGAAAGAGGGTC	0.517																																						ENST00000327495.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(610-612)Cta>Gta		pregnancy specific beta-1-glycoprotein 3							243.0	247.0	246.0					19																	43237035		2203	4300	6503	SO:0001583	missense	5671				defense response|female pregnancy	extracellular region		g.chr19:43237035G>C		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.610C>G	19.37:g.43237035G>C	ENSP00000332215:p.Leu204Val					PSG3_ENST00000595140.1_Missense_Mutation_p.L204V	p.L204V	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN			3	794	-		Prostate(69;0.00682)	204			Ig-like C2-type 1.		Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	c.610C>G	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	-	0.010	-1.746072	0.00669	.	.	ENSG00000221826	ENST00000327495	T	0.11277	2.79	1.59	-3.18	0.05186	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.13927	0.0337	M	0.62723	1.935	0.09310	N	1	P;B	0.35456	0.502;0.052	P;B	0.46339	0.513;0.082	T	0.32428	-0.9907	9	0.51188	T	0.08	.	0.1039	0.00050	0.3564:0.207:0.1814:0.2552	.	182;204	Q08266;Q16557	.;PSG3_HUMAN	V	204	ENSP00000332215:L204V	ENSP00000332215:L204V	L	-	1	2	PSG3	47928875	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.387000	0.01060	-3.793000	0.00106	-2.660000	0.00147	CTA		0.517	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		154	315	0	0	0	1	0	154	315				
FLG	2312	broad.mit.edu	37	1	152278837	152278837	+	Missense_Mutation	SNP	C	C	T	rs556196419	byFrequency	TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr1:152278837C>T	ENST00000368799.1	-	3	8560	c.8525G>A	c.(8524-8526)cGt>cAt	p.R2842H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2842	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCTCATTACGTGTTGTTCT	0.567									Ichthyosis				C|||	2	0.000399361	0.0015	0.0	5008	,	,		31472	0.0		0.0	False		,,,				2504	0.0					ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(8524-8526)cGt>cAt		filaggrin							339.0	507.0	451.0					1																	152278837		2160	4299	6459	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152278837C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8525G>A	1.37:g.152278837C>T	ENSP00000357789:p.Arg2842His					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.R2842H	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	8560	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2842			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.8525G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	8.019	0.759119	0.15846	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.01705	4.68	2.05	-4.1	0.03940	.	.	.	.	.	T	0.00580	0.0019	L	0.49350	1.555	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42224	-0.9464	9	0.49607	T	0.09	1.9419	3.9477	0.09355	0.0:0.2517:0.3008:0.4476	.	2842	P20930	FILA_HUMAN	H	2842;104	ENSP00000357789:R2842H	ENSP00000357786:R104H	R	-	2	0	FLG	150545461	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.898000	0.00705	-1.535000	0.01740	-0.699000	0.03677	CGT		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		8	1042	0	0	0	1	0	8	1042				
CHST12	55501	broad.mit.edu	37	7	2472414	2472414	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr7:2472414C>T	ENST00000258711.6	+	2	275	c.140C>T	c.(139-141)cCg>cTg	p.P47L		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	47					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		CACACGGGGCCGCCGCTGCCC	0.642																																						ENST00000258711.6																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(139-141)cCg>cTg		carbohydrate (chondroitin 4) sulfotransferase 12							46.0	52.0	50.0					7																	2472414		2203	4300	6503	SO:0001583	missense	55501				dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding	g.chr7:2472414C>T	AF239822	CCDS5333.1	7p22	2007-03-14			ENSG00000136213	ENSG00000136213	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17423	protein-coding gene	gene with protein product		610129				10781601	Standard	NM_018641		Approved	C4S-2, C4ST2	uc021zyu.1	Q9NRB3	OTTHUMG00000023849	ENST00000258711.6:c.140C>T	7.37:g.2472414C>T	ENSP00000258711:p.Pro47Leu						p.P47L	NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)	2	275	+		Ovarian(82;0.0253)	47					A4D1Z9|Q502W3|Q9NXY7	Missense_Mutation	SNP	ENST00000258711.6	37	c.140C>T	CCDS5333.1	.	.	.	.	.	.	.	.	.	.	C	2.070	-0.413395	0.04799	.	.	ENSG00000136213	ENST00000258711;ENST00000432336	T;T	0.60920	0.15;0.99	4.76	-2.43	0.06522	.	5.710870	0.01028	N	0.004090	T	0.34250	0.0891	N	0.08118	0	0.09310	N	1	B	0.26318	0.146	B	0.17098	0.017	T	0.14671	-1.0464	10	0.29301	T	0.29	-8.1797	6.6328	0.22867	0.2756:0.3859:0.3385:0.0	.	47	Q9NRB3	CHSTC_HUMAN	L	47	ENSP00000258711:P47L;ENSP00000411207:P47L	ENSP00000258711:P47L	P	+	2	0	CHST12	2438940	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.304000	0.08199	-0.358000	0.08162	-0.494000	0.04653	CCG		0.642	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060170.3	NM_018641		66	122	0	0	0	1	0	66	122				
FBXW2	26190	broad.mit.edu	37	9	123538450	123538450	+	Missense_Mutation	SNP	T	T	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr9:123538450T>A	ENST00000608872.1	-	5	927	c.740A>T	c.(739-741)gAc>gTc	p.D247V	FBXW2_ENST00000340778.5_Missense_Mutation_p.D182V|FBXW2_ENST00000493559.1_5'UTR	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	247					cellular protein modification process (GO:0006464)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						CACAGTGAAGTCTGCAGAGCC	0.458																																						ENST00000373926.3																			0				ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						c.(739-741)gAc>gTc		F-box and WD repeat domain containing 2							127.0	131.0	130.0					9																	123538450		2063	4218	6281	SO:0001583	missense	26190				proteolysis		protein binding|ubiquitin-protein ligase activity	g.chr9:123538450T>A	AF129531	CCDS43872.1	9q34	2013-01-09	2007-02-08		ENSG00000119402	ENSG00000119402		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13608	protein-coding gene	gene with protein product		609071	"""F-box and WD-40 domain protein 2"""			10531035, 10828603	Standard	NM_012164		Approved	FBW2, Md6, Fwd2	uc004bkm.1	Q9UKT8	OTTHUMG00000020576	ENST00000608872.1:c.740A>T	9.37:g.123538450T>A	ENSP00000476369:p.Asp247Val					FBXW2_ENST00000340778.5_Missense_Mutation_p.D182V|FBXW2_ENST00000493559.1_5'UTR	p.D247V	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN			5	927	-			247					B3KRL8|Q4VXH2|Q7Z4V6|Q8WV51|Q9HA09|Q9UKA3	Missense_Mutation	SNP	ENST00000608872.1	37	c.740A>T	CCDS43872.1	.	.	.	.	.	.	.	.	.	.	T	31	5.069881	0.93950	.	.	ENSG00000119402	ENST00000373926;ENST00000340778;ENST00000444833;ENST00000453291	D;D;D	0.89415	-2.51;-2.51;-2.51	5.18	5.18	0.71444	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.96632	0.8901	H	0.98682	4.3	0.80722	D	1	D;D;D	0.76494	0.994;0.999;0.997	P;D;D	0.87578	0.799;0.998;0.997	D	0.97814	1.0252	10	0.87932	D	0	-8.764	13.2752	0.60184	0.0:0.0:0.0:1.0	.	182;247;247	Q9UKT8-2;B2RAW3;Q9UKT8	.;.;FBXW2_HUMAN	V	247;182;247;118	ENSP00000363036:D247V;ENSP00000341161:D182V;ENSP00000398662:D118V	ENSP00000341161:D182V	D	-	2	0	FBXW2	122578271	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.032000	0.88838	2.079000	0.62486	0.460000	0.39030	GAC		0.458	FBXW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053834.2			39	75	0	0	0	1	0	39	75				
EOMES	8320	broad.mit.edu	37	3	27759290	27759290	+	Intron	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr3:27759290G>A	ENST00000295743.4	-	6	1583				EOMES_ENST00000461503.1_5'Flank|EOMES_ENST00000537516.1_Silent_p.T168T|EOMES_ENST00000449599.1_Silent_p.T463T			O95936	EOMES_HUMAN	eomesodermin						brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						TTTCTGAAGCGGTGTACATGC	0.433																																						ENST00000449599.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						c.(1387-1389)acC>acT		eomesodermin							23.0	24.0	24.0					3																	27759290		2188	4295	6483	SO:0001627	intron_variant	8320				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:27759290G>A	BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"""T-boxes"""	3372	protein-coding gene	gene with protein product	"""T-box brain2"""	604615	"""eomesodermin (Xenopus laevis) homolog"""			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.1380-48C>T	3.37:g.27759290G>A						EOMES_ENST00000295743.4_Intron|EOMES_ENST00000537516.1_Silent_p.T168T	p.T463T	NM_001278182.1|NM_005442.2	NP_001265111.1|NP_005433.2	O95936	EOMES_HUMAN			6	1406	-			460					B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Silent	SNP	ENST00000295743.4	37	c.1389C>T	CCDS2646.1																																																																																				0.433	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442		11	16	0	0	0	1	0	11	16				
NMT1	4836	broad.mit.edu	37	17	43163902	43163902	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr17:43163902C>G	ENST00000592782.1	+	4	398	c.267C>G	c.(265-267)atC>atG	p.I89M	NMT1_ENST00000258960.2_Missense_Mutation_p.I89M|NMT1_ENST00000590114.1_3'UTR			P30419	NMT1_HUMAN	N-myristoyltransferase 1	89					apoptotic process (GO:0006915)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				CAGAGAGGATCCAGGAAATAC	0.463																																						ENST00000592782.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8						c.(265-267)atC>atG		N-myristoyltransferase 1							81.0	67.0	71.0					17																	43163902		2203	4300	6503	SO:0001583	missense	4836				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity	g.chr17:43163902C>G		CCDS11494.1	17q21.31	2012-10-02			ENSG00000136448	ENSG00000136448			7857	protein-coding gene	gene with protein product	"""alternative, short form NMT-S"", ""myristoyl-CoA:protein N-myristoyltransferase"", ""long form, NMT-L"""	160993				1570339	Standard	NM_021079		Approved	NMT	uc002ihz.3	P30419	OTTHUMG00000180003	ENST00000592782.1:c.267C>G	17.37:g.43163902C>G	ENSP00000468424:p.Ile89Met					NMT1_ENST00000590114.1_3'UTR|NMT1_ENST00000258960.2_Missense_Mutation_p.I89M	p.I89M			P30419	NMT1_HUMAN			4	398	+		Prostate(33;0.155)	89					A8K7C1|Q9UE09	Missense_Mutation	SNP	ENST00000592782.1	37	c.267C>G	CCDS11494.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.257660	0.39896	.	.	ENSG00000136448	ENST00000258960;ENST00000543908	T;T	0.47528	0.84;0.94	5.53	5.53	0.82687	.	0.054779	0.64402	D	0.000001	T	0.40272	0.1110	L	0.31926	0.97	0.39811	D	0.972703	B	0.15141	0.012	B	0.14578	0.011	T	0.22730	-1.0208	10	0.52906	T	0.07	-9.0162	15.968	0.79987	0.0:0.8654:0.1346:0.0	.	89	P30419	NMT1_HUMAN	M	89	ENSP00000258960:I89M;ENSP00000439263:I89M	ENSP00000258960:I89M	I	+	3	3	NMT1	40519428	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.156000	0.31712	2.882000	0.98803	0.655000	0.94253	ATC		0.463	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449239.1	NM_021079		5	28	0	0	0	1	0	5	28				
SKIV2L	6499	broad.mit.edu	37	6	31930834	31930834	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr6:31930834G>A	ENST00000375394.2	+	13	1482	c.1369G>A	c.(1369-1371)Gtc>Atc	p.V457I	SKIV2L_ENST00000544581.1_Missense_Mutation_p.V264I	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	457	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GAGTGCCACCGTCCCCAACGC	0.592																																						ENST00000375394.2																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						c.(1369-1371)Gtc>Atc		superkiller viralicidic activity 2-like (S. cerevisiae)							128.0	97.0	109.0					6																	31930834		1511	2709	4220	SO:0001583	missense	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31930834G>A		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.1369G>A	6.37:g.31930834G>A	ENSP00000364543:p.Val457Ile					SKIV2L_ENST00000544581.1_Missense_Mutation_p.V264I	p.V457I	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN			13	1482	+			457			Helicase ATP-binding.		O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	37	c.1369G>A	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.583656	0.65992	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.70516	-0.49;-0.49	4.85	4.85	0.62838	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.73305	0.3570	L	0.41027	1.25	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.72830	-0.4174	10	0.41790	T	0.15	-25.1635	16.8971	0.86102	0.0:0.0:1.0:0.0	.	457	Q15477	SKIV2_HUMAN	I	457;299;264	ENSP00000364543:V457I;ENSP00000442645:V264I	ENSP00000364543:V457I	V	+	1	0	SKIV2L	32038813	1.000000	0.71417	0.945000	0.38365	0.086000	0.17979	3.670000	0.54569	2.520000	0.84964	0.650000	0.86243	GTC		0.592	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			4	105	0	0	0	1	0	4	105				
FCGBP	8857	broad.mit.edu	37	19	40395941	40395941	+	Missense_Mutation	SNP	G	G	A	rs587637259		TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr19:40395941G>A	ENST00000221347.6	-	15	7463	c.7456C>T	c.(7456-7458)Cgg>Tgg	p.R2486W		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2486	VWFD 6. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGGCCAGGCCGGGTGCCGCAG	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		26234	0.001		0.0	False		,,,				2504	0.0					ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(7456-7458)Cgg>Tgg		Fc fragment of IgG binding protein							195.0	162.0	174.0					19																	40395941		2147	3948	6095	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40395941G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.7456C>T	19.37:g.40395941G>A	ENSP00000221347:p.Arg2486Trp						p.R2486W	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		15	7463	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		2486			VWFD 6.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.7456C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.548631	0.45383	.	.	ENSG00000090920	ENST00000221347	T	0.59772	0.24	2.91	1.79	0.24919	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.71567	0.3355	M	0.81497	2.545	0.09310	N	1	D	0.89917	1.0	D	0.77557	0.99	T	0.57283	-0.7838	9	0.59425	D	0.04	.	5.1124	0.14815	0.0:0.222:0.5271:0.2509	.	2486	Q9Y6R7	FCGBP_HUMAN	W	2486	ENSP00000221347:R2486W	ENSP00000221347:R2486W	R	-	1	2	FCGBP	45087781	0.000000	0.05858	0.002000	0.10522	0.034000	0.12701	-0.188000	0.09642	0.494000	0.27859	0.298000	0.19748	CGG		0.632	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		5	251	0	0	0	1	0	5	251				
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	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"""		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cAg	Other conserved DNA damage response genes	tumor protein p53		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>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.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	HNSCC(1;<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_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q	p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	875	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|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.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		30	65	0	0	0	1	0	30	65				
WIZ	58525	broad.mit.edu	37	19	15538235	15538235	+	Silent	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr19:15538235G>A	ENST00000389282.4	-	6	3423	c.3210C>T	c.(3208-3210)ggC>ggT	p.G1070G	WIZ_ENST00000599686.3_Silent_p.G254G|WIZ_ENST00000263381.7_Silent_p.G213G|WIZ_ENST00000545156.1_Silent_p.G384G|WIZ_ENST00000599910.2_Silent_p.G387G			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1070					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						ACTCGGTCACGCCCATTTGCC	0.637																																						ENST00000389282.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(3208-3210)ggC>ggT		widely interspaced zinc finger motifs							33.0	34.0	34.0					19																	15538235		2078	4197	6275	SO:0001819	synonymous_variant	58525					nucleus	zinc ion binding	g.chr19:15538235G>A	AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"""Zinc fingers, C2H2-type"""	30917	protein-coding gene	gene with protein product			"""WIZ zinc finger"""			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.3210C>T	19.37:g.15538235G>A						WIZ_ENST00000545156.1_Silent_p.G384G|WIZ_ENST00000599686.2_Silent_p.G254G|WIZ_ENST00000599910.1_Silent_p.G387G|WIZ_ENST00000263381.6_Silent_p.G213G	p.G1070G			O95785	WIZ_HUMAN			6	3423	-			1070					B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Silent	SNP	ENST00000389282.4	37	c.3210C>T																																																																																					0.637	WIZ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021241		13	45	0	0	0	1	0	13	45				
MCC	4163	broad.mit.edu	37	5	112363035	112363035	+	Silent	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr5:112363035C>T	ENST00000302475.4	-	17	3017	c.2454G>A	c.(2452-2454)gaG>gaA	p.E818E	MCC_ENST00000408903.3_Silent_p.E1008E|MCC_ENST00000515367.2_Silent_p.E755E|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	818					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GCCTGGAGTTCTCCTCCTCTA	0.512																																						ENST00000302475.4																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(2452-2454)gaG>gaA		mutated in colorectal cancers							249.0	217.0	228.0					5																	112363035		2202	4300	6502	SO:0001819	synonymous_variant	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112363035C>T		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.2454G>A	5.37:g.112363035C>T						MCC_ENST00000408903.3_Silent_p.E1008E|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Silent_p.E755E	p.E818E	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	17	3017	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	818					D3DT05|Q6ZR04	Silent	SNP	ENST00000302475.4	37	c.2454G>A	CCDS4111.1																																																																																				0.512	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		6	64	0	0	0	1	0	6	64				
HIST1H3E	8353	broad.mit.edu	37	6	26225550	26225550	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr6:26225550G>C	ENST00000360408.1	+	1	168	c.168G>C	c.(166-168)caG>caC	p.Q56H		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	56					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				GTCGCTACCAGAAGTCTACCG	0.632																																						ENST00000360408.1																			0				endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8						c.(166-168)caG>caC		histone cluster 1, H3e							56.0	55.0	55.0					6																	26225550		2203	4300	6503	SO:0001583	missense	8353				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26225550G>C	M60746	CCDS4596.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196966	ENSG00000274750		"""Histones / Replication-dependent"""	4769	protein-coding gene	gene with protein product		602813	"""H3 histone family, member D"", ""histone 1, H3e"""	H3FD		1916825, 12408966	Standard	NM_003532		Approved	H3/d, H3.1	uc003nhc.4	P68431	OTTHUMG00000014434	ENST00000360408.1:c.168G>C	6.37:g.26225550G>C	ENSP00000353581:p.Gln56His						p.Q56H	NM_003532.2	NP_003523.1	P68431	H31_HUMAN			1	168	+		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)	56					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000360408.1	37	c.168G>C	CCDS4596.1	.	.	.	.	.	.	.	.	.	.	.	13.14	2.148768	0.37923	.	.	ENSG00000196966	ENST00000360408	T	0.51325	0.71	4.54	4.54	0.55810	.	.	.	.	.	T	0.59004	0.2162	.	.	.	0.45662	D	0.998589	.	.	.	.	.	.	T	0.64563	-0.6378	6	0.87932	D	0	.	16.8198	0.85743	0.0:0.0:1.0:0.0	.	.	.	.	H	56	ENSP00000353581:Q56H	ENSP00000353581:Q56H	Q	+	3	2	HIST1H3E	26333529	1.000000	0.71417	1.000000	0.80357	0.064000	0.16182	9.353000	0.97080	2.541000	0.85698	0.491000	0.48974	CAG		0.632	HIST1H3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040097.1	NM_003532		24	87	0	0	0	1	0	24	87				
PRRC2A	7916	broad.mit.edu	37	6	31600766	31600766	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr6:31600766G>C	ENST00000376033.2	+	16	4550	c.4316G>C	c.(4315-4317)cGa>cCa	p.R1439P	PRRC2A_ENST00000376007.4_Missense_Mutation_p.R1439P	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1439	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCCAAGAACCGAAGGTGGGTA	0.562																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(4315-4317)cGa>cCa		proline-rich coiled-coil 2A							11.0	12.0	11.0					6																	31600766		1503	2700	4203	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31600766G>C	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.4316G>C	6.37:g.31600766G>C	ENSP00000365201:p.Arg1439Pro					PRRC2A_ENST00000376007.4_Missense_Mutation_p.R1439P	p.R1439P	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			16	4550	+			1439			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.4316G>C	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.234875	0.22626	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.03635	3.86;3.86	4.83	4.83	0.62350	.	0.000000	0.42294	D	0.000735	T	0.04227	0.0117	N	0.19112	0.55	0.42662	D	0.993488	D	0.76494	0.999	D	0.70227	0.968	T	0.43877	-0.9364	10	0.87932	D	0	-8.5365	10.4504	0.44518	0.09:0.0:0.91:0.0	.	1439	P48634	PRC2A_HUMAN	P	1433;1422;1439;1439;664	ENSP00000365175:R1439P;ENSP00000365201:R1439P	ENSP00000365175:R1439P	R	+	2	0	PRRC2A	31708745	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.662000	0.54510	2.517000	0.84864	0.561000	0.74099	CGA		0.562	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		4	19	0	0	0	1	0	4	19				
CXorf67	340602	broad.mit.edu	37	X	51150789	51150789	+	Silent	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chrX:51150789G>A	ENST00000342995.2	+	1	1023	c.921G>A	c.(919-921)gcG>gcA	p.A307A				Q86X51	CX067_HUMAN	chromosome X open reading frame 67	307										breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						GCGATTCTGCGCCAGGCTCTG	0.736																																						ENST00000342995.2																			0				breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						c.(919-921)gcG>gcA		chromosome X open reading frame 67							7.0	7.0	7.0					X																	51150789		2076	3980	6056	SO:0001819	synonymous_variant	340602							g.chrX:51150789G>A	BC046248		Xp11.22	2014-04-30			ENSG00000187690	ENSG00000187690			33738	protein-coding gene	gene with protein product						23959973	Standard	XR_113306		Approved			Q86X51	OTTHUMG00000187481	ENST00000342995.2:c.921G>A	X.37:g.51150789G>A							p.A307A							1	1023	+									Silent	SNP	ENST00000342995.2	37	c.921G>A																																																																																					0.736	CXorf67-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_203407		15	17	0	0	0	1	0	15	17				
RCC1	1104	broad.mit.edu	37	1	28861634	28861634	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr1:28861634G>A	ENST00000373833.6	+	8	799	c.514G>A	c.(514-516)Gtg>Atg	p.V172M	RCC1_ENST00000373832.1_Missense_Mutation_p.V172M|RCC1_ENST00000373831.3_Missense_Mutation_p.V203M|RCC1_ENST00000429051.1_3'UTR|RCC1_ENST00000398958.2_Missense_Mutation_p.V172M			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	172					chromosome segregation (GO:0007059)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of Ran GTPase activity (GO:0032853)|regulation of mitosis (GO:0007088)|spindle assembly (GO:0051225)|viral process (GO:0016032)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosomal DNA binding (GO:0031492)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGCTGGATGTGCCTGTGGT	0.577																																						ENST00000373833.6																			0				breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14						c.(514-516)Gtg>Atg		regulator of chromosome condensation 1							163.0	146.0	152.0					1																	28861634		2203	4300	6503	SO:0001583	missense	1104				cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity	g.chr1:28861634G>A	X12654	CCDS323.1, CCDS41295.1	1p35.3	2008-08-18	2005-05-09	2005-05-09	ENSG00000180198	ENSG00000180198			1913	protein-coding gene	gene with protein product		179710	"""chromosome condensation 1"""	CHC1		7851910	Standard	NM_001048199		Approved		uc001bqf.2	P18754	OTTHUMG00000003645	ENST00000373833.6:c.514G>A	1.37:g.28861634G>A	ENSP00000362939:p.Val172Met					RCC1_ENST00000429051.1_3'UTR|RCC1_ENST00000373831.3_Missense_Mutation_p.V203M|RCC1_ENST00000373832.1_Missense_Mutation_p.V172M|RCC1_ENST00000398958.2_Missense_Mutation_p.V172M	p.V172M			P18754	RCC1_HUMAN		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)	8	799	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)	172					Q16269|Q6NT97	Missense_Mutation	SNP	ENST00000373833.6	37	c.514G>A	CCDS323.1	.	.	.	.	.	.	.	.	.	.	G	6.910	0.537426	0.13188	.	.	ENSG00000180198	ENST00000398958;ENST00000427469;ENST00000434290;ENST00000373833;ENST00000419074;ENST00000373832;ENST00000373831;ENST00000411533;ENST00000430407	D;D;T;D;D;D;D;D;D	0.84730	-1.89;-1.89;-1.41;-1.89;-1.89;-1.89;-1.89;-1.89;-1.89	5.78	-1.48	0.08745	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.982548	0.08369	N	0.956378	T	0.74336	0.3703	N	0.17345	0.48	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.09377	0.002;0.004;0.003	T	0.57353	-0.7826	10	0.44086	T	0.13	3.7795	13.0593	0.58997	0.2822:0.0:0.7178:0.0	.	203;189;172	P18754-2;E9PAT9;P18754	.;.;RCC1_HUMAN	M	172;172;208;172;172;172;203;189;172	ENSP00000381931:V172M;ENSP00000402740:V172M;ENSP00000405258:V208M;ENSP00000362939:V172M;ENSP00000402260:V172M;ENSP00000362938:V172M;ENSP00000362937:V203M;ENSP00000413644:V189M;ENSP00000394650:V172M	ENSP00000362937:V203M	V	+	1	0	RCC1	28734221	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	-0.077000	0.11394	-0.452000	0.07087	0.655000	0.94253	GTG		0.577	RCC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010323.3	NM_001269		38	93	0	0	0	1	0	38	93				
CCDC15	80071	broad.mit.edu	37	11	124857973	124857973	+	Silent	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr11:124857973C>T	ENST00000344762.5	+	8	2110	c.1851C>T	c.(1849-1851)tcC>tcT	p.S617S	CCDC15_ENST00000529051.1_Silent_p.S617S	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	617						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		ATGTTCTCTCCAACGACCAGA	0.388																																						ENST00000529051.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23						c.(1849-1851)tcC>tcT		coiled-coil domain containing 15							99.0	93.0	95.0					11																	124857973		1814	4077	5891	SO:0001819	synonymous_variant	80071					centrosome		g.chr11:124857973C>T	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.1851C>T	11.37:g.124857973C>T						CCDC15_ENST00000344762.5_Silent_p.S617S	p.S617S			Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	8	2110	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	617					Q9H8U7	Silent	SNP	ENST00000344762.5	37	c.1851C>T	CCDS44756.1																																																																																				0.388	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		15	105	0	0	0	1	0	15	105				
VAT1	10493	broad.mit.edu	37	17	41170802	41170802	+	Silent	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr17:41170802C>T	ENST00000355653.3	-	2	497	c.402G>A	c.(400-402)gtG>gtA	p.V134V	VAT1_ENST00000420567.3_5'UTR|VAT1_ENST00000587173.1_Silent_p.V66V	NM_006373.3	NP_006364.2	P54219	VMAT1_HUMAN	vesicle amine transport 1	0					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	TCAACACCATCACCCGGTCTC	0.522																																						ENST00000355653.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						c.(400-402)gtG>gtA		vesicle amine transport 1							94.0	77.0	83.0					17																	41170802		2203	4300	6503	SO:0001819	synonymous_variant	10493					cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding	g.chr17:41170802C>T	U18009	CCDS11451.1	17q21	2013-08-23	2013-08-23			ENSG00000108828			16919	protein-coding gene	gene with protein product		604631	"""vesicle amine transport protein 1 homolog (T. californica)"""			7774926, 8938427	Standard	NM_006373		Approved	VATI, FLJ20230	uc002icm.1	Q99536		ENST00000355653.3:c.402G>A	17.37:g.41170802C>T						VAT1_ENST00000587173.1_Silent_p.V66V|VAT1_ENST00000420567.3_5'UTR	p.V134V	NM_006373.3	NP_006364.2	Q99536	VAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	2	497	-		Breast(137;0.000717)	134					E9PDJ5|Q9BRE4	Silent	SNP	ENST00000355653.3	37	c.402G>A	CCDS11451.1																																																																																				0.522	VAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453101.1	NM_006373		9	72	0	0	0	1	0	9	72				
HECTD4	283450	broad.mit.edu	37	12	112648043	112648043	+	Missense_Mutation	SNP	C	C	T	rs371361328		TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr12:112648043C>T	ENST00000430131.2	-	49	7522	c.6377G>A	c.(6376-6378)cGa>cAa	p.R2126Q	HECTD4_ENST00000377560.5_Missense_Mutation_p.R2376Q|HECTD4_ENST00000550722.1_Missense_Mutation_p.R2402Q			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2126					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										AAAGTTAGCTCGGGTTTTGGT	0.517																																						ENST00000550722.1																			0											c.(7204-7206)cGa>cAa		HECT domain containing E3 ubiquitin protein ligase 4		C	GLN/ARG	1,3797		0,1,1898	100.0	102.0	101.0		7127	4.9	1.0	12		101	0,8222		0,0,4111	no	missense	C12orf51	NM_001109662.2	43	0,1,6009	TT,TC,CC		0.0,0.0263,0.0083	possibly-damaging	2376/4247	112648043	1,12019	1899	4111	6010	SO:0001583	missense	283450							g.chr12:112648043C>T	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.6377G>A	12.37:g.112648043C>T	ENSP00000404379:p.Arg2126Gln					HECTD4_ENST00000430131.2_Missense_Mutation_p.R2126Q|HECTD4_ENST00000377560.5_Missense_Mutation_p.R2376Q	p.R2402Q	NM_001109662.3	NP_001103132.3					50	7600	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.7205G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.8|24.8	4.568967|4.568967	0.86439|0.86439	2.63E-4|2.63E-4	0.0|0.0	ENSG00000173064|ENSG00000173064	ENST00000550968|ENST00000377560;ENST00000430131;ENST00000550722	.|T;T;T	.|0.53640	.|0.62;0.62;0.61	5.74|5.74	4.86|4.86	0.63082|0.63082	.|.	.|.	.|.	.|.	.|.	T|T	0.27489|0.27489	0.0675|0.0675	N|N	0.14661|0.14661	0.345|0.345	0.49687|0.49687	D|D	0.99981|0.99981	.|P	.|0.43352	.|0.804	.|B	.|0.28305	.|0.088	T|T	0.21177|0.21177	-1.0253|-1.0253	5|9	.|0.87932	.|D	.|0	.|.	14.6987|14.6987	0.69142|0.69142	0.0:0.9306:0.0:0.0694|0.0:0.9306:0.0:0.0694	.|.	.|2126	.|Q9Y4D8	.|K0614_HUMAN	K|Q	293|2376;2126;2402	.|ENSP00000366783:R2376Q;ENSP00000404379:R2126Q;ENSP00000449784:R2402Q	.|ENSP00000366783:R2376Q	E|R	-|-	1|2	0|0	C12orf51|C12orf51	111132426|111132426	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.997000|0.997000	0.91878|0.91878	5.572000|5.572000	0.67411|0.67411	1.429000|1.429000	0.47314|0.47314	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.517	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		30	106	0	0	0	1	0	30	106				
NEK8	284086	broad.mit.edu	37	17	27068099	27068099	+	Missense_Mutation	SNP	C	C	T	rs149987249	byFrequency	TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr17:27068099C>T	ENST00000268766.6	+	13	1770	c.1736C>T	c.(1735-1737)tCg>tTg	p.S579L	AC010761.6_ENST00000582536.1_RNA|AC010761.6_ENST00000584779.1_RNA|TRAF4_ENST00000262395.5_5'Flank|TRAF4_ENST00000444415.3_5'Flank	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	579					organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CCCATAGCCTCGGGTGATTGC	0.597													C|||	2	0.000399361	0.0	0.0	5008	,	,		20384	0.0		0.001	False		,,,				2504	0.001				NSCLC(6;19 293 14866 25253 49845)	ENST00000268766.6																			0				breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1735-1737)tCg>tTg		NIMA-related kinase 8		C	LEU/SER	0,4406		0,0,2203	88.0	85.0	86.0		1736	3.5	0.1	17	dbSNP_134	86	2,8598	2.2+/-6.3	0,2,4298	yes	missense	NEK8	NM_178170.2	145	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	579/693	27068099	2,13004	2203	4300	6503	SO:0001583	missense	284086					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:27068099C>T	AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.1736C>T	17.37:g.27068099C>T	ENSP00000268766:p.Ser579Leu					AC010761.6_ENST00000584779.1_RNA	p.S579L	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN			13	1770	+	Lung NSC(42;0.0158)		579					A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Missense_Mutation	SNP	ENST00000268766.6	37	c.1736C>T	CCDS32597.1	.	.	.	.	.	.	.	.	.	.	C	4.604	0.112162	0.08831	0.0	2.33E-4	ENSG00000160602	ENST00000268766	D	0.85629	-2.01	5.52	3.55	0.40652	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.502419	0.22454	N	0.059858	D	0.82486	0.5047	M	0.76838	2.35	0.28826	N	0.897386	B	0.06786	0.001	B	0.04013	0.001	T	0.71258	-0.4646	10	0.25751	T	0.34	.	8.763	0.34687	0.0:0.7712:0.0:0.2288	.	579	Q86SG6	NEK8_HUMAN	L	579	ENSP00000268766:S579L	ENSP00000268766:S579L	S	+	2	0	NEK8	24092226	0.376000	0.25098	0.093000	0.20910	0.076000	0.17211	1.301000	0.33447	0.706000	0.31912	-0.137000	0.14449	TCG		0.597	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2			4	138	0	0	0	1	0	4	138				
PKP2	5318	broad.mit.edu	37	12	33031091	33031091	+	Silent	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr12:33031091G>A	ENST00000070846.6	-	3	747	c.723C>T	c.(721-723)ctC>ctT	p.L241L	PKP2_ENST00000340811.4_Silent_p.L241L	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	241					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGGGGTACGTGAGCAGGGCCG	0.617																																						ENST00000340811.4																			0				NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50						c.(721-723)ctC>ctT		plakophilin 2							71.0	63.0	66.0					12																	33031091		2203	4298	6501	SO:0001819	synonymous_variant	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:33031091G>A	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.723C>T	12.37:g.33031091G>A						PKP2_ENST00000070846.6_Silent_p.L241L	p.L241L	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN			3	831	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		241					A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Silent	SNP	ENST00000070846.6	37	c.723C>T	CCDS8731.1																																																																																				0.617	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		11	59	0	0	0	1	0	11	59				
RALGPS1	9649	broad.mit.edu	37	9	129958828	129958828	+	Silent	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr9:129958828C>T	ENST00000259351.5	+	13	1380	c.1113C>T	c.(1111-1113)gaC>gaT	p.D371D	RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	371					intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						ACCTACTGGACGACAGTGTCC	0.537																																						ENST00000259351.5																			0				kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(1111-1113)gaC>gaT		Ral GEF with PH domain and SH3 binding motif 1							175.0	158.0	164.0					9																	129958828		2203	4300	6503	SO:0001819	synonymous_variant	9649				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr9:129958828C>T	AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"""Pleckstrin homology (PH) domain containing"""	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.1113C>T	9.37:g.129958828C>T						RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373434.1_Intron	p.D371D	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN			13	1380	+			371					B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Silent	SNP	ENST00000259351.5	37	c.1113C>T	CCDS35143.1																																																																																				0.537	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1	NM_014636		4	107	0	0	0	1	0	4	107				
PTK2	5747	broad.mit.edu	37	8	141754816	141754816	+	Silent	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr8:141754816C>T	ENST00000522684.1	-	19	1798	c.1569G>A	c.(1567-1569)ttG>ttA	p.L523L	PTK2_ENST00000519465.1_Silent_p.L151L|PTK2_ENST00000519419.1_Silent_p.L567L|PTK2_ENST00000520151.1_Missense_Mutation_p.D118N|PTK2_ENST00000521059.1_Silent_p.L523L|PTK2_ENST00000535192.1_Silent_p.L523L|PTK2_ENST00000538769.1_Silent_p.L191L|PTK2_ENST00000340930.3_Silent_p.L523L|PTK2_ENST00000517887.1_Silent_p.L567L|PTK2_ENST00000395218.2_Silent_p.L523L	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	523	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			CATACAGGATCAAAGATGCTA	0.353																																						ENST00000520151.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48						c.(352-354)Gat>Aat		protein tyrosine kinase 2							132.0	121.0	125.0					8																	141754816		2203	4300	6503	SO:0001819	synonymous_variant	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141754816C>T	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.1569G>A	8.37:g.141754816C>T						PTK2_ENST00000395218.2_Silent_p.L523L|PTK2_ENST00000535192.1_Silent_p.L523L|PTK2_ENST00000340930.3_Silent_p.L523L|PTK2_ENST00000522684.1_Silent_p.L523L|PTK2_ENST00000538769.1_Silent_p.L191L|PTK2_ENST00000519465.1_Silent_p.L151L|PTK2_ENST00000521059.1_Silent_p.L523L|PTK2_ENST00000517887.1_Silent_p.L567L|PTK2_ENST00000519419.1_Silent_p.L567L	p.D118N			Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		4	413	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	0			FERM.		B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	ENST00000522684.1	37	c.352G>A	CCDS6381.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.278038	0.59758	.	.	ENSG00000169398	ENST00000519654	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	T	0.64000	0.2559	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62062	-0.6933	4	.	.	.	.	12.0413	0.53454	0.1342:0.7363:0.1295:0.0	.	.	.	.	N	534	.	.	D	-	1	0	PTK2	141823998	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	1.636000	0.37144	2.524000	0.85096	0.591000	0.81541	GAT		0.353	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		4	53	0	0	0	1	0	4	53				
EGFR	1956	broad.mit.edu	37	7	55268930	55268930	+	Missense_Mutation	SNP	G	G	A	rs149248025		TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr7:55268930G>A	ENST00000275493.2	+	25	3173	c.2996G>A	c.(2995-2997)cGt>cAt	p.R999H	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.R946H|EGFR_ENST00000455089.1_Missense_Mutation_p.R954H	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	999					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AACTTCTACCGTGCCCTGATG	0.532		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(2995-2997)cGt>cAt		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	159.0	145.0	150.0		2996	5.7	1.0	7	dbSNP_134	150	1,8599	1.2+/-3.3	0,1,4299	no	missense	EGFR	NM_005228.3	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	999/1211	55268930	2,13004	2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55268930G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2996G>A	7.37:g.55268930G>A	ENSP00000275493:p.Arg999His	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000454757.2_Missense_Mutation_p.R946H|EGFR_ENST00000455089.1_Missense_Mutation_p.R954H|EGFR_ENST00000442591.1_Intron	p.R999H	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		25	3173	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		999					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2996G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.863645	0.91511	2.27E-4	1.16E-4	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.62498	0.02;0.02;0.02	5.65	5.65	0.86999	Protein kinase-like domain (1);	0.046617	0.85682	D	0.000000	T	0.70753	0.3260	M	0.75085	2.285	0.58432	D	0.999996	D;D	0.69078	0.997;0.991	B;P	0.51170	0.43;0.661	T	0.74768	-0.3553	10	0.72032	D	0.01	.	14.303	0.66364	0.0:0.1485:0.8514:0.0	.	954;999	Q504U8;P00533	.;EGFR_HUMAN	H	954;869;999;946	ENSP00000415559:R954H;ENSP00000275493:R999H;ENSP00000395243:R946H	ENSP00000275493:R999H	R	+	2	0	EGFR	55236424	1.000000	0.71417	0.966000	0.40874	0.979000	0.70002	6.531000	0.73820	2.827000	0.97445	0.650000	0.86243	CGT		0.532	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		4	195	0	0	0	1	0	4	195				
KIAA1109	84162	broad.mit.edu	37	4	123140583	123140583	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr4:123140583C>A	ENST00000264501.4	+	21	2709	c.2336C>A	c.(2335-2337)tCt>tAt	p.S779Y	KIAA1109_ENST00000388738.3_Missense_Mutation_p.S779Y|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.S779Y			Q2LD37	K1109_HUMAN	KIAA1109	779	Poly-Ser.				regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.S779C(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCATCCAGCTCTGGGTGGACT	0.393																																						ENST00000264501.4																			1	Substitution - Missense(1)	p.S779C(1)	lung(1)	breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(2335-2337)tCt>tAt		KIAA1109							194.0	182.0	186.0					4																	123140583		1877	4123	6000	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123140583C>A	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.2336C>A	4.37:g.123140583C>A	ENSP00000264501:p.Ser779Tyr					KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.S779Y|KIAA1109_ENST00000388738.3_Missense_Mutation_p.S779Y	p.S779Y			Q2LD37	K1109_HUMAN			21	2709	+			779			Poly-Ser.		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.2336C>A	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.700732	0.68501	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637	T;T;T	0.25579	2.39;2.39;1.79	5.74	5.74	0.90152	.	7739.210000	0.00166	N	0.000000	T	0.51415	0.1673	L	0.55990	1.75	0.41861	D	0.99022	D;P	0.59767	0.986;0.483	P;B	0.56127	0.792;0.113	T	0.37430	-0.9706	10	0.72032	D	0.01	.	19.9089	0.97019	0.0:1.0:0.0:0.0	.	779;779	Q2LD37-5;Q2LD37	.;K1109_HUMAN	Y	779	ENSP00000264501:S779Y;ENSP00000373390:S779Y;ENSP00000389925:S779Y	ENSP00000264501:S779Y	S	+	2	0	KIAA1109	123360033	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.878000	0.69682	2.709000	0.92574	0.591000	0.81541	TCT		0.393	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		41	127	1	0	3.38236e-24	1	3.56448e-24	41	127				
ZFP36L1	677	broad.mit.edu	37	14	69256258	69256258	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr14:69256258C>T	ENST00000439696.2	-	2	1310	c.1009G>A	c.(1009-1011)Gat>Aat	p.D337N	ZFP36L1_ENST00000336440.3_Missense_Mutation_p.D337N|ZFP36L1_ENST00000555997.1_3'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	337					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GCTTAGTCATCTGAGATGGAA	0.597											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000439696.2																			0				breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21						c.(1009-1011)Gat>Aat		ZFP36 ring finger protein-like 1							81.0	80.0	80.0					14																	69256258		2203	4300	6503	SO:0001583	missense	677				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:69256258C>T	X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"""RING-type (C3HC4) zinc fingers"""	1107	protein-coding gene	gene with protein product		601064	"""zinc finger protein, C3H type, 36-like 1"", ""zinc finger protein 36, C3H type-like 1"""	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.1009G>A	14.37:g.69256258C>T	ENSP00000388402:p.Asp337Asn		OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.D337N	p.D337N	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN		all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	1310	-			337					Q13851	Missense_Mutation	SNP	ENST00000439696.2	37	c.1009G>A	CCDS9791.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.935317	0.92458	.	.	ENSG00000185650	ENST00000439696;ENST00000336440;ENST00000435246	T;T	0.55234	0.53;0.53	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.69949	0.3168	M	0.67397	2.05	0.80722	D	1	D	0.76494	0.999	D	0.63957	0.92	T	0.73892	-0.3839	10	0.87932	D	0	-11.9685	18.2457	0.89985	0.0:1.0:0.0:0.0	.	337	Q07352	TISB_HUMAN	N	337;337;320	ENSP00000388402:D337N;ENSP00000337386:D337N	ENSP00000337386:D337N	D	-	1	0	ZFP36L1	68326011	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.511000	0.81718	2.527000	0.85204	0.591000	0.81541	GAT		0.597	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1			6	162	0	0	0	1	0	6	162				
ORC3	23595	broad.mit.edu	37	6	88315721	88315721	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr6:88315721C>T	ENST00000392844.3	+	5	457	c.409C>T	c.(409-411)Caa>Taa	p.Q137*	ORC3_ENST00000417380.2_Nonsense_Mutation_p.Q84*|ORC3_ENST00000257789.4_Nonsense_Mutation_p.Q137*|ORC3_ENST00000546266.1_5'UTR	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	137				Q -> R (in Ref. 4; CAB45715). {ECO:0000305}.	DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|neural precursor cell proliferation (GO:0061351)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA replication origin binding (GO:0003688)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						AGTCTCATTGCAAGCTAAAGA	0.358																																						ENST00000392844.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						c.(409-411)Caa>Taa		origin recognition complex, subunit 3							116.0	114.0	115.0					6																	88315721		2203	4300	6503	SO:0001587	stop_gained	23595				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	g.chr6:88315721C>T	AF093535	CCDS5012.1, CCDS43486.1, CCDS56440.1	6q	2010-10-12	2010-10-12	2010-10-12	ENSG00000135336	ENSG00000135336			8489	protein-coding gene	gene with protein product		604972	"""origin recognition complex, subunit 3 (yeast homolog)-like"", ""origin recognition complex, subunit 3-like (yeast)"", ""origin recognition complex, subunit 3 honolog (yeast)"""	ORC3L		9829972, 10402192	Standard	NM_181837		Approved	IMAGE50150, LATHEO	uc003pmg.3	Q9UBD5	OTTHUMG00000015179	ENST00000392844.3:c.409C>T	6.37:g.88315721C>T	ENSP00000376586:p.Gln137*					ORC3_ENST00000257789.4_Nonsense_Mutation_p.Q137*|ORC3_ENST00000417380.2_Nonsense_Mutation_p.Q84*|ORC3_ENST00000546266.1_5'UTR	p.Q137*	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN			5	457	+			137	Q -> R (in Ref. 4; CAB45715).				A2A2T5|B4E025|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6	Nonsense_Mutation	SNP	ENST00000392844.3	37	c.409C>T	CCDS43486.1	.	.	.	.	.	.	.	.	.	.	C	35	5.436810	0.96168	.	.	ENSG00000135336	ENST00000392844;ENST00000257789;ENST00000417380	.	.	.	5.44	4.55	0.56014	.	0.159399	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-12.7506	10.3637	0.44010	0.2495:0.6146:0.1359:0.0	.	.	.	.	X	137;137;84	.	ENSP00000257789:Q137X	Q	+	1	0	ORC3	88372440	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.311000	0.51919	1.378000	0.46305	0.591000	0.81541	CAA		0.358	ORC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041452.2			27	61	0	0	0	1	0	27	61				
ADCY1	107	broad.mit.edu	37	7	45688285	45688285	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr7:45688285G>A	ENST00000297323.7	+	5	1059	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H	ADCY1_ENST00000432715.1_Missense_Mutation_p.R121H	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	346					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CACTGTCGCCGCATCAAGATT	0.587																																						ENST00000297323.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(1036-1038)cGc>cAc		adenylate cyclase 1 (brain)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)						103.0	87.0	92.0					7																	45688285		2203	4300	6503	SO:0001583	missense	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45688285G>A	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1037G>A	7.37:g.45688285G>A	ENSP00000297323:p.Arg346His					ADCY1_ENST00000432715.1_Missense_Mutation_p.R121H	p.R346H	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN			5	1059	+			346					A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.1037G>A	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.673952	0.88445	.	.	ENSG00000164742	ENST00000432715;ENST00000297323;ENST00000545300	D;D	0.81579	-1.51;-1.51	3.91	3.91	0.45181	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.92074	0.7488	H	0.95574	3.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.94103	0.7364	10	0.87932	D	0	.	13.4729	0.61290	0.0:0.0:1.0:0.0	.	346;121	Q08828;C9J1J0	ADCY1_HUMAN;.	H	121;346;346	ENSP00000392721:R121H;ENSP00000297323:R346H	ENSP00000297323:R346H	R	+	2	0	ADCY1	45654810	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	8.906000	0.92626	2.028000	0.59812	0.561000	0.74099	CGC		0.587	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		4	83	0	0	0	1	0	4	83				
KMT2E	55904	broad.mit.edu	37	7	104753433	104753433	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr7:104753433C>T	ENST00000311117.3	+	27	5775	c.5230C>T	c.(5230-5232)Cat>Tat	p.H1744Y	KMT2E_ENST00000257745.4_Missense_Mutation_p.H1744Y|KMT2E_ENST00000334877.4_Missense_Mutation_p.H1702Y|SRPK2_ENST00000493638.1_Intron	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1744	Pro-rich. {ECO:0000255}.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										CCACCCACCTCATCAAGGACC	0.547																																						ENST00000334877.4																			0											c.(5104-5106)Cat>Tat		lysine (K)-specific methyltransferase 2E							276.0	215.0	236.0					7																	104753433		2203	4300	6503	SO:0001583	missense	55904							g.chr7:104753433C>T	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.5230C>T	7.37:g.104753433C>T	ENSP00000312379:p.His1744Tyr					KMT2E_ENST00000257745.4_Missense_Mutation_p.H1744Y|KMT2E_ENST00000311117.3_Missense_Mutation_p.H1744Y|SRPK2_ENST00000493638.1_Intron	p.H1702Y							26	5638	+								B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	c.5104C>T	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	c	9.089	1.001280	0.19121	.	.	ENSG00000005483	ENST00000311117;ENST00000334877;ENST00000351043;ENST00000257745	D;D;D	0.94184	-3.36;-3.37;-3.36	3.94	3.94	0.45596	.	0.000000	0.45126	D	0.000381	D	0.93446	0.7909	N	0.19112	0.55	0.80722	D	1	D;D	0.67145	0.996;0.981	D;D	0.75484	0.986;0.954	D	0.94698	0.7880	10	0.62326	D	0.03	.	16.3877	0.83522	0.0:1.0:0.0:0.0	.	1664;1744	F8W6H1;Q8IZD2	.;MLL5_HUMAN	Y	1744;1702;1664;1744	ENSP00000312379:H1744Y;ENSP00000335599:H1702Y;ENSP00000257745:H1744Y	ENSP00000257745:H1744Y	H	+	1	0	MLL5	104540669	0.998000	0.40836	1.000000	0.80357	0.936000	0.57629	3.149000	0.50655	1.934000	0.56057	0.454000	0.30748	CAT		0.547	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			17	94	0	0	0	1	0	17	94				
MYO18B	84700	broad.mit.edu	37	22	26165205	26165205	+	Missense_Mutation	SNP	G	G	A	rs200457838		TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr22:26165205G>A	ENST00000407587.2	+	4	1491	c.1322G>A	c.(1321-1323)cGt>cAt	p.R441H	MYO18B_ENST00000335473.7_Missense_Mutation_p.R441H|MYO18B_ENST00000536101.1_Missense_Mutation_p.R441H			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	441						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCAGGAAGCCGTGGGCAGGAA	0.632													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18193	0.0		0.0	False		,,,				2504	0.0					ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(1321-1323)cGt>cAt		myosin XVIIIB		G	HIS/ARG	0,4218		0,0,2109	17.0	21.0	20.0		1322	-3.7	0.0	22		20	2,8448		0,2,4223	yes	missense	MYO18B	NM_032608.5	29	0,2,6332	AA,AG,GG		0.0237,0.0,0.0158	possibly-damaging	441/2568	26165205	2,12666	2109	4225	6334	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26165205G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.1322G>A	22.37:g.26165205G>A	ENSP00000386096:p.Arg441His					MYO18B_ENST00000407587.2_Missense_Mutation_p.R441H|MYO18B_ENST00000536101.1_Missense_Mutation_p.R441H	p.R441H	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			4	1572	+			441					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.1322G>A		.	.	.	.	.	.	.	.	.	.	G	13.09	2.132918	0.37630	0.0	2.37E-4	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.88896	-2.42;-2.42;-2.44	4.73	-3.69	0.04450	.	2.593500	0.01692	N	0.026710	D	0.84288	0.5439	L	0.47716	1.5	0.09310	N	1	B;B;B	0.33748	0.298;0.423;0.423	B;B;B	0.34536	0.09;0.123;0.185	T	0.72984	-0.4125	10	0.56958	D	0.05	.	5.9078	0.19010	0.2856:0.3824:0.3319:0.0	.	441;441;441	Q8IUG5;F5GXR6;F5GYU7	MY18B_HUMAN;.;.	H	441	ENSP00000441229:R441H;ENSP00000334563:R441H;ENSP00000386096:R441H	ENSP00000334563:R441H	R	+	2	0	MYO18B	24495205	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.033000	0.12246	-0.350000	0.08262	-0.479000	0.04858	CGT		0.632	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		9	20	0	0	0	1	0	9	20				
WAPAL	23063	broad.mit.edu	37	10	88211793	88211793	+	Silent	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr10:88211793G>A	ENST00000298767.5	-	15	3517	c.3045C>T	c.(3043-3045)atC>atT	p.I1015I	WAPAL_ENST00000263070.7_Intron|WAPAL_ENST00000372075.1_Intron	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	1015	WAPL. {ECO:0000255|PROSITE- ProRule:PRU00603}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						CTCCACTACAGATGGAAGAAT	0.428																																						ENST00000298767.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						c.(3043-3045)atC>atT		wings apart-like homolog (Drosophila)							171.0	144.0	153.0					10																	88211793		2203	4300	6503	SO:0001819	synonymous_variant	23063				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding	g.chr10:88211793G>A	AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.3045C>T	10.37:g.88211793G>A						WAPAL_ENST00000372075.1_Intron|WAPAL_ENST00000263070.7_Intron	p.I1015I	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN			15	3517	-			1015			WAPL.		A7E2B5|Q5VSK5|Q8IX10|Q92549	Silent	SNP	ENST00000298767.5	37	c.3045C>T	CCDS7375.1																																																																																				0.428	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045		8	71	0	0	0	1	0	8	71				
DST	667	broad.mit.edu	37	6	56481654	56481654	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr6:56481654A>G	ENST00000370765.6	-	24	6718	c.6611T>C	c.(6610-6612)tTc>tCc	p.F2204S	DST_ENST00000370769.4_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1620					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCTAATTCTGAATTCGGGGTC	0.398																																						ENST00000370765.6																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(6610-6612)tTc>tCc		dystonin							59.0	63.0	61.0					6																	56481654		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56481654A>G	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.6611T>C	6.37:g.56481654A>G	ENSP00000359801:p.Phe2204Ser					DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370788.2_Intron	p.F2204S	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		24	6718	-	Lung NSC(77;0.103)		1562					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000370765.6	37	c.6611T>C	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	A	13.97	2.394552	0.42512	.	.	ENSG00000151914	ENST00000370765	T	0.72942	-0.7	5.77	5.77	0.91146	.	.	.	.	.	T	0.50667	0.1629	.	.	.	0.09310	N	0.999991	P	0.51933	0.949	P	0.48454	0.578	T	0.51764	-0.8664	7	0.11485	T	0.65	.	12.0512	0.53507	0.871:0.0:0.0:0.129	.	2204	Q03001-3	.	S	2204	ENSP00000359801:F2204S	ENSP00000359801:F2204S	F	-	2	0	DST	56589613	1.000000	0.71417	0.995000	0.50966	0.870000	0.49936	7.347000	0.79356	2.330000	0.79161	0.528000	0.53228	TTC		0.398	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		27	67	0	0	0	1	0	27	67				
LAMA4	3910	broad.mit.edu	37	6	112463442	112463442	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr6:112463442C>G	ENST00000230538.7	-	20	2943	c.2546G>C	c.(2545-2547)aGa>aCa	p.R849T	LAMA4_ENST00000424408.2_Missense_Mutation_p.R842T|LAMA4_ENST00000389463.4_Missense_Mutation_p.R842T|LAMA4_ENST00000522006.1_Missense_Mutation_p.R842T	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	849	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CATACTGGTTCTCGAGTGCAC	0.493																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(2545-2547)aGa>aCa		laminin, alpha 4							139.0	125.0	130.0					6																	112463442		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112463442C>G		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.2546G>C	6.37:g.112463442C>G	ENSP00000230538:p.Arg849Thr					LAMA4_ENST00000424408.2_Missense_Mutation_p.R842T|LAMA4_ENST00000389463.4_Missense_Mutation_p.R842T|LAMA4_ENST00000522006.1_Missense_Mutation_p.R842T	p.R849T	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	20	2943	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	849			Laminin G-like 1.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.2546G>C	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.409241	0.25378	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	6.07	3.57	0.40892	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin II (1);	0.351068	0.36444	N	0.002592	T	0.09113	0.0225	N	0.08118	0	0.80722	D	1	B;B	0.20887	0.049;0.039	B;B	0.21151	0.033;0.019	T	0.07966	-1.0745	10	0.46703	T	0.11	.	6.1907	0.20522	0.0:0.1559:0.1318:0.7122	.	849;842	Q16363;Q16363-2	LAMA4_HUMAN;.	T	849;842;842;842	ENSP00000230538:R849T;ENSP00000429488:R842T;ENSP00000374114:R842T;ENSP00000416470:R842T	ENSP00000230538:R849T	R	-	2	0	LAMA4	112570135	1.000000	0.71417	0.849000	0.33467	0.295000	0.27426	1.580000	0.36547	0.469000	0.27268	-0.355000	0.07637	AGA		0.493	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		11	146	0	0	0	1	0	11	146				
PMEPA1	56937	broad.mit.edu	37	20	56227195	56227195	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr20:56227195G>A	ENST00000341744.3	-	4	1097	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W	PMEPA1_ENST00000265626.4_Missense_Mutation_p.R210W|PMEPA1_ENST00000395814.1_Missense_Mutation_p.R210W|PMEPA1_ENST00000395816.3_Missense_Mutation_p.R210W|PMEPA1_ENST00000347215.4_Missense_Mutation_p.R225W	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	260					androgen receptor signaling pathway (GO:0030521)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	R-SMAD binding (GO:0070412)|WW domain binding (GO:0050699)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						TGGTGGAGCCGGGTCCCCTCC	0.662																																						ENST00000341744.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						c.(778-780)Cgg>Tgg		prostate transmembrane protein, androgen induced 1							19.0	21.0	20.0					20																	56227195		2197	4294	6491	SO:0001583	missense	56937				androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding	g.chr20:56227195G>A	AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225			14107	protein-coding gene	gene with protein product	"""solid tumor-associated 1"""	606564	"""transmembrane, prostate androgen induced RNA"""	TMEPAI		10873380	Standard	NM_020182		Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.778C>T	20.37:g.56227195G>A	ENSP00000345826:p.Arg260Trp					PMEPA1_ENST00000395816.3_Missense_Mutation_p.R210W|PMEPA1_ENST00000395814.1_Missense_Mutation_p.R210W|PMEPA1_ENST00000265626.4_Missense_Mutation_p.R210W|PMEPA1_ENST00000347215.4_Missense_Mutation_p.R225W	p.R260W	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN			4	1097	-			260					Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Missense_Mutation	SNP	ENST00000341744.3	37	c.778C>T	CCDS13463.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.677103	0.47886	.	.	ENSG00000124225	ENST00000341744;ENST00000347215;ENST00000395816;ENST00000265626;ENST00000395814	T;T;T;T;T	0.52754	0.65;0.68;0.69;0.69;0.69	4.77	2.55	0.30701	.	0.240603	0.34531	N	0.003899	T	0.65186	0.2667	M	0.74881	2.28	0.46678	D	0.999151	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.68300	-0.5445	10	0.87932	D	0	-33.019	10.9711	0.47441	0.0:0.0:0.3488:0.6512	.	225;260	Q5JY37;Q969W9	.;PMEPA_HUMAN	W	260;225;210;210;210	ENSP00000345826:R260W;ENSP00000344014:R225W;ENSP00000379161:R210W;ENSP00000265626:R210W;ENSP00000379159:R210W	ENSP00000265626:R210W	R	-	1	2	PMEPA1	55660601	1.000000	0.71417	0.692000	0.30179	0.383000	0.30230	3.851000	0.55926	0.939000	0.37446	0.650000	0.86243	CGG		0.662	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079858.2	NM_020182		3	13	0	0	0	1	0	3	13				
CCNT1	904	broad.mit.edu	37	12	49087931	49087931	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr12:49087931C>G	ENST00000261900.3	-	9	1288	c.1066G>C	c.(1066-1068)Gca>Cca	p.A356P		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	356					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						CCTGTAAGTGCTAAATTCTCA	0.453																																						ENST00000261900.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						c.(1066-1068)Gca>Cca		cyclin T1							157.0	151.0	153.0					12																	49087931		2203	4300	6503	SO:0001583	missense	904				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding	g.chr12:49087931C>G	AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"""human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"""	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.1066G>C	12.37:g.49087931C>G	ENSP00000261900:p.Ala356Pro						p.A356P	NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN			9	1288	-			356					A9XU13|E7EX76|O60581	Missense_Mutation	SNP	ENST00000261900.3	37	c.1066G>C	CCDS8766.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.514993	0.44763	.	.	ENSG00000129315	ENST00000261900	T	0.51325	0.71	5.49	4.58	0.56647	.	0.250386	0.36167	N	0.002746	T	0.36580	0.0972	N	0.22421	0.69	0.38176	D	0.939486	D	0.57257	0.979	P	0.47470	0.548	T	0.28902	-1.0029	10	0.38643	T	0.18	-7.3565	8.0747	0.30710	0.1599:0.7592:0.0:0.0809	.	356	O60563	CCNT1_HUMAN	P	356	ENSP00000261900:A356P	ENSP00000261900:A356P	A	-	1	0	CCNT1	47374198	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.335000	0.52105	1.281000	0.44480	0.491000	0.48974	GCA		0.453	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240		36	104	0	0	0	1	0	36	104				
ICE1	23379	broad.mit.edu	37	5	5457735	5457735	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr5:5457735G>A	ENST00000296564.7	+	12	1204	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		328					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TTTTTTTGATGAAGATCTTCA	0.438																																						ENST00000296564.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(982-984)Gaa>Aaa		KIAA0947							153.0	150.0	151.0					5																	5457735		1930	4129	6059	SO:0001583	missense	23379							g.chr5:5457735G>A																												ENST00000296564.7:c.982G>A	5.37:g.5457735G>A	ENSP00000296564:p.Glu328Lys						p.E328K	NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN			12	1204	+			328					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	c.982G>A	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.392975	0.42410	.	.	ENSG00000164151	ENST00000296564	T	0.10005	2.92	5.7	2.94	0.34122	.	0.891435	0.09642	N	0.774837	T	0.06962	0.0177	N	0.14661	0.345	0.09310	N	0.99999	B	0.31931	0.347	B	0.31751	0.135	T	0.41161	-0.9524	10	0.32370	T	0.25	-10.1898	8.025	0.30431	0.2591:0.0:0.7409:0.0	.	328	Q9Y2F5	K0947_HUMAN	K	328	ENSP00000296564:E328K	ENSP00000296564:E328K	E	+	1	0	KIAA0947	5510735	0.963000	0.33076	0.502000	0.27614	0.602000	0.36980	1.437000	0.34991	0.767000	0.33267	0.555000	0.69702	GAA		0.438	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			29	139	0	0	0	1	0	29	139				
PRSS3P2	154754	broad.mit.edu	37	7	142482242	142482242	+	RNA	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr7:142482242G>A	ENST00000603901.1	+	0	622					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										GGTCTGCAATGGACAGCTTCA	0.493																																						ENST00000603901.1																			0																																																			154754							g.chr7:142482242G>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482242G>A								NR_001296.3						0	622	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.493	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		4	40	0	0	0	1	0	4	40				
TTC30A	92104	broad.mit.edu	37	2	178482598	178482598	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr2:178482598G>A	ENST00000355689.5	-	1	1096	c.832C>T	c.(832-834)Cca>Tca	p.P278S	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	278					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			GCCCTGGGTGGCATGTCGGTG	0.507																																						ENST00000355689.4																			0				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(832-834)Cca>Tca		tetratricopeptide repeat domain 30A							128.0	137.0	134.0					2																	178482598		2203	4300	6503	SO:0001583	missense	92104				cell projection organization	cilium	binding	g.chr2:178482598G>A	AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"""Tetratricopeptide (TTC) repeat domain containing"""	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.832C>T	2.37:g.178482598G>A	ENSP00000347915:p.Pro278Ser					AC073834.3_ENST00000357045.4_RNA	p.P278S	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)		1	1096	-			278					A8K8N0|Q8IVP2	Missense_Mutation	SNP	ENST00000355689.5	37	c.832C>T	CCDS2276.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810278	0.50421	.	.	ENSG00000197557	ENST00000355689	T	0.33216	1.42	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.65091	0.2658	M	0.93197	3.39	0.80722	D	1	D	0.65815	0.995	P	0.59761	0.863	T	0.74194	-0.3744	10	0.72032	D	0.01	.	20.0827	0.97786	0.0:0.0:1.0:0.0	.	278	Q86WT1	TT30A_HUMAN	S	278	ENSP00000347915:P278S	ENSP00000347915:P278S	P	-	1	0	TTC30A	178190844	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.979000	0.56888	2.755000	0.94549	0.549000	0.68633	CCA		0.507	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2	NM_152275		5	149	0	0	0	1	0	5	149				
CAP2	10486	broad.mit.edu	37	6	17543104	17543104	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr6:17543104G>C	ENST00000229922.2	+	10	1571	c.1039G>C	c.(1039-1041)Gag>Cag	p.E347Q	CAP2_ENST00000378990.2_Missense_Mutation_p.E321Q|CAP2_ENST00000465994.1_Missense_Mutation_p.E283Q|CAP2_ENST00000493172.1_Missense_Mutation_p.E87Q|CAP2_ENST00000489374.1_Missense_Mutation_p.E235Q	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	347	C-CAP/cofactor C-like. {ECO:0000255|PROSITE-ProRule:PRU00659}.				activation of adenylate cyclase activity (GO:0007190)|axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|establishment or maintenance of cell polarity (GO:0007163)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			TGTGATTTCAGAGACTGAGCT	0.348																																						ENST00000229922.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27						c.(1039-1041)Gag>Cag		CAP, adenylate cyclase-associated protein, 2 (yeast)							131.0	127.0	128.0					6																	17543104		2203	4300	6503	SO:0001583	missense	10486				activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding	g.chr6:17543104G>C	BC008481	CCDS4539.1	6p22.3	2008-02-05			ENSG00000112186	ENSG00000112186			20039	protein-coding gene	gene with protein product						7962207, 8761950	Standard	NM_006366		Approved		uc003ncb.3	P40123	OTTHUMG00000014311	ENST00000229922.2:c.1039G>C	6.37:g.17543104G>C	ENSP00000229922:p.Glu347Gln					CAP2_ENST00000489374.1_Missense_Mutation_p.E235Q|CAP2_ENST00000493172.1_Missense_Mutation_p.E87Q|CAP2_ENST00000465994.1_Missense_Mutation_p.E283Q|CAP2_ENST00000378990.2_Missense_Mutation_p.E321Q	p.E347Q	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	all cancers(50;0.194)|Epithelial(50;0.227)		10	1571	+	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	347			C-CAP/cofactor C-like.		B2R5Y3|B7Z1C4|B7Z214|Q6IAY2	Missense_Mutation	SNP	ENST00000229922.2	37	c.1039G>C	CCDS4539.1	.	.	.	.	.	.	.	.	.	.	g	15.22	2.769781	0.49680	.	.	ENSG00000112186	ENST00000229922;ENST00000378994;ENST00000489374;ENST00000378990;ENST00000493172;ENST00000465994	T;T;T;T	0.09630	2.96;2.97;2.96;2.96	5.99	3.23	0.37069	Cyclase-associated protein CAP/septum formation inhibitor MinC, C-terminal (1);Adenylate cyclase-associated CAP, C-terminal (2);C-CAP/cofactor C-like domain (1);	0.420938	0.29684	N	0.011469	T	0.04724	0.0128	L	0.48986	1.54	0.45378	D	0.998361	B;B;B;B;B	0.33777	0.425;0.036;0.013;0.006;0.02	B;B;B;B;B	0.36289	0.221;0.039;0.038;0.052;0.08	T	0.27020	-1.0086	10	0.36615	T	0.2	-15.0208	8.1964	0.31398	0.1961:0.1169:0.687:0.0	.	87;235;283;321;347	B7Z214;B7Z385;B7Z1C4;E9PDI2;P40123	.;.;.;.;CAP2_HUMAN	Q	347;264;235;321;87;283	ENSP00000229922:E347Q;ENSP00000417705:E235Q;ENSP00000368275:E321Q;ENSP00000418604:E283Q	ENSP00000229922:E347Q	E	+	1	0	CAP2	17651083	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	4.821000	0.62679	0.867000	0.35654	0.655000	0.94253	GAG		0.348	CAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039952.2			23	120	0	0	0	1	0	23	120				
APBB2	323	broad.mit.edu	37	4	40818228	40818228	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr4:40818228G>A	ENST00000295974.8	-	18	2787	c.2158C>T	c.(2158-2160)Cga>Tga	p.R720*	APBB2_ENST00000508593.1_Nonsense_Mutation_p.R721*|RP11-632F7.3_ENST00000513127.1_RNA|APBB2_ENST00000543538.1_Nonsense_Mutation_p.R172*|APBB2_ENST00000502841.1_Nonsense_Mutation_p.R172*|APBB2_ENST00000504305.1_Nonsense_Mutation_p.R172*|APBB2_ENST00000506352.1_Nonsense_Mutation_p.R699*|APBB2_ENST00000513140.1_Nonsense_Mutation_p.R698*	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	720	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GGAGGTGGTCGAACTTTCTGA	0.423																																					Ovarian(3;20 75 16686 49997)	ENST00000295974.8																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						c.(2158-2160)Cga>Tga		amyloid beta (A4) precursor protein-binding, family B, member 2							135.0	136.0	135.0					4																	40818228		1942	4143	6085	SO:0001587	stop_gained	323				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	g.chr4:40818228G>A	U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"""Fe65-like"""	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.2158C>T	4.37:g.40818228G>A	ENSP00000295974:p.Arg720*					APBB2_ENST00000504305.1_Nonsense_Mutation_p.R172*|APBB2_ENST00000513140.1_Nonsense_Mutation_p.R698*|APBB2_ENST00000508593.1_Nonsense_Mutation_p.R721*|APBB2_ENST00000506352.1_Nonsense_Mutation_p.R699*|APBB2_ENST00000502841.1_Nonsense_Mutation_p.R172*|APBB2_ENST00000543538.1_Nonsense_Mutation_p.R172*|RP11-632F7.3_ENST00000513127.1_RNA	p.R720*	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN			18	2787	-			720			PID 2.		B4DSL4|E9PG87|Q8IUI6	Nonsense_Mutation	SNP	ENST00000295974.8	37	c.2158C>T	CCDS54761.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	7.256433|7.256433	0.98168|0.98168	.|.	.|.	ENSG00000163697|ENSG00000163697	ENST00000295974;ENST00000316212;ENST00000543538;ENST00000513140;ENST00000508593;ENST00000502841;ENST00000506352;ENST00000504305|ENST00000513611	.|.	.|.	.|.	5.73|5.73	4.89|4.89	0.63831|0.63831	.|.	0.172585|.	0.53938|.	D|.	0.000054|.	.|T	.|0.70254	.|0.3203	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69584	.|-0.5106	.|4	0.09843|.	T|.	0.71|.	-10.421|-10.421	14.2988|14.2988	0.66331|0.66331	0.0705:0.0:0.9294:0.0|0.0705:0.0:0.9294:0.0	.|.	.|.	.|.	.|.	X|L	720;719;172;698;721;172;699;172|689	.|.	ENSP00000295974:R720X|.	R|S	-|-	1|2	2|0	APBB2|APBB2	40512985|40512985	1.000000|1.000000	0.71417|0.71417	0.079000|0.079000	0.20413|0.20413	0.011000|0.011000	0.07611|0.07611	5.154000|5.154000	0.64894|0.64894	1.429000|1.429000	0.47314|0.47314	0.650000|0.650000	0.86243|0.86243	CGA|TCG		0.423	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	NM_173075		22	114	0	0	0	1	0	22	114				
IRF8	3394	broad.mit.edu	37	16	85946766	85946766	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr16:85946766C>G	ENST00000268638.5	+	5	899	c.477C>G	c.(475-477)atC>atG	p.I159M	IRF8_ENST00000562492.1_5'Flank	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	159					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				TGGGGATGATCAAAAGGAGCC	0.612																																						ENST00000268638.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24						c.(475-477)atC>atG		interferon regulatory factor 8							113.0	119.0	117.0					16																	85946766		2198	4300	6498	SO:0001583	missense	3394				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:85946766C>G	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"""interferon consensus sequence binding protein 1"""	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.477C>G	16.37:g.85946766C>G	ENSP00000268638:p.Ile159Met						p.I159M	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN			5	899	+		Prostate(104;0.0771)	159					A0AV82	Missense_Mutation	SNP	ENST00000268638.5	37	c.477C>G	CCDS10956.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.808479	0.31961	.	.	ENSG00000140968	ENST00000268638	D	0.97186	-4.28	4.86	0.0512	0.14296	.	0.690962	0.14492	N	0.316267	D	0.92440	0.7600	N	0.24115	0.695	0.80722	D	1	B	0.22800	0.075	B	0.29598	0.104	D	0.84478	0.0603	10	0.33141	T	0.24	-20.0207	9.2498	0.37549	0.331:0.3284:0.3406:0.0	.	159	Q02556	IRF8_HUMAN	M	159	ENSP00000268638:I159M	ENSP00000268638:I159M	I	+	3	3	IRF8	84504267	0.995000	0.38212	0.953000	0.39169	0.992000	0.81027	0.176000	0.16782	0.165000	0.19558	0.561000	0.74099	ATC		0.612	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163		18	201	0	0	0	1	0	18	201				
TACR3	6870	broad.mit.edu	37	4	104511051	104511051	+	Silent	SNP	G	G	T	rs201065494		TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr4:104511051G>T	ENST00000304883.2	-	5	1326	c.1186C>A	c.(1186-1188)Cgg>Agg	p.R396R	RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	396					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CTGCTTTGCCGGTTTGGATGA	0.498																																						ENST00000304883.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(1186-1188)Cgg>Agg		tachykinin receptor 3		G		0,4406		0,0,2203	193.0	180.0	184.0		1186	4.1	0.7	4		184	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TACR3	NM_001059.2		0,1,6502	TT,TG,GG		0.0116,0.0,0.0077		396/466	104511051	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104511051G>T	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.1186C>A	4.37:g.104511051G>T						RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	p.R396R	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	5	1326	-		Hepatocellular(203;0.217)	396					Q0P510	Silent	SNP	ENST00000304883.2	37	c.1186C>A	CCDS3664.1																																																																																				0.498	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		7	181	1	0	0.00198382	1	0.00199841	7	181				
AIM1	202	broad.mit.edu	37	6	106969030	106969030	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr6:106969030C>T	ENST00000369066.3	+	2	3210	c.2723C>T	c.(2722-2724)tCg>tTg	p.S908L		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AATTTCAACTCGTCAAGTACA	0.458																																						ENST00000369066.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(2722-2724)tCg>tTg		absent in melanoma 1							99.0	109.0	106.0					6																	106969030		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106969030C>T	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.2723C>T	6.37:g.106969030C>T	ENSP00000358062:p.Ser908Leu						p.S908L	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	2	3210	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	908					Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.2723C>T	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.656674	0.47467	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.72835	-0.69	5.99	5.99	0.97316	.	1.078550	0.07153	N	0.849514	T	0.54679	0.1873	M	0.67953	2.075	0.80722	D	1	P	0.48998	0.918	B	0.33799	0.17	T	0.64188	-0.6466	10	0.87932	D	0	.	9.3231	0.37977	0.0:0.8817:0.0:0.1183	.	908	Q9Y4K1	AIM1_HUMAN	L	1316;908	ENSP00000358062:S908L	ENSP00000285105:S1316L	S	+	2	0	AIM1	107075723	0.960000	0.32886	0.090000	0.20809	0.500000	0.33767	3.377000	0.52425	2.840000	0.97914	0.655000	0.94253	TCG		0.458	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			31	145	0	0	0	1	0	31	145				
ITIH3	3699	broad.mit.edu	37	3	52841918	52841918	+	Missense_Mutation	SNP	C	C	T	rs184153550		TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr3:52841918C>T	ENST00000449956.2	+	20	2423	c.2417C>T	c.(2416-2418)aCg>aTg	p.T806M	ITIH3_ENST00000416872.2_Missense_Mutation_p.T614M	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	806					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TCAGCACAGACGCATGGGCTG	0.557																																						ENST00000449956.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25						c.(2416-2418)aCg>aTg		inter-alpha-trypsin inhibitor heavy chain 3							49.0	48.0	48.0					3																	52841918		2202	4300	6502	SO:0001583	missense	3699				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52841918C>T		CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"""pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3"""	146650	"""inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3"""			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.2417C>T	3.37:g.52841918C>T	ENSP00000415769:p.Thr806Met					ITIH3_ENST00000416872.2_Missense_Mutation_p.T614M	p.T806M	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	20	2423	+			806					Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	ENST00000449956.2	37	c.2417C>T	CCDS46845.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	17.77	3.471967	0.63737	.	.	ENSG00000162267	ENST00000273291;ENST00000416872;ENST00000449956	T;T	0.12879	2.64;2.64	4.98	4.98	0.66077	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.197282	0.44688	D	0.000439	T	0.40322	0.1112	M	0.82056	2.57	0.30274	N	0.791953	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.961	T	0.41805	-0.9488	10	0.66056	D	0.02	-6.042	15.5385	0.76021	0.0:1.0:0.0:0.0	.	614;806	E7ET33;Q06033	.;ITIH3_HUMAN	M	801;614;806	ENSP00000413922:T614M;ENSP00000415769:T806M	ENSP00000273291:T801M	T	+	2	0	ITIH3	52816958	0.833000	0.29383	0.977000	0.42913	0.980000	0.70556	2.093000	0.41710	2.490000	0.84030	0.643000	0.83706	ACG		0.557	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217		4	14	0	0	0	1	0	4	14				
ALG3	10195	broad.mit.edu	37	3	183963099	183963099	+	Silent	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr3:183963099G>A	ENST00000397676.3	-	4	522	c.492C>T	c.(490-492)gtC>gtT	p.V164V	ALG3_ENST00000418734.2_Silent_p.V108V|ALG3_ENST00000445626.2_Silent_p.V116V|ALG3_ENST00000455059.1_Silent_p.V124V|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000463495.1_5'Flank	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	164					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)|dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity (GO:0052925)			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGATGGAGTGGACACGGTAAG	0.552																																						ENST00000455059.1																			0				kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						c.(370-372)gtC>gtT		ALG3, alpha-1,3- mannosyltransferase							33.0	36.0	35.0					3																	183963099		2036	4194	6230	SO:0001819	synonymous_variant	10195				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity	g.chr3:183963099G>A	BC002839	CCDS46967.1, CCDS46968.1	3q27.3	2013-02-26	2013-02-26		ENSG00000214160	ENSG00000214160	2.4.1.258	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	23056	protein-coding gene	gene with protein product	"""carbohydrate deficient glycoprotein syndrome type IV"", ""dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase"", ""dol-P-Man dependent alpha-1,3- mannosyltransferase"""	608750	"""asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)"", ""asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)"""			1058125	Standard	NM_005787		Approved	NOT56L, Not56, CDGS4, D16Ertd36e	uc003fne.2	Q92685	OTTHUMG00000156823	ENST00000397676.3:c.492C>T	3.37:g.183963099G>A						EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000418734.2_Silent_p.V108V|ALG3_ENST00000397676.3_Silent_p.V164V|ALG3_ENST00000445626.2_Silent_p.V116V	p.V124V			Q92685	ALG3_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		4	826	-	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		164					A8JZZ6|Q9BT71	Silent	SNP	ENST00000397676.3	37	c.372C>T	CCDS46968.1	.	.	.	.	.	.	.	.	.	.	G	9.529	1.110356	0.20714	.	.	ENSG00000214160	ENST00000446569	.	.	.	5.14	2.21	0.28008	.	.	.	.	.	T	0.57784	0.2077	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49194	-0.8965	4	.	.	.	-22.0762	9.0769	0.36527	0.0787:0.4305:0.4908:0.0	.	.	.	.	S	68	.	.	P	-	1	0	ALG3	185445793	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.843000	0.39259	0.140000	0.18849	0.462000	0.41574	CCA		0.552	ALG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346033.1	NM_005787		6	46	0	0	0	1	0	6	46				
CHD8	57680	broad.mit.edu	37	14	21873401	21873401	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr14:21873401G>A	ENST00000557364.1	-	16	3537	c.3274C>T	c.(3274-3276)Cgc>Tgc	p.R1092C	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.R813C|CHD8_ENST00000399982.2_Missense_Mutation_p.R1092C			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1092					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CAGCACTTGCGCAACTCCATC	0.433																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(3274-3276)Cgc>Tgc		chromodomain helicase DNA binding protein 8							84.0	79.0	80.0					14																	21873401		1932	4140	6072	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21873401G>A	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.3274C>T	14.37:g.21873401G>A	ENSP00000451601:p.Arg1092Cys					CHD8_ENST00000557364.1_Missense_Mutation_p.R1092C|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.R813C	p.R1092C	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	15	3338	-	all_cancers(95;0.00121)		1092					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.3274C>T	CCDS53885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.2|26.2	4.710369|4.710369	0.89018|0.89018	.|.	.|.	ENSG00000100888|ENSG00000100888	ENST00000555935|ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	.|T;T;T	.|0.80566	.|-1.39;-1.39;-1.39	4.78|4.78	4.78|4.78	0.61160|0.61160	.|SNF2-related (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94328|0.94328	0.8177|0.8177	H|H	0.99225|0.99225	4.475|4.475	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	D|D	0.96585|0.96585	0.9433|0.9433	5|10	.|0.87932	.|D	.|0	-12.3316|-12.3316	17.0978|17.0978	0.86641|0.86641	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1092;813	.|Q9HCK8;Q9HCK8-2	.|CHD8_HUMAN;.	V|C	317|813;1092;812;1092	.|ENSP00000406288:R813C;ENSP00000382863:R1092C;ENSP00000451601:R1092C	.|ENSP00000262707:R812C	A|R	-|-	2|1	0|0	CHD8|CHD8	20943241|20943241	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.727000|3.727000	0.54984|0.54984	2.646000|2.646000	0.89796|0.89796	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.433	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		13	19	0	0	0	1	0	13	19				
ERCC2	2068	broad.mit.edu	37	19	45867709	45867709	+	Missense_Mutation	SNP	C	C	T	rs200895828	byFrequency	TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr19:45867709C>T	ENST00000391945.4	-	8	768	c.691G>A	c.(691-693)Gtg>Atg	p.V231M	ERCC2_ENST00000391940.4_Missense_Mutation_p.V207M|ERCC2_ENST00000221481.6_Intron|ERCC2_ENST00000391944.3_Missense_Mutation_p.V153M|ERCC2_ENST00000485403.2_Missense_Mutation_p.V207M	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	231	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		TCGAAGACCACGACGGCCTTG	0.632			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				C|||	3	0.000599042	0.0	0.0	5008	,	,		14045	0.003		0.0	False		,,,				2504	0.0					ENST00000391945.4			yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	"""Mis, N, F, S"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9						c.(691-693)Gtg>Atg	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 2							44.0	37.0	39.0					19																	45867709		2203	4300	6503	SO:0001583	missense	2068	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	g.chr19:45867709C>T		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.691G>A	19.37:g.45867709C>T	ENSP00000375809:p.Val231Met					ERCC2_ENST00000391944.3_Missense_Mutation_p.V153M|ERCC2_ENST00000221481.6_Intron|ERCC2_ENST00000485403.2_Missense_Mutation_p.V207M|ERCC2_ENST00000391940.4_Missense_Mutation_p.V207M	p.V231M	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	8	768	-		Ovarian(192;0.0728)|all_neural(266;0.112)	231			Helicase ATP-binding.		Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	c.691G>A	CCDS33049.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	24.6	4.551086	0.86127	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944;ENST00000391940	T;T;T;T	0.76316	-1.01;-1.01;-1.01;0.56	4.62	4.62	0.57501	DEAD2 (1);Helicase-like, DEXD box c2 type (1);DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.000000	0.85682	D	0.000000	D	0.92087	0.7492	H	0.97240	3.965	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.992;0.983	D	0.94541	0.7745	10	0.87932	D	0	-36.438	15.3342	0.74238	0.0:1.0:0.0:0.0	.	153;207;231	E7EVE9;Q7KZU6;P18074	.;.;ERCC2_HUMAN	M	181;207;231;153;207	ENSP00000375805:V181M;ENSP00000375809:V231M;ENSP00000375808:V153M;ENSP00000375804:V207M	ENSP00000375804:V207M	V	-	1	0	ERCC2	50559549	1.000000	0.71417	0.950000	0.38849	0.776000	0.43924	7.236000	0.78154	2.544000	0.85801	0.561000	0.74099	GTG		0.632	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400		9	46	0	0	0	1	0	9	46				
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	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"""		617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010465|CM900211	TP53	M	rs121912651	c.(742-744)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53							151.0	112.0	125.0					17																	7577539		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577539G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp	HNSCC(1;<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_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W	p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	874	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|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.742C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		23	73	0	0	0	1	0	23	73				
FHDC1	85462	broad.mit.edu	37	4	153896526	153896526	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr4:153896526C>G	ENST00000511601.1	+	12	2271	c.2083C>G	c.(2083-2085)Cag>Gag	p.Q695E	FHDC1_ENST00000260008.3_Missense_Mutation_p.Q695E			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	695									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GGAGACCTCCCAGCTGACTCT	0.617																																						ENST00000511601.1																		ARFIP1/FHDC1(2)	0				NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2083-2085)Cag>Gag		FH2 domain containing 1							44.0	46.0	45.0					4																	153896526		2203	4300	6503	SO:0001583	missense	85462				actin cytoskeleton organization		actin binding	g.chr4:153896526C>G	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.2083C>G	4.37:g.153896526C>G	ENSP00000427567:p.Gln695Glu					FHDC1_ENST00000260008.3_Missense_Mutation_p.Q695E	p.Q695E			Q9C0D6	FHDC1_HUMAN			12	2271	+	all_hematologic(180;0.093)		695						Missense_Mutation	SNP	ENST00000511601.1	37	c.2083C>G	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	C	3.037	-0.198247	0.06219	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.29655	1.56;1.56	5.02	-0.419	0.12340	.	3.726640	0.00397	N	0.000044	T	0.16385	0.0394	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.15150	-1.0447	10	0.02654	T	1	.	4.2205	0.10556	0.2987:0.2999:0.3298:0.0716	.	695	Q9C0D6	FHDC1_HUMAN	E	695	ENSP00000427567:Q695E;ENSP00000260008:Q695E	ENSP00000260008:Q695E	Q	+	1	0	FHDC1	154115976	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.082000	0.11304	0.179000	0.19938	0.563000	0.77884	CAG		0.617	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		9	45	0	0	0	1	0	9	45				
BTN3A1	11119	broad.mit.edu	37	6	26406190	26406190	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr6:26406190G>C	ENST00000289361.6	+	3	507	c.139G>C	c.(139-141)Gac>Cac	p.D47H	BTN3A1_ENST00000414912.2_Missense_Mutation_p.D47H|BTN3A1_ENST00000476549.2_Missense_Mutation_p.D47H|BTN3A1_ENST00000425234.2_Missense_Mutation_p.D47H	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	47	Ig-like V-type 1.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GGTGGGTGAAGACGCTGATCT	0.577																																						ENST00000289361.6																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(139-141)Gac>Cac		butyrophilin, subfamily 3, member A1							64.0	70.0	68.0					6																	26406190		2203	4297	6500	SO:0001583	missense	11119				lipid metabolic process	integral to membrane		g.chr6:26406190G>C	U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.139G>C	6.37:g.26406190G>C	ENSP00000289361:p.Asp47His					BTN3A1_ENST00000476549.2_Missense_Mutation_p.D47H|BTN3A1_ENST00000414912.2_Missense_Mutation_p.D47H|BTN3A1_ENST00000425234.2_Missense_Mutation_p.D47H	p.D47H	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN			3	507	+			47			Ig-like V-type 1.		A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Missense_Mutation	SNP	ENST00000289361.6	37	c.139G>C	CCDS4608.1	.	.	.	.	.	.	.	.	.	.	.	16.45	3.125812	0.56721	.	.	ENSG00000026950	ENST00000476549;ENST00000289361;ENST00000450085;ENST00000425234;ENST00000506698;ENST00000414912	T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;4.09;-0.19	2.21	1.3	0.21679	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66117	0.2757	M	0.77712	2.385	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.979;0.996;0.992;0.979	T	0.54323	-0.8311	9	0.87932	D	0	.	8.0808	0.30744	0.0:0.0:0.7569:0.2431	.	47;47;47;47	E9PGB4;O00481-3;O00481-2;O00481	.;.;.;BT3A1_HUMAN	H	47	ENSP00000420010:D47H;ENSP00000289361:D47H;ENSP00000394937:D47H;ENSP00000396684:D47H;ENSP00000427013:D47H;ENSP00000406667:D47H	ENSP00000289361:D47H	D	+	1	0	BTN3A1	26514169	0.227000	0.23707	0.008000	0.14137	0.703000	0.40648	2.081000	0.41596	0.475000	0.27415	0.556000	0.70494	GAC		0.577	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3			11	120	0	0	0	1	0	11	120				
ST3GAL5	8869	broad.mit.edu	37	2	86075066	86075066	+	Missense_Mutation	SNP	G	G	A	rs377626779		TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr2:86075066G>A	ENST00000377332.3	-	4	688	c.580C>T	c.(580-582)Cgc>Tgc	p.R194C	ST3GAL5_ENST00000393808.3_Missense_Mutation_p.R171C|ST3GAL5_ENST00000393805.1_Missense_Mutation_p.R166C	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	194					carbohydrate metabolic process (GO:0005975)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	lactosylceramide alpha-2,3-sialyltransferase activity (GO:0047291)|neolactotetraosylceramide alpha-2,3-sialyltransferase activity (GO:0004513)|sialyltransferase activity (GO:0008373)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						ACCACACAGCGCCGACAGGTC	0.498																																						ENST00000377332.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						c.(580-582)Cgc>Tgc		ST3 beta-galactoside alpha-2,3-sialyltransferase 5		G	CYS/ARG,CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	138.0	131.0	133.0		511,580	5.1	0.7	2		133	0,8600		0,0,4300	no	missense,missense	ST3GAL5	NM_001042437.1,NM_003896.3	180,180	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging	171/396,194/419	86075066	2,13004	2203	4300	6503	SO:0001583	missense	8869				ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity	g.chr2:86075066G>A	AB018356	CCDS1986.2, CCDS42705.1	2p11.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000115525	ENSG00000115525	2.4.99.9	"""Sialyltransferases"""	10872	protein-coding gene	gene with protein product		604402	"""sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase)"""	SIAT9		9822625	Standard	NM_003896		Approved	ST3GalV, SIATGM3S	uc002sqq.1	Q9UNP4	OTTHUMG00000130171	ENST00000377332.3:c.580C>T	2.37:g.86075066G>A	ENSP00000366549:p.Arg194Cys					ST3GAL5_ENST00000393808.3_Missense_Mutation_p.R171C|ST3GAL5_ENST00000393805.1_Missense_Mutation_p.R166C	p.R194C	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN			4	688	-			194					B3KM82|D6W5L9|O94902|Q53QU1|Q6NZX4|Q6YFL1	Missense_Mutation	SNP	ENST00000377332.3	37	c.580C>T	CCDS1986.2	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000067	0.74818	4.54E-4	0.0	ENSG00000115525	ENST00000393808;ENST00000393805;ENST00000377332	T;T;T	0.36520	1.25;1.25;1.25	5.12	5.12	0.69794	.	0.099614	0.64402	D	0.000002	T	0.62159	0.2405	M	0.86343	2.81	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	P;D;P	0.66084	0.903;0.941;0.903	T	0.69026	-0.5254	10	0.87932	D	0	-13.6633	12.625	0.56623	0.0:0.0:0.8346:0.1653	.	166;194;171	Q9UNP4-2;Q9UNP4;Q9UNP4-3	.;SIAT9_HUMAN;.	C	171;166;194	ENSP00000377397:R171C;ENSP00000377394:R166C;ENSP00000366549:R194C	ENSP00000366549:R194C	R	-	1	0	ST3GAL5	85928577	1.000000	0.71417	0.746000	0.31095	0.914000	0.54420	5.451000	0.66632	2.388000	0.81334	0.555000	0.69702	CGC		0.498	ST3GAL5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252486.1	NM_003896		4	187	0	0	0	1	0	4	187				
NSMF	26012	broad.mit.edu	37	9	140352951	140352951	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr9:140352951C>T	ENST00000371475.3	-	2	353	c.122G>A	c.(121-123)cGc>cAc	p.R41H	NSMF_ENST00000392812.4_Missense_Mutation_p.R41H|NSMF_ENST00000339554.3_5'Flank|NSMF_ENST00000265663.7_Missense_Mutation_p.R41H|NSMF_ENST00000371472.2_Missense_Mutation_p.R41H|NSMF_ENST00000371474.3_Missense_Mutation_p.R41H|NSMF_ENST00000437259.1_Missense_Mutation_p.R41H|NSMF_ENST00000371473.3_Missense_Mutation_p.R41H|PNPLA7_ENST00000492278.1_5'Flank	NM_001130969.1	NP_001124441.1	Q6X4W1	NSMF_HUMAN	NMDA receptor synaptonuclear signaling and neuronal migration factor	41	Necessary and sufficient to elicit dendritic processes and synaptic contacts. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|cellular response to electrical stimulus (GO:0071257)|cellular response to gonadotropin stimulus (GO:0071371)|positive regulation of neuron migration (GO:2001224)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of dendrite morphogenesis (GO:0048814)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuronal synaptic plasticity (GO:0048168)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuron projection (GO:0043005)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium-dependent protein binding (GO:0048306)										TGCGCCGTTGCGGTTCTCAGG	0.697																																						ENST00000371475.3																			0											c.(121-123)cGc>cAc		NMDA receptor synaptonuclear signaling and neuronal migration factor							35.0	33.0	33.0					9																	140352951		2177	4291	6468	SO:0001583	missense	26012							g.chr9:140352951C>T		CCDS7044.1, CCDS48067.1, CCDS48068.1, CCDS48069.1, CCDS55357.1	9q34.3	2013-01-14	2013-01-14	2013-01-14	ENSG00000165802	ENSG00000165802			29843	protein-coding gene	gene with protein product		608137	"""nasal embryonic LHRH factor"""	NELF		11230166, 10898796	Standard	NM_015537		Approved		uc004cna.3	Q6X4W1	OTTHUMG00000020989	ENST00000371475.3:c.122G>A	9.37:g.140352951C>T	ENSP00000360530:p.Arg41His					NSMF_ENST00000392812.4_Missense_Mutation_p.R41H|NSMF_ENST00000437259.1_Missense_Mutation_p.R41H|NSMF_ENST00000371474.3_Missense_Mutation_p.R41H|NSMF_ENST00000265663.7_Missense_Mutation_p.R41H|NSMF_ENST00000371472.2_Missense_Mutation_p.R41H|NSMF_ENST00000371473.3_Missense_Mutation_p.R41H	p.R41H	NM_001130969.1	NP_001124441.1					2	353	-								Q2TB96|Q6X4V7|Q6X4V8|Q6X4V9|Q8N2M2|Q96SY1|Q9NPM4|Q9NPP3|Q9NPS3	Missense_Mutation	SNP	ENST00000371475.3	37	c.122G>A	CCDS48069.1	.	.	.	.	.	.	.	.	.	.	c	24.9	4.581250	0.86748	.	.	ENSG00000165802	ENST00000371475;ENST00000265663;ENST00000437259;ENST00000392812;ENST00000371474;ENST00000371473;ENST00000371472	T;T;T;T;T;T;T	0.57907	0.49;0.48;0.37;0.37;0.37;0.39;0.48	3.38	3.38	0.38709	.	0.083095	0.48286	U	0.000181	T	0.59418	0.2192	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.79784	0.993;0.993;0.993;0.993;0.993	T	0.62647	-0.6810	10	0.72032	D	0.01	.	11.4614	0.50213	0.0:1.0:0.0:0.0	.	41;41;41;41;41	Q6X4W1-3;Q2TB96;Q6X4W1-4;Q6X4W1;Q6X4W1-2	.;.;.;NELF_HUMAN;.	H	41	ENSP00000360530:R41H;ENSP00000265663:R41H;ENSP00000412007:R41H;ENSP00000376559:R41H;ENSP00000360529:R41H;ENSP00000360528:R41H;ENSP00000360527:R41H	ENSP00000265663:R41H	R	-	2	0	NELF	139472772	0.998000	0.40836	0.987000	0.45799	0.932000	0.56968	5.032000	0.64140	1.441000	0.47550	0.462000	0.41574	CGC		0.697	NSMF-204	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015537		12	9	0	0	0	1	0	12	9				
CACNA1H	8912	broad.mit.edu	37	16	1265004	1265004	+	Silent	SNP	C	C	T	rs57204601		TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr16:1265004C>T	ENST00000348261.5	+	28	5210	c.4962C>T	c.(4960-4962)taC>taT	p.Y1654Y	CACNA1H_ENST00000358590.4_Silent_p.Y1648Y|CACNA1H_ENST00000565831.1_Silent_p.Y1648Y	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1654					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	ACTGCAACTACGTCTTCACCA	0.622																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(4960-4962)taC>taT		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						142.0	145.0	144.0					16																	1265004		2068	4189	6257	SO:0001819	synonymous_variant	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1265004C>T	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.4962C>T	16.37:g.1265004C>T						CACNA1H_ENST00000565831.1_Silent_p.Y1648Y|CACNA1H_ENST00000358590.4_Silent_p.Y1648Y	p.Y1654Y	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			28	5210	+		Hepatocellular(780;0.00369)	1654					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	ENST00000348261.5	37	c.4962C>T	CCDS45375.1																																																																																				0.622	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		10	18	0	0	0	1	0	10	18				
FREM2	341640	broad.mit.edu	37	13	39430380	39430380	+	Missense_Mutation	SNP	T	T	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr13:39430380T>A	ENST00000280481.7	+	12	7259	c.7043T>A	c.(7042-7044)aTa>aAa	p.I2348K		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2348					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GAAAATATGATAGCAGAGATG	0.408																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(7042-7044)aTa>aAa		FRAS1 related extracellular matrix protein 2							107.0	105.0	106.0					13																	39430380		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39430380T>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.7043T>A	13.37:g.39430380T>A	ENSP00000280481:p.Ile2348Lys						p.I2348K	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	12	7259	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2348					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.7043T>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	T	16.76	3.211024	0.58343	.	.	ENSG00000150893	ENST00000280481	T	0.27256	1.68	5.79	5.79	0.91817	.	0.252874	0.39475	N	0.001342	T	0.25754	0.0627	L	0.43152	1.355	0.58432	D	0.999991	P;B	0.46706	0.883;0.134	B;B	0.40477	0.33;0.075	T	0.01925	-1.1246	10	0.48119	T	0.1	.	16.1343	0.81471	0.0:0.0:0.0:1.0	.	2348;2348	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	K	2348	ENSP00000280481:I2348K	ENSP00000280481:I2348K	I	+	2	0	FREM2	38328380	1.000000	0.71417	0.677000	0.29947	0.913000	0.54294	6.275000	0.72594	2.209000	0.71365	0.533000	0.62120	ATA		0.408	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		6	73	0	0	0	1	0	6	73				
YLPM1	56252	broad.mit.edu	37	14	75278337	75278337	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr14:75278337G>A	ENST00000552421.1	+	9	3249	c.3125G>A	c.(3124-3126)cGa>cAa	p.R1042Q	YLPM1_ENST00000325680.7_Missense_Mutation_p.R1748Q|YLPM1_ENST00000238571.3_Missense_Mutation_p.R1553Q			P49750	YLPM1_HUMAN	YLP motif containing 1	1553	Arg-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CAGTCATATCGAGACAAAAAA	0.433																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(5242-5244)cGa>cAa		YLP motif containing 1							75.0	70.0	71.0					14																	75278337		1850	4099	5949	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75278337G>A	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.3125G>A	14.37:g.75278337G>A	ENSP00000447921:p.Arg1042Gln					YLPM1_ENST00000552421.1_Missense_Mutation_p.R1042Q|YLPM1_ENST00000238571.3_Missense_Mutation_p.R1553Q	p.R1748Q	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	10	5367	+			1553					P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	37	c.5243G>A		.	.	.	.	.	.	.	.	.	.	G	31	5.082210	0.94050	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680;ENST00000547879	T;T;T	0.05513	3.43;3.43;3.43	5.91	5.91	0.95273	.	0.000000	0.56097	D	0.000021	T	0.18341	0.0440	L	0.32530	0.975	0.50813	D	0.99989	D;D	0.76494	0.999;0.998	D;D	0.71870	0.975;0.929	T	0.00212	-1.1914	10	0.62326	D	0.03	-8.7897	20.2936	0.98544	0.0:0.0:1.0:0.0	.	1553;1748	P49750-3;P49750-4	.;.	Q	1042;1748;1553;1461;157	ENSP00000447921:R1042Q;ENSP00000324463:R1748Q;ENSP00000238571:R1553Q	ENSP00000238571:R1553Q	R	+	2	0	YLPM1	74348090	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.328000	0.72915	2.801000	0.96364	0.655000	0.94253	CGA		0.433	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		10	44	0	0	0	1	0	10	44				
KIR3DL2	3812	broad.mit.edu	37	19	55378164	55378164	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr19:55378164C>A	ENST00000326321.3	+	9	1379	c.1346C>A	c.(1345-1347)tCa>tAa	p.S449*	KIR3DL2_ENST00000270442.5_Nonsense_Mutation_p.S432*|RNU6-222P_ENST00000362438.1_RNA|KIR3DL1_ENST00000402254.2_Nonsense_Mutation_p.S449*	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	449					cellular defense response (GO:0006968)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		GCACCACAGTCAGGTCTTGAG	0.537																																						ENST00000326321.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23						c.(1345-1347)tCa>tAa		killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2							192.0	192.0	192.0					19																	55378164		2203	4300	6503	SO:0001587	stop_gained	3812				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	g.chr19:55378164C>A	L41270	CCDS12906.1, CCDS58677.1	19q13.4	2014-05-22			ENSG00000240403	ENSG00000240403		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6339	protein-coding gene	gene with protein product		604947				7716543, 8662091	Standard	NM_006737		Approved	cl-5, nkat4, nkat4a, nkat4b, CD158K	uc002qho.4	P43630	OTTHUMG00000065935	ENST00000326321.3:c.1346C>A	19.37:g.55378164C>A	ENSP00000325525:p.Ser449*					KIR3DL1_ENST00000402254.2_Nonsense_Mutation_p.S449*|KIR3DL2_ENST00000270442.5_Nonsense_Mutation_p.S432*	p.S449*	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	9	1379	+			449					Q13238|Q14947|Q14948|Q92684|Q95366|Q95367|Q95368	Nonsense_Mutation	SNP	ENST00000326321.3	37	c.1346C>A	CCDS12906.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.443987	0.25987	.	.	ENSG00000167633;ENSG00000240403;ENSG00000240403	ENST00000402254;ENST00000326321;ENST00000270442	.	.	.	0.825	-0.365	0.12549	.	.	.	.	.	.	.	.	.	.	.	0.20307	N	0.999918	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.5896	0.07983	0.5609:0.4391:0.0:0.0	.	.	.	.	X	449;449;432	.	ENSP00000384528:S449X	S	+	2	0	KIR3DL1;KIR3DL2	60069976	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.077000	0.03416	-0.184000	0.10567	-0.579000	0.04138	TCA		0.537	KIR3DL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141241.1			52	203	1	0	3.4597e-24	1	3.61816e-24	52	203				
CSTA	1475	broad.mit.edu	37	3	122060400	122060409	+	Frame_Shift_Del	DEL	CTGACGGGCT	CTGACGGGCT	-	rs34173813|rs370215343|rs182735423	byFrequency	TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr3:122060400_122060409delCTGACGGGCT	ENST00000264474.3	+	3	332_341	c.283_292delCTGACGGGCT	c.(283-294)ctgacgggctttfs	p.LTGF95fs		NM_005213.3	NP_005204.1	P01040	CYTA_HUMAN	cystatin A (stefin A)	95					keratinocyte differentiation (GO:0030216)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|peptide cross-linking (GO:0018149)|single organismal cell-cell adhesion (GO:0016337)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|protease binding (GO:0002020)|protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)	p.G97G(1)		large_intestine(2)|lung(2)	4				GBM - Glioblastoma multiforme(114;0.155)		GGATGACGAGCTGACGGGCTTTTAGCAGCA	0.386																																					Pancreas(26;157 1503 12440)	ENST00000264474.3																			1	Substitution - coding silent(1)	p.G97G(1)	lung(1)	large_intestine(2)|lung(2)	4	GRCh37	CM076131	CSTA	M	rs34173813	c.(283-294)ttfs		cystatin A (stefin A)																																				SO:0001589	frameshift_variant	1475				keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity|protease binding|protein binding, bridging|structural molecule activity	g.chr3:122060400_122060409delCTGACGGGCT		CCDS3011.1	3q21	2008-04-15			ENSG00000121552	ENSG00000121552			2481	protein-coding gene	gene with protein product		184600		STF1, STFA		1674139	Standard	NM_005213		Approved		uc003eex.3	P01040	OTTHUMG00000159488	ENST00000264474.3:c.283_292delCTGACGGGCT	3.37:g.122060400_122060409delCTGACGGGCT	ENSP00000264474:p.Leu95fs						p.LTGF95fs	NM_005213.3	NP_005204.1	P01040	CYTA_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	3	332_341	+			95					Q6IB90	Frame_Shift_Del	DEL	ENST00000264474.3	37	c.283_292delCTGACGGGCT	CCDS3011.1																																																																																				0.386	CSTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355751.1	NM_005213		29	103						29	103	---	---	---	---
LRCH3	84859	broad.mit.edu	37	3	197598208	197598209	+	Frame_Shift_Ins	INS	-	-	G	rs150594593		TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr3:197598208_197598209insG	ENST00000425562.2	+	19	2005_2006	c.2005_2006insG	c.(2005-2007)cggfs	p.R669fs	LRCH3_ENST00000438796.2_Frame_Shift_Ins_p.R669fs|LRCH3_ENST00000441090.2_Frame_Shift_Ins_p.R515fs|LRCH3_ENST00000334859.4_Frame_Shift_Ins_p.R669fs|LRCH3_ENST00000414675.2_Frame_Shift_Ins_p.R617fs|LRCH3_ENST00000536618.1_Frame_Shift_Ins_p.R264fs			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	669	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		TATTGAGTACCGGTTGAAAGTG	0.386																																						ENST00000438796.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2005-2007)gttfs		leucine-rich repeats and calponin homology (CH) domain containing 3																																				SO:0001589	frameshift_variant	84859					extracellular region		g.chr3:197598208_197598209insG	AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.2007dupG	3.37:g.197598210_197598210dupG	ENSP00000393579:p.Arg669fs					LRCH3_ENST00000441090.2_Frame_Shift_Ins_p.V515fs|LRCH3_ENST00000425562.2_Frame_Shift_Ins_p.V669fs|LRCH3_ENST00000414675.2_Frame_Shift_Ins_p.V617fs|LRCH3_ENST00000334859.4_Frame_Shift_Ins_p.V669fs|LRCH3_ENST00000536618.1_Frame_Shift_Ins_p.V264fs	p.V669fs			Q96II8	LRCH3_HUMAN	Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)	19	2049_2050	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		669			CH.		B4E0T7|Q96FP9|Q9NT52	Frame_Shift_Ins	INS	ENST00000425562.2	37	c.2005_2006insG																																																																																					0.386	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	NM_032773		111	137						111	137	---	---	---	---
INTS4L2	644619	broad.mit.edu	37	7	65150824	65150825	+	RNA	INS	-	-	G	rs374730441|rs202004878|rs183571014|rs553737227	byFrequency	TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr7:65150824_65150825insG	ENST00000430126.2	+	0	757							Q2T9F4	IN4L2_HUMAN	integrator complex subunit 4-like 2																		TCACCCCCCCCCCCGTTAAAAT	0.47																																						ENST00000430126.2																			0																																																			644619							g.chr7:65150824_65150825insG	BC111554		7q11.21	2013-03-26			ENSG00000232270	ENSG00000273024			22351	other	unknown							Standard	NR_027392		Approved	MGC133166	uc003tue.2	Q2T9F4	OTTHUMG00000156558		7.37:g.65150824_65150825insG														0	757	+									RNA	INS	ENST00000430126.2	37																																																																																						0.470	INTS4L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345545.2	NR_027392		3	5						3	5	---	---	---	---
CASC5	57082	broad.mit.edu	37	15	40937256	40937257	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr15:40937256_40937257insA	ENST00000346991.5	+	16	6328_6329	c.5938_5939insA	c.(5938-5940)gaafs	p.E1980fs	CASC5_ENST00000399668.2_Frame_Shift_Ins_p.E1954fs|CTD-2339L15.3_ENST00000559841.1_RNA			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1980	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GAACCTGTGGGAAAAAATGAGA	0.347																																						ENST00000346991.5																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(5938-5940)aaafs		cancer susceptibility candidate 5																																				SO:0001589	frameshift_variant	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40937256_40937257insA	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.5944dupA	15.37:g.40937262_40937262dupA	ENSP00000335463:p.Glu1980fs					CASC5_ENST00000399668.2_Frame_Shift_Ins_p.K1954fs|CTD-2339L15.3_ENST00000559841.1_RNA	p.K1980fs			Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	16	6328_6329	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	1980			Necessary for kinetochore localization and for interaction with NSL1 and DSN1.		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Frame_Shift_Ins	INS	ENST00000346991.5	37	c.5938_5939insA	CCDS42023.1																																																																																				0.347	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		39	131						39	131	---	---	---	---
GPR97	222487	broad.mit.edu	37	16	57714215	57714228	+	Frame_Shift_Del	DEL	GAGGTCAGACCTGA	GAGGTCAGACCTGA	-			TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chr16:57714215_57714228delGAGGTCAGACCTGA	ENST00000333493.4	+	7	867_880	c.706_719delGAGGTCAGACCTGA	c.(706-720)gaggtcagacctgagfs	p.EVRPE236fs	GPR97_ENST00000450388.3_Frame_Shift_Del_p.EVRPE116fs|RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000327655.6_Frame_Shift_Del_p.EVRPE26fs	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	236	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTGCTCCACGGAGGTCAGACCTGAGGGGACCGTG	0.631																																						ENST00000333493.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(706-720)gfs		G protein-coupled receptor 97																																				SO:0001589	frameshift_variant	222487				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57714215_57714228delGAGGTCAGACCTGA	AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"""-"", ""GPCR / Class B : Orphans"""	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.706_719delGAGGTCAGACCTGA	16.37:g.57714215_57714228delGAGGTCAGACCTGA	ENSP00000332900:p.Glu236fs					GPR97_ENST00000450388.3_Frame_Shift_Del_p.EVRPE116fs|GPR97_ENST00000327655.6_Frame_Shift_Del_p.EVRPE26fs	p.EVRPE236fs	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN			7	867_880	+			236			GPS.		Q6ZMF4|Q86SL9|Q8IZF1	Frame_Shift_Del	DEL	ENST00000333493.4	37	c.706_719delGAGGTCAGACCTGA	CCDS10786.1																																																																																				0.631	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257333.2	NM_170776		9	58						9	58	---	---	---	---
NAP1L2	4674	broad.mit.edu	37	X	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-	rs369450592		TCGA-IQ-A61L-01A-11D-A30E-08	TCGA-IQ-A61L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13d6a10b-c193-4f8c-8c0e-c6ea12d338ea	a796c371-c885-4117-8f75-156ff42bd9c5	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gaggac>gac	p.E221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.E79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424														95	0.0251656	0.0272	0.0173	3775	,	,		14422	0.0069		0.0089	False		,,,				2504	0.0317					ENST00000373517.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29						c.(661-666)gac>ga		nucleosome assembly protein 1-like 2																																				SO:0001651	inframe_deletion	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433664_72433666delTCC	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.663_665delGGA	X.37:g.72433673_72433675delTCC	ENSP00000362616:p.Glu221del					NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del	p.ED221del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN			1	1018_1020	-	Renal(35;0.156)		221			Glu-rich (acidic).		B2RE61|B4E161|Q8TAN6	In_Frame_Del	DEL	ENST00000373517.3	37	c.663_665delGGA	CCDS14423.1																																																																																				0.424	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		8	76						8	76	---	---	---	---
