#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
NEO1	4756	broad.mit.edu	37	15	73536774	73536774	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr15:73536774T>C	ENST00000339362.5	+	10	1988	c.1541T>C	c.(1540-1542)aTg>aCg	p.M514T	NEO1_ENST00000558964.1_Missense_Mutation_p.M514T|NEO1_ENST00000560262.1_Missense_Mutation_p.M514T|NEO1_ENST00000261908.6_Missense_Mutation_p.M514T|NEO1_ENST00000560352.1_3'UTR			Q92859	NEO1_HUMAN	neogenin 1	514	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TTTAGAGTTATGGCTCAAAAT	0.473																																						ENST00000339362.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						c.(1540-1542)aTg>aCg		neogenin 1							131.0	109.0	116.0					15																	73536774		2198	4297	6495	SO:0001583	missense	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73536774T>C	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.1541T>C	15.37:g.73536774T>C	ENSP00000341198:p.Met514Thr					NEO1_ENST00000558964.1_Missense_Mutation_p.M514T|NEO1_ENST00000560262.1_Missense_Mutation_p.M514T|NEO1_ENST00000560352.1_3'UTR|NEO1_ENST00000261908.6_Missense_Mutation_p.M514T	p.M514T			Q92859	NEO1_HUMAN			10	1988	+			514			Fibronectin type-III 1.		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	c.1541T>C	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	T	15.04	2.714276	0.48622	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.55052	0.54;0.54	5.78	4.64	0.57946	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.306264	0.40064	N	0.001188	T	0.31544	0.0800	N	0.05383	-0.06	0.43579	D	0.995918	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.15484	0.013;0.011;0.011;0.011	T	0.06409	-1.0828	10	0.35671	T	0.21	-1.8687	10.5608	0.45144	0.0:0.0796:0.0:0.9204	.	514;514;252;514	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	T	514;252;514	ENSP00000341198:M514T;ENSP00000261908:M514T	ENSP00000261908:M514T	M	+	2	0	NEO1	71323827	1.000000	0.71417	0.820000	0.32676	0.979000	0.70002	2.333000	0.43912	0.999000	0.39023	0.528000	0.53228	ATG		0.473	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		19	58	0	0	0	1	0	19	58				
FAM167B	84734	broad.mit.edu	37	1	32713141	32713141	+	Missense_Mutation	SNP	G	G	A	rs549437991		TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr1:32713141G>A	ENST00000373582.3	+	1	308	c.119G>A	c.(118-120)cGg>cAg	p.R40Q		NM_032648.2	NP_116037.2	Q9BTA0	F167B_HUMAN	family with sequence similarity 167, member B	40										endometrium(1)|large_intestine(1)|lung(1)|ovary(2)	5						CAGACTCGGCGGCCCTCATAT	0.627													g|||	1	0.000199681	0.0	0.0	5008	,	,		17993	0.001		0.0	False		,,,				2504	0.0					ENST00000373582.3																			0				endometrium(1)|large_intestine(1)|lung(1)|ovary(2)	5						c.(118-120)cGg>cAg		family with sequence similarity 167, member B							34.0	43.0	40.0					1																	32713141		1985	4160	6145	SO:0001583	missense	84734							g.chr1:32713141G>A	BC004269	CCDS358.2	1p35.1	2010-08-27	2008-06-11	2008-06-11	ENSG00000183615	ENSG00000183615			28133	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 90"""	C1orf90		12477932	Standard	NM_032648		Approved	MGC10820	uc001buw.3	Q9BTA0	OTTHUMG00000007462	ENST00000373582.3:c.119G>A	1.37:g.32713141G>A	ENSP00000362684:p.Arg40Gln						p.R40Q	NM_032648.2	NP_116037.2	Q9BTA0	F167B_HUMAN			1	308	+			40					Q5TDH6	Missense_Mutation	SNP	ENST00000373582.3	37	c.119G>A	CCDS358.2	.	.	.	.	.	.	.	.	.	.	g	27.1	4.801461	0.90538	.	.	ENSG00000183615	ENST00000373582	T	0.58797	0.31	5.51	5.51	0.81932	.	0.000000	0.85682	U	0.000000	T	0.70657	0.3249	M	0.74881	2.28	0.58432	D	0.999996	D	0.67145	0.996	P	0.52627	0.704	T	0.74825	-0.3533	10	0.87932	D	0	-3.8131	19.3687	0.94475	0.0:0.0:1.0:0.0	.	40	Q9BTA0	F167B_HUMAN	Q	40	ENSP00000362684:R40Q	ENSP00000362684:R40Q	R	+	2	0	FAM167B	32485728	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.262000	0.95591	2.762000	0.94881	0.561000	0.74099	CGG		0.627	FAM167B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019615.2	NM_032648		3	44	0	0	0	1	0	3	44				
PIM2	11040	broad.mit.edu	37	X	48772535	48772535	+	Silent	SNP	A	A	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chrX:48772535A>T	ENST00000376509.4	-	4	546	c.357T>A	c.(355-357)ccT>ccA	p.P119P	PIM2_ENST00000485431.1_5'Flank	NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	Pim-2 proto-oncogene, serine/threonine kinase	119	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic mitochondrial changes (GO:0008637)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|response to virus (GO:0009615)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			lung(3)|stomach(1)	4						GGGCGGGCAAAGGCCGCTCGA	0.597																																						ENST00000376509.4																			0				lung(3)|stomach(1)	4						c.(355-357)ccT>ccA		pim-2 oncogene							43.0	36.0	39.0					X																	48772535		2203	4300	6503	SO:0001819	synonymous_variant	11040				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity	g.chrX:48772535A>T	U77735	CCDS14312.1	Xp11.23	2014-06-25	2014-06-25		ENSG00000102096	ENSG00000102096			8987	protein-coding gene	gene with protein product		300295	"""pim-2 oncogene"""			9804974	Standard	NM_006875		Approved		uc004dls.3	Q9P1W9	OTTHUMG00000024132	ENST00000376509.4:c.357T>A	X.37:g.48772535A>T							p.P119P	NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN			4	546	-			119			Protein kinase.		A8K4G6|Q99739	Silent	SNP	ENST00000376509.4	37	c.357T>A	CCDS14312.1																																																																																				0.597	PIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060805.1			12	30	0	0	0	1	0	12	30				
ITPRIP	85450	broad.mit.edu	37	10	106075684	106075684	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr10:106075684C>G	ENST00000337478.1	-	2	297	c.126G>C	c.(124-126)caG>caC	p.Q42H	RP11-127L20.5_ENST00000472915.2_RNA|ITPRIP_ENST00000278071.2_Missense_Mutation_p.Q42H|ITPRIP_ENST00000358187.2_Missense_Mutation_p.Q42H	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	42						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CCTGGTGCGCCTGCATCTTGC	0.657																																						ENST00000278071.2																			0				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						c.(124-126)caG>caC		inositol 1,4,5-trisphosphate receptor interacting protein							68.0	64.0	65.0					10																	106075684		2203	4300	6503	SO:0001583	missense	85450					plasma membrane		g.chr10:106075684C>G	AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"""KIAA1754"", ""inositol 1,4,5-triphosphate receptor interacting protein"""	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.126G>C	10.37:g.106075684C>G	ENSP00000337178:p.Gln42His					ITPRIP_ENST00000337478.1_Missense_Mutation_p.Q42H|ITPRIP_ENST00000358187.2_Missense_Mutation_p.Q42H	p.Q42H	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN			3	578	-			42					D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Missense_Mutation	SNP	ENST00000337478.1	37	c.126G>C	CCDS7557.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.717283	0.48622	.	.	ENSG00000148841	ENST00000337478;ENST00000278071;ENST00000358187;ENST00000458723	T;T;T;T	0.11930	2.73;2.73;2.73;2.73	5.79	4.89	0.63831	.	0.215312	0.39475	N	0.001345	T	0.09686	0.0238	N	0.14661	0.345	0.29499	N	0.855045	P	0.45283	0.855	B	0.41510	0.359	T	0.03545	-1.1026	10	0.59425	D	0.04	-5.311	11.7688	0.51945	0.0:0.8589:0.0:0.1411	.	42	Q8IWB1	IPRI_HUMAN	H	42	ENSP00000337178:Q42H;ENSP00000278071:Q42H;ENSP00000350915:Q42H;ENSP00000414141:Q42H	ENSP00000278071:Q42H	Q	-	3	2	ITPRIP	106065674	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.529000	0.35996	1.440000	0.47531	0.563000	0.77884	CAG		0.657	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	NM_033397		39	52	0	0	0	1	0	39	52				
NSL1	25936	broad.mit.edu	37	1	212957773	212957773	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr1:212957773G>A	ENST00000366977.3	-	3	394	c.376C>T	c.(376-378)Cgt>Tgt	p.R126C	NSL1_ENST00000366975.6_Missense_Mutation_p.R126C|NSL1_ENST00000473995.1_5'UTR|NSL1_ENST00000366976.1_Missense_Mutation_p.R126C|NSL1_ENST00000422588.2_Missense_Mutation_p.R126C|NSL1_ENST00000366978.1_Missense_Mutation_p.R23C	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	126					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		TACTGCTTACGTTTTGTGGCT	0.303																																						ENST00000366977.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9						c.(376-378)Cgt>Tgt		NSL1, MIS12 kinetochore complex component							122.0	114.0	117.0					1																	212957773		2202	4297	6499	SO:0001583	missense	25936				cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr1:212957773G>A	AF255793	CCDS1509.1, CCDS73025.1	1q41	2013-07-03	2013-07-03	2006-11-07	ENSG00000117697	ENSG00000117697			24548	protein-coding gene	gene with protein product		609174	"""chromosome 1 open reading frame 48"", ""NSL1, MIND kinetochore complex component, homolog (S. cerevisiae)"""	C1orf48		20819937	Standard	NM_015471		Approved	DC8, DKFZP566O1646, MIS14	uc001hjn.3	Q96IY1	OTTHUMG00000036806	ENST00000366977.3:c.376C>T	1.37:g.212957773G>A	ENSP00000355944:p.Arg126Cys					NSL1_ENST00000473995.1_5'UTR|NSL1_ENST00000366976.1_Missense_Mutation_p.R126C|NSL1_ENST00000422588.2_Missense_Mutation_p.R126C|NSL1_ENST00000366975.6_Missense_Mutation_p.R126C|NSL1_ENST00000366978.1_Missense_Mutation_p.R23C	p.R126C	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)	3	394	-			126					E7ETD5|Q5SY75|Q9H2M5|Q9NRN8|Q9Y415	Missense_Mutation	SNP	ENST00000366977.3	37	c.376C>T	CCDS1509.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.125066	0.56721	.	.	ENSG00000117697	ENST00000366978;ENST00000366977;ENST00000422588;ENST00000366975;ENST00000366976	D;T;T;T;T	0.82619	-1.63;0.48;-0.13;0.69;-0.1	5.55	4.64	0.57946	.	0.052324	0.85682	N	0.000000	D	0.84602	0.5508	M	0.74258	2.255	0.80722	D	1	P;P;P	0.47253	0.892;0.892;0.892	B;P;B	0.46320	0.376;0.512;0.376	D	0.86107	0.1560	10	0.87932	D	0	-3.8401	12.2209	0.54433	0.0828:0.0:0.9172:0.0	.	126;126;126	B4E071;Q96IY1;E7ETD5	.;NSL1_HUMAN;.	C	23;126;126;126;126	ENSP00000355945:R23C;ENSP00000355944:R126C;ENSP00000388406:R126C;ENSP00000355942:R126C;ENSP00000355943:R126C	ENSP00000355942:R126C	R	-	1	0	NSL1	211024396	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	5.340000	0.65958	1.338000	0.45544	-0.140000	0.14226	CGT		0.303	NSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089398.2	NM_015471		26	86	0	0	0	1	0	26	86				
GLIS3	169792	broad.mit.edu	37	9	3937135	3937135	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr9:3937135G>A	ENST00000324333.10	-	4	1493	c.1300C>T	c.(1300-1302)Cgg>Tgg	p.R434W	GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Missense_Mutation_p.R589W	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	434					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|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 negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GTGTGGCTCCGCAAGTGGATC	0.498																																						ENST00000324333.10																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(1300-1302)Cgg>Tgg		GLIS family zinc finger 3							96.0	97.0	97.0					9																	3937135		2203	4300	6503	SO:0001583	missense	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:3937135G>A	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.1300C>T	9.37:g.3937135G>A	ENSP00000325494:p.Arg434Trp					GLIS3_ENST00000381971.3_Missense_Mutation_p.R589W|GLIS3_ENST00000461870.1_5'UTR	p.R434W	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	4	1493	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	434					B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000324333.10	37	c.1300C>T	CCDS6451.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.369998	0.61624	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.25579	1.79;1.79	5.94	3.92	0.45320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41712	U	0.000824	T	0.55033	0.1895	M	0.87547	2.89	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.64651	-0.6357	10	0.87932	D	0	.	13.4182	0.60980	0.0:0.0:0.6144:0.3856	.	102;102;589;434	Q1PHK2;Q1PHK3;Q8NEA6-2;Q8NEA6	.;.;.;GLIS3_HUMAN	W	434;589	ENSP00000325494:R434W;ENSP00000371398:R589W	ENSP00000325494:R434W	R	-	1	2	GLIS3	3927135	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.558000	0.23469	1.469000	0.48083	0.591000	0.81541	CGG		0.498	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		4	109	0	0	0	1	0	4	109				
RHAG	6005	broad.mit.edu	37	6	49583444	49583444	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr6:49583444C>T	ENST00000371175.4	-	4	559	c.533G>A	c.(532-534)gGg>gAg	p.G178E	RHAG_ENST00000229810.7_Missense_Mutation_p.G178E	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	178					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					AAAGTAGGCCCCAAAGGCATG	0.468																																					Ovarian(176;476 2003 7720 43408 44749)	ENST00000371175.4																			0				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39						c.(532-534)gGg>gAg		Rh-associated glycoprotein							119.0	112.0	114.0					6																	49583444		2203	4300	6503	SO:0001583	missense	6005				carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr6:49583444C>T		CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	10006	protein-coding gene	gene with protein product		180297	"""Rhesus blood group-associated glycoprotein"""			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.533G>A	6.37:g.49583444C>T	ENSP00000360217:p.Gly178Glu					RHAG_ENST00000229810.7_Missense_Mutation_p.G178E	p.G178E	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN			4	559	-	Lung NSC(77;0.0255)		178					B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Missense_Mutation	SNP	ENST00000371175.4	37	c.533G>A	CCDS4927.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.019539	0.93462	.	.	ENSG00000112077	ENST00000371175;ENST00000229810;ENST00000418071;ENST00000539403	T;T	0.37915	1.17;1.17	5.76	5.76	0.90799	Ammonium transporter AmtB-like (3);	0.000000	0.85682	D	0.000000	T	0.70254	0.3203	H	0.96142	3.775	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.79950	-0.1587	10	0.87932	D	0	-15.0369	18.9695	0.92709	0.0:1.0:0.0:0.0	.	178;178;178	O43515;Q9UHG9;Q02094	.;.;RHAG_HUMAN	E	178	ENSP00000360217:G178E;ENSP00000229810:G178E	ENSP00000229810:G178E	G	-	2	0	RHAG	49691403	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.437000	0.80417	2.726000	0.93360	0.655000	0.94253	GGG		0.468	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043806.1			5	69	0	0	0	1	0	5	69				
RPS2	6187	broad.mit.edu	37	16	2012755	2012755	+	Silent	SNP	G	G	A	rs200947241		TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr16:2012755G>A	ENST00000343262.4	-	5	587	c.531C>T	c.(529-531)ccC>ccT	p.P177P	RPS2_ENST00000526522.1_Intron|SNORA10_ENST00000384084.1_RNA|RPS2_ENST00000529806.1_Silent_p.P147P|SNORA64_ENST00000384674.1_RNA|SNHG9_ENST00000459373.1_lincRNA|RPS2_ENST00000530225.1_Silent_p.P177P	NM_002952.3	NP_002943.2	P15880	RS2_HUMAN	ribosomal protein S2	177					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of transferase activity (GO:0051347)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GGACAGTGTGGGGCTTGCCGA	0.672													G|||	1	0.000199681	0.0	0.0	5008	,	,		17624	0.001		0.0	False		,,,				2504	0.0					ENST00000529806.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						c.(439-441)ccC>ccT		ribosomal protein S2							18.0	18.0	18.0					16																	2012755		2196	4296	6492	SO:0001819	synonymous_variant	6187				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome	g.chr16:2012755G>A	AB007147	CCDS10452.1	16p13.3	2011-04-05			ENSG00000140988	ENSG00000140988		"""S ribosomal proteins"""	10404	protein-coding gene	gene with protein product		603624				9582194	Standard	NM_002952		Approved	LLREP3, S2	uc002cno.2	P15880	OTTHUMG00000128708	ENST00000343262.4:c.531C>T	16.37:g.2012755G>A						RPS2_ENST00000343262.4_Silent_p.P177P|RPS2_ENST00000526522.1_Intron|RPS2_ENST00000530225.1_Silent_p.P177P	p.P147P			P15880	RS2_HUMAN			3	627	-			177			S5 DRBM.		B2R5G0|D3DU82|Q3MIB1	Silent	SNP	ENST00000343262.4	37	c.441C>T	CCDS10452.1																																																																																				0.672	RPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250613.2	NM_002952		8	12	0	0	0	1	0	8	12				
CPA2	1358	broad.mit.edu	37	7	129906767	129906767	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr7:129906767A>G	ENST00000222481.4	+	1	101	c.46A>G	c.(46-48)Atc>Gtc	p.I16V		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	16					protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					TTTTGGGCATATCTACTGTCT	0.403																																						ENST00000222481.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(46-48)Atc>Gtc		carboxypeptidase A2 (pancreatic)							251.0	226.0	234.0					7																	129906767		2203	4300	6503	SO:0001583	missense	1358				proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129906767A>G	U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.46A>G	7.37:g.129906767A>G	ENSP00000222481:p.Ile16Val						p.I16V	NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN			1	101	+	Melanoma(18;0.0435)		16					A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Missense_Mutation	SNP	ENST00000222481.4	37	c.46A>G	CCDS5817.2	.	.	.	.	.	.	.	.	.	.	A	4.418	0.077225	0.08485	.	.	ENSG00000158516	ENST00000222481	T	0.09255	3.0	6.01	4.86	0.63082	.	0.280452	0.36444	N	0.002599	T	0.03520	0.0101	N	0.02181	-0.65	0.20563	N	0.999882	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.43360	-0.9396	10	0.12103	T	0.63	.	7.5892	0.28010	0.8368:0.0:0.1632:0.0	.	14;16	B4DDX9;P48052	.;CBPA2_HUMAN	V	16	ENSP00000222481:I16V	ENSP00000222481:I16V	I	+	1	0	CPA2	129694003	0.742000	0.28228	0.845000	0.33349	0.809000	0.45718	0.547000	0.23299	1.113000	0.41760	0.456000	0.33151	ATC		0.403	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347124.2	NM_001869		20	160	0	0	0	1	0	20	160				
CCBE1	147372	broad.mit.edu	37	18	57136753	57136753	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr18:57136753G>A	ENST00000439986.4	-	4	389	c.352C>T	c.(352-354)Cga>Tga	p.R118*	CCBE1_ENST00000398179.2_5'UTR	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	118					lymphangiogenesis (GO:0001946)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of protein processing (GO:0010954)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|positive regulation vascular endothelial growth factor production (GO:0010575)|sprouting angiogenesis (GO:0002040)|venous blood vessel morphogenesis (GO:0048845)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|protease binding (GO:0002020)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CGGTCATATCGGTATCCCGGA	0.517																																					NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)	ENST00000439986.4																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24						c.(352-354)Cga>Tga		collagen and calcium binding EGF domains 1							206.0	175.0	185.0					18																	57136753		2203	4300	6503	SO:0001587	stop_gained	147372				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding	g.chr18:57136753G>A	AB075863	CCDS32838.1	18q21.32	2005-01-18				ENSG00000183287			29426	protein-coding gene	gene with protein product		612753				11853319, 12975309	Standard	NM_133459		Approved	FLJ30681, KIAA1983	uc002lib.3	Q6UXH8		ENST00000439986.4:c.352C>T	18.37:g.57136753G>A	ENSP00000404464:p.Arg118*					CCBE1_ENST00000398179.2_5'UTR	p.R118*	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN			4	389	-		Colorectal(73;0.175)	118					Q6MZX5|Q86SS2|Q8TF19	Nonsense_Mutation	SNP	ENST00000439986.4	37	c.352C>T	CCDS32838.1	.	.	.	.	.	.	.	.	.	.	G	35	5.460084	0.96240	.	.	ENSG00000183287	ENST00000439986	.	.	.	5.7	3.87	0.44632	.	0.133104	0.51477	D	0.000096	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.5878	8.3429	0.32254	0.0794:0.0:0.7668:0.1538	.	.	.	.	X	118	.	ENSP00000404464:R118X	R	-	1	2	CCBE1	55287733	1.000000	0.71417	0.789000	0.31954	0.593000	0.36681	5.324000	0.65863	0.716000	0.32124	0.650000	0.86243	CGA		0.517	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449685.2	NM_133459		54	92	0	0	0	1	0	54	92				
TP53	7157	broad.mit.edu	37	17	7578395	7578395	+	Missense_Mutation	SNP	G	G	C	rs587780070		TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr17:7578395G>C	ENST00000269305.4	-	5	724	c.535C>G	c.(535-537)Cat>Gat	p.H179D	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Missense_Mutation_p.H179D|TP53_ENST00000455263.2_Missense_Mutation_p.H179D|TP53_ENST00000445888.2_Missense_Mutation_p.H179D|TP53_ENST00000413465.2_Missense_Mutation_p.H179D|TP53_ENST00000359597.4_Missense_Mutation_p.H179D	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	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(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)	CAGCGCTCATGGTGGGGGCAG	0.642		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		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"""		197	Substitution - Missense(143)|Deletion - In frame(25)|Deletion - Frameshift(19)|Whole gene deletion(8)|Complex - deletion inframe(1)|Complex - compound substitution(1)	p.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(1)	skin(28)|upper_aerodigestive_tract(27)|large_intestine(27)|lung(27)|breast(18)|haematopoietic_and_lymphoid_tissue(11)|oesophagus(11)|central_nervous_system(8)|ovary(8)|stomach(7)|liver(7)|bone(5)|urinary_tract(3)|soft_tissue(2)|pancreas(2)|cervix(1)|vulva(1)|eye(1)|kidney(1)|endometrium(1)|prostate(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	CM067054	TP53	M		c.(535-537)Cat>Gat	Other conserved DNA damage response genes	tumor protein p53							47.0	47.0	47.0					17																	7578395		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.chr17:7578395G>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.535C>G	17.37:g.7578395G>C	ENSP00000269305:p.His179Asp	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_ENST00000269305.4_Missense_Mutation_p.H179D|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.H179D|TP53_ENST00000359597.4_Missense_Mutation_p.H179D|TP53_ENST00000413465.2_Missense_Mutation_p.H179D|TP53_ENST00000455263.2_Missense_Mutation_p.H179D	p.H179D	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)	5	667	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	179		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.535C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013188	0.93346	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99907	-7.78;-7.78;-7.78;-7.78;-7.78;-7.78;-7.78;-7.78	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99904	0.9954	M	0.83118	2.625	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.97;1.0;0.993;1.0;0.994;1.0;0.998	D;D;D;D;D;D;D	0.97110	0.955;0.998;0.972;1.0;0.991;0.998;0.98	D	0.96140	0.9099	10	0.87932	D	0	-15.4889	17.4784	0.87667	0.0:0.0:1.0:0.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	D	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179D;ENSP00000352610:H179D;ENSP00000269305:H179D;ENSP00000398846:H179D;ENSP00000391127:H179D;ENSP00000391478:H179D;ENSP00000425104:H47D;ENSP00000423862:H86D	ENSP00000269305:H179D	H	-	1	0	TP53	7519120	1.000000	0.71417	0.990000	0.47175	0.864000	0.49448	9.813000	0.99286	2.804000	0.96469	0.655000	0.94253	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		29	45	0	0	0	1	0	29	45				
NLRP6	171389	broad.mit.edu	37	11	284541	284541	+	Silent	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr11:284541C>T	ENST00000312165.5	+	7	2439	c.2439C>T	c.(2437-2439)gcC>gcT	p.A813A	RP11-326C3.2_ENST00000533924.1_RNA|NLRP6_ENST00000534750.1_Silent_p.A812A	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	813					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGAGCCCTGCCCTGACCACCC	0.672																																						ENST00000534750.1																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(2434-2436)gcC>gcT		NLR family, pyrin domain containing 6							32.0	31.0	31.0					11																	284541		2203	4300	6503	SO:0001819	synonymous_variant	171389					cytoplasm	ATP binding	g.chr11:284541C>T	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.2439C>T	11.37:g.284541C>T						NLRP6_ENST00000312165.5_Silent_p.A813A	p.A812A	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	7	2641	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	813					A8K9F3|E9PJZ8	Silent	SNP	ENST00000312165.5	37	c.2436C>T	CCDS7693.1																																																																																				0.672	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		5	18	0	0	0	1	0	5	18				
GAR1	54433	broad.mit.edu	37	4	110739221	110739221	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr4:110739221A>C	ENST00000226796.6	+	3	608	c.344A>C	c.(343-345)gAa>gCa	p.E115A	RP11-602N24.3_ENST00000609440.1_lincRNA|GAR1_ENST00000394631.3_Missense_Mutation_p.E115A	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN	GAR1 ribonucleoprotein	115					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|pseudouridine synthesis (GO:0001522)|rRNA processing (GO:0006364)	box H/ACA snoRNP complex (GO:0031429)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cation channel activity (GO:0005261)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						AAAGTGGATGAAATATTTGGA	0.333																																						ENST00000226796.6																			0				kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						c.(343-345)gAa>gCa		GAR1 ribonucleoprotein							78.0	81.0	80.0					4																	110739221		2203	4300	6503	SO:0001583	missense	54433				rRNA processing|snRNA pseudouridine synthesis	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding	g.chr4:110739221A>C	AJ276003	CCDS34050.1	4q	2013-07-31	2013-07-31	2008-10-13	ENSG00000109534	ENSG00000109534			14264	protein-coding gene	gene with protein product		606468	"""nucleolar protein family A, member 1 (H/ACA small nucleolar RNPs)"", ""GAR1 ribonucleoprotein homolog (yeast)"""	NOLA1		10757788	Standard	XM_005263069		Approved		uc003hzu.3	Q9NY12	OTTHUMG00000161108	ENST00000226796.6:c.344A>C	4.37:g.110739221A>C	ENSP00000226796:p.Glu115Ala					GAR1_ENST00000394631.3_Missense_Mutation_p.E115A	p.E115A	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN			3	608	+			115					Q5MJQ2	Missense_Mutation	SNP	ENST00000226796.6	37	c.344A>C	CCDS34050.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.420261	0.83559	.	.	ENSG00000109534	ENST00000394631;ENST00000226796	.	.	.	4.78	4.78	0.61160	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	D	0.84906	0.5576	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.988;0.997	D	0.88668	0.3193	9	0.87932	D	0	.	14.6205	0.68582	1.0:0.0:0.0:0.0	.	115;115	Q9NY12-2;Q9NY12	.;GAR1_HUMAN	A	115	.	ENSP00000226796:E115A	E	+	2	0	GAR1	110958670	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.855000	0.92236	1.913000	0.55393	0.533000	0.62120	GAA		0.333	GAR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363810.2			31	51	0	0	0	1	0	31	51				
PASD1	139135	broad.mit.edu	37	X	150790022	150790022	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chrX:150790022G>A	ENST00000370357.4	+	6	621	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	126						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTGCTTACGAAAACGTGAA	0.303																																						ENST00000370357.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(376-378)Gaa>Aaa		PAS domain containing 1							156.0	126.0	136.0					X																	150790022		2203	4299	6502	SO:0001583	missense	139135					nucleus	signal transducer activity	g.chrX:150790022G>A	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.376G>A	X.37:g.150790022G>A	ENSP00000359382:p.Glu126Lys						p.E126K	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			6	621	+	Acute lymphoblastic leukemia(192;6.56e-05)		126					Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	c.376G>A	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	G	9.979	1.227486	0.22542	.	.	ENSG00000166049	ENST00000370357	T	0.70045	-0.45	5.25	4.38	0.52667	.	.	.	.	.	T	0.76564	0.4005	M	0.62723	1.935	0.09310	N	1	D	0.76494	0.999	D	0.67725	0.953	T	0.65768	-0.6088	9	0.87932	D	0	-29.0814	8.8561	0.35229	0.106:0.0:0.894:0.0	.	126	Q8IV76	PASD1_HUMAN	K	126	ENSP00000359382:E126K	ENSP00000359382:E126K	E	+	1	0	PASD1	150540678	1.000000	0.71417	0.019000	0.16419	0.017000	0.09413	4.402000	0.59722	0.990000	0.38787	0.600000	0.82982	GAA		0.303	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		15	32	0	0	0	1	0	15	32				
OR51F2	119694	broad.mit.edu	37	11	4843026	4843026	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr11:4843026T>G	ENST00000322110.5	+	1	476	c.411T>G	c.(409-411)ttT>ttG	p.F137L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGATCGTTTTGTGGCCATCT	0.453																																						ENST00000322110.5																			0				breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33						c.(409-411)ttT>ttG		olfactory receptor, family 51, subfamily F, member 2							237.0	203.0	215.0					11																	4843026		2201	4298	6499	SO:0001583	missense	119694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4843026T>G	BK004281	CCDS31361.1	11p15.4	2012-08-09			ENSG00000176925	ENSG00000176925		"""GPCR / Class A : Olfactory receptors"""	15197	protein-coding gene	gene with protein product							Standard	NM_001004753		Approved		uc010qyn.2	Q8NH61	OTTHUMG00000066508	ENST00000322110.5:c.411T>G	11.37:g.4843026T>G	ENSP00000323952:p.Phe137Leu					MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.F137L	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	476	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	137					Q6IFI1	Missense_Mutation	SNP	ENST00000322110.5	37	c.411T>G	CCDS31361.1	.	.	.	.	.	.	.	.	.	.	T	17.20	3.330167	0.60743	.	.	ENSG00000176925	ENST00000322110	T	0.38401	1.14	4.43	4.43	0.53597	GPCR, rhodopsin-like superfamily (1);	0.183522	0.26279	U	0.025299	T	0.36963	0.0986	M	0.72576	2.205	0.27388	N	0.95522	P	0.51791	0.948	B	0.42422	0.387	T	0.47509	-0.9112	10	0.72032	D	0.01	.	8.3598	0.32353	0.0:0.0948:0.0:0.9052	.	137	Q8NH61	O51F2_HUMAN	L	137	ENSP00000323952:F137L	ENSP00000323952:F137L	F	+	3	2	OR51F2	4799602	0.147000	0.22687	1.000000	0.80357	0.896000	0.52359	0.831000	0.27476	1.991000	0.58162	0.459000	0.35465	TTT		0.453	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142181.1	NM_001004753		63	124	0	0	0	1	0	63	124				
MGA	23269	broad.mit.edu	37	15	41961363	41961363	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr15:41961363C>T	ENST00000570161.1	+	1	271	c.271C>T	c.(271-273)Cga>Tga	p.R91*	MGA_ENST00000545763.1_Nonsense_Mutation_p.R91*|MGA_ENST00000566586.1_Nonsense_Mutation_p.R91*|MGA_ENST00000219905.7_Nonsense_Mutation_p.R91*|MGA_ENST00000568630.1_Intron|MGA_ENST00000389936.4_Nonsense_Mutation_p.R91*			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	P-type 1. {ECO:0000255|PROSITE- ProRule:PRU00779}.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTTCTATCATCGAAGCACAGA	0.383																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(271-273)Cga>Tga		MGA, MAX dimerization protein							129.0	126.0	127.0					15																	41961363		1913	4132	6045	SO:0001587	stop_gained	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:41961363C>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.271C>T	15.37:g.41961363C>T	ENSP00000457035:p.Arg91*					MGA_ENST00000566586.1_Nonsense_Mutation_p.R91*|MGA_ENST00000545763.1_Nonsense_Mutation_p.R91*|MGA_ENST00000570161.1_Nonsense_Mutation_p.R91*|MGA_ENST00000568630.1_Intron|MGA_ENST00000389936.4_Nonsense_Mutation_p.R91*	p.R91*	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	2	452	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	91					Q0VAX6|Q75ME7|Q86UM5	Nonsense_Mutation	SNP	ENST00000570161.1	37	c.271C>T	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	36	5.836348	0.97009	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	.	.	.	5.51	2.45	0.29901	.	0.162603	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.5027	0.33168	0.3992:0.5333:0.0:0.0675	.	.	.	.	X	91	.	ENSP00000219905:R91X	R	+	1	2	MGA	39748655	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.487000	0.45268	0.319000	0.23209	0.650000	0.86243	CGA		0.383	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		5	88	0	0	0	1	0	5	88				
PLPPR4	9890	broad.mit.edu	37	1	99753613	99753613	+	Silent	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr1:99753613C>T	ENST00000370185.3	+	2	812	c.315C>T	c.(313-315)gaC>gaT	p.D105D	LPPR4_ENST00000457765.1_Silent_p.D105D	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		105					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GCTGCTATGACCGGAGTCTTA	0.458																																						ENST00000370185.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72						c.(313-315)gaC>gaT									181.0	161.0	168.0					1																	99753613		2203	4300	6503	SO:0001819	synonymous_variant	0						phosphatidate phosphatase activity	g.chr1:99753613C>T																												ENST00000370185.3:c.315C>T	1.37:g.99753613C>T						LPPR4_ENST00000457765.1_Silent_p.D105D	p.D105D	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	2	812	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	105					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Silent	SNP	ENST00000370185.3	37	c.315C>T	CCDS757.1																																																																																				0.458	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			4	137	0	0	0	1	0	4	137				
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	lincRNA	SNP	G	G	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1				long intergenic non-protein coding RNA 264																		ACCAAGCCCAGTGGACAGATG	0.443																																						ENST00000412114.1																			0																																																			0							g.chr10:26880266G>A			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880266G>A								NR_026793.1						0	501	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.443	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		3	35	0	0	0	1	0	3	35				
TMEM214	54867	broad.mit.edu	37	2	27256953	27256953	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr2:27256953G>A	ENST00000238788.9	+	2	232	c.170G>A	c.(169-171)aGc>aAc	p.S57N	TMEM214_ENST00000404032.3_Missense_Mutation_p.S57N	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	57					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CAGACCACAAGCACCCTTTAT	0.542																																						ENST00000238788.9																			0				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(169-171)aGc>aAc		transmembrane protein 214							101.0	104.0	103.0					2																	27256953		1952	4147	6099	SO:0001583	missense	54867					integral to membrane	protein binding	g.chr2:27256953G>A		CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.170G>A	2.37:g.27256953G>A	ENSP00000238788:p.Ser57Asn					TMEM214_ENST00000404032.3_Missense_Mutation_p.S57N	p.S57N	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN			2	232	+			57					A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Missense_Mutation	SNP	ENST00000238788.9	37	c.170G>A	CCDS42664.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.048516	0.36181	.	.	ENSG00000119777	ENST00000238788;ENST00000535207;ENST00000404032	D;D	0.86497	-2.13;-2.13	5.07	4.18	0.49190	.	0.272259	0.39475	N	0.001360	T	0.77363	0.4119	L	0.38531	1.155	0.27467	N	0.952975	B;B	0.20052	0.041;0.024	B;B	0.16722	0.016;0.007	T	0.61267	-0.7097	10	0.18276	T	0.48	-6.9346	5.9373	0.19173	0.1309:0.1853:0.6838:0.0	.	57;57	Q6NUQ4-2;Q6NUQ4	.;TM214_HUMAN	N	57	ENSP00000238788:S57N;ENSP00000384417:S57N	ENSP00000238788:S57N	S	+	2	0	TMEM214	27110457	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.847000	0.48270	1.105000	0.41606	0.462000	0.41574	AGC		0.542	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	NM_017727		8	116	0	0	0	1	0	8	116				
SYNE1	23345	broad.mit.edu	37	6	152706891	152706891	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr6:152706891T>C	ENST00000367255.5	-	55	9171	c.8570A>G	c.(8569-8571)cAt>cGt	p.H2857R	SYNE1_ENST00000423061.1_Missense_Mutation_p.H2864R|SYNE1_ENST00000341594.5_Missense_Mutation_p.H2896R|SYNE1_ENST00000265368.4_Missense_Mutation_p.H2857R|SYNE1_ENST00000448038.1_Missense_Mutation_p.H2864R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2857					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTTGCTGAATGGAGCCAATC	0.388										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(8569-8571)cAt>cGt		spectrin repeat containing, nuclear envelope 1							185.0	176.0	179.0					6																	152706891		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152706891T>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.8570A>G	6.37:g.152706891T>C	ENSP00000356224:p.His2857Arg	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.H2864R|SYNE1_ENST00000423061.1_Missense_Mutation_p.H2864R|SYNE1_ENST00000341594.5_Missense_Mutation_p.H2896R|SYNE1_ENST00000265368.4_Missense_Mutation_p.H2857R	p.H2857R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	55	9171	-		Ovarian(120;0.0955)	2857					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.8570A>G	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	14.94	2.684255	0.47991	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.50277	0.84;0.87;0.75;0.86;0.95	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000005	T	0.41236	0.1150	M	0.68317	2.08	0.80722	D	1	D;D;D;D	0.59357	0.985;0.964;0.964;0.979	P;P;P;P	0.49637	0.527;0.532;0.532;0.617	T	0.37267	-0.9713	10	0.13470	T	0.59	.	15.8829	0.79216	0.0:0.0:0.0:1.0	.	2840;2857;2857;2864	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	R	2857;2864;2857;2864;2896	ENSP00000356224:H2857R;ENSP00000396024:H2864R;ENSP00000265368:H2857R;ENSP00000390975:H2864R;ENSP00000341887:H2896R	ENSP00000265368:H2857R	H	-	2	0	SYNE1	152748584	1.000000	0.71417	0.985000	0.45067	0.875000	0.50365	3.863000	0.56016	2.155000	0.67459	0.482000	0.46254	CAT		0.388	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		34	113	0	0	0	1	0	34	113				
BCRP7	100133163	broad.mit.edu	37	22	18844766	18844766	+	3'UTR	SNP	G	G	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr22:18844766G>A	ENST00000412938.1	+	0	3016																											CAGCCTCTGAGGGCAGCAGTG	0.557																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844766G>A																												ENST00000412938.1:c.*3013G>A	22.37:g.18844766G>A														0	3016	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.557	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			6	14	0	0	0	1	0	6	14				
NOL12	79159	broad.mit.edu	37	22	38084873	38084873	+	Silent	SNP	G	G	C			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr22:38084873G>C	ENST00000359114.4	+	4	325	c.255G>C	c.(253-255)ctG>ctC	p.L85L	NOL12_ENST00000493862.1_3'UTR	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	85						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8	Melanoma(58;0.0574)					CAGATGAGCTGGACCGGTTGG	0.637																																						ENST00000359114.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8						c.(253-255)ctG>ctC		nucleolar protein 12							161.0	131.0	141.0					22																	38084873		2203	4300	6503	SO:0001819	synonymous_variant	79159					nucleolus	rRNA binding	g.chr22:38084873G>C	Z83844	CCDS13955.1	22q13.1	2012-05-02			ENSG00000256872	ENSG00000273899			28585	protein-coding gene	gene with protein product						12477932	Standard	NM_024313		Approved	MGC3731, Nop25, RRP17	uc003atp.3	Q9UGY1	OTTHUMG00000150660	ENST00000359114.4:c.255G>C	22.37:g.38084873G>C						NOL12_ENST00000493862.1_3'UTR|RP1-37E16.12_ENST00000455236.1_RNA	p.L85L	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN			4	325	+	Melanoma(58;0.0574)		85						Silent	SNP	ENST00000359114.4	37	c.255G>C	CCDS13955.1																																																																																				0.637	NOL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319476.1	NM_024313		4	95	0	0	0	1	0	4	95				
LBR	3930	broad.mit.edu	37	1	225591028	225591028	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr1:225591028G>A	ENST00000338179.2	-	14	1950	c.1825C>T	c.(1825-1827)Cgt>Tgt	p.R609C	LBR_ENST00000272163.4_Missense_Mutation_p.R609C	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	609					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|lamin binding (GO:0005521)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		GGAAATATACGGTAGGGCACA	0.438																																						ENST00000338179.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						c.(1825-1827)Cgt>Tgt		lamin B receptor							112.0	106.0	108.0					1																	225591028		2203	4300	6503	SO:0001583	missense	3930				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity	g.chr1:225591028G>A	L25931	CCDS1545.1	1q42.1	2013-01-23			ENSG00000143815	ENSG00000143815		"""Tudor domain containing"""	6518	protein-coding gene	gene with protein product	"""tudor domain containing 18"""	600024				8157663, 9878250	Standard	NM_194442		Approved	DHCR14B, TDRD18	uc001hoy.3	Q14739	OTTHUMG00000037520	ENST00000338179.2:c.1825C>T	1.37:g.225591028G>A	ENSP00000339883:p.Arg609Cys					LBR_ENST00000272163.4_Missense_Mutation_p.R609C	p.R609C	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN		GBM - Glioblastoma multiforme(131;0.117)	14	1950	-	Breast(184;0.165)		609					B2R5P3|Q14740|Q53GU7|Q59FE6	Missense_Mutation	SNP	ENST00000338179.2	37	c.1825C>T	CCDS1545.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402078	0.83120	.	.	ENSG00000143815	ENST00000272163;ENST00000338179	D;D	0.98135	-4.74;-4.74	6.17	5.26	0.73747	.	0.046720	0.85682	D	0.000000	D	0.99174	0.9714	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.98891	1.0773	10	0.72032	D	0.01	-21.5139	15.5098	0.75772	0.0658:0.0:0.9342:0.0	.	609	Q14739	LBR_HUMAN	C	609	ENSP00000272163:R609C;ENSP00000339883:R609C	ENSP00000272163:R609C	R	-	1	0	LBR	223657651	1.000000	0.71417	0.996000	0.52242	0.873000	0.50193	4.346000	0.59367	1.621000	0.50320	0.655000	0.94253	CGT		0.438	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091398.1	NM_002296		23	61	0	0	0	1	0	23	61				
IGLV2-28	28812	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T	rs200228350	byFrequency	TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627																																						ENST00000385099.1																			0																																																			0							g.chr22:23006961C>T																													22.37:g.23006961C>T														0	64	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				3	8	0	0	0	1	0	3	8				
ALG12	79087	broad.mit.edu	37	22	50297602	50297602	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr22:50297602G>T	ENST00000330817.6	-	10	1624	c.1351C>A	c.(1351-1353)Ctg>Atg	p.L451M	CITF22-1A6.3_ENST00000610245.1_lincRNA	NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	451					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosyltransferase activity (GO:0000009)|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity (GO:0052917)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		ACGCTGGCCAGGACCCGGTGT	0.637																																						ENST00000330817.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12						c.(1351-1353)Ctg>Atg		ALG12, alpha-1,6-mannosyltransferase							67.0	70.0	69.0					22																	50297602		2203	4300	6503	SO:0001583	missense	79087				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane		g.chr22:50297602G>T	AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19358	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase"", ""dol-P-Man dependent alpha-1,6-mannosyltransferase"""	607144	"""asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)"", ""asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"""			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.1351C>A	22.37:g.50297602G>T	ENSP00000333813:p.Leu451Met						p.L451M	NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)	10	1624	-		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	451					A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Missense_Mutation	SNP	ENST00000330817.6	37	c.1351C>A	CCDS14081.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.86|14.86	2.661737|2.661737	0.47572|0.47572	.|.	.|.	ENSG00000182858|ENSG00000182858	ENST00000330817|ENST00000332276	D|.	0.81996|.	-1.56|.	5.31|5.31	4.29|4.29	0.51040|0.51040	.|.	0.082191|.	0.51477|.	D|.	0.000099|.	T|T	0.67998|0.67998	0.2953|0.2953	M|M	0.73962|0.73962	2.25|2.25	0.40555|0.40555	D|D	0.981158|0.981158	D|.	0.61080|.	0.989|.	P|.	0.56700|.	0.804|.	T|T	0.71909|0.71909	-0.4450|-0.4450	10|6	0.56958|0.87932	D|D	0.05|0	-14.8666|-14.8666	9.859|9.859	0.41103|0.41103	0.1586:0.0:0.8414:0.0|0.1586:0.0:0.8414:0.0	.|.	451|.	Q9BV10|.	ALG12_HUMAN|.	M|H	451|96	ENSP00000333813:L451M|.	ENSP00000333813:L451M|ENSP00000329560:P96H	L|P	-|-	1|2	2|0	ALG12|ALG12	48683606|48683606	1.000000|1.000000	0.71417|0.71417	0.963000|0.963000	0.40424|0.40424	0.157000|0.157000	0.22087|0.22087	3.612000|3.612000	0.54142|0.54142	1.235000|1.235000	0.43724|0.43724	0.655000|0.655000	0.94253|0.94253	CTG|CCT		0.637	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317405.2	NM_024105		3	38	1	0	0.115264	1	0.115264	3	38				
UNC45B	146862	broad.mit.edu	37	17	33498419	33498419	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr17:33498419A>G	ENST00000268876.5	+	13	1871	c.1774A>G	c.(1774-1776)Atc>Gtc	p.I592V	UNC45B_ENST00000591048.1_Missense_Mutation_p.I511V|UNC45B_ENST00000394570.2_Missense_Mutation_p.I590V|UNC45B_ENST00000433649.1_Missense_Mutation_p.I590V|UNC45B_ENST00000378449.1_Missense_Mutation_p.I511V	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	592					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CAAGGAGGTCATCCCAGAGCT	0.607											OREG0024327	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000268876.5																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59						c.(1774-1776)Atc>Gtc		unc-45 homolog B (C. elegans)							154.0	126.0	136.0					17																	33498419		2203	4300	6503	SO:0001583	missense	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33498419A>G	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1774A>G	17.37:g.33498419A>G	ENSP00000268876:p.Ile592Val		OREG0024327	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	840	UNC45B_ENST00000591048.1_Missense_Mutation_p.I511V|UNC45B_ENST00000433649.1_Missense_Mutation_p.I590V|UNC45B_ENST00000394570.2_Missense_Mutation_p.I590V|UNC45B_ENST00000378449.1_Missense_Mutation_p.I511V	p.I592V	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN			13	1871	+		Ovarian(249;0.17)	592					Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	c.1774A>G	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	A	6.389	0.439934	0.12104	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T	0.47177	3.63;1.55;0.85	5.87	2.49	0.30216	Armadillo-type fold (1);	0.151125	0.56097	N	0.000025	T	0.26231	0.0640	L	0.27053	0.805	0.32213	N	0.576251	B;B;B	0.09022	0.001;0.002;0.0	B;B;B	0.08055	0.002;0.003;0.001	T	0.32929	-0.9888	10	0.05436	T	0.98	-21.1093	7.7802	0.29060	0.677:0.0:0.323:0.0	.	511;590;592	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	V	592;592;590;511	ENSP00000268876:I592V;ENSP00000412840:I590V;ENSP00000367710:I511V	ENSP00000268876:I592V	I	+	1	0	UNC45B	30522532	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	0.998000	0.29744	0.581000	0.29539	0.533000	0.62120	ATC		0.607	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		32	63	0	0	0	1	0	32	63				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			27	57	0	0	0	1	0	27	57				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						ENST00000435989.2																			10	Substitution - Missense(10)	p.D404E(10)	urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1210-1212)gaC>gaA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron	p.D404E	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1446	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		4	8	1	0	0.00024832	1	0.000260335	4	8				
TWSG1	57045	broad.mit.edu	37	18	9359985	9359985	+	Missense_Mutation	SNP	C	C	T	rs200630425		TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr18:9359985C>T	ENST00000262120.5	+	3	330	c.139C>T	c.(139-141)Cgg>Tgg	p.R47W	TWSG1_ENST00000581641.1_Missense_Mutation_p.R47W	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1	47	Cys-rich.				BMP signaling pathway (GO:0030509)|camera-type eye development (GO:0043010)|cell differentiation (GO:0030154)|forebrain development (GO:0030900)|hemopoiesis (GO:0030097)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of osteoblast differentiation (GO:0045668)|ossification (GO:0001503)|positive regulation of BMP signaling pathway (GO:0030513)|salivary gland morphogenesis (GO:0007435)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						CTGCCAGTGCCGGCCGGGAGA	0.448																																						ENST00000262120.5																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						c.(139-141)Cgg>Tgg		twisted gastrulation BMP signaling modulator 1							92.0	89.0	90.0					18																	9359985		2203	4300	6503	SO:0001583	missense	57045							g.chr18:9359985C>T	AA486291	CCDS11844.1	18p11.3	2013-10-03	2013-10-03		ENSG00000128791	ENSG00000128791			12429	protein-coding gene	gene with protein product		605049	"""twisted gastrulation homolog 1 (Drosophila)"""			11260715	Standard	NM_020648		Approved	TSG	uc002knz.3	Q9GZX9	OTTHUMG00000131597	ENST00000262120.5:c.139C>T	18.37:g.9359985C>T	ENSP00000262120:p.Arg47Trp					TWSG1_ENST00000581641.1_Missense_Mutation_p.R47W	p.R47W	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN			3	330	+			47			Cys-rich.		B2RE08|D3DUH9|Q8NBI7|Q96K46	Missense_Mutation	SNP	ENST00000262120.5	37	c.139C>T	CCDS11844.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.346229	0.82022	.	.	ENSG00000128791	ENST00000262120	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.73737	0.3625	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	P	0.61874	0.895	T	0.74719	-0.3570	9	0.87932	D	0	-27.3611	17.952	0.89056	0.0:1.0:0.0:0.0	.	47	Q9GZX9	TWSG1_HUMAN	W	47	.	ENSP00000262120:R47W	R	+	1	2	TWSG1	9349985	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	3.334000	0.52097	2.836000	0.97738	0.650000	0.86243	CGG		0.448	TWSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254480.2			4	39	0	0	0	1	0	4	39				
PIM2	11040	broad.mit.edu	37	X	48772458	48772458	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chrX:48772458C>G	ENST00000376509.4	-	4	623	c.434G>C	c.(433-435)gGc>gCc	p.G145A	PIM2_ENST00000485431.1_5'Flank	NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	Pim-2 proto-oncogene, serine/threonine kinase	145	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic mitochondrial changes (GO:0008637)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|response to virus (GO:0009615)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			lung(3)|stomach(1)	4						CACTACTTGGCCAAAGAAGCA	0.572																																						ENST00000376509.4																			0				lung(3)|stomach(1)	4						c.(433-435)gGc>gCc		pim-2 oncogene							57.0	49.0	52.0					X																	48772458		2203	4300	6503	SO:0001583	missense	11040				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity	g.chrX:48772458C>G	U77735	CCDS14312.1	Xp11.23	2014-06-25	2014-06-25		ENSG00000102096	ENSG00000102096			8987	protein-coding gene	gene with protein product		300295	"""pim-2 oncogene"""			9804974	Standard	NM_006875		Approved		uc004dls.3	Q9P1W9	OTTHUMG00000024132	ENST00000376509.4:c.434G>C	X.37:g.48772458C>G	ENSP00000365692:p.Gly145Ala						p.G145A	NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN			4	623	-			145			Protein kinase.		A8K4G6|Q99739	Missense_Mutation	SNP	ENST00000376509.4	37	c.434G>C	CCDS14312.1	.	.	.	.	.	.	.	.	.	.	C	0.638	-0.814550	0.02776	.	.	ENSG00000102096	ENST00000376509;ENST00000442430	T;T	0.63913	-0.07;-0.07	5.88	1.93	0.25924	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.984864	0.08298	N	0.967429	T	0.40398	0.1115	N	0.04260	-0.245	0.23787	N	0.996842	B	0.02656	0.0	B	0.01281	0.0	T	0.18398	-1.0338	10	0.21540	T	0.41	.	12.9182	0.58216	0.0873:0.7078:0.2049:0.0	.	145	Q9P1W9	PIM2_HUMAN	A	145;33	ENSP00000365692:G145A;ENSP00000410960:G33A	ENSP00000365692:G145A	G	-	2	0	PIM2	48657402	0.012000	0.17670	0.962000	0.40283	0.801000	0.45260	0.144000	0.16135	0.221000	0.20879	0.600000	0.82982	GGC		0.572	PIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060805.1			18	48	0	0	0	1	0	18	48				
NONO	4841	broad.mit.edu	37	X	70514290	70514290	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chrX:70514290T>C	ENST00000276079.8	+	5	767	c.562T>C	c.(562-564)Tca>Cca	p.S188P	NONO_ENST00000373841.1_Missense_Mutation_p.S188P|NONO_ENST00000535149.1_Missense_Mutation_p.S99P|NONO_ENST00000490044.1_3'UTR|NONO_ENST00000373856.3_Missense_Mutation_p.S188P	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	188	DBHS.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					AGGAAGGCCCTCAGGAAAAGG	0.522			T	TFE3	papillary renal cancer																																	ENST00000535149.1				Dom	yes		X	Xq13.1	4841	T	"""non-POU domain containing, octamer-binding"""			E	TFE3		papillary renal cancer	NONO/TFE3(2)	0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(295-297)Tca>Cca		non-POU domain containing, octamer-binding							84.0	67.0	72.0					X																	70514290		2203	4298	6501	SO:0001583	missense	4841				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding	g.chrX:70514290T>C	L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"""RNA binding motif (RRM) containing"""	7871	protein-coding gene	gene with protein product	"""Nuclear RNA-binding protein, 54-kD"", ""non-Pou domain-containing octamer (ATGCAAAT) binding protein"", ""protein phosphatase 1, regulatory subunit 114"""	300084	"""non-POU-domain-containing, octamer-binding"""			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.562T>C	X.37:g.70514290T>C	ENSP00000276079:p.Ser188Pro					NONO_ENST00000490044.1_3'UTR|NONO_ENST00000373841.1_Missense_Mutation_p.S188P|NONO_ENST00000373856.3_Missense_Mutation_p.S188P|NONO_ENST00000276079.8_Missense_Mutation_p.S188P	p.S99P	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN			3	938	+	Renal(35;0.156)		188			DBHS.|RRM 1.		B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Missense_Mutation	SNP	ENST00000276079.8	37	c.295T>C	CCDS14410.1	.	.	.	.	.	.	.	.	.	.	t	20.6	4.020869	0.75275	.	.	ENSG00000147140	ENST00000535149;ENST00000276079;ENST00000373856;ENST00000373841;ENST00000454976	T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34	4.87	4.87	0.63330	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.058610	0.64402	D	0.000003	T	0.20333	0.0489	N	0.16233	0.39	0.52501	D	0.999955	D	0.57257	0.979	P	0.59825	0.864	T	0.02966	-1.1088	10	0.87932	D	0	-7.2131	9.2257	0.37405	0.1635:0.0:0.0:0.8365	.	188	Q15233	NONO_HUMAN	P	99;188;188;188;188	ENSP00000441364:S99P;ENSP00000276079:S188P;ENSP00000362963:S188P;ENSP00000362947:S188P;ENSP00000406673:S188P	ENSP00000276079:S188P	S	+	1	0	NONO	70431015	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.913000	0.63341	1.816000	0.52996	0.430000	0.28490	TCA		0.522	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057138.1	NM_007363		17	41	0	0	0	1	0	17	41				
TP53	7157	broad.mit.edu	37	17	7577102	7577102	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr17:7577102C>T	ENST00000269305.4	-	8	1025	c.836G>A	c.(835-837)gGg>gAg	p.G279E	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.G279E|TP53_ENST00000455263.2_Missense_Mutation_p.G279E|TP53_ENST00000445888.2_Missense_Mutation_p.G279E|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.G279E	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	279	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> W (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G279E(32)|p.0?(8)|p.G279V(4)|p.?(2)|p.G279fs*65(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.G279fs*26(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	CCGGTCTCTCCCAGGACAGGC	0.547		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		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"""		60	Substitution - Missense(36)|Deletion - Frameshift(8)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(2)	p.G279E(32)|p.0?(8)|p.G279V(4)|p.?(2)|p.G279fs*65(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.G279fs*26(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	upper_aerodigestive_tract(16)|urinary_tract(8)|oesophagus(7)|breast(5)|bone(5)|haematopoietic_and_lymphoid_tissue(4)|skin(4)|large_intestine(3)|central_nervous_system(3)|ovary(2)|stomach(1)|lung(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(835-837)gGg>gAg	Other conserved DNA damage response genes	tumor protein p53							75.0	65.0	68.0					17																	7577102		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.chr17:7577102C>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.836G>A	17.37:g.7577102C>T	ENSP00000269305:p.Gly279Glu	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_ENST00000269305.4_Missense_Mutation_p.G279E|TP53_ENST00000445888.2_Missense_Mutation_p.G279E|TP53_ENST00000359597.4_Missense_Mutation_p.G279E|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.G279E	p.G279E	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)	8	968	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	279		G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> W (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.836G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753775	0.89753	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99898	-7.61;-7.61;-7.61;-7.61;-7.61;-7.61	5.13	4.16	0.48862	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	0.99883	0.9944	M	0.90425	3.115	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	0.999;0.991;0.999;1.0	D	0.96457	0.9338	10	0.87932	D	0	-22.6503	11.5187	0.50539	0.0:0.9131:0.0:0.0869	.	279;279;279;279	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	E	279;279;279;279;279;268;147	ENSP00000352610:G279E;ENSP00000269305:G279E;ENSP00000398846:G279E;ENSP00000391127:G279E;ENSP00000391478:G279E;ENSP00000425104:G147E	ENSP00000269305:G279E	G	-	2	0	TP53	7517827	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.862000	0.69560	1.390000	0.46547	0.462000	0.41574	GGG		0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		7	20	0	0	0	1	0	7	20				
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833		TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627																																						ENST00000391415.1																			1	Substitution - Missense(1)	p.D18V(1)	endometrium(1)	central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(52-54)gAc>gTc		keratin associated protein 4-9							18.0	22.0	21.0					17																	39261693		692	1590	2282	SO:0001583	missense	100132386					keratin filament		g.chr17:39261693A>T	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.53A>T	17.37:g.39261693A>T	ENSP00000375234:p.Asp18Val						p.D18V	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	110	+			18						Missense_Mutation	SNP	ENST00000391415.1	37	c.53A>T	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	6.082	0.383461	0.11524	.	.	ENSG00000212722	ENST00000391415;ENST00000333994	T	0.32272	1.46	2.51	0.174	0.15040	.	.	.	.	.	T	0.25865	0.0630	M	0.64404	1.975	0.30580	P	0.762648	B	0.17852	0.024	B	0.14023	0.01	T	0.23154	-1.0196	8	0.45353	T	0.12	.	3.5681	0.07907	0.2702:0.2037:0.5261:0.0	.	18	Q9BYQ8	KRA49_HUMAN	V	18	ENSP00000375234:D18V	ENSP00000334461:D18V	D	+	2	0	KRTAP4-9	36515219	0.000000	0.05858	0.388000	0.26195	0.320000	0.28249	0.098000	0.15189	-0.245000	0.09625	0.155000	0.16302	GAC		0.627	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		6	35	0	0	0	1	0	6	35				
PELI3	246330	broad.mit.edu	37	11	66243444	66243444	+	Silent	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr11:66243444C>T	ENST00000320740.7	+	8	1376	c.1216C>T	c.(1216-1218)Ctg>Ttg	p.L406L	PELI3_ENST00000349459.6_Silent_p.L382L|CTD-3074O7.5_ENST00000525142.1_RNA|PELI3_ENST00000531856.1_3'UTR|CTD-3074O7.5_ENST00000602951.1_RNA|CTD-3074O7.5_ENST00000533502.1_RNA|CTD-3074O7.5_ENST00000527274.2_RNA|CTD-3074O7.5_ENST00000527092.1_RNA	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	406					defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						CGGCCTCTGCCTGGACCCTGG	0.692																																						ENST00000349459.6																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						c.(1144-1146)Ctg>Ttg		pellino E3 ubiquitin protein ligase family member 3							22.0	21.0	21.0					11																	66243444		2158	4221	6379	SO:0001819	synonymous_variant	246330					cytosol	protein binding	g.chr11:66243444C>T	AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"""Pellino homologs"""	30010	protein-coding gene	gene with protein product		609827	"""pellino homolog 3 (Drosophila)"""			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000320740.7:c.1216C>T	11.37:g.66243444C>T						PELI3_ENST00000320740.7_Silent_p.L406L|CTD-3074O7.5_ENST00000533502.1_RNA|CTD-3074O7.5_ENST00000527092.1_RNA|PELI3_ENST00000531856.1_3'UTR	p.L382L	NM_001098510.1	NP_001091980.1	Q8N2H9	PELI3_HUMAN			7	1428	+			406					Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Silent	SNP	ENST00000320740.7	37	c.1144C>T	CCDS31615.1																																																																																				0.692	PELI3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393226.1	NM_145065		15	39	0	0	0	1	0	15	39				
MYOM3	127294	broad.mit.edu	37	1	24387782	24387782	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr1:24387782C>T	ENST00000374434.3	-	34	4114	c.3952G>A	c.(3952-3954)Gct>Act	p.A1318T	MYOM3_ENST00000330966.7_Missense_Mutation_p.A1321T|MYOM3_ENST00000338909.5_Missense_Mutation_p.A211T|RP11-293P20.2_ENST00000439239.2_RNA	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1318						M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGGTGTTCAGCCATTGCATCC	0.512																																						ENST00000330966.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68						c.(3961-3963)Gct>Act		myomesin 3							46.0	48.0	47.0					1																	24387782		1925	4118	6043	SO:0001583	missense	127294							g.chr1:24387782C>T	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.3952G>A	1.37:g.24387782C>T	ENSP00000363557:p.Ala1318Thr					MYOM3_ENST00000374434.3_Missense_Mutation_p.A1318T|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000338909.5_Missense_Mutation_p.A211T	p.A1321T			Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	34	4123	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	1318					A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.3961G>A	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.236278	0.39498	.	.	ENSG00000142661	ENST00000338909;ENST00000374434;ENST00000330966;ENST00000374442	T;T;T	0.57107	0.42;0.54;0.54	4.65	4.65	0.58169	.	0.232960	0.37669	N	0.001999	T	0.62816	0.2459	M	0.68952	2.095	0.80722	D	1	D;B	0.71674	0.998;0.132	P;B	0.53146	0.719;0.047	T	0.62642	-0.6811	10	0.28530	T	0.3	.	17.5111	0.87760	0.0:1.0:0.0:0.0	.	1318;211	Q5VTT5;Q5VTT5-3	MYOM3_HUMAN;.	T	211;1318;1321;213	ENSP00000342689:A211T;ENSP00000363557:A1318T;ENSP00000332670:A1321T	ENSP00000332670:A1321T	A	-	1	0	MYOM3	24260369	1.000000	0.71417	0.998000	0.56505	0.344000	0.29017	2.021000	0.41020	2.112000	0.64535	0.591000	0.81541	GCT		0.512	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		3	34	0	0	0	1	0	3	34				
EGFR	1956	broad.mit.edu	37	7	55270224	55270224	+	Silent	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr7:55270224C>T	ENST00000275493.2	+	27	3354	c.3177C>T	c.(3175-3177)ccC>ccT	p.P1059P	EGFR_ENST00000454757.2_Silent_p.P1006P|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Silent_p.P1014P	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	1059					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)	AAAGCTGTCCCATCAAGGAAG	0.547		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.(3175-3177)ccC>ccT		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						85.0	64.0	72.0					7																	55270224		2203	4300	6503	SO:0001819	synonymous_variant	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.chr7:55270224C>T		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.3177C>T	7.37:g.55270224C>T		TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Silent_p.P1006P|EGFR_ENST00000455089.1_Silent_p.P1014P	p.P1059P	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)		27	3354	+	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)		1059			Ser-rich.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	ENST00000275493.2	37	c.3177C>T	CCDS5514.1																																																																																				0.547	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		5	13	0	0	0	1	0	5	13				
CTR9	9646	broad.mit.edu	37	11	10785379	10785379	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr11:10785379T>G	ENST00000361367.2	+	9	1573	c.1147T>G	c.(1147-1149)Tct>Gct	p.S383A		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	383					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AATTCTCGGCTCTCTCTATGC	0.353																																						ENST00000361367.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40						c.(1147-1149)Tct>Gct		CTR9, Paf1/RNA polymerase II complex component							78.0	84.0	82.0					11																	10785379		2200	4294	6494	SO:0001583	missense	9646				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck		g.chr11:10785379T>G	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.1147T>G	11.37:g.10785379T>G	ENSP00000355013:p.Ser383Ala						p.S383A	NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN		all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	9	1573	+			383					D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	c.1147T>G	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.754648	0.89843	.	.	ENSG00000198730	ENST00000361367	T	0.50001	0.76	5.62	5.62	0.85841	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.58836	0.2150	M	0.86651	2.83	0.80722	D	1	D	0.53745	0.962	P	0.46885	0.53	T	0.62676	-0.6804	10	0.17369	T	0.5	-16.5042	16.1172	0.81314	0.0:0.0:0.0:1.0	.	383	Q6PD62	CTR9_HUMAN	A	383	ENSP00000355013:S383A	ENSP00000355013:S383A	S	+	1	0	CTR9	10741955	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.886000	0.87288	2.266000	0.75297	0.533000	0.62120	TCT		0.353	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633		25	87	0	0	0	1	0	25	87				
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A	rs199838243	byFrequency	TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627																																						ENST00000385099.1																			0																																																			0							g.chr22:23006960C>A																													22.37:g.23006960C>A														0	63	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				3	9	1	0	0.004672	1	0.00482032	3	9				
ZNF347	84671	broad.mit.edu	37	19	53644840	53644840	+	Nonsense_Mutation	SNP	G	G	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr19:53644840G>T	ENST00000334197.7	-	5	1309	c.1241C>A	c.(1240-1242)tCa>tAa	p.S414*	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000452676.2_Nonsense_Mutation_p.S415*|ZNF347_ENST00000601469.2_Nonsense_Mutation_p.S415*	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	414					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(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TGTAAGGTGTGAATTTTGAGT	0.428																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(1243-1245)tCa>tAa		zinc finger protein 347							109.0	111.0	111.0					19																	53644840		2203	4300	6503	SO:0001587	stop_gained	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644840G>T	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1241C>A	19.37:g.53644840G>T	ENSP00000334146:p.Ser414*					ZNF347_ENST00000601469.2_Nonsense_Mutation_p.S415*|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Nonsense_Mutation_p.S414*	p.S415*	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	1670	-			414					B3KU77|B9EG59|G5E9N4|Q8TCN1	Nonsense_Mutation	SNP	ENST00000334197.7	37	c.1244C>A	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286729	0.59867	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	.	.	.	2.85	-1.81	0.07882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.2007	0.01884	0.456:0.157:0.2271:0.1598	.	.	.	.	X	414;415	.	ENSP00000334146:S414X	S	-	2	0	ZNF347	58336652	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.934000	0.01552	-0.165000	0.10908	-0.136000	0.14681	TCA		0.428	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		10	181	1	0	1.58986e-06	1	1.69412e-06	10	181				
SSSCA1	10534	broad.mit.edu	37	11	65337966	65337966	+	Missense_Mutation	SNP	G	G	A	rs139666819		TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr11:65337966G>A	ENST00000309328.3	+	1	66	c.4G>A	c.(4-6)Gcc>Acc	p.A2T	SSSCA1_ENST00000527920.1_5'UTR|FAM89B_ENST00000316409.2_5'Flank|SSSCA1_ENST00000531405.1_5'UTR|FAM89B_ENST00000530349.1_5'Flank|SSSCA1-AS1_ENST00000567594.1_RNA|SSSCA1_ENST00000526877.1_Missense_Mutation_p.A2T|FAM89B_ENST00000449319.2_5'Flank	NM_006396.1	NP_006387.1	O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	2					mitotic nuclear division (GO:0007067)					kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						CGGCAACATGGCCCTGAACGG	0.677																																						ENST00000526877.1																			0				kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						c.(4-6)Gcc>Acc		Sjogren syndrome/scleroderma autoantigen 1							59.0	59.0	59.0					11																	65337966		2201	4297	6498	SO:0001583	missense	10534				cell division|mitosis		protein binding	g.chr11:65337966G>A	AB001740	CCDS8104.1	11q13.1	2007-10-04	2007-10-04			ENSG00000173465			11328	protein-coding gene	gene with protein product		606044	"""Sjogren's syndrome/scleroderma autoantigen 1"""			9486406	Standard	NM_006396		Approved	p27	uc001oek.3	O60232		ENST00000309328.3:c.4G>A	11.37:g.65337966G>A	ENSP00000312318:p.Ala2Thr					SSSCA1_ENST00000531405.1_5'UTR|SSSCA1_ENST00000309328.3_Missense_Mutation_p.A2T|SSSCA1_ENST00000527920.1_5'UTR	p.A2T			O60232	SSA27_HUMAN			1	9	+			2						Missense_Mutation	SNP	ENST00000309328.3	37	c.4G>A	CCDS8104.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543030	0.65198	.	.	ENSG00000173465	ENST00000309328;ENST00000526877	T;T	0.58358	0.34;0.38	5.54	4.62	0.57501	.	0.125057	0.53938	D	0.000060	T	0.62744	0.2453	L	0.43152	1.355	0.43527	D	0.995803	D	0.63880	0.993	D	0.68192	0.956	T	0.65344	-0.6191	10	0.87932	D	0	-10.7983	11.7802	0.52010	0.0:0.0:0.824:0.176	.	2	O60232	SSA27_HUMAN	T	2	ENSP00000312318:A2T;ENSP00000431666:A2T	ENSP00000312318:A2T	A	+	1	0	SSSCA1	65094542	1.000000	0.71417	1.000000	0.80357	0.337000	0.28794	4.248000	0.58760	1.321000	0.45227	0.561000	0.74099	GCC		0.677	SSSCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389511.1	NM_006396		5	61	0	0	0	1	0	5	61				
PSMB10	5699	broad.mit.edu	37	16	67970346	67970346	+	Silent	SNP	A	A	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr16:67970346A>T	ENST00000358514.4	-	2	436	c.99T>A	c.(97-99)ccT>ccA	p.P33P	CTC-479C5.12_ENST00000573493.1_5'Flank	NM_002801.3	NP_002792.1	P40306	PSB10_HUMAN	proteasome (prosome, macropain) subunit, beta type, 10	33					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cell morphogenesis (GO:0000902)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|humoral immune response (GO:0006959)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)	Carfilzomib(DB08889)	TGCGTGCGTGAGGGACCTTGA	0.637																																						ENST00000358514.4																			0				NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(97-99)ccT>ccA		proteasome (prosome, macropain) subunit, beta type, 10							50.0	46.0	47.0					16																	67970346		2198	4300	6498	SO:0001819	synonymous_variant	5699				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|humoral immune response|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr16:67970346A>T	Y13640	CCDS10853.1	16q22.1	2008-02-05			ENSG00000205220	ENSG00000205220		"""Proteasome (prosome, macropain) subunits"""	9538	protein-coding gene	gene with protein product		176847		MECL1		8268911	Standard	NM_002801		Approved	LMP10, MGC1665, beta2i	uc002eux.2	P40306	OTTHUMG00000137553	ENST00000358514.4:c.99T>A	16.37:g.67970346A>T							p.P33P	NM_002801.3	NP_002792.1	P40306	PSB10_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)	2	436	-		Ovarian(137;0.0563)	33					B2R5J4|Q5U098	Silent	SNP	ENST00000358514.4	37	c.99T>A	CCDS10853.1																																																																																				0.637	PSMB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268887.1	NM_002801		6	24	0	0	0	1	0	6	24				
CELP	1057	broad.mit.edu	37	9	135962226	135962226	+	RNA	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr9:135962226C>T	ENST00000411440.2	+	0	733					NR_001275.2				carboxyl ester lipase pseudogene																		CCCTACACTACGGAAAACAGC	0.607																																						ENST00000411440.2																			0																																																			0							g.chr9:135962226C>T	L14813		9q34.2	2014-03-18	2003-02-28	2003-03-07	ENSG00000170827	ENSG00000170827			1849	pseudogene	pseudogene			"""carboxyl ester lipase-like (bile salt-stimulated lipase-like)"""	CELL		1639390	Standard	NR_001275		Approved		uc011mcu.1		OTTHUMG00000020857		9.37:g.135962226C>T								NR_001275.2						0	733	+									RNA	SNP	ENST00000411440.2	37																																																																																						0.607	CELP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000339837.1	NM_001808		9	15	0	0	0	1	0	9	15				
ADAMTS5	11096	broad.mit.edu	37	21	28296628	28296628	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr21:28296628C>T	ENST00000284987.5	-	8	2658	c.2537G>A	c.(2536-2538)cGt>cAt	p.R846H	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	846	Spacer.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						AAAGCTATAACGGACATCTAA	0.468																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	ENST00000284987.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						c.(2536-2538)cGt>cAt		ADAM metallopeptidase with thrombospondin type 1 motif, 5							120.0	124.0	123.0					21																	28296628		2203	4300	6503	SO:0001583	missense	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28296628C>T	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.2537G>A	21.37:g.28296628C>T	ENSP00000284987:p.Arg846His					AP001601.2_ENST00000426771.1_RNA	p.R846H	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN			8	2658	-			846			Spacer.		Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	c.2537G>A	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808633	0.70797	.	.	ENSG00000154736	ENST00000284987	T	0.52526	0.66	6.07	6.07	0.98685	ADAM-TS Spacer 1 (1);	0.000000	0.85682	D	0.000000	T	0.64382	0.2593	L	0.42686	1.345	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58289	-0.7662	10	0.41790	T	0.15	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	846	Q9UNA0	ATS5_HUMAN	H	846	ENSP00000284987:R846H	ENSP00000284987:R846H	R	-	2	0	ADAMTS5	27218499	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	5.755000	0.68750	2.884000	0.98904	0.655000	0.94253	CGT		0.468	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			8	110	0	0	0	1	0	8	110				
RELT	84957	broad.mit.edu	37	11	73103387	73103387	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr11:73103387G>A	ENST00000064780.2	+	6	760	c.499G>A	c.(499-501)Gcc>Acc	p.A167T	RELT_ENST00000393580.2_Missense_Mutation_p.A167T	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	167						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						CGCGGTCATCGCCATCGTCCC	0.677																																						ENST00000064780.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						c.(499-501)Gcc>Acc		RELT tumor necrosis factor receptor							65.0	65.0	65.0					11																	73103387		2200	4293	6493	SO:0001583	missense	84957					cytoplasm|integral to membrane|plasma membrane	binding|receptor activity	g.chr11:73103387G>A	AF319553	CCDS8222.1	11q13.2	2013-05-22	2007-06-14	2007-06-14		ENSG00000054967		"""Tumor necrosis factor receptor superfamily"""	13764	protein-coding gene	gene with protein product		611211	"""tumor necrosis factor receptor superfamily, member 19-like"""	TNFRSF19L		11313261, 16547002, 16950202, 16389068	Standard	NM_032871		Approved	FLJ14993	uc001otv.3	Q969Z4		ENST00000064780.2:c.499G>A	11.37:g.73103387G>A	ENSP00000064780:p.Ala167Thr					RELT_ENST00000393580.2_Missense_Mutation_p.A167T	p.A167T	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN			6	760	+			167					Q86V34|Q96JU1|Q9BUX7	Missense_Mutation	SNP	ENST00000064780.2	37	c.499G>A	CCDS8222.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.539860	0.85917	.	.	ENSG00000054967	ENST00000064780;ENST00000393580	T;T	0.78707	-1.2;-1.2	5.57	5.57	0.84162	.	0.057310	0.64402	D	0.000002	T	0.81133	0.4759	L	0.39898	1.24	0.46185	D	0.998919	D	0.76494	0.999	D	0.66979	0.948	T	0.80890	-0.1180	10	0.51188	T	0.08	-22.4	10.5818	0.45259	0.0878:0.0:0.9122:0.0	.	167	Q969Z4	TR19L_HUMAN	T	167	ENSP00000064780:A167T;ENSP00000377207:A167T	ENSP00000064780:A167T	A	+	1	0	RELT	72781035	1.000000	0.71417	0.969000	0.41365	0.660000	0.38997	5.502000	0.66956	2.619000	0.88677	0.561000	0.74099	GCC		0.677	RELT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397380.2	NM_032871		4	30	0	0	0	1	0	4	30				
FYCO1	79443	broad.mit.edu	37	3	46007981	46007981	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr3:46007981G>A	ENST00000296137.2	-	8	3050	c.2845C>T	c.(2845-2847)Cgc>Tgc	p.R949C	FYCO1_ENST00000535325.1_Missense_Mutation_p.R949C	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	949					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GCTACTTGGCGCTCCAGGCCC	0.652																																						ENST00000296137.2																			0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(2845-2847)Cgc>Tgc		FYVE and coiled-coil domain containing 1							66.0	64.0	65.0					3																	46007981		2203	4300	6503	SO:0001583	missense	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46007981G>A	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.2845C>T	3.37:g.46007981G>A	ENSP00000296137:p.Arg949Cys					FYCO1_ENST00000535325.1_Missense_Mutation_p.R949C	p.R949C	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	8	3050	-			949					B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	c.2845C>T	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	G	5.326	0.245428	0.10077	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.79033	-1.23;-1.23	5.39	-0.868	0.10652	.	0.888266	0.09830	N	0.750351	T	0.59662	0.2210	N	0.19112	0.55	0.09310	N	1	P;D	0.55605	0.941;0.972	B;B	0.42386	0.288;0.386	T	0.53027	-0.8496	10	0.56958	D	0.05	-0.2995	3.8072	0.08782	0.2827:0.0:0.3438:0.3735	.	949;949	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	C	949	ENSP00000296137:R949C;ENSP00000441178:R949C	ENSP00000296137:R949C	R	-	1	0	FYCO1	45982985	0.000000	0.05858	0.017000	0.16124	0.057000	0.15508	0.360000	0.20250	-0.530000	0.06349	-0.136000	0.14681	CGC		0.652	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		4	93	0	0	0	1	0	4	93				
COX7B	1349	broad.mit.edu	37	X	77160727	77160727	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chrX:77160727G>C	ENST00000481445.1	+	3	328	c.212G>C	c.(211-213)aGa>aCa	p.R71T		NM_001866.2	NP_001857.1	P24311	COX7B_HUMAN	cytochrome c oxidase subunit VIIb	71					cellular metabolic process (GO:0044237)|central nervous system development (GO:0007417)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			endometrium(2)	2						CCTGTTGGCAGAGTTACCCCA	0.398																																						ENST00000481445.1																			0				endometrium(2)	2						c.(211-213)aGa>aCa		cytochrome c oxidase subunit VIIb							131.0	105.0	114.0					X																	77160727		2203	4296	6499	SO:0001583	missense	1349				respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity	g.chrX:77160727G>C	Z14244	CCDS14437.1	Xq21.1	2011-07-04			ENSG00000131174	ENSG00000131174		"""Mitochondrial respiratory chain complex / Complex IV"""	2291	protein-coding gene	gene with protein product		300885				8382530	Standard	NM_001866		Approved		uc004ecu.1	P24311	OTTHUMG00000022718	ENST00000481445.1:c.212G>C	X.37:g.77160727G>C	ENSP00000417656:p.Arg71Thr						p.R71T	NM_001866.2	NP_001857.1	P24311	COX7B_HUMAN			3	328	+			71					B2R4M3|Q6ICR1	Missense_Mutation	SNP	ENST00000481445.1	37	c.212G>C	CCDS14437.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066098	0.76187	.	.	ENSG00000131174	ENST00000481445	T	0.53857	0.6	5.25	5.25	0.73442	Cytochrome C oxidase, subunit VIIB, domain (2);	0.066404	0.64402	D	0.000007	T	0.68979	0.3060	.	.	.	0.36192	D	0.85012	D	0.59767	0.986	P	0.62184	0.899	T	0.78687	-0.2107	9	0.87932	D	0	-11.803	13.2626	0.60113	0.0:0.0:1.0:0.0	.	71	P24311	COX7B_HUMAN	T	71	ENSP00000417656:R71T	ENSP00000417656:R71T	R	+	2	0	COX7B	77047383	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.402000	0.44521	2.192000	0.70111	0.523000	0.50628	AGA		0.398	COX7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058970.1	NM_001866		4	119	0	0	0	1	0	4	119				
LMBR1	64327	broad.mit.edu	37	7	156555850	156555850	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr7:156555850G>A	ENST00000353442.5	-	7	807	c.571C>T	c.(571-573)Ccc>Tcc	p.P191S	LMBR1_ENST00000540390.1_Missense_Mutation_p.P170S|LMBR1_ENST00000359422.4_Missense_Mutation_p.P39S|LMBR1_ENST00000354505.4_Missense_Mutation_p.P191S	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	191					embryonic digit morphogenesis (GO:0042733)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		TATAAATAGGGTAGATAGAAC	0.279																																						ENST00000353442.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18						c.(571-573)Ccc>Tcc		limb development membrane protein 1							27.0	30.0	29.0					7																	156555850		2195	4270	6465	SO:0001583	missense	64327					integral to membrane	receptor activity	g.chr7:156555850G>A	AF107454	CCDS5945.1	7q36.3	2013-08-05	2013-08-05	2005-07-25	ENSG00000105983	ENSG00000105983			13243	protein-coding gene	gene with protein product		605522	"""chromosome 7 open reading frame 2"", ""limb region 1 homolog (mouse)"""	C7orf2		10329000, 11090342	Standard	NM_022458		Approved	ACHP, FLJ11665, ZRS	uc003wmw.4	Q8WVP7	OTTHUMG00000151510	ENST00000353442.5:c.571C>T	7.37:g.156555850G>A	ENSP00000326604:p.Pro191Ser					LMBR1_ENST00000540390.1_Missense_Mutation_p.P170S|LMBR1_ENST00000359422.4_Missense_Mutation_p.P39S|LMBR1_ENST00000354505.4_Missense_Mutation_p.P191S	p.P191S	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)	7	807	-	Ovarian(565;0.218)	all_hematologic(28;0.0592)	191					A4D242|Q8N3E3|Q96QZ5|Q9H5N0|Q9HAG9|Q9UDN5|Q9Y6U2	Missense_Mutation	SNP	ENST00000353442.5	37	c.571C>T	CCDS5945.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458196	0.84317	.	.	ENSG00000105983	ENST00000353442;ENST00000359422;ENST00000415428;ENST00000354505;ENST00000540390;ENST00000347571	T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37	5.43	5.43	0.79202	LMBR1-like membrane protein (1);	0.000000	0.85682	D	0.000000	T	0.64821	0.2633	M	0.80616	2.505	0.80722	D	1	P;D;D	0.89917	0.827;1.0;1.0	P;D;D	0.91635	0.531;0.995;0.999	T	0.69172	-0.5215	10	0.87932	D	0	-14.9973	18.8532	0.92241	0.0:0.0:1.0:0.0	.	170;191;191	B7Z633;Q8WVP7-3;Q8WVP7	.;.;LMBR1_HUMAN	S	191;39;189;191;170;191	ENSP00000326604:P191S;ENSP00000352392:P39S;ENSP00000408256:P189S;ENSP00000346500:P191S;ENSP00000445509:P170S	ENSP00000337803:P191S	P	-	1	0	LMBR1	156248611	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.068000	0.76748	2.547000	0.85894	0.655000	0.94253	CCC		0.279	LMBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347939.3	NM_022458		4	48	0	0	0	1	0	4	48				
SNX20	124460	broad.mit.edu	37	16	50707378	50707378	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr16:50707378C>T	ENST00000330943.4	-	4	1061	c.890G>A	c.(889-891)cGg>cAg	p.R297Q	RP11-401P9.5_ENST00000570167.1_RNA|SNX20_ENST00000423026.2_Intron|RP11-401P9.5_ENST00000570241.2_RNA|SNX20_ENST00000300590.3_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	297					protein transport (GO:0015031)	endosome (GO:0005768)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						CGTGGGCCTCCGGAGCTGGCT	0.667																																						ENST00000330943.4																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						c.(889-891)cGg>cAg		sorting nexin 20							39.0	43.0	42.0					16																	50707378		2193	4297	6490	SO:0001583	missense	124460				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding	g.chr16:50707378C>T	AK055837	CCDS10745.1, CCDS10744.1, CCDS45481.1	16q12.1	2008-03-25	2008-03-25		ENSG00000167208	ENSG00000167208		"""Sorting nexins"""	30390	protein-coding gene	gene with protein product	"""selectin ligand interactor cytoplasmic 1"""	613281				18196517, 16782399	Standard	NM_182854		Approved	SLIC-1, SLIC1	uc002egk.2	Q7Z614	OTTHUMG00000133173	ENST00000330943.4:c.890G>A	16.37:g.50707378C>T	ENSP00000332062:p.Arg297Gln					SNX20_ENST00000423026.2_Intron|SNX20_ENST00000300590.3_Intron	p.R297Q	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN			4	1061	-			297					A8K9D5|Q08E98|Q6P4H2|Q8IV59	Missense_Mutation	SNP	ENST00000330943.4	37	c.890G>A	CCDS10745.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.378979	0.24944	.	.	ENSG00000167208	ENST00000330943;ENST00000413750	T	0.29655	1.56	5.67	2.22	0.28083	.	0.593626	0.16759	N	0.200718	T	0.20129	0.0484	L	0.38838	1.175	0.25478	N	0.987768	B	0.29037	0.231	B	0.18561	0.022	T	0.12656	-1.0539	10	0.26408	T	0.33	-34.8905	9.464	0.38802	0.0:0.683:0.0:0.317	.	297	Q7Z614	SNX20_HUMAN	Q	297;133	ENSP00000332062:R297Q	ENSP00000332062:R297Q	R	-	2	0	SNX20	49264879	0.017000	0.18338	0.728000	0.30774	0.891000	0.51852	0.564000	0.23563	0.761000	0.33130	0.561000	0.74099	CGG		0.667	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256879.2	NM_153337		30	79	0	0	0	1	0	30	79				
EXTL2	2135	broad.mit.edu	37	1	101343193	101343193	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr1:101343193T>C	ENST00000370114.3	-	3	1708	c.272A>G	c.(271-273)aAt>aGt	p.N91S	EXTL2_ENST00000535414.1_Missense_Mutation_p.N78S|EXTL2_ENST00000370113.3_Missense_Mutation_p.N91S	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	91					heparan sulfate proteoglycan biosynthetic process (GO:0015012)|N-acetylglucosamine metabolic process (GO:0006044)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	alpha-1,4-N-acetylgalactosaminyltransferase activity (GO:0035248)|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		TTTGTGCAGATTTGGTACAGC	0.418																																						ENST00000370114.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14						c.(271-273)aAt>aGt		exostosin-like glycosyltransferase 2							142.0	142.0	142.0					1																	101343193		2203	4300	6503	SO:0001583	missense	2135				N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr1:101343193T>C	U76189	CCDS775.1, CCDS72831.1	1p21	2013-03-01	2013-03-01		ENSG00000162694	ENSG00000162694	2.4.1.223	"""Exostosin glycosyltransferase family"""	3516	protein-coding gene	gene with protein product	"""alpha-1,4-N-acteylhexosaminyltransferase"""	602411	"""exostoses (multiple)-like 2"""			9450183, 15831490	Standard	NM_001439		Approved		uc001dtk.2	Q9UBQ6	OTTHUMG00000011814	ENST00000370114.3:c.272A>G	1.37:g.101343193T>C	ENSP00000359132:p.Asn91Ser					EXTL2_ENST00000535414.1_Missense_Mutation_p.N78S|EXTL2_ENST00000370113.3_Missense_Mutation_p.N91S	p.N91S	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)	3	1708	-		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	91					B2R795|D3DT60	Missense_Mutation	SNP	ENST00000370114.3	37	c.272A>G	CCDS775.1	.	.	.	.	.	.	.	.	.	.	T	7.734	0.699868	0.15106	.	.	ENSG00000162694	ENST00000370114;ENST00000370113;ENST00000535414;ENST00000450240;ENST00000416479	T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99	5.61	4.44	0.53790	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.454188	0.28236	N	0.016084	T	0.17874	0.0429	N	0.00642	-1.3	0.21105	N	0.99979	B;B	0.06786	0.0;0.001	B;B	0.12156	0.002;0.007	T	0.31223	-0.9951	10	0.12766	T	0.61	-2.0045	9.2611	0.37612	0.0:0.1411:0.0:0.8589	.	91;91	Q8N8F1;Q9UBQ6	.;EXTL2_HUMAN	S	91;91;78;99;78	ENSP00000359132:N91S;ENSP00000359131:N91S;ENSP00000444385:N78S;ENSP00000403363:N99S;ENSP00000392255:N78S	ENSP00000359131:N91S	N	-	2	0	EXTL2	101115781	1.000000	0.71417	0.058000	0.19502	0.964000	0.63967	3.233000	0.51311	1.011000	0.39340	0.533000	0.62120	AAT		0.418	EXTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032705.1	NM_001439		4	136	0	0	0	1	0	4	136				
ATR	545	broad.mit.edu	37	3	142281245	142281245	+	Silent	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr3:142281245C>T	ENST00000350721.4	-	4	1120	c.999G>A	c.(997-999)gtG>gtA	p.V333V	ATR_ENST00000383101.3_Silent_p.V333V	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	333					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GCCGCATGAGCACACCGTCTT	0.388								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(997-999)gtG>gtA	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							79.0	81.0	80.0					3																	142281245		2203	4300	6503	SO:0001819	synonymous_variant	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142281245C>T	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.999G>A	3.37:g.142281245C>T						ATR_ENST00000383101.3_Silent_p.V333V	p.V333V	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			4	1120	-			333					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	ENST00000350721.4	37	c.999G>A	CCDS3124.1																																																																																				0.388	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		4	93	0	0	0	1	0	4	93				
TPTE	7179	broad.mit.edu	37	21	10921985	10921985	+	Silent	SNP	T	T	C			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr21:10921985T>C	ENST00000361285.4	-	18	1367	c.1038A>G	c.(1036-1038)ggA>ggG	p.G346G	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Silent_p.G328G|TPTE_ENST00000342420.5_Silent_p.G308G	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	346	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAACCATAGTTCCTGTTCTAT	0.328																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(982-984)ggA>ggG		transmembrane phosphatase with tensin homology							132.0	112.0	119.0					21																	10921985		2203	4299	6502	SO:0001819	synonymous_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10921985T>C	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1038A>G	21.37:g.10921985T>C						TPTE_ENST00000361285.4_Silent_p.G346G|TPTE_ENST00000342420.5_Silent_p.G308G|TPTE_ENST00000415664.2_5'UTR	p.G328G	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	17	1351	-			346			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Silent	SNP	ENST00000361285.4	37	c.984A>G	CCDS13560.2																																																																																				0.328	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			7	84	0	0	0	1	0	7	84				
ERAS	3266	broad.mit.edu	37	X	48687675	48687675	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chrX:48687675G>A	ENST00000338270.1	+	1	393	c.142G>A	c.(142-144)Ggc>Agc	p.G48S	PCSK1N_ENST00000478242.1_5'Flank	NM_181532.2	NP_853510.1	Q7Z444	RASE_HUMAN	ES cell expressed Ras	48					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	14						TGTGGTGGTGGGCGCCAGTGG	0.642																																						ENST00000338270.1																			0				endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	14						c.(142-144)Ggc>Agc		ES cell expressed Ras							42.0	32.0	36.0					X																	48687675		2203	4300	6503	SO:0001583	missense	3266				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	g.chrX:48687675G>A	X00419	CCDS35246.1	Xp11.23	2014-05-09	2003-07-14	2003-07-16	ENSG00000187682	ENSG00000187682			5174	protein-coding gene	gene with protein product		300437	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog pseudogene"""	HRAS2, HRASP		12774123	Standard	NM_181532		Approved		uc031tjl.1	Q7Z444	OTTHUMG00000059533	ENST00000338270.1:c.142G>A	X.37:g.48687675G>A	ENSP00000339136:p.Gly48Ser						p.G48S	NM_181532.2	NP_853510.1	Q7Z444	RASE_HUMAN			1	393	+			48						Missense_Mutation	SNP	ENST00000338270.1	37	c.142G>A	CCDS35246.1	.	.	.	.	.	.	.	.	.	.	g	24.2	4.504587	0.85176	.	.	ENSG00000187682	ENST00000338270	D	0.98028	-4.67	4.63	4.63	0.57726	Small GTP-binding protein domain (1);	0.000000	0.36778	N	0.002414	D	0.99086	0.9686	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99084	1.0838	10	0.87932	D	0	.	14.1211	0.65186	0.0:0.0:1.0:0.0	.	48	Q7Z444	RASE_HUMAN	S	48	ENSP00000339136:G48S	ENSP00000339136:G48S	G	+	1	0	ERAS	48572619	1.000000	0.71417	0.991000	0.47740	0.498000	0.33706	7.405000	0.80007	2.297000	0.77311	0.597000	0.82753	GGC		0.642	ERAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132402.1	NM_181532		6	27	0	0	0	1	0	6	27				
POLD1	5424	broad.mit.edu	37	19	50910398	50910398	+	Silent	SNP	G	G	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr19:50910398G>A	ENST00000440232.2	+	13	1706	c.1653G>A	c.(1651-1653)caG>caA	p.Q551Q	POLD1_ENST00000595904.1_Silent_p.Q551Q|POLD1_ENST00000599857.1_Silent_p.Q551Q	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	551					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GTCGTGGCCAGCAGGTCAAGG	0.662								DNA polymerases (catalytic subunits)																														ENST00000440232.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1651-1653)caG>caA	DNA polymerases (catalytic subunits)	polymerase (DNA directed), delta 1, catalytic subunit							63.0	55.0	58.0					19																	50910398		2203	4300	6503	SO:0001819	synonymous_variant	5424				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50910398G>A		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.1653G>A	19.37:g.50910398G>A						POLD1_ENST00000599857.1_Silent_p.Q551Q|POLD1_ENST00000595904.1_Silent_p.Q551Q	p.Q551Q	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	13	1706	+		all_neural(266;0.0571)	551					Q8NER3|Q96H98	Silent	SNP	ENST00000440232.2	37	c.1653G>A	CCDS12795.1																																																																																				0.662	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			11	45	0	0	0	1	0	11	45				
DCHS2	54798	broad.mit.edu	37	4	155176790	155176790	+	Silent	SNP	G	G	A	rs200803727	byFrequency	TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr4:155176790G>A	ENST00000357232.4	-	21	5456	c.5457C>T	c.(5455-5457)aaC>aaT	p.N1819N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1819	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAATCAGGCCGTTCAAACCAC	0.408													G|||	16	0.00319489	0.0	0.0	5008	,	,		19680	0.0		0.0	False		,,,				2504	0.0164					ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(5455-5457)aaC>aaT		dachsous cadherin-related 2							108.0	99.0	102.0					4																	155176790		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155176790G>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.5457C>T	4.37:g.155176790G>A							p.N1819N	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	21	5456	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1819			Cadherin 16.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.5457C>T	CCDS3785.1																																																																																				0.408	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		4	53	0	0	0	1	0	4	53				
FLG	2312	broad.mit.edu	37	1	152283076	152283076	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr1:152283076C>T	ENST00000368799.1	-	3	4321	c.4286G>A	c.(4285-4287)gGc>gAc	p.G1429D	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1429	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)			CCCTGACTGGCCACGTGCGGA	0.557									Ichthyosis																													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.(4285-4287)gGc>gAc		filaggrin							198.0	199.0	199.0					1																	152283076		2203	4300	6503	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.chr1:152283076C>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.4286G>A	1.37:g.152283076C>T	ENSP00000357789:p.Gly1429Asp					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.G1429D	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4321	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1429			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.4286G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	9.345	1.064023	0.20067	.	.	ENSG00000143631	ENST00000368799	T	0.02140	4.43	3.16	-0.0186	0.13963	.	.	.	.	.	T	0.00754	0.0025	L	0.59436	1.845	0.09310	N	1	B	0.30033	0.266	B	0.24394	0.053	T	0.46091	-0.9216	9	0.28530	T	0.3	.	3.5234	0.07751	0.0:0.5301:0.2125:0.2574	.	1429	P20930	FILA_HUMAN	D	1429	ENSP00000357789:G1429D	ENSP00000357789:G1429D	G	-	2	0	FLG	150549700	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.483000	0.22292	-0.093000	0.12396	-0.222000	0.12452	GGC		0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		5	298	0	0	0	1	0	5	298				
TPD52L2	7165	broad.mit.edu	37	20	62500710	62500710	+	Silent	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr20:62500710C>T	ENST00000346249.4	+	2	157	c.81C>T	c.(79-81)gtC>gtT	p.V27V	TPD52L2_ENST00000351424.4_Silent_p.V27V|TPD52L2_ENST00000348257.5_Silent_p.V27V|TPD52L2_ENST00000358548.4_Silent_p.V27V|TPD52L2_ENST00000352482.4_Silent_p.V27V|TPD52L2_ENST00000217121.5_Silent_p.V27V|TPD52L2_ENST00000369927.4_Intron	NM_001243891.1|NM_003288.3	NP_001230820.1|NP_003279.2	O43399	TPD54_HUMAN	tumor protein D52-like 2	27					regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					ATGTTCCTGTCGACACAGGTG	0.532																																						ENST00000217121.5																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(79-81)gtC>gtT		tumor protein D52-like 2							110.0	105.0	107.0					20																	62500710		2203	4300	6503	SO:0001819	synonymous_variant	7165				regulation of cell proliferation	perinuclear region of cytoplasm	protein binding|protein homodimerization activity	g.chr20:62500710C>T	AF004430	CCDS13540.1, CCDS13541.1, CCDS13542.1, CCDS13543.1, CCDS13544.1, CCDS13545.1, CCDS58785.1, CCDS74752.1, CCDS74753.1	20q13.2-q13.3	2007-12-19			ENSG00000101150	ENSG00000101150			12007	protein-coding gene	gene with protein product		603747				9484778	Standard	NM_199360		Approved	D54, hD54	uc002ygy.3	O43399	OTTHUMG00000033009	ENST00000346249.4:c.81C>T	20.37:g.62500710C>T						TPD52L2_ENST00000348257.5_Silent_p.V27V|TPD52L2_ENST00000369927.4_Intron|TPD52L2_ENST00000346249.4_Silent_p.V27V|TPD52L2_ENST00000351424.4_Silent_p.V27V|TPD52L2_ENST00000352482.4_Silent_p.V27V|TPD52L2_ENST00000358548.4_Silent_p.V27V	p.V27V	NM_199360.2	NP_955392.1	O43399	TPD54_HUMAN			2	153	+	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)		27					B4DPJ6|E1P5G7|O43398|Q5JWU5|Q5JWU6|Q5JWU8|Q5U0E0|Q9H3Z6	Silent	SNP	ENST00000346249.4	37	c.81C>T	CCDS13540.1																																																																																				0.532	TPD52L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080248.1			4	109	0	0	0	1	0	4	109				
PCBP2	5094	broad.mit.edu	37	12	53849149	53849149	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr12:53849149G>A	ENST00000439930.3	+	2	110	c.88G>A	c.(88-90)Gga>Aga	p.G30R	PCBP2_ENST00000359462.5_Missense_Mutation_p.G30R|PCBP2_ENST00000552296.2_Missense_Mutation_p.G30R|PCBP2_ENST00000552819.1_Missense_Mutation_p.G30R|PCBP2_ENST00000437231.1_Missense_Mutation_p.G30R|PCBP2_ENST00000359282.5_Missense_Mutation_p.G30R|PCBP2_ENST00000549863.1_Missense_Mutation_p.G30R|PCBP2_ENST00000447282.1_Missense_Mutation_p.G30R|PCBP2_ENST00000603815.1_Missense_Mutation_p.G30R|PCBP2_ENST00000546463.1_Missense_Mutation_p.G30R|PCBP2_ENST00000455667.3_Missense_Mutation_p.G30R|PCBP2_ENST00000541275.1_Missense_Mutation_p.G30R|PCBP2_ENST00000548933.1_Missense_Mutation_p.G30R|RP11-793H13.8_ENST00000547717.1_RNA			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	30	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						CAGTATCATCGGAAAGGTAAG	0.338																																						ENST00000603815.1																			0				central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						c.(88-90)Gga>Aga		poly(rC) binding protein 2							104.0	101.0	102.0					12																	53849149		2203	4300	6503	SO:0001583	missense	5094				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding	g.chr12:53849149G>A	BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"""heterogenous nuclear ribonucleoprotein E2"""	601210	"""poly(rC)-binding protein 2"""			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.88G>A	12.37:g.53849149G>A	ENSP00000408949:p.Gly30Arg					PCBP2_ENST00000359282.5_Missense_Mutation_p.G30R|PCBP2_ENST00000437231.1_Missense_Mutation_p.G30R|PCBP2_ENST00000541275.1_Missense_Mutation_p.G30R|PCBP2_ENST00000552296.2_Missense_Mutation_p.G30R|PCBP2_ENST00000552819.1_Missense_Mutation_p.G30R|PCBP2_ENST00000548933.1_Missense_Mutation_p.G30R|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000455667.3_Missense_Mutation_p.G30R|PCBP2_ENST00000447282.1_Missense_Mutation_p.G30R|PCBP2_ENST00000439930.3_Missense_Mutation_p.G30R|PCBP2_ENST00000549863.1_Missense_Mutation_p.G30R|PCBP2_ENST00000359462.5_Missense_Mutation_p.G30R|PCBP2_ENST00000546463.1_Missense_Mutation_p.G30R	p.G30R	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN			3	438	+			30			KH 1.		A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Missense_Mutation	SNP	ENST00000439930.3	37	c.88G>A	CCDS44901.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178940	0.78564	.	.	ENSG00000197111	ENST00000541275;ENST00000359282;ENST00000447282;ENST00000437231;ENST00000439930;ENST00000549863;ENST00000359462;ENST00000546463;ENST00000550192;ENST00000551104;ENST00000552296;ENST00000552083;ENST00000552819;ENST00000455667;ENST00000548933;ENST00000546652	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41	5.23	5.23	0.72850	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.052241	0.85682	N	0.000000	D	0.95918	0.8671	H	0.96333	3.805	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.76494	0.999;0.967;0.991;0.992;0.995;0.989;0.971;0.991;0.991	D;P;D;D;D;D;D;P;D	0.73380	0.98;0.709;0.924;0.971;0.95;0.921;0.952;0.898;0.967	D	0.96508	0.9376	10	0.87932	D	0	.	12.7719	0.57426	0.0:0.0:0.8359:0.1641	.	30;30;30;30;30;30;30;30;30	B4DLC0;F8VRG9;Q15366;Q32Q82;G3V0E8;F8VYL7;Q68Y55;Q6IPF4;A8K7X6	.;.;PCBP2_HUMAN;.;.;.;.;.;.	R	30;30;30;30;30;30;30;30;30;30;30;30;30;30;30;11	ENSP00000446130:G30R;ENSP00000352228:G30R;ENSP00000394116:G30R;ENSP00000390304:G30R;ENSP00000408949:G30R;ENSP00000447670:G30R;ENSP00000352438:G30R;ENSP00000448762:G30R;ENSP00000448079:G30R;ENSP00000446601:G30R;ENSP00000448927:G30R;ENSP00000449070:G30R;ENSP00000388008:G30R;ENSP00000449062:G30R	ENSP00000352228:G30R	G	+	1	0	PCBP2	52135416	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.199000	0.77831	2.724000	0.93272	0.650000	0.86243	GGA		0.338	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407545.2	NM_005016		18	37	0	0	0	1	0	18	37				
EHMT1	79813	broad.mit.edu	37	9	140728828	140728828	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr9:140728828C>T	ENST00000460843.1	+	26	3595	c.3568C>T	c.(3568-3570)Cgg>Tgg	p.R1190W		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1190	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CATCGACGCGCGGTTCTACGG	0.682																																						ENST00000460843.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(3568-3570)Cgg>Tgg		euchromatic histone-lysine N-methyltransferase 1							66.0	65.0	65.0					9																	140728828		2202	4300	6502	SO:0001583	missense	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140728828C>T	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.3568C>T	9.37:g.140728828C>T	ENSP00000417980:p.Arg1190Trp						p.R1190W	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	26	3595	+	all_cancers(76;0.164)		1190			SET.		B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	37	c.3568C>T	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017359	0.75161	.	.	ENSG00000181090	ENST00000460843	D	0.82081	-1.57	5.52	3.61	0.41365	SET domain (3);	0.106566	0.64402	D	0.000002	D	0.90314	0.6970	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90922	0.4784	10	0.87932	D	0	.	10.7975	0.46470	0.1303:0.801:0.0:0.0687	.	1190	Q9H9B1	EHMT1_HUMAN	W	1190	ENSP00000417980:R1190W	ENSP00000417980:R1190W	R	+	1	2	EHMT1	139848649	0.999000	0.42202	0.042000	0.18584	0.759000	0.43091	4.365000	0.59486	1.325000	0.45301	0.561000	0.74099	CGG		0.682	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		12	64	0	0	0	1	0	12	64				
CDX4	1046	broad.mit.edu	37	X	72667524	72667524	+	Silent	SNP	G	G	A			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chrX:72667524G>A	ENST00000373514.2	+	1	435	c.435G>A	c.(433-435)aaG>aaA	p.K145K		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	145					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	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)			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					GCGCCGCCAAGGCCAGTTCCC	0.637																																						ENST00000373514.2																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18						c.(433-435)aaG>aaA		caudal type homeobox 4							22.0	21.0	21.0					X																	72667524		2170	4231	6401	SO:0001819	synonymous_variant	1046					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:72667524G>A	AF029879	CCDS14424.1	Xq13.2	2012-03-09	2007-07-09		ENSG00000131264	ENSG00000131264		"""Homeoboxes / ANTP class : HOXL subclass"""	1808	protein-coding gene	gene with protein product		300025	"""caudal type homeo box transcription factor 4"""			7655457	Standard	NM_005193		Approved		uc011mqk.2	O14627	OTTHUMG00000021831	ENST00000373514.2:c.435G>A	X.37:g.72667524G>A							p.K145K	NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN			1	435	+	Renal(35;0.156)		145					A1A513|Q5JS20	Silent	SNP	ENST00000373514.2	37	c.435G>A	CCDS14424.1																																																																																				0.637	CDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057229.2	NM_005193		9	28	0	0	0	1	0	9	28				
AKAP8	10270	broad.mit.edu	37	19	15472604	15472604	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr19:15472604A>C	ENST00000269701.2	-	11	1392	c.1332T>G	c.(1330-1332)atT>atG	p.I444M		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	444					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						GCCGCTTCTCAATTTTCTTAT	0.448																																					GBM(190;1671 2163 3274 27186 30476)	ENST00000269701.2																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						c.(1330-1332)atT>atG		A kinase (PRKA) anchor protein 8							135.0	123.0	127.0					19																	15472604		2203	4300	6503	SO:0001583	missense	10270				signal transduction	nuclear matrix		g.chr19:15472604A>C	Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"""A-kinase anchor proteins"""	378	protein-coding gene	gene with protein product	"""A-kinase anchor protein, 95kDa"""	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.1332T>G	19.37:g.15472604A>C	ENSP00000269701:p.Ile444Met						p.I444M	NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN			11	1392	-			444						Missense_Mutation	SNP	ENST00000269701.2	37	c.1332T>G	CCDS12329.1	.	.	.	.	.	.	.	.	.	.	A	14.82	2.650061	0.47362	.	.	ENSG00000105127	ENST00000269701;ENST00000537303	T	0.47869	0.83	5.82	-6.61	0.01818	.	0.098442	0.43747	N	0.000531	T	0.38134	0.1029	N	0.22421	0.69	0.25504	N	0.987522	D;D	0.76494	0.999;0.999	D;D	0.68483	0.958;0.958	T	0.37686	-0.9695	10	0.48119	T	0.1	-21.1011	2.6457	0.04983	0.3642:0.0788:0.3491:0.2078	.	444;444	Q8NE02;O43823	.;AKAP8_HUMAN	M	444;193	ENSP00000269701:I444M	ENSP00000269701:I444M	I	-	3	3	AKAP8	15333604	0.901000	0.30685	0.572000	0.28498	0.389000	0.30415	-0.121000	0.10643	-1.167000	0.02779	-0.385000	0.06624	ATT		0.448	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	NM_005858		15	78	0	0	0	1	0	15	78				
ZNF624	57547	broad.mit.edu	37	17	16537944	16537944	+	Splice_Site	SNP	C	C	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr17:16537944C>T	ENST00000311331.7	-	4	371	c.280G>A	c.(280-282)Ggg>Agg	p.G94R	ZNF624_ENST00000579983.1_5'UTR	NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	94	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTATCCTTACCCAGGGAGACC	0.433																																					NSCLC(186;1023 2134 13330 38202 39800)	ENST00000311331.7																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26						c.e4+1		zinc finger protein 624							132.0	119.0	123.0					17																	16537944		2203	4300	6503	SO:0001630	splice_region_variant	57547				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:16537944C>T	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.280+1G>A	17.37:g.16537944C>T						ZNF624_ENST00000579983.1_5'UTR	p.G94_splice	NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	4	371	-			94			KRAB.		Q3SY62|Q3SY63|Q6ZN27	Splice_Site	SNP	ENST00000311331.7	37	c.280_splice	CCDS11180.1	.	.	.	.	.	.	.	.	.	.	C	9.980	1.227935	0.22542	.	.	ENSG00000197566	ENST00000311331;ENST00000423860	T;T	0.02863	4.13;4.13	3.69	3.69	0.42338	Krueppel-associated box (4);	.	.	.	.	T	0.18759	0.0450	M	0.90425	3.115	0.32407	N	0.551185	D	0.76494	0.999	D	0.91635	0.999	T	0.20009	-1.0288	8	.	.	.	.	13.3585	0.60642	0.0:1.0:0.0:0.0	.	94	Q9P2J8	ZN624_HUMAN	R	94	ENSP00000310472:G94R;ENSP00000406525:G94R	.	G	-	1	0	ZNF624	16478669	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	4.125000	0.57931	2.076000	0.62316	0.555000	0.69702	GGG		0.433	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3	XM_047617	Missense_Mutation	21	69	0	0	0	1	0	21	69				
INPP4A	3631	broad.mit.edu	37	2	99137191	99137191	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr2:99137191delT	ENST00000523221.1	+	2	148	c.148delT	c.(148-150)ttafs	p.L50fs	INPP4A_ENST00000409540.3_Frame_Shift_Del_p.L50fs|INPP4A_ENST00000074304.5_Frame_Shift_Del_p.L50fs|INPP4A_ENST00000409463.1_Frame_Shift_Del_p.L50fs|INPP4A_ENST00000545415.1_Frame_Shift_Del_p.L50fs|INPP4A_ENST00000409016.4_Frame_Shift_Del_p.L50fs|INPP4A_ENST00000409851.3_Frame_Shift_Del_p.L50fs			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	50	C2.				inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						AGAATTTAGCTTAGGTAGGTA	0.303																																						ENST00000074304.5																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						c.(148-150)tafs		inositol polyphosphate-4-phosphatase, type I, 107kDa							32.0	30.0	31.0					2																	99137191		1768	4003	5771	SO:0001589	frameshift_variant	3631				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr2:99137191delT	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.148delT	2.37:g.99137191delT	ENSP00000427722:p.Leu50fs					INPP4A_ENST00000409463.1_Frame_Shift_Del_p.L50fs|INPP4A_ENST00000545415.1_Frame_Shift_Del_p.L50fs|INPP4A_ENST00000409540.3_Frame_Shift_Del_p.L50fs|INPP4A_ENST00000409016.3_Frame_Shift_Del_p.L50fs|INPP4A_ENST00000523221.1_Frame_Shift_Del_p.L50fs|INPP4A_ENST00000409851.3_Frame_Shift_Del_p.L50fs	p.L50fs	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN			4	541	+			50			C2.		O15326|Q13187|Q53TD8|Q8TC02	Frame_Shift_Del	DEL	ENST00000523221.1	37	c.148delT	CCDS46369.1																																																																																				0.303	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566		2	4						2	4	---	---	---	---
PTMA	5757	broad.mit.edu	37	2	232574924	232574924	+	Intron	DEL	G	G	-			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr2:232574924delG	ENST00000341369.7	+	2	236				PTMA_ENST00000409115.3_Intron|PTMA_ENST00000410064.1_Frame_Shift_Del_p.V12fs|PTMA_ENST00000409321.1_Intron|PTMA_ENST00000466801.1_Intron|PTMA_ENST00000409683.1_Intron	NM_001099285.1	NP_001092755.1	P06454	PTMA_HUMAN	prothymosin, alpha						transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				lung(3)|ovary(1)|prostate(1)|skin(1)	6		Renal(207;0.0112)|all_hematologic(139;0.0315)|Acute lymphoblastic leukemia(138;0.0921)|all_lung(227;0.142)		Epithelial(121;1.75e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00221)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		TGGCGGCAGTGGGGCGTCGAG	0.721																																						ENST00000410064.1																			0				lung(3)|ovary(1)|prostate(1)|skin(1)	6						c.(34-36)gtfs		prothymosin, alpha							5.0	5.0	5.0					2																	232574924		822	1918	2740	SO:0001627	intron_variant	5757				transcription, DNA-dependent	nucleus		g.chr2:232574924delG		CCDS42833.1, CCDS46541.1	2q37.1	2008-07-04	2008-04-03		ENSG00000187514	ENSG00000187514			9623	protein-coding gene	gene with protein product	"""gene sequence 28"""	188390	"""prothymosin, alpha (gene sequence 28)"""	TMSA		1612591	Standard	NM_002823		Approved		uc002vsc.4	P06454	OTTHUMG00000153810	ENST00000341369.7:c.46-1134G>-	2.37:g.232574924delG						PTMA_ENST00000466801.1_Intron|PTMA_ENST00000409683.1_Intron|PTMA_ENST00000409321.1_Intron|PTMA_ENST00000409115.3_Intron|PTMA_ENST00000341369.7_Intron	p.V12fs			P06454	PTMA_HUMAN		Epithelial(121;1.75e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00221)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)	1	434	+		Renal(207;0.0112)|all_hematologic(139;0.0315)|Acute lymphoblastic leukemia(138;0.0921)|all_lung(227;0.142)	0					Q15249|Q15592	Frame_Shift_Del	DEL	ENST00000341369.7	37	c.36delG	CCDS42833.1																																																																																				0.721	PTMA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000332553.1			2	4						2	4	---	---	---	---
SEMA3B	7869	broad.mit.edu	37	3	50308562	50308563	+	RNA	INS	-	-	G			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr3:50308562_50308563insG	ENST00000418948.1	+	0	728_729							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GAGGATGGCAAGGGGAAGAGTC	0.604																																						ENST00000418948.1																			0				central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6								sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B																																						7869				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity	g.chr3:50308562_50308563insG	U28369	CCDS74941.1	3p21.3	2013-01-11			ENSG00000012171	ENSG00000012171		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10724	protein-coding gene	gene with protein product		601281		SEMAA		7748561, 8633026	Standard	NM_004636		Approved	SemA, semaV, LUCA-1, sema5	uc003cyu.3	Q13214	OTTHUMG00000156970		3.37:g.50308566_50308566dupG										Q13214	SEM3B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	0	728_729	+								Q6GU46|Q8TB71|Q8TDV7|Q93018|Q96GX0	RNA	INS	ENST00000418948.1	37																																																																																						0.604	SEMA3B-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000346890.2	NM_001005914		2	4						2	4	---	---	---	---
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs56831387|rs112413030|rs76614416	byFrequency	TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101									T cell receptor beta variable 29-1																		GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457														1983	0.395966	0.3812	0.5187	5008	,	,		21381	0.2222		0.5974	False		,,,				2504	0.3006					ENST00000422143.2																			0																	1374,2160		346,682,739						1.6	0.0		dbSNP_129	48	4141,3571		1278,1585,993	no	intergenic				1624,2267,1732	A1A1,A1R,RR		46.3045,38.8795,49.0397				5515,5731						0							g.chr7:142448200_142448207delGGTGGAAA	L36092		7q34	2012-02-07			ENSG00000232869	ENSG00000232869		"""T cell receptors / TRB locus"""	12210	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV291, TCRBV29S1, TCRBV4S1A1T			OTTHUMG00000158898		7.37:g.142448208_142448215delGGTGGAAA														0	101	+									RNA	DEL	ENST00000422143.2	37																																																																																						0.457	TRBV29-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352510.1	NG_001333		4	8						4	8	---	---	---	---
KCNMA1	3778	broad.mit.edu	37	10	78729785	78729786	+	Frame_Shift_Ins	INS	-	-	T			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr10:78729785_78729786insT	ENST00000286628.8	-	20	2305_2306	c.2306_2307insA	c.(2305-2307)aagfs	p.K769fs	KCNMA1_ENST00000404771.3_Frame_Shift_Ins_p.K769fs|KCNMA1_ENST00000286627.5_Frame_Shift_Ins_p.K711fs|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000372440.1_Frame_Shift_Ins_p.K711fs|KCNMA1_ENST00000372443.1_Frame_Shift_Ins_p.K711fs|KCNMA1_ENST00000406533.3_Frame_Shift_Ins_p.K773fs|RP11-443A13.5_ENST00000598613.1_RNA|KCNMA1_ENST00000354353.5_Frame_Shift_Ins_p.K772fs|KCNMA1_ENST00000404857.1_Frame_Shift_Ins_p.K711fs|RP11-443A13.5_ENST00000600782.1_RNA	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	769					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.K711fs*17(1)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	CATTCCGTTGCTTTTTTTTTGG	0.505																																						ENST00000286627.5																			1	Deletion - Frameshift(1)	p.K711fs*17(1)	ovary(1)	breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68						c.(2131-2133)acafs		potassium large conductance calcium-activated channel, subfamily M, alpha member 1	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)																																			SO:0001589	frameshift_variant	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78729785_78729786insT	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.2307dupA	10.37:g.78729794_78729794dupT	ENSP00000286628:p.Lys769fs					KCNMA1_ENST00000372440.1_Frame_Shift_Ins_p.T711fs|KCNMA1_ENST00000286628.8_Frame_Shift_Ins_p.T769fs|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000404771.3_Frame_Shift_Ins_p.T769fs|KCNMA1_ENST00000354353.5_Frame_Shift_Ins_p.T772fs|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000406533.3_Frame_Shift_Ins_p.T773fs|RP11-443A13.5_ENST00000598613.1_RNA|KCNMA1_ENST00000404857.1_Frame_Shift_Ins_p.T711fs|KCNMA1_ENST00000372443.1_Frame_Shift_Ins_p.T711fs	p.T711fs	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		19	3084_3085	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		706					F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Frame_Shift_Ins	INS	ENST00000286628.8	37	c.2132_2133insA																																																																																					0.505	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		7	124						7	124	---	---	---	---
KMT2A	4297	broad.mit.edu	37	11	118344185	118344186	+	Frame_Shift_Ins	INS	-	-	C			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr11:118344185_118344186insC	ENST00000389506.5	+	3	2311_2312	c.2311_2312insC	c.(2311-2313)accfs	p.T771fs	KMT2A_ENST00000534358.1_Frame_Shift_Ins_p.T771fs|KMT2A_ENST00000354520.4_Frame_Shift_Ins_p.T771fs			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	771					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)										CTCACCTCTCACCCCCCCGTCT	0.45																																						ENST00000534358.1																			0											c.(2311-2313)cccfs		lysine (K)-specific methyltransferase 2A																																				SO:0001589	frameshift_variant	4297							g.chr11:118344185_118344186insC	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.2318dupC	11.37:g.118344192_118344192dupC	ENSP00000374157:p.Thr771fs					KMT2A_ENST00000389506.5_Frame_Shift_Ins_p.P771fs|KMT2A_ENST00000354520.4_Frame_Shift_Ins_p.P771fs	p.P771fs	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					3	2334_2335	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Frame_Shift_Ins	INS	ENST00000389506.5	37	c.2311_2312insC	CCDS31686.1																																																																																				0.450	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		7	194						7	194	---	---	---	---
SNORD3B-1	26851	broad.mit.edu	37	17	18967234	18967234	+	lincRNA	DEL	C	C	-			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr17:18967234delC	ENST00000363359.1	+	0	432				SNORD3B-2_ENST00000364880.1_lincRNA					small nucleolar RNA, C/D box 3B-1																		GAAGGAAAAaccactcagacc	0.537																																						ENST00000364880.1																			0																				41.0	106.0	92.0					17																	18967234		508	1937	2445			0							g.chr17:18967234delC	AF020534, AF020533, AF020532		17p11.2	2013-09-05	2006-11-28	2006-11-28	ENSG00000200229	ENSG00000265185			10168	non-coding RNA	RNA, small nucleolar			"""RNA, U3A1 small nucleolar, RNA, U3A1 small nucleolar"""	RNU3A1		9365252	Standard	NR_003271		Approved	U3a, U3b1, U3b2					17.37:g.18967234delC														0	215	-									RNA	DEL	ENST00000363359.1	37																																																																																						0.537	SNORD3B-1-201	KNOWN	basic	snoRNA	lincRNA		NR_003271		21	215						21	215	---	---	---	---
NKX2-2	4821	broad.mit.edu	37	20	21492758	21492759	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr20:21492758_21492759delCC	ENST00000377142.4	-	2	980_981	c.624_625delGG	c.(622-627)ttggtcfs	p.LV208fs	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	208					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CCGTCCCTGACCAAGACGGGCA	0.668																																						ENST00000377142.4																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(622-627)tttcfs		NK2 homeobox 2																																				SO:0001589	frameshift_variant	4821				brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity	g.chr20:21492758_21492759delCC	AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"""Homeoboxes / ANTP class : NKL subclass"""	7835	protein-coding gene	gene with protein product		604612	"""NK-2 (Drosophila) homolog B"", ""NK2 transcription factor related, locus 2 (Drosophila)"""	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.624_625delGG	20.37:g.21492758_21492759delCC	ENSP00000366347:p.Leu208fs					NKX2-2-AS1_ENST00000549659.1_RNA	p.LV208fs	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN			2	980_981	-			208						Frame_Shift_Del	DEL	ENST00000377142.4	37	c.624_625delGG	CCDS13145.1																																																																																				0.668	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078278.9			11	35						11	35	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76909650	76909659	+	Frame_Shift_Del	DEL	AGCTCCGCTG	AGCTCCGCTG	-			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chrX:76909650_76909659delAGCTCCGCTG	ENST00000373344.5	-	14	4460_4469	c.4246_4255delCAGCGGAGCT	c.(4246-4257)cagcggagctatfs	p.QRSY1416fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.QRSY1378fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1416					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.R1417L(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTCTGTTTATAGCTCCGCTGATTTTCTTCC	0.314			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		3	Substitution - Missense(2)|Unknown(1)	p.R1417L(2)|p.?(1)	lung(2)|bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(4246-4257)atfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76909650_76909659delAGCTCCGCTG	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4246_4255delCAGCGGAGCT	X.37:g.76909650_76909659delAGCTCCGCTG	ENSP00000362441:p.Gln1416fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.QRSY1378fs	p.QRSY1416fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			14	4460_4469	-			1416					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.4246_4255delCAGCGGAGCT	CCDS14434.1																																																																																				0.314	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		17	115						17	115	---	---	---	---
