#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
OBSCN	84033	broad.mit.edu	37	1	228465550	228465550	+	Nonsense_Mutation	SNP	C	C	T	rs201725133		TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr1:228465550C>T	ENST00000422127.1	+	25	6894	c.6850C>T	c.(6850-6852)Cga>Tga	p.R2284*	OBSCN_ENST00000570156.2_Nonsense_Mutation_p.R2713*|OBSCN_ENST00000366709.4_5'UTR|RP5-1139B12.3_ENST00000602947.1_RNA|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Nonsense_Mutation_p.R1131*|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.R2284*	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2284					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGCCCAGCTCCGAGTGAAGGG	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		10920	0.001		0.0	False		,,,				2504	0.0					ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(8137-8139)Cga>Tga		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF		C	stop/ARG,stop/ARG	1,3785		0,1,1892	48.0	49.0	48.0		6850,6850	1.0	1.0	1		48	2,8210		0,2,4104	yes	stop-gained,stop-gained	OBSCN	NM_001098623.1,NM_052843.2	,	0,3,5996	TT,TC,CC		0.0244,0.0264,0.025	,	2284/7969,2284/6621	228465550	3,11995	1893	4106	5999	SO:0001587	stop_gained	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228465550C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.6850C>T	1.37:g.228465550C>T	ENSP00000409493:p.Arg2284*					OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Nonsense_Mutation_p.R1131*|OBSCN_ENST00000422127.1_Nonsense_Mutation_p.R2284*|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.R2284*	p.R2713*	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			30	8211	+		Prostate(94;0.0405)	1710			Ig-like 26.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Nonsense_Mutation	SNP	ENST00000422127.1	37	c.8137C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	47	13.424517	0.99741	2.64E-4	2.44E-4	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	.	.	.	4.28	0.997	0.19851	.	0.422636	0.19583	N	0.110813	.	.	.	.	.	.	0.21184	N	0.999768	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	12.2601	0.54645	0.7049:0.2951:0.0:0.0	.	.	.	.	X	2284;2284;1131	.	ENSP00000284548:R2284X	R	+	1	2	OBSCN	226532173	0.928000	0.31464	0.996000	0.52242	0.650000	0.38633	2.319000	0.43788	0.451000	0.26802	-0.678000	0.03780	CGA		0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		20	19	0	0	0	1	0	20	19				
KCNJ3	3760	broad.mit.edu	37	2	155555776	155555776	+	Silent	SNP	C	C	G			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr2:155555776C>G	ENST00000295101.2	+	1	966	c.489C>G	c.(487-489)ctC>ctG	p.L163L	AC061961.2_ENST00000443901.1_RNA|KCNJ3_ENST00000544049.1_Silent_p.L163L	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	163					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)	p.L163L(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TCCTCTTCCTCTTCCAGTCCA	0.572																																						ENST00000295101.2																			1	Substitution - coding silent(1)	p.L163L(1)	lung(1)	breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54						c.(487-489)ctC>ctG		potassium inwardly-rectifying channel, subfamily J, member 3	Halothane(DB01159)						105.0	85.0	92.0					2																	155555776		2203	4300	6503	SO:0001819	synonymous_variant	3760				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr2:155555776C>G	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.489C>G	2.37:g.155555776C>G						KCNJ3_ENST00000544049.1_Silent_p.L163L	p.L163L	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN			1	966	+			163					B4DEW7|Q8TBI0	Silent	SNP	ENST00000295101.2	37	c.489C>G	CCDS2200.1																																																																																				0.572	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		22	24	0	0	0	1	0	22	24				
PLEC	5339	broad.mit.edu	37	8	144995605	144995605	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr8:144995605C>T	ENST00000322810.4	-	32	8964	c.8795G>A	c.(8794-8796)gGc>gAc	p.G2932D	PLEC_ENST00000398774.2_Missense_Mutation_p.G2763D|PLEC_ENST00000356346.3_Missense_Mutation_p.G2781D|PLEC_ENST00000354589.3_Missense_Mutation_p.G2795D|PLEC_ENST00000354958.2_Missense_Mutation_p.G2773D|PLEC_ENST00000345136.3_Missense_Mutation_p.G2795D|PLEC_ENST00000436759.2_Missense_Mutation_p.G2822D|PLEC_ENST00000527096.1_Missense_Mutation_p.G2818D|PLEC_ENST00000357649.2_Missense_Mutation_p.G2799D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2932	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GACGATGAGGCCCTTCTGCAT	0.672																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(8794-8796)gGc>gAc		plectin							46.0	53.0	51.0					8																	144995605		2025	4170	6195	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144995605C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8795G>A	8.37:g.144995605C>T	ENSP00000323856:p.Gly2932Asp					PLEC_ENST00000354589.3_Missense_Mutation_p.G2795D|PLEC_ENST00000357649.2_Missense_Mutation_p.G2799D|PLEC_ENST00000436759.2_Missense_Mutation_p.G2822D|PLEC_ENST00000356346.3_Missense_Mutation_p.G2781D|PLEC_ENST00000345136.3_Missense_Mutation_p.G2795D|PLEC_ENST00000398774.2_Missense_Mutation_p.G2763D|PLEC_ENST00000527096.1_Missense_Mutation_p.G2818D|PLEC_ENST00000354958.2_Missense_Mutation_p.G2773D	p.G2932D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	8964	-			2932			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.8795G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	5.904	0.350970	0.11182	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69	4.94	1.21	0.21127	.	0.382752	0.22531	N	0.058843	T	0.37571	0.1008	N	0.02357	-0.585	0.37451	D	0.914802	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.06405	0.001;0.002;0.002;0.001;0.002;0.001;0.001;0.001	T	0.42649	-0.9439	10	0.02654	T	1	.	11.0278	0.47755	0.0:0.1345:0.0:0.8655	.	2822;2781;2773;2932;2763;2795;2799;2795	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	D	2795;2799;2795;2763;2932;2773;2781;2822;2818	ENSP00000344848:G2795D;ENSP00000350277:G2799D;ENSP00000346602:G2795D;ENSP00000381756:G2763D;ENSP00000323856:G2932D;ENSP00000347044:G2773D;ENSP00000348702:G2781D;ENSP00000388180:G2822D;ENSP00000434583:G2818D	ENSP00000323856:G2932D	G	-	2	0	PLEC	145067593	0.040000	0.19996	0.989000	0.46669	0.351000	0.29236	0.074000	0.14662	0.042000	0.15717	-1.316000	0.01300	GGC		0.672	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		4	78	0	0	0	1	0	4	78				
OSBPL10	114884	broad.mit.edu	37	3	31774775	31774775	+	Missense_Mutation	SNP	C	C	G	rs553816050		TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr3:31774775C>G	ENST00000396556.2	-	6	1191	c.1069G>C	c.(1069-1071)Gaa>Caa	p.E357Q	OSBPL10_ENST00000438237.2_Missense_Mutation_p.E293Q|OSBPL10_ENST00000467647.1_5'UTR	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	357					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GAGGTTTGTTCGTCTTCAGCA	0.453																																						ENST00000396556.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(1069-1071)Gaa>Caa		oxysterol binding protein-like 10							143.0	136.0	139.0					3																	31774775		2203	4300	6503	SO:0001583	missense	114884				lipid transport		lipid binding	g.chr3:31774775C>G	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.1069G>C	3.37:g.31774775C>G	ENSP00000379804:p.Glu357Gln					OSBPL10_ENST00000438237.2_Missense_Mutation_p.E293Q|OSBPL10_ENST00000467647.1_5'UTR	p.E357Q	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN		STAD - Stomach adenocarcinoma(1;0.00406)	6	1191	-			357					B4E212|Q9BTU5	Missense_Mutation	SNP	ENST00000396556.2	37	c.1069G>C	CCDS2651.1	.	.	.	.	.	.	.	.	.	.	C	8.744	0.919725	0.17982	.	.	ENSG00000144645	ENST00000396556;ENST00000438237;ENST00000428241	T;T;T	0.45668	1.92;2.23;0.89	5.33	2.39	0.29439	.	1.825470	0.02021	N	0.047764	T	0.38639	0.1048	L	0.50333	1.59	0.09310	N	1	B;B;B	0.20671	0.025;0.047;0.035	B;B;B	0.23852	0.004;0.049;0.019	T	0.21552	-1.0242	10	0.33940	T	0.23	-4.6031	3.9614	0.09412	0.2412:0.5228:0.1496:0.0864	.	293;357;125	B4E212;Q9BXB5;Q59ED9	.;OSB10_HUMAN;.	Q	357;293;165	ENSP00000379804:E357Q;ENSP00000406124:E293Q;ENSP00000399200:E165Q	ENSP00000379804:E357Q	E	-	1	0	OSBPL10	31749779	0.001000	0.12720	0.011000	0.14972	0.067000	0.16453	0.881000	0.28173	1.395000	0.46643	0.555000	0.69702	GAA		0.453	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2			18	60	0	0	0	1	0	18	60				
OR4P4	81300	broad.mit.edu	37	11	55406056	55406056	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr11:55406056G>T	ENST00000314612.2	+	1	223	c.223G>T	c.(223-225)Gtg>Ttg	p.V75L		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						CACATCCACAGTGACCCCCAA	0.408																																						ENST00000314612.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						c.(223-225)Gtg>Ttg		olfactory receptor, family 4, subfamily P, member 4							149.0	128.0	136.0					11																	55406056		2179	4030	6209	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55406056G>T	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.223G>T	11.37:g.55406056G>T	ENSP00000324831:p.Val75Leu						p.V75L	NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN			1	223	+			75						Missense_Mutation	SNP	ENST00000314612.2	37	c.223G>T	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.681604	0.29872	.	.	ENSG00000181927	ENST00000314612	T	0.01725	4.67	5.18	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37136	N	0.002223	T	0.04003	0.0112	M	0.64170	1.965	0.09310	N	1	P	0.50443	0.935	P	0.49140	0.601	T	0.36335	-0.9752	10	0.49607	T	0.09	-8.4015	8.105	0.30881	0.1722:0.0:0.8278:0.0	.	75	Q8NGL7	OR4P4_HUMAN	L	75	ENSP00000324831:V75L	ENSP00000324831:V75L	V	+	1	0	OR4P4	55162632	0.000000	0.05858	0.094000	0.20943	0.003000	0.03518	0.807000	0.27140	2.395000	0.81488	0.637000	0.83480	GTG		0.408	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		52	71	1	0	6.3008e-33	1	6.68657e-33	52	71				
GLB1L	79411	broad.mit.edu	37	2	220101997	220101997	+	Missense_Mutation	SNP	C	C	T	rs144432913		TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr2:220101997C>T	ENST00000295759.7	-	17	2075	c.1762G>A	c.(1762-1764)Gtg>Atg	p.V588M	GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000392089.2_Missense_Mutation_p.V588M|GLB1L_ENST00000409640.1_Missense_Mutation_p.V498M|GLB1L_ENST00000356283.3_Missense_Mutation_p.V498M			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	588					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AATCTTGGCACGTAGAGGGTC	0.512																																						ENST00000295759.7																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(1762-1764)Gtg>Atg		galactosidase, beta 1-like		C	MET/VAL	0,4406		0,0,2203	100.0	99.0	99.0		1762	5.4	1.0	2	dbSNP_134	99	2,8598	2.2+/-6.3	0,2,4298	yes	missense	GLB1L	NM_024506.3	21	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	588/655	220101997	2,13004	2203	4300	6503	SO:0001583	missense	79411				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr2:220101997C>T		CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.1762G>A	2.37:g.220101997C>T	ENSP00000295759:p.Val588Met					GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000409640.1_Missense_Mutation_p.V498M|GLB1L_ENST00000356283.3_Missense_Mutation_p.V498M|GLB1L_ENST00000392089.2_Missense_Mutation_p.V588M	p.V588M			Q6UWU2	GLB1L_HUMAN		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	17	2075	-		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)	588					Q96DR0	Missense_Mutation	SNP	ENST00000295759.7	37	c.1762G>A	CCDS2437.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909555	0.72868	0.0	2.33E-4	ENSG00000163521	ENST00000295759;ENST00000409640;ENST00000392089;ENST00000356283	D;D;D;D	0.97328	-4.34;-4.34;-4.34;-4.34	5.38	5.38	0.77491	Galactose-binding domain-like (1);	0.062472	0.64402	D	0.000006	D	0.98166	0.9394	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	D	0.98268	1.0502	10	0.51188	T	0.08	-19.3614	19.3333	0.94303	0.0:1.0:0.0:0.0	.	498;588	Q6UWU2-2;Q6UWU2	.;GLB1L_HUMAN	M	588;498;588;498	ENSP00000295759:V588M;ENSP00000386354:V498M;ENSP00000375939:V588M;ENSP00000348628:V498M	ENSP00000295759:V588M	V	-	1	0	GLB1L	219810241	1.000000	0.71417	0.975000	0.42487	0.977000	0.68977	7.439000	0.80444	2.793000	0.96121	0.655000	0.94253	GTG		0.512	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2	NM_024506		5	35	0	0	0	1	0	5	35				
ATRX	546	broad.mit.edu	37	X	76890125	76890125	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chrX:76890125C>T	ENST00000373344.5	-	17	4983	c.4769G>A	c.(4768-4770)tGc>tAc	p.C1590Y	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.C1552Y	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1590	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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.?(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						GGCAAGAATGCATCCTGAACC	0.358			"""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"""		1	Unknown(1)	p.?(1)	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.(4768-4770)tGc>tAc		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						179.0	174.0	176.0					X																	76890125		2203	4296	6499	SO:0001583	missense	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:76890125C>T	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.4769G>A	X.37:g.76890125C>T	ENSP00000362441:p.Cys1590Tyr					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.C1552Y	p.C1590Y	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			17	4983	-			1590			Helicase ATP-binding.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.4769G>A	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.622517	0.66787	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.93189	-3.18;-3.18	5.77	5.77	0.91146	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.98074	0.9365	H	0.96805	3.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99293	1.0899	10	0.87932	D	0	-4.0056	18.913	0.92493	0.0:1.0:0.0:0.0	.	1552;1590	P46100-4;P46100	.;ATRX_HUMAN	Y	1590;1552	ENSP00000362441:C1590Y;ENSP00000378967:C1552Y	ENSP00000362441:C1590Y	C	-	2	0	ATRX	76776781	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	7.463000	0.80869	2.414000	0.81942	0.600000	0.82982	TGC		0.358	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		42	3	0	0	0	1	0	42	3				
CDH23	64072	broad.mit.edu	37	10	73450310	73450310	+	Silent	SNP	C	C	T			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr10:73450310C>T	ENST00000224721.6	+	19	2165	c.2160C>T	c.(2158-2160)ggC>ggT	p.G720G	CDH23_ENST00000299366.7_Silent_p.G760G	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	715	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCTTGGAAGGCTCCACCCAGT	0.622																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(2158-2160)ggC>ggT		cadherin-related 23							55.0	58.0	57.0					10																	73450310		1940	4135	6075	SO:0001819	synonymous_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73450310C>T	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.2160C>T	10.37:g.73450310C>T						CDH23_ENST00000299366.7_Silent_p.G760G	p.G720G	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			19	2165	+			715			Cadherin 7.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37	c.2160C>T																																																																																					0.622	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		2	1	0	0	0	1	0	2	1				
KLHL38	340359	broad.mit.edu	37	8	124664297	124664297	+	Silent	SNP	G	G	A	rs369848638		TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr8:124664297G>A	ENST00000325995.7	-	1	893	c.870C>T	c.(868-870)ggC>ggT	p.G290G	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	290										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CCTTCCTTCCGCCCAAGAGGA	0.547																																						ENST00000325995.7																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						c.(868-870)ggC>ggT		kelch-like family member 38		G		0,4040		0,0,2020	101.0	101.0	101.0		870	-11.4	0.4	8		101	1,8377		0,1,4188	no	coding-synonymous	KLHL38	NM_001081675.2		0,1,6208	AA,AG,GG		0.0119,0.0,0.0081		290/582	124664297	1,12417	2020	4189	6209	SO:0001819	synonymous_variant	340359							g.chr8:124664297G>A		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.870C>T	8.37:g.124664297G>A						CTD-2552K11.2_ENST00000524355.1_RNA	p.G290G	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN			1	893	-			290					A0PK12	Silent	SNP	ENST00000325995.7	37	c.870C>T	CCDS43766.1																																																																																				0.547	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			75	41	0	0	0	1	0	75	41				
OGFOD3	79701	broad.mit.edu	37	17	80361821	80361821	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr17:80361821C>T	ENST00000313056.5	-	7	842	c.691G>A	c.(691-693)Gtg>Atg	p.V231M	OGFOD3_ENST00000329197.5_Missense_Mutation_p.V231M|RP13-20L14.4_ENST00000579188.1_RNA	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3	Q6PK18	OGFD3_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 3	231	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)										ACCTTGTCCACGTGCGCATGC	0.672																																						ENST00000313056.5																			0											c.(691-693)Gtg>Atg		2-oxoglutarate and iron-dependent oxygenase domain containing 3							77.0	58.0	64.0					17																	80361821		2203	4299	6502	SO:0001583	missense	79701							g.chr17:80361821C>T	BC023602	CCDS11811.1, CCDS11812.1	17q25.3	2012-10-23	2012-10-23	2012-10-23	ENSG00000181396	ENSG00000181396			26174	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 101"""	C17orf101		12477932	Standard	NM_175902		Approved	FLJ22222	uc002keu.2	Q6PK18		ENST00000313056.5:c.691G>A	17.37:g.80361821C>T	ENSP00000320116:p.Val231Met					OGFOD3_ENST00000329197.5_Missense_Mutation_p.V231M	p.V231M	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3					7	842	-								C9JDC8|Q8IZ37|Q9H6J2	Missense_Mutation	SNP	ENST00000313056.5	37	c.691G>A	CCDS11811.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.563524	0.65651	.	.	ENSG00000181396	ENST00000313056;ENST00000329197	T;T	0.61274	0.12;0.7	5.32	4.26	0.50523	Oxoglutarate/iron-dependent oxygenase (1);Prolyl 4-hydroxylase, alpha subunit (1);	0.126603	0.49916	D	0.000122	T	0.69771	0.3148	M	0.80847	2.515	0.30718	N	0.74854	D;D	0.76494	0.994;0.999	P;P	0.61132	0.845;0.884	T	0.71941	-0.4440	10	0.66056	D	0.02	-28.9181	7.2883	0.26352	0.0:0.7742:0.0:0.2258	.	231;231	Q6PK18;Q6PK18-2	CQ101_HUMAN;.	M	231	ENSP00000320116:V231M;ENSP00000330075:V231M	ENSP00000320116:V231M	V	-	1	0	C17orf101	77955110	1.000000	0.71417	0.991000	0.47740	0.755000	0.42902	2.397000	0.44477	2.482000	0.83794	0.655000	0.94253	GTG		0.672	OGFOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442895.1	NM_175902		3	6	0	0	0	1	0	3	6				
SLC43A3	29015	broad.mit.edu	37	11	57193592	57193592	+	Silent	SNP	C	C	T			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr11:57193592C>T	ENST00000395123.2	-	3	358	c.54G>A	c.(52-54)ctG>ctA	p.L18L	SLC43A3_ENST00000533524.1_Silent_p.L18L|SLC43A3_ENST00000529554.1_Silent_p.L18L|SLC43A3_ENST00000352187.1_Silent_p.L18L|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000395124.1_Silent_p.L18L	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	18					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						CCAGGCATTCCAGCAGCCCAG	0.552																																						ENST00000395123.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						c.(52-54)ctG>ctA		solute carrier family 43, member 3							83.0	86.0	85.0					11																	57193592		2201	4296	6497	SO:0001819	synonymous_variant	29015				transmembrane transport	integral to membrane		g.chr11:57193592C>T	AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"""Solute carriers"""	17466	protein-coding gene	gene with protein product	"""likely ortholog of mouse embryonic epithelial gene 1"""					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.54G>A	11.37:g.57193592C>T						SLC43A3_ENST00000533524.1_Silent_p.L18L|SLC43A3_ENST00000395124.1_Silent_p.L18L|SLC43A3_ENST00000352187.1_Silent_p.L18L|SLC43A3_ENST00000529554.1_Silent_p.L18L|SLC43A3_ENST00000528098.1_5'UTR	p.L18L	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN			3	358	-			18					B4DNR8|E7EQD2|Q9NSS4	Silent	SNP	ENST00000395123.2	37	c.54G>A	CCDS7956.1																																																																																				0.552	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611		12	88	0	0	0	1	0	12	88				
PHGDH	26227	broad.mit.edu	37	1	120263899	120263899	+	Missense_Mutation	SNP	A	A	G	rs587625944		TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr1:120263899A>G	ENST00000369409.4	+	2	381	c.245A>G	c.(244-246)aAt>aGt	p.N82S	PHGDH_ENST00000369407.3_Missense_Mutation_p.N48S	NM_006623.3	NP_006614.2	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	82					brain development (GO:0007420)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|G1 to G0 transition (GO:0070314)|gamma-aminobutyric acid metabolic process (GO:0009448)|glial cell development (GO:0021782)|glutamine metabolic process (GO:0006541)|glycine metabolic process (GO:0006544)|L-serine biosynthetic process (GO:0006564)|neural tube development (GO:0021915)|neuron projection development (GO:0031175)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|taurine metabolic process (GO:0019530)|threonine metabolic process (GO:0006566)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|phosphoglycerate dehydrogenase activity (GO:0004617)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)		GGTGTGGACAATGTGGATCTG	0.582													A|||	1	0.000199681	0.0	0.0	5008	,	,		18991	0.001		0.0	False		,,,				2504	0.0					ENST00000369407.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18						c.(142-144)aAt>aGt		phosphoglycerate dehydrogenase	NADH(DB00157)						133.0	119.0	124.0					1																	120263899		2203	4300	6503	SO:0001583	missense	26227				brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity	g.chr1:120263899A>G	BC011262	CCDS904.1	1p12	2008-02-05			ENSG00000092621	ENSG00000092621	1.1.1.95		8923	protein-coding gene	gene with protein product		606879					Standard	NM_006623		Approved	SERA, PGDH, PDG	uc001ehz.3	O43175	OTTHUMG00000012100	ENST00000369409.4:c.245A>G	1.37:g.120263899A>G	ENSP00000358417:p.Asn82Ser					PHGDH_ENST00000369409.4_Missense_Mutation_p.N82S	p.N48S			O43175	SERA_HUMAN		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	1	1650	+	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)	82					B2RD08|Q5SZU3|Q9BQ01	Missense_Mutation	SNP	ENST00000369409.4	37	c.143A>G	CCDS904.1	.	.	.	.	.	.	.	.	.	.	A	28.7	4.946731	0.92593	.	.	ENSG00000092621	ENST00000369409;ENST00000369407	D;D	0.86230	-2.09;-2.09	5.92	5.92	0.95590	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.92156	0.7513	M	0.78223	2.4	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77004	0.989;0.989	D	0.93269	0.6650	10	0.87932	D	0	-9.138	15.1874	0.73016	1.0:0.0:0.0:0.0	.	48;82	Q5SZU1;O43175	.;SERA_HUMAN	S	82;48	ENSP00000358417:N82S;ENSP00000358415:N48S	ENSP00000358415:N48S	N	+	2	0	PHGDH	120065422	1.000000	0.71417	0.938000	0.37757	0.861000	0.49209	9.113000	0.94321	2.270000	0.75569	0.459000	0.35465	AAT		0.582	PHGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033464.1	NM_006623		16	69	0	0	0	1	0	16	69				
ENTPD1	953	broad.mit.edu	37	10	97605280	97605280	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr10:97605280A>G	ENST00000371205.4	+	6	1023	c.740A>G	c.(739-741)aAt>aGt	p.N247S	ENTPD1_ENST00000371207.3_Missense_Mutation_p.N259S|ENTPD1_ENST00000453258.2_Missense_Mutation_p.N254S|ENTPD1_ENST00000543964.1_Missense_Mutation_p.N139S|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000371203.5_Missense_Mutation_p.N109S|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000539125.1_Missense_Mutation_p.N109S			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	247					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		AAGGACTACAATGTCTACACA	0.488																																						ENST00000371203.5																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16						c.(325-327)aAt>aGt		ectonucleoside triphosphate diphosphohydrolase 1							149.0	131.0	137.0					10																	97605280		2203	4300	6503	SO:0001583	missense	953				cell adhesion	integral to plasma membrane	ATP binding	g.chr10:97605280A>G	S73813	CCDS7444.1, CCDS53556.1, CCDS53557.1, CCDS53558.1, CCDS41554.1	10q24.1	2014-03-03			ENSG00000138185	ENSG00000138185		"""CD molecules"""	3363	protein-coding gene	gene with protein product		601752		CD39		9226376, 24482476	Standard	NM_001098175		Approved	NTPDase-1, ATPDase, SPG64	uc010qoj.2	P49961	OTTHUMG00000018818	ENST00000371205.4:c.740A>G	10.37:g.97605280A>G	ENSP00000360248:p.Asn247Ser					ENTPD1_ENST00000453258.2_Missense_Mutation_p.N254S|ENTPD1_ENST00000371205.4_Missense_Mutation_p.N247S|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000371207.3_Missense_Mutation_p.N259S|ENTPD1_ENST00000543964.1_Missense_Mutation_p.N139S|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000539125.1_Missense_Mutation_p.N109S	p.N109S	NM_001164179.1|NM_001164182.1|NM_001776.5	NP_001157651.1|NP_001157654.1|NP_001767.3	P49961	ENTP1_HUMAN		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)	5	913	+		Colorectal(252;0.0821)	247					A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	Missense_Mutation	SNP	ENST00000371205.4	37	c.326A>G	CCDS7444.1	.	.	.	.	.	.	.	.	.	.	A	0.012	-1.679339	0.00751	.	.	ENSG00000138185	ENST00000453258;ENST00000371206;ENST00000371207;ENST00000543964;ENST00000539125;ENST00000371203;ENST00000371205	T;T;T;T;T;T	0.11821	2.74;2.74;2.74;2.74;2.74;2.74	5.41	-8.75	0.00834	.	1.673390	0.02348	N	0.075651	T	0.02888	0.0086	N	0.01352	-0.895	0.09310	N	1	B;B;B;B;B	0.11235	0.003;0.002;0.004;0.003;0.001	B;B;B;B;B	0.12156	0.007;0.004;0.006;0.007;0.002	T	0.32134	-0.9918	10	0.02654	T	1	1.3172	3.7537	0.08576	0.4274:0.3209:0.1701:0.0817	.	259;259;254;247;254	B4DWB9;G3XAF6;P49961-2;P49961;P49961-3	.;.;.;ENTP1_HUMAN;.	S	254;254;259;139;109;109;247	ENSP00000390955:N254S;ENSP00000360250:N259S;ENSP00000442968:N139S;ENSP00000440027:N109S;ENSP00000360246:N109S;ENSP00000360248:N247S	ENSP00000360246:N109S	N	+	2	0	ENTPD1	97595270	0.000000	0.05858	0.000000	0.03702	0.158000	0.22134	-1.092000	0.03366	-1.495000	0.01831	-0.353000	0.07706	AAT		0.488	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049566.1	NM_001776		39	44	0	0	0	1	0	39	44				
RAD50	10111	broad.mit.edu	37	5	131972886	131972886	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr5:131972886G>A	ENST00000265335.6	+	22	3856	c.3469G>A	c.(3469-3471)Gga>Aga	p.G1157R	RAD50_ENST00000378823.3_Missense_Mutation_p.G1018R|AC004041.2_ENST00000435042.1_RNA|AC004041.2_ENST00000417516.1_RNA|AC004041.2_ENST00000458509.1_RNA|AC004041.2_ENST00000457489.1_RNA			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	1157					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TACCTATCGTGGACAAGGTGA	0.433								Homologous recombination																														ENST00000378823.3																			0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(3052-3054)Gga>Aga	Homologous recombination	RAD50 homolog (S. cerevisiae)							230.0	239.0	236.0					5																	131972886		2203	4300	6503	SO:0001583	missense	10111				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	g.chr5:131972886G>A	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.3469G>A	5.37:g.131972886G>A	ENSP00000265335:p.Gly1157Arg					AC004041.2_ENST00000457489.1_RNA|RAD50_ENST00000265335.6_Missense_Mutation_p.G1157R	p.G1018R	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		22	3870	+		all_cancers(142;0.0368)|Breast(839;0.198)	1157					B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	c.3052G>A	CCDS34233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.5|21.5	4.161295|4.161295	0.78226|0.78226	.|.	.|.	ENSG00000113522|ENSG00000113522	ENST00000378823;ENST00000265335|ENST00000455677	T;T|.	0.03441|.	3.93;3.93|.	5.89|5.89	5.89|5.89	0.94794|0.94794	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.86623|.	0.5977|.	M|M	0.91140|0.91140	3.18|3.18	0.80722|0.80722	D|D	1|1	D|.	0.67145|.	0.996|.	D|.	0.68192|.	0.956|.	D|.	0.88206|.	0.2887|.	10|.	0.87932|.	D|.	0|.	-24.2032|-24.2032	20.2447|20.2447	0.98397|0.98397	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1157|.	Q92878|.	RAD50_HUMAN|.	R|X	1018;1157|35	ENSP00000368100:G1018R;ENSP00000265335:G1157R|.	ENSP00000265335:G1157R|.	G|W	+|+	1|2	0|0	RAD50|RAD50	132000785|132000785	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.426000|0.426000	0.31534|0.31534	9.458000|9.458000	0.97634|0.97634	2.790000|2.790000	0.95986|0.95986	0.609000|0.609000	0.83330|0.83330	GGA|TGG		0.433	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		75	112	0	0	0	1	0	75	112				
ARHGAP18	93663	broad.mit.edu	37	6	129929056	129929056	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr6:129929056C>G	ENST00000368149.2	-	9	1352	c.1264G>C	c.(1264-1266)Gcc>Ccc	p.A422P		NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		GCCTGAAAGGCTTTGAGATAC	0.468																																						ENST00000368149.2																			0				NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18						c.(1264-1266)Gcc>Ccc		Rho GTPase activating protein 18							94.0	90.0	91.0					6																	129929056		2203	4300	6503	SO:0001583	missense	93663				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr6:129929056C>G	AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"""Rho GTPase activating proteins"""	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.1264G>C	6.37:g.129929056C>G	ENSP00000357131:p.Ala422Pro						p.A422P	NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)	9	1352	-			422			Rho-GAP.			Missense_Mutation	SNP	ENST00000368149.2	37	c.1264G>C	CCDS34535.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.867557	0.91587	.	.	ENSG00000146376	ENST00000368149;ENST00000275189	.	.	.	5.87	5.01	0.66863	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.046596	0.85682	D	0.000000	T	0.76528	0.4000	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	1.0;0.974	D;D	0.87578	0.998;0.932	T	0.80856	-0.1195	8	.	.	.	.	15.2995	0.73936	0.0:0.9331:0.0:0.0669	.	422;422	A9UK01;Q8N392	.;RHG18_HUMAN	P	377;422	.	.	A	-	1	0	ARHGAP18	129970749	1.000000	0.71417	0.958000	0.39756	0.959000	0.62525	6.015000	0.70791	1.635000	0.50512	0.655000	0.94253	GCC		0.468	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515		24	17	0	0	0	1	0	24	17				
LRP1	4035	broad.mit.edu	37	12	57586737	57586737	+	Missense_Mutation	SNP	T	T	A			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr12:57586737T>A	ENST00000243077.3	+	45	8005	c.7539T>A	c.(7537-7539)gaT>gaA	p.D2513E	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2513	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCCTCCAGGATGACCTCACCT	0.642																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(7537-7539)gaT>gaA		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						71.0	58.0	62.0					12																	57586737		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57586737T>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.7539T>A	12.37:g.57586737T>A	ENSP00000243077:p.Asp2513Glu						p.D2513E	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	45	8005	+			2513			EGF-like 10.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.7539T>A	CCDS8932.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.13|10.13	1.264812|1.264812	0.23136|0.23136	.|.	.|.	ENSG00000123384|ENSG00000123384	ENST00000243077|ENST00000554118	D|.	0.87887|.	-2.31|.	4.3|4.3	-2.73|-2.73	0.05950|0.05950	Epidermal growth factor-like (1);|.	0.346963|.	0.25219|.	N|.	0.032247|.	T|.	0.33147|.	0.0853|.	L|L	0.28504|0.28504	0.86|0.86	0.80722|0.80722	D|D	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|.	0.25676|.	-1.0125|.	10|.	0.02654|.	T|.	1|.	.|.	0.2772|0.2772	0.00240|0.00240	0.231:0.2211:0.2013:0.3466|0.231:0.2211:0.2013:0.3466	.|.	2513|.	Q07954|.	LRP1_HUMAN|.	E|R	2513|135	ENSP00000243077:D2513E|.	ENSP00000243077:D2513E|.	D|X	+|+	3|1	2|0	LRP1|LRP1	55873004|55873004	0.004000|0.004000	0.15560|0.15560	0.870000|0.870000	0.34147|0.34147	0.982000|0.982000	0.71751|0.71751	-1.332000|-1.332000	0.02670|0.02670	-0.391000|-0.391000	0.07763|0.07763	-0.505000|-0.505000	0.04504|0.04504	GAT|TGA		0.642	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		14	34	0	0	0	1	0	14	34				
COL7A1	1294	broad.mit.edu	37	3	48618703	48618703	+	Missense_Mutation	SNP	C	C	T	rs201196696		TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr3:48618703C>T	ENST00000328333.8	-	51	4996	c.4889G>A	c.(4888-4890)cGa>cAa	p.R1630Q	COL7A1_ENST00000454817.1_Missense_Mutation_p.R1630Q|MIR711_ENST00000390201.1_RNA	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1630	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATCTCGTCCTCGGGGGCCAAC	0.642													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17576	0.0		0.0	False		,,,				2504	0.0					ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(4888-4890)cGa>cAa		collagen, type VII, alpha 1																																				SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48618703C>T	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.4889G>A	3.37:g.48618703C>T	ENSP00000332371:p.Arg1630Gln					COL7A1_ENST00000454817.1_Missense_Mutation_p.R1630Q	p.R1630Q	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	51	4996	-			1630			Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.4889G>A	CCDS2773.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	15.60	2.882060	0.51908	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.93307	-3.2;-3.2	5.61	4.74	0.60224	.	0.000000	0.37761	N	0.001944	D	0.88948	0.6576	L	0.31926	0.97	0.32677	N	0.516033	P	0.42123	0.771	B	0.42138	0.377	D	0.88712	0.3223	10	0.23302	T	0.38	.	11.701	0.51571	0.0:0.9188:0.0:0.0812	.	1630	Q02388	CO7A1_HUMAN	Q	1630	ENSP00000332371:R1630Q;ENSP00000412569:R1630Q	ENSP00000332371:R1630Q	R	-	2	0	COL7A1	48593707	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.897000	0.39799	1.367000	0.46095	0.655000	0.94253	CGA		0.642	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		3	21	0	0	0	1	0	3	21				
FAT1	2195	broad.mit.edu	37	4	187530420	187530420	+	Missense_Mutation	SNP	T	T	G			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr4:187530420T>G	ENST00000441802.2	-	16	10332	c.10123A>C	c.(10123-10125)Ata>Cta	p.I3375L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3375	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTGCCATCTATAATTGAGTAG	0.488										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(10123-10125)Ata>Cta		FAT atypical cadherin 1							127.0	122.0	124.0					4																	187530420		1932	4137	6069	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187530420T>G	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.10123A>C	4.37:g.187530420T>G	ENSP00000406229:p.Ile3375Leu	HNSCC(5;0.00058)					p.I3375L	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			16	10332	-			3375			Cadherin 31.			Missense_Mutation	SNP	ENST00000441802.2	37	c.10123A>C	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	T	12.03	1.815059	0.32053	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.42131	0.98	5.35	1.66	0.24008	Cadherin (4);Cadherin-like (1);	0.287896	0.40640	N	0.001042	T	0.21921	0.0528	N	0.05487	-0.04	0.30493	N	0.771152	B	0.22414	0.069	B	0.34093	0.175	T	0.30650	-0.9971	10	0.12430	T	0.62	.	8.888	0.35416	0.0:0.2146:0.0:0.7854	.	3375	Q14517	FAT1_HUMAN	L	3375;3377	ENSP00000406229:I3375L	ENSP00000260147:I3377L	I	-	1	0	FAT1	187767414	1.000000	0.71417	0.589000	0.28718	0.249000	0.25844	1.745000	0.38278	0.352000	0.24053	-0.264000	0.10439	ATA		0.488	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		11	13	0	0	0	1	0	11	13				
FANCD2	2177	broad.mit.edu	37	3	10136015	10136015	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr3:10136015C>T	ENST00000419585.1	+	40	4092	c.3931C>T	c.(3931-3933)Ccg>Tcg	p.P1311S	FANCD2_ENST00000383806.1_3'UTR|FANCD2OS_ENST00000524279.1_Intron|FANCD2OS_ENST00000436517.1_Intron|FANCD2_ENST00000287647.3_Missense_Mutation_p.P1311S|FANCD2_ENST00000383807.1_Missense_Mutation_p.P1311S			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1311					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GCAATGTATGCCGCTCCTAGA	0.458			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""D, Mis, N, F"""	"""Fanconi anemia, complementation group D2"""			L		"""AML, leukemia"""			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(3931-3933)Ccg>Tcg	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							244.0	257.0	253.0					3																	10136015		2203	4300	6503	SO:0001583	missense	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10136015C>T	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.3931C>T	3.37:g.10136015C>T	ENSP00000398754:p.Pro1311Ser					FANCD2_ENST00000383806.1_3'UTR|FANCD2OS_ENST00000436517.1_Intron|FANCD2_ENST00000383807.1_Missense_Mutation_p.P1311S|FANCD2_ENST00000419585.1_Missense_Mutation_p.P1311S|FANCD2OS_ENST00000524279.1_Intron	p.P1311S	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	40	4024	+			1311					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.3931C>T	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665905	0.88251	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000419585	T;T;T	0.62788	-0.0;-0.0;-0.0	5.8	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.79341	0.4429	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81022	-0.1121	10	0.49607	T	0.09	.	12.6777	0.56903	0.0:0.9205:0.0:0.0795	.	1311;1311	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	S	1311	ENSP00000287647:P1311S;ENSP00000373318:P1311S;ENSP00000398754:P1311S	ENSP00000287647:P1311S	P	+	1	0	FANCD2	10111015	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	7.360000	0.79487	1.478000	0.48253	0.644000	0.83932	CCG		0.458	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			4	250	0	0	0	1	0	4	250				
DEPDC5	9681	broad.mit.edu	37	22	32266690	32266690	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr22:32266690G>A	ENST00000382112.3	+	33	3488	c.3418G>A	c.(3418-3420)Gga>Aga	p.G1140R	DEPDC5_ENST00000400248.2_Missense_Mutation_p.G1118R|DEPDC5_ENST00000382105.2_Missense_Mutation_p.G1071R|DEPDC5_ENST00000494060.1_3'UTR|DEPDC5_ENST00000539165.1_5'UTR|DEPDC5_ENST00000535622.1_Missense_Mutation_p.G1049R|DEPDC5_ENST00000266091.3_Missense_Mutation_p.G1127R|DEPDC5_ENST00000400249.2_Missense_Mutation_p.G1118R|DEPDC5_ENST00000382111.2_Missense_Mutation_p.G1149R|DEPDC5_ENST00000400246.1_Missense_Mutation_p.G1149R	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1149					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CCAGAACATAGGAGAACAGGG	0.532																																						ENST00000400246.1																			0				breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(3445-3447)Gga>Aga		DEP domain containing 5							95.0	97.0	96.0					22																	32266690		1987	4181	6168	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32266690G>A	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.3418G>A	22.37:g.32266690G>A	ENSP00000371546:p.Gly1140Arg					DEPDC5_ENST00000266091.3_Missense_Mutation_p.G1127R|DEPDC5_ENST00000539165.1_5'UTR|DEPDC5_ENST00000535622.1_Missense_Mutation_p.G1049R|DEPDC5_ENST00000400248.1_Missense_Mutation_p.G1118R|DEPDC5_ENST00000400249.2_Missense_Mutation_p.G1118R|DEPDC5_ENST00000494060.1_3'UTR|DEPDC5_ENST00000382105.2_Missense_Mutation_p.G1071R|DEPDC5_ENST00000382111.2_Missense_Mutation_p.G1149R|DEPDC5_ENST00000382112.3_Missense_Mutation_p.G1140R	p.G1149R			O75140	DEPD5_HUMAN			34	3587	+			1118					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.3445G>A	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.87|15.87	2.962100|2.962100	0.53400|0.53400	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248|ENST00000433147	T;T;T;T;T;T;T;T|.	0.30714|.	1.58;2.0;2.0;1.96;1.52;1.98;1.96;2.0|.	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	0.373530|.	0.25427|.	N|.	0.030743|.	T|T	0.42154|0.42154	0.1190|0.1190	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	D;B;B;P;B;B;B|.	0.59357|.	0.985;0.047;0.257;0.685;0.078;0.047;0.019|.	P;B;B;B;B;B;B|.	0.61477|.	0.889;0.034;0.143;0.296;0.054;0.05;0.017|.	T|T	0.23332|0.23332	-1.0191|-1.0191	10|5	0.44086|.	T|.	0.13|.	.|.	9.9812|9.9812	0.41815|0.41815	0.094:0.0:0.906:0.0|0.094:0.0:0.906:0.0	.|.	470;1149;1049;535;1127;1140;1118|.	B4DSS1;B9EGN9;B4DH93;O75140-7;O75140-4;A8MPX9;O75140|.	.;.;.;.;.;.;DEPD5_HUMAN|.	R|K	1049;1127;1118;1049;1149;1071;1140;1149;1118|524	ENSP00000440210:G1049R;ENSP00000266091:G1127R;ENSP00000383108:G1118R;ENSP00000383105:G1149R;ENSP00000371539:G1071R;ENSP00000371546:G1140R;ENSP00000371545:G1149R;ENSP00000383107:G1118R|.	ENSP00000266091:G1127R|.	G|R	+|+	1|2	0|0	DEPDC5|DEPDC5	30596690|30596690	0.999000|0.999000	0.42202|0.42202	0.950000|0.950000	0.38849|0.38849	0.997000|0.997000	0.91878|0.91878	3.614000|3.614000	0.54160|0.54160	2.514000|2.514000	0.84764|0.84764	0.655000|0.655000	0.94253|0.94253	GGA|AGG		0.532	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		10	28	0	0	0	1	0	10	28				
TRAV7	28686	broad.mit.edu	37	14	22251215	22251215	+	RNA	SNP	G	G	A			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr14:22251215G>A	ENST00000390429.3	+	0	6				AE000659.1_ENST00000410844.1_RNA					T cell receptor alpha variable 7																		TCAGGATGGAGAAGATGCGGA	0.358																																						ENST00000390429.3																			0																				124.0	116.0	118.0					14																	22251215		1828	4088	5916			0							g.chr14:22251215G>A	AE000659		14q11.2	2012-02-07			ENSG00000211781	ENSG00000211781		"""T cell receptors / TRA locus"""	12145	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000168985		14.37:g.22251215G>A														0	6	+									RNA	SNP	ENST00000390429.3	37																																																																																						0.358	TRAV7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401883.1	NG_001332		8	15	0	0	0	1	0	8	15				
IGHV3-21	28444	broad.mit.edu	37	14	106691787	106691787	+	RNA	SNP	G	G	A	rs368900048		TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr14:106691787G>A	ENST00000390607.2	-	0	315									immunoglobulin heavy variable 3-21																		CTGAGTCTGCGTAGTATATGT	0.517																																						ENST00000390607.2																			0															G		0,3908		0,0,1954	172.0	163.0	166.0			-5.1	0.0	14		166	1,8269		0,1,4134	no	intergenic				0,1,6088	AA,AG,GG		0.0121,0.0,0.0082			106691787	1,12177	1954	4135	6089			0							g.chr14:106691787G>A	Z14073		14q32.33	2012-02-08			ENSG00000211947	ENSG00000211947		"""Immunoglobulins / IGH locus"""	5586	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152279		14.37:g.106691787G>A														0	315	-									RNA	SNP	ENST00000390607.2	37																																																																																						0.517	IGHV3-21-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325667.1	NG_001019		53	55	0	0	0	1	0	53	55				
RAMP3	10268	broad.mit.edu	37	7	45222877	45222877	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr7:45222877A>G	ENST00000242249.4	+	3	351	c.313A>G	c.(313-315)Acc>Gcc	p.T105A	RAMP3_ENST00000496212.1_Missense_Mutation_p.T105A|RAMP3_ENST00000481345.1_Missense_Mutation_p.T105A	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	105					calcium ion transport (GO:0006816)|cellular response to estradiol stimulus (GO:0071392)|G-protein coupled receptor signaling pathway involved in heart process (GO:0086103)|intracellular protein transport (GO:0006886)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of receptor recycling (GO:0001921)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	CTCCAACTGCACCGTGGACAG	0.622																																						ENST00000242249.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11						c.(313-315)Acc>Gcc		receptor (G protein-coupled) activity modifying protein 3	Pramlintide(DB01278)						97.0	96.0	96.0					7																	45222877		2203	4300	6503	SO:0001583	missense	10268				intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity	g.chr7:45222877A>G	AJ001016	CCDS5503.1	7p13-p12	2006-11-21	2006-11-21		ENSG00000122679	ENSG00000122679		"""Receptor (G protein-coupled) activity modifying proteins"""	9845	protein-coding gene	gene with protein product		605155	"""receptor activity modifying protein 3"", ""receptor (calcitonin) activity modifying protein 3"""				Standard	NM_005856		Approved		uc003tnb.3	O60896	OTTHUMG00000023729	ENST00000242249.4:c.313A>G	7.37:g.45222877A>G	ENSP00000242249:p.Thr105Ala					RAMP3_ENST00000481345.1_Missense_Mutation_p.T105A|RAMP3_ENST00000496212.1_Missense_Mutation_p.T105A	p.T105A	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN			3	351	+			105					Q7Z2Y1	Missense_Mutation	SNP	ENST00000242249.4	37	c.313A>G	CCDS5503.1	.	.	.	.	.	.	.	.	.	.	A	10.45	1.354868	0.24512	.	.	ENSG00000122679	ENST00000242249;ENST00000481345;ENST00000496212	T;T;T	0.41065	1.01;1.01;1.01	4.37	1.85	0.25348	.	0.231983	0.42420	D	0.000712	T	0.39682	0.1087	L	0.46947	1.48	0.40674	D	0.982244	P	0.47604	0.898	P	0.49192	0.602	T	0.11155	-1.0599	10	0.34782	T	0.22	-35.7831	7.8359	0.29369	0.4726:0.0:0.0:0.5273	.	105	O60896	RAMP3_HUMAN	A	105	ENSP00000242249:T105A;ENSP00000419012:T105A;ENSP00000418460:T105A	ENSP00000242249:T105A	T	+	1	0	RAMP3	45189402	1.000000	0.71417	0.670000	0.29842	0.233000	0.25261	2.371000	0.44248	0.069000	0.16605	-0.327000	0.08410	ACC		0.622	RAMP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251343.1	NM_005856		39	50	0	0	0	1	0	39	50				
CLEC4D	338339	broad.mit.edu	37	12	8673742	8673742	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr12:8673742G>A	ENST00000299665.2	+	6	716	c.523G>A	c.(523-525)Gac>Aac	p.D175N		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	175	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					GAATGAACCCGACAACTCTCA	0.338																																						ENST00000299665.2																			0				large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						c.(523-525)Gac>Aac		C-type lectin domain family 4, member D							128.0	122.0	124.0					12																	8673742		2203	4300	6503	SO:0001583	missense	338339				innate immune response	integral to membrane	sugar binding	g.chr12:8673742G>A	AF411850	CCDS8593.1	12p13.31	2005-09-21	2005-02-09	2005-02-11		ENSG00000166527		"""C-type lectin domain containing"""	14554	protein-coding gene	gene with protein product		609964	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 8"""	CLECSF8			Standard	NM_080387		Approved	Mpcl	uc001qun.3	Q8WXI8		ENST00000299665.2:c.523G>A	12.37:g.8673742G>A	ENSP00000299665:p.Asp175Asn						p.D175N	NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN			6	716	+	Lung SC(5;0.184)		175			C-type lectin.		Q8N5J5	Missense_Mutation	SNP	ENST00000299665.2	37	c.523G>A	CCDS8593.1	.	.	.	.	.	.	.	.	.	.	G	0.063	-1.219542	0.01542	.	.	ENSG00000166527	ENST00000299665	T	0.16743	2.32	4.22	1.84	0.25277	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.02970	0.0088	N	0.00355	-1.605	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42498	-0.9448	9	0.02654	T	1	.	4.4983	0.11851	0.6996:0.1979:0.1025:0.0	.	175	Q8WXI8	CLC4D_HUMAN	N	175	ENSP00000299665:D175N	ENSP00000299665:D175N	D	+	1	0	CLEC4D	8565009	0.004000	0.15560	0.038000	0.18304	0.007000	0.05969	0.951000	0.29135	0.401000	0.25424	-0.255000	0.11280	GAC		0.338	CLEC4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400565.1	NM_080387		19	22	0	0	0	1	0	19	22				
RNF26	79102	broad.mit.edu	37	11	119206053	119206053	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr11:119206053G>T	ENST00000311413.4	+	1	817	c.221G>T	c.(220-222)cGg>cTg	p.R74L	RP11-334E6.10_ENST00000501918.2_RNA	NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN	ring finger protein 26	74						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		GCCGTGGTCCGGTTCACATGT	0.587																																						ENST00000311413.4																			0				cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12						c.(220-222)cGg>cTg		ring finger protein 26							161.0	147.0	151.0					11																	119206053		2199	4295	6494	SO:0001583	missense	79102						zinc ion binding	g.chr11:119206053G>T	AB055622	CCDS8419.1	11q23	2008-07-21				ENSG00000173456		"""RING-type (C3HC4) zinc fingers"""	14646	protein-coding gene	gene with protein product	"""ring finger protein with leucine zipper"""	606130				11352657	Standard	NM_032015		Approved	MGC2642	uc001pwh.3	Q9BY78		ENST00000311413.4:c.221G>T	11.37:g.119206053G>T	ENSP00000312439:p.Arg74Leu						p.R74L	NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)	1	817	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	74			Leu-rich.		Q542Y8	Missense_Mutation	SNP	ENST00000311413.4	37	c.221G>T	CCDS8419.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.322378	0.60634	.	.	ENSG00000173456	ENST00000311413	T	0.30981	1.51	5.25	4.34	0.51931	.	0.488759	0.19373	N	0.115848	T	0.18002	0.0432	N	0.14661	0.345	0.09310	N	1	B	0.20887	0.049	B	0.14578	0.011	T	0.15263	-1.0443	10	0.59425	D	0.04	-0.3095	8.6671	0.34127	0.0815:0.1535:0.7649:0.0	.	74	Q9BY78	RNF26_HUMAN	L	74	ENSP00000312439:R74L	ENSP00000312439:R74L	R	+	2	0	RNF26	118711263	0.006000	0.16342	0.222000	0.23844	0.941000	0.58515	1.661000	0.37408	1.211000	0.43351	0.655000	0.94253	CGG		0.587	RNF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388220.1	NM_032015		41	110	1	0	7.63091e-17	1	7.93615e-17	41	110				
ANLN	54443	broad.mit.edu	37	7	36462334	36462334	+	Missense_Mutation	SNP	A	A	G	rs530432252		TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr7:36462334A>G	ENST00000265748.2	+	14	2613	c.2392A>G	c.(2392-2394)Atg>Gtg	p.M798V	ANLN_ENST00000396068.2_Missense_Mutation_p.M761V	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	798	Localization to the cleavage furrow.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AAGTGAATTTATGCCATCCAA	0.398													A|||	1	0.000199681	0.0	0.0	5008	,	,		17301	0.0		0.0	False		,,,				2504	0.001					ENST00000265748.2																			0				breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						c.(2392-2394)Atg>Gtg		anillin, actin binding protein							193.0	191.0	192.0					7																	36462334		2203	4300	6503	SO:0001583	missense	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36462334A>G	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.2392A>G	7.37:g.36462334A>G	ENSP00000265748:p.Met798Val					ANLN_ENST00000396068.2_Missense_Mutation_p.M761V	p.M798V	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN			14	2613	+			798			Localization to the cleavage furrow.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	c.2392A>G	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	A	0.485	-0.878229	0.02550	.	.	ENSG00000011426	ENST00000265748;ENST00000396068	T;T	0.10960	2.84;2.82	5.96	3.11	0.35812	.	0.415653	0.28853	N	0.013924	T	0.03695	0.0105	N	0.08118	0	0.22479	N	0.999064	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.45249	-0.9274	10	0.02654	T	1	-1.349	4.4859	0.11790	0.1409:0.1226:0.6099:0.1266	.	675;760;761;798	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.;.;.;ANLN_HUMAN	V	798;761	ENSP00000265748:M798V;ENSP00000379380:M761V	ENSP00000265748:M798V	M	+	1	0	ANLN	36428859	0.012000	0.17670	0.990000	0.47175	0.647000	0.38526	0.345000	0.19979	0.369000	0.24510	-0.472000	0.04984	ATG		0.398	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		36	49	0	0	0	1	0	36	49				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	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			17	15	0	0	0	1	0	17	15				
MUC5B	727897	broad.mit.edu	37	11	1272726	1272726	+	Silent	SNP	A	A	T			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr11:1272726A>T	ENST00000529681.1	+	31	14674	c.14616A>T	c.(14614-14616)ggA>ggT	p.G4872G	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.G4875G	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4872	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACTCTGGGAACAGCTCACA	0.662																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(14623-14625)ggA>ggT		mucin 5B, oligomeric mucus/gel-forming							62.0	81.0	75.0					11																	1272726		2140	4233	6373	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1272726A>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14616A>T	11.37:g.1272726A>T						MUC5B_ENST00000529681.1_Silent_p.G4872G	p.G4875G			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	14683	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4872			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.14625A>T	CCDS44515.2																																																																																				0.662	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		25	26	0	0	0	1	0	25	26				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		3	29	0	0	0	1	0	3	29				
ATP10A	57194	broad.mit.edu	37	15	25932867	25932867	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr15:25932867A>G	ENST00000356865.6	-	16	3385	c.3274T>C	c.(3274-3276)Ttc>Ctc	p.F1092L		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1092					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TTGTAGAAGAAGTACAGCACC	0.498																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(3274-3276)Ttc>Ctc		ATPase, class V, type 10A							153.0	144.0	147.0					15																	25932867		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25932867A>G	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.3274T>C	15.37:g.25932867A>G	ENSP00000349325:p.Phe1092Leu						p.F1092L	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	16	3385	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	1092					Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.3274T>C	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.793721	0.90453	.	.	ENSG00000206190	ENST00000356865;ENST00000555756	T;T	0.71579	0.47;-0.58	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.85292	0.5663	M	0.90650	3.135	0.80722	D	1	D	0.59357	0.985	P	0.60012	0.867	D	0.88527	0.3100	10	0.72032	D	0.01	-41.4459	15.6637	0.77209	1.0:0.0:0.0:0.0	.	1092	O60312	AT10A_HUMAN	L	1092;121	ENSP00000349325:F1092L;ENSP00000451615:F121L	ENSP00000349325:F1092L	F	-	1	0	ATP10A	23483960	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.029000	0.93718	2.095000	0.63458	0.533000	0.62120	TTC		0.498	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		29	56	0	0	0	1	0	29	56				
APOE	348	broad.mit.edu	37	19	45411116	45411116	+	Missense_Mutation	SNP	T	T	G			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr19:45411116T>G	ENST00000252486.4	+	3	254	c.143T>G	c.(142-144)cTg>cGg	p.L48R		NM_000041.2	NP_000032.1	P02649	APOE_HUMAN	apolipoprotein E	48					aging (GO:0007568)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|artery morphogenesis (GO:0048844)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cGMP-mediated signaling (GO:0019934)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|cytoskeleton organization (GO:0007010)|fatty acid homeostasis (GO:0055089)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular transport (GO:0046907)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle remodeling (GO:0034374)|maintenance of location in cell (GO:0051651)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of blood coagulation (GO:0030195)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cholesterol biosynthetic process (GO:0045541)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of dendritic spine development (GO:0061000)|negative regulation of dendritic spine maintenance (GO:1902951)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of inflammatory response (GO:0050728)|negative regulation of lipid biosynthetic process (GO:0051055)|negative regulation of lipid transport across blood brain barrier (GO:1903001)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of phospholipid efflux (GO:1902999)|negative regulation of platelet activation (GO:0010544)|negative regulation of postsynaptic membrane organization (GO:1901627)|negative regulation of presynaptic membrane organization (GO:1901630)|nitric oxide mediated signal transduction (GO:0007263)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system axon regeneration (GO:0014012)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of axon extension (GO:0045773)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of dendritic spine maintenance (GO:1902952)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of lipid transport across blood brain barrier (GO:1903002)|positive regulation of low-density lipoprotein particle receptor catabolic process (GO:0032805)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipid efflux (GO:1902995)|positive regulation of postsynaptic membrane organization (GO:1901628)|positive regulation of presynaptic membrane organization (GO:1901631)|protein import (GO:0017038)|receptor-mediated endocytosis (GO:0006898)|regulation of axon extension (GO:0030516)|regulation of beta-amyloid clearance (GO:1900221)|regulation of Cdc42 protein signal transduction (GO:0032489)|regulation of neuron death (GO:1901214)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of tau-protein kinase activity (GO:1902947)|response to dietary excess (GO:0002021)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)|response to retinoic acid (GO:0032526)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|triglyceride metabolic process (GO:0006641)|vasodilation (GO:0042311)|very-low-density lipoprotein particle clearance (GO:0034447)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|high-density lipoprotein particle (GO:0034364)|intermediate-density lipoprotein particle (GO:0034363)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)|vesicle (GO:0031982)	antioxidant activity (GO:0016209)|beta-amyloid binding (GO:0001540)|cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle receptor binding (GO:0050750)|metal chelating activity (GO:0046911)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)|tau protein binding (GO:0048156)|very-low-density lipoprotein particle receptor binding (GO:0070326)			large_intestine(1)|lung(2)|prostate(1)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GAACTGGCACTGGGTCGCTTT	0.652																																						ENST00000252486.4																			0				large_intestine(1)|lung(2)|prostate(1)	4						c.(142-144)cTg>cGg		apolipoprotein E	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						43.0	42.0	42.0					19																	45411116		2203	4300	6503	SO:0001583	missense	348				anti-apoptosis|Cdc42 protein signal transduction|cell death|cGMP-mediated signaling|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|cytoskeleton organization|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|induction of apoptosis|intracellular transport|negative regulation of blood vessel endothelial cell migration|negative regulation of cholesterol biosynthetic process|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of platelet activation|nitric oxide mediated signal transduction|phospholipid efflux|positive regulation of cGMP biosynthetic process|positive regulation of cholesterol efflux|positive regulation of cholesterol esterification|positive regulation of low-density lipoprotein particle receptor catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric-oxide synthase activity|receptor-mediated endocytosis|regulation of axon extension|regulation of neuronal synaptic plasticity|response to reactive oxygen species|reverse cholesterol transport|synaptic transmission, cholinergic|triglyceride metabolic process|very-low-density lipoprotein particle clearance|very-low-density lipoprotein particle remodeling	chylomicron|dendrite|high-density lipoprotein particle|intermediate-density lipoprotein particle|low-density lipoprotein particle|neuronal cell body|very-low-density lipoprotein particle	antioxidant activity|beta-amyloid binding|heparin binding|low-density lipoprotein particle receptor binding|metal chelating activity|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding|protein heterodimerization activity|protein homodimerization activity|tau protein binding|very-low-density lipoprotein particle receptor binding	g.chr19:45411116T>G	K00396	CCDS12647.1	19q13.31	2013-01-24			ENSG00000130203	ENSG00000130203		"""Apolipoproteins"""	613	protein-coding gene	gene with protein product		107741	"""Alzheimer disease 2 (APOE*E4-associated, late onset)"""	AD2		10662539	Standard	NM_000041		Approved		uc002pab.3	P02649	OTTHUMG00000128901	ENST00000252486.4:c.143T>G	19.37:g.45411116T>G	ENSP00000252486:p.Leu48Arg						p.L48R	NM_000041.2	NP_000032.1	P02649	APOE_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	3	254	+	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)	48					B2RC15|C0JYY5|Q9P2S4	Missense_Mutation	SNP	ENST00000252486.4	37	c.143T>G	CCDS12647.1	.	.	.	.	.	.	.	.	.	.	T	15.06	2.722594	0.48728	.	.	ENSG00000130203	ENST00000252486;ENST00000446996;ENST00000434152;ENST00000425718	T;T;T	0.81330	-1.48;-1.48;-1.48	4.85	4.85	0.62838	Apolipoprotein/apolipophorin (1);	0.472534	0.17562	N	0.169795	D	0.87842	0.6279	M	0.81802	2.56	0.36580	D	0.873501	D	0.69078	0.997	P	0.61592	0.891	D	0.90886	0.4757	10	0.72032	D	0.01	-11.6878	11.1147	0.48254	0.0:0.0:0.0:1.0	.	48	P02649	APOE_HUMAN	R	48;48;93;48	ENSP00000252486:L48R;ENSP00000413135:L48R;ENSP00000410423:L48R	ENSP00000252486:L48R	L	+	2	0	APOE	50102956	0.923000	0.31300	0.045000	0.18777	0.051000	0.14879	3.688000	0.54699	1.952000	0.56665	0.459000	0.35465	CTG		0.652	APOE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250865.2	NM_000041		11	16	0	0	0	1	0	11	16				
LUZP2	338645	broad.mit.edu	37	11	24753686	24753686	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr11:24753686C>G	ENST00000336930.6	+	3	269	c.203C>G	c.(202-204)tCt>tGt	p.S68C	LUZP2_ENST00000533227.1_5'UTR|LUZP2_ENST00000531187.1_3'UTR			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	68						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						GATGAGCAGTCTGCCAAAACT	0.338																																						ENST00000336930.6																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(202-204)tCt>tGt		leucine zipper protein 2							60.0	61.0	61.0					11																	24753686		2202	4299	6501	SO:0001583	missense	338645					extracellular region		g.chr11:24753686C>G	AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.203C>G	11.37:g.24753686C>G	ENSP00000336817:p.Ser68Cys					LUZP2_ENST00000531187.1_3'UTR|LUZP2_ENST00000533227.1_5'UTR	p.S68C			Q86TE4	LUZP2_HUMAN			3	269	+			68					A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Missense_Mutation	SNP	ENST00000336930.6	37	c.203C>G	CCDS31446.1	.	.	.	.	.	.	.	.	.	.	C	8.472	0.857744	0.17178	.	.	ENSG00000187398	ENST00000336930;ENST00000529015	T;T	0.26067	1.76;1.76	5.68	4.74	0.60224	.	0.415795	0.26903	N	0.021917	T	0.45357	0.1338	L	0.54323	1.7	0.41724	D	0.989523	D	0.89917	1.0	D	0.73380	0.98	T	0.44190	-0.9344	10	0.72032	D	0.01	-3.7116	13.5251	0.61591	0.1572:0.8428:0.0:0.0	.	68	Q86TE4	LUZP2_HUMAN	C	68	ENSP00000336817:S68C;ENSP00000437032:S68C	ENSP00000336817:S68C	S	+	2	0	LUZP2	24710262	1.000000	0.71417	0.055000	0.19348	0.272000	0.26649	3.466000	0.53071	1.325000	0.45301	0.650000	0.86243	TCT		0.338	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387861.1	NM_001009909		6	10	0	0	0	1	0	6	10				
TTN	7273	broad.mit.edu	37	2	179455517	179455517	+	Missense_Mutation	SNP	T	T	G			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr2:179455517T>G	ENST00000591111.1	-	254	56236	c.56012A>C	c.(56011-56013)gAa>gCa	p.E18671A	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E17744A|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E11372A|TTN_ENST00000460472.2_Missense_Mutation_p.E11247A|TTN_ENST00000589042.1_Missense_Mutation_p.E20312A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E11439A|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18671	Fibronectin type-III 35. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCAGTTACTTCTCGACGTTC	0.438																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(60934-60936)gAa>gCa		titin							114.0	109.0	110.0					2																	179455517		1911	4125	6036	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179455517T>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.56012A>C	2.37:g.179455517T>G	ENSP00000465570:p.Glu18671Ala					TTN_ENST00000342992.6_Missense_Mutation_p.E17744A|TTN_ENST00000342175.6_Missense_Mutation_p.E11439A|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E18671A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E11247A|TTN_ENST00000359218.5_Missense_Mutation_p.E11372A	p.E20312A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		304	61159	-			18671					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.60935A>C		.	.	.	.	.	.	.	.	.	.	T	12.86	2.065768	0.36470	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	6.11	6.11	0.99139	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67429	0.2892	L	0.53617	1.68	0.58432	D	0.999999	D;D;D;D	0.57571	0.961;0.961;0.961;0.98	P;P;P;P	0.54924	0.764;0.764;0.764;0.764	T	0.70292	-0.4912	9	0.87932	D	0	.	16.7021	0.85357	0.0:0.0:0.0:1.0	.	11247;11372;11439;18671	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	17744;11247;11439;11372;11245	ENSP00000343764:E17744A;ENSP00000434586:E11247A;ENSP00000340554:E11439A;ENSP00000352154:E11372A	ENSP00000340554:E11439A	E	-	2	0	TTN	179163763	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.991000	0.88244	2.343000	0.79666	0.533000	0.62120	GAA		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		36	42	0	0	0	1	0	36	42				
DPEP3	64180	broad.mit.edu	37	16	68010039	68010039	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr16:68010039A>G	ENST00000268793.4	-	9	1635	c.1262T>C	c.(1261-1263)gTc>gCc	p.V421A	DPEP3_ENST00000574342.1_5'Flank	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	396					male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		TCCACGAAGGACACCTTGAAG	0.557																																						ENST00000268793.4																			0				breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20						c.(1261-1263)gTc>gCc		dipeptidase 3							176.0	171.0	173.0					16																	68010039		2198	4300	6498	SO:0001583	missense	64180				meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68010039A>G	AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.1262T>C	16.37:g.68010039A>G	ENSP00000268793:p.Val421Ala						p.V421A	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)	9	1635	-		Ovarian(137;0.192)	396					B3KQ48|Q6PEZ5|Q6UXE4	Missense_Mutation	SNP	ENST00000268793.4	37	c.1262T>C	CCDS10856.1	.	.	.	.	.	.	.	.	.	.	A	17.93	3.509201	0.64410	.	.	ENSG00000141096	ENST00000268793	T	0.26373	1.74	4.76	4.76	0.60689	.	0.067298	0.64402	D	0.000016	T	0.24353	0.0590	M	0.63169	1.94	0.44162	D	0.996969	B	0.33477	0.413	B	0.32393	0.145	T	0.04495	-1.0947	10	0.36615	T	0.2	-2.4668	8.369	0.32404	0.9102:0.0:0.0898:0.0	.	396	Q9H4B8	DPEP3_HUMAN	A	421	ENSP00000268793:V421A	ENSP00000268793:V421A	V	-	2	0	DPEP3	66567540	0.183000	0.23186	1.000000	0.80357	0.986000	0.74619	1.799000	0.38824	2.117000	0.64856	0.533000	0.62120	GTC		0.557	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268875.3	NM_022357		50	89	0	0	0	1	0	50	89				
PROCR	10544	broad.mit.edu	37	20	33762688	33762688	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr20:33762688G>A	ENST00000216968.4	+	2	336	c.254G>A	c.(253-255)gGc>gAc	p.G85D	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	85					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|immune response (GO:0006955)|negative regulation of coagulation (GO:0050819)	cell surface (GO:0009986)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	ACGCAGAGTGGCCTGCAGTCC	0.677																																						ENST00000216968.4																			0				breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(253-255)gGc>gAc		protein C receptor, endothelial	Drotrecogin alfa(DB00055)						43.0	32.0	36.0					20																	33762688		2202	4300	6502	SO:0001583	missense	10544				antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity	g.chr20:33762688G>A	L35545	CCDS13248.1	20q11.2	2010-05-04	2010-05-04		ENSG00000101000	ENSG00000101000		"""CD molecules"""	9452	protein-coding gene	gene with protein product		600646				7929370, 10518938	Standard	NM_006404		Approved	EPCR, CCD41, CD201	uc002xbt.3	Q9UNN8	OTTHUMG00000032323	ENST00000216968.4:c.254G>A	20.37:g.33762688G>A	ENSP00000216968:p.Gly85Asp					EDEM2_ENST00000540582.1_Intron	p.G85D	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0152)		2	336	+			85					B2RC04|Q14218|Q6IB56|Q96CB3|Q9ULX1	Missense_Mutation	SNP	ENST00000216968.4	37	c.254G>A	CCDS13248.1	.	.	.	.	.	.	.	.	.	.	g	7.091	0.572126	0.13623	.	.	ENSG00000101000	ENST00000374477;ENST00000216968	D	0.82167	-1.58	5.22	-2.74	0.05932	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	2.363320	0.01131	N	0.005982	T	0.67496	0.2899	N	0.25647	0.755	0.09310	N	1	B	0.16396	0.017	B	0.12156	0.007	T	0.51426	-0.8707	10	0.11794	T	0.64	-5.112	1.5437	0.02560	0.3985:0.1355:0.3277:0.1384	.	85	Q9UNN8	EPCR_HUMAN	D	85	ENSP00000216968:G85D	ENSP00000216968:G85D	G	+	2	0	PROCR	33226349	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.493000	0.02298	-0.249000	0.09569	-1.017000	0.02453	GGC		0.677	PROCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078843.3			14	13	0	0	0	1	0	14	13				
SSSCA1	10534	broad.mit.edu	37	11	65338967	65338967	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr11:65338967G>C	ENST00000309328.3	+	4	424	c.362G>C	c.(361-363)cGt>cCt	p.R121P	SSSCA1_ENST00000531405.1_Missense_Mutation_p.R84P|FAM89B_ENST00000316409.2_5'Flank|SSSCA1-AS1_ENST00000567594.1_RNA|SSSCA1_ENST00000527920.1_Intron|SSSCA1_ENST00000526877.1_3'UTR|FAM89B_ENST00000530349.1_5'Flank|FAM89B_ENST00000449319.2_5'Flank	NM_006396.1	NP_006387.1	O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	121	Pro-rich.				mitotic nuclear division (GO:0007067)					kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						CCAGTACCTCGTCCGGAGCAC	0.662																																						ENST00000531405.1																			0				kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						c.(250-252)cGt>cCt		Sjogren syndrome/scleroderma autoantigen 1							58.0	61.0	60.0					11																	65338967		2201	4296	6497	SO:0001583	missense	10534				cell division|mitosis		protein binding	g.chr11:65338967G>C	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.362G>C	11.37:g.65338967G>C	ENSP00000312318:p.Arg121Pro					SSSCA1_ENST00000309328.3_Missense_Mutation_p.R121P|SSSCA1_ENST00000526877.1_3'UTR|SSSCA1_ENST00000527920.1_Intron	p.R84P			O60232	SSA27_HUMAN			3	487	+			121						Missense_Mutation	SNP	ENST00000309328.3	37	c.251G>C	CCDS8104.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.237651	0.58886	.	.	ENSG00000173465	ENST00000309328;ENST00000531405;ENST00000533115	T;T	0.49720	0.78;0.77	4.94	4.94	0.65067	.	0.053463	0.64402	D	0.000001	T	0.63070	0.2480	L	0.60455	1.87	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.61407	-0.7069	10	0.42905	T	0.14	-9.9546	13.5309	0.61621	0.0:0.0:1.0:0.0	.	121	O60232	SSA27_HUMAN	P	121;84;115	ENSP00000312318:R121P;ENSP00000435432:R115P	ENSP00000312318:R121P	R	+	2	0	SSSCA1	65095543	1.000000	0.71417	0.968000	0.41197	0.852000	0.48524	6.067000	0.71193	2.564000	0.86499	0.655000	0.94253	CGT		0.662	SSSCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389511.1	NM_006396		7	86	0	0	0	1	0	7	86				
PLCB4	5332	broad.mit.edu	37	20	9400537	9400537	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr20:9400537C>G	ENST00000378493.1	+	22	2114	c.2099C>G	c.(2098-2100)gCa>gGa	p.A700G	PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.A700G|PLCB4_ENST00000378501.2_Missense_Mutation_p.A700G|PLCB4_ENST00000414679.2_Missense_Mutation_p.A712G|PLCB4_ENST00000278655.4_Missense_Mutation_p.A700G|PLCB4_ENST00000378473.3_Missense_Mutation_p.A712G			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	700	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GGTGTTATTGCAGCCACTTGC	0.423																																						ENST00000378501.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(2098-2100)gCa>gGa		phospholipase C, beta 4							151.0	141.0	145.0					20																	9400537		2203	4300	6503	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9400537C>G		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2099C>G	20.37:g.9400537C>G	ENSP00000367754:p.Ala700Gly					PLCB4_ENST00000278655.4_Missense_Mutation_p.A700G|PLCB4_ENST00000414679.2_Missense_Mutation_p.A712G|PLCB4_ENST00000378493.1_Missense_Mutation_p.A700G|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.A712G|PLCB4_ENST00000334005.3_Missense_Mutation_p.A700G	p.A700G	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			22	2114	+			700			C2.		B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.2099C>G	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.927194	0.92389	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.25749	1.97;1.96;1.97;1.97;1.97;1.78	5.36	5.36	0.76844	C2 membrane targeting protein (1);C2 calcium/lipid-binding domain, CaLB (1);	0.048917	0.85682	D	0.000000	T	0.54886	0.1886	M	0.79614	2.46	0.80722	D	1	D;B;P;D	0.89917	0.999;0.263;0.917;1.0	D;B;D;D	0.79784	0.992;0.228;0.941;0.993	T	0.56703	-0.7935	10	0.59425	D	0.04	.	19.4501	0.94863	0.0:1.0:0.0:0.0	.	712;547;700;700	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	G	700;712;700;700;700;548	ENSP00000334105:A700G;ENSP00000367734:A712G;ENSP00000278655:A700G;ENSP00000367754:A700G;ENSP00000367762:A700G;ENSP00000390616:A548G	ENSP00000278655:A700G	A	+	2	0	PLCB4	9348537	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.752000	0.85141	2.678000	0.91216	0.563000	0.77884	GCA		0.423	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			13	61	0	0	0	1	0	13	61				
TARBP1	6894	broad.mit.edu	37	1	234546220	234546220	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr1:234546220C>G	ENST00000040877.1	-	23	3762	c.3763G>C	c.(3763-3765)Gac>Cac	p.D1255H	TARBP1_ENST00000483404.1_5'Flank	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1255					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GTAATAATGTCTAAATGTGAT	0.244																																						ENST00000040877.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55						c.(3763-3765)Gac>Cac		TAR (HIV-1) RNA binding protein 1							50.0	54.0	53.0					1																	234546220		2199	4294	6493	SO:0001583	missense	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234546220C>G		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.3763G>C	1.37:g.234546220C>G	ENSP00000040877:p.Asp1255His						p.D1255H	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		23	3762	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	1255					Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	c.3763G>C	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.279844	0.23392	.	.	ENSG00000059588	ENST00000040877	T	0.33865	1.39	4.73	4.73	0.59995	Armadillo-type fold (1);	0.353853	0.31989	N	0.006754	T	0.43144	0.1234	M	0.68317	2.08	0.41287	D	0.986952	P	0.51653	0.947	P	0.47744	0.556	T	0.29761	-1.0001	10	0.15499	T	0.54	-1.6049	16.4216	0.83760	0.0:1.0:0.0:0.0	.	1255	Q13395	TARB1_HUMAN	H	1255	ENSP00000040877:D1255H	ENSP00000040877:D1255H	D	-	1	0	TARBP1	232612843	1.000000	0.71417	0.991000	0.47740	0.037000	0.13140	3.531000	0.53546	2.609000	0.88269	0.467000	0.42956	GAC		0.244	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		13	17	0	0	0	1	0	13	17				
ZNF831	128611	broad.mit.edu	37	20	57768516	57768516	+	Silent	SNP	G	G	A	rs368710582		TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr20:57768516G>A	ENST00000371030.2	+	1	2442	c.2442G>A	c.(2440-2442)ggG>ggA	p.G814G		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	814							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGGGCTCAGGGGAGGACAAGC	0.642																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(2440-2442)ggG>ggA		zinc finger protein 831							30.0	39.0	36.0					20																	57768516		1993	4159	6152	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57768516G>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.2442G>A	20.37:g.57768516G>A							p.G814G	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	2442	+	all_lung(29;0.0085)		814					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.2442G>A	CCDS42894.1																																																																																				0.642	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		4	30	0	0	0	1	0	4	30				
TP53	7157	broad.mit.edu	37	17	7577568	7577568	+	Missense_Mutation	SNP	C	C	A			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr17:7577568C>A	ENST00000269305.4	-	7	902	c.713G>T	c.(712-714)tGt>tTt	p.C238F	TP53_ENST00000413465.2_Missense_Mutation_p.C238F|TP53_ENST00000420246.2_Missense_Mutation_p.C238F|TP53_ENST00000445888.2_Missense_Mutation_p.C238F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.C238F|TP53_ENST00000455263.2_Missense_Mutation_p.C238F	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	238	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and 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.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(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)	GGAACTGTTACACATGTAGTT	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	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"""		158	Substitution - Missense(131)|Deletion - In frame(10)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(4)	p.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(1)	breast(22)|ovary(17)|large_intestine(14)|haematopoietic_and_lymphoid_tissue(13)|endometrium(13)|lung(12)|upper_aerodigestive_tract(9)|pancreas(8)|soft_tissue(7)|urinary_tract(7)|oesophagus(7)|biliary_tract(6)|central_nervous_system(6)|liver(5)|bone(5)|stomach(4)|skin(2)|meninges(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	CM034930	TP53	M		c.(712-714)tGt>tTt	Other conserved DNA damage response genes	tumor protein p53							132.0	103.0	113.0					17																	7577568		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.chr17:7577568C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.713G>T	17.37:g.7577568C>A	ENSP00000269305:p.Cys238Phe	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.C238F|TP53_ENST00000359597.4_Missense_Mutation_p.C238F|TP53_ENST00000455263.2_Missense_Mutation_p.C238F|TP53_ENST00000445888.2_Missense_Mutation_p.C238F|TP53_ENST00000413465.2_Missense_Mutation_p.C238F	p.C238F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	845	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	238		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|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.713G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262614	0.80358	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99964	-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96	4.09	4.09	0.47781	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	0.99972	0.9991	M	0.92970	3.365	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.95847	0.8871	10	0.87932	D	0	-18.536	14.6088	0.68501	0.0:1.0:0.0:0.0	.	238;238;145;238;238;238	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	F	238;238;238;238;238;238;227;145;106;145	ENSP00000410739:C238F;ENSP00000352610:C238F;ENSP00000269305:C238F;ENSP00000398846:C238F;ENSP00000391127:C238F;ENSP00000391478:C238F;ENSP00000425104:C106F;ENSP00000423862:C145F	ENSP00000269305:C238F	C	-	2	0	TP53	7518293	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.556000	0.82233	2.564000	0.86499	0.462000	0.41574	TGT		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		20	3	1	0	5.26018e-13	1	5.36332e-13	20	3				
DENND4B	9909	broad.mit.edu	37	1	153912182	153912182	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr1:153912182C>T	ENST00000361217.4	-	12	2120	c.1702G>A	c.(1702-1704)Gga>Aga	p.G568R		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	568	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGGAAGGCTCCTTGGACTTCG	0.627																																						ENST00000361217.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(1702-1704)Gga>Aga		DENN/MADD domain containing 4B							73.0	86.0	82.0					1																	153912182		2040	4173	6213	SO:0001583	missense	9909							g.chr1:153912182C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.1702G>A	1.37:g.153912182C>T	ENSP00000354597:p.Gly568Arg						p.G568R	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		12	2120	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		568			dDENN.		Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	c.1702G>A	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	C	32	5.163829	0.94727	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.40225	1.04;1.04	5.14	5.14	0.70334	dDENN (3);	0.129442	0.52532	D	0.000077	T	0.31420	0.0796	N	0.03608	-0.345	0.52099	D	0.999945	D	0.63046	0.992	D	0.68039	0.955	T	0.50136	-0.8863	10	0.48119	T	0.1	-12.941	17.5443	0.87857	0.0:1.0:0.0:0.0	.	568	O75064	DEN4B_HUMAN	R	568;579	ENSP00000354597:G568R;ENSP00000357635:G579R	ENSP00000354597:G568R	G	-	1	0	DENND4B	152178806	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	7.475000	0.81041	2.689000	0.91719	0.462000	0.41574	GGA		0.627	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		18	47	0	0	0	1	0	18	47				
OR2T6	254879	broad.mit.edu	37	1	248551088	248551088	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr1:248551088A>G	ENST00000355728.2	+	1	179	c.179A>G	c.(178-180)tAc>tGc	p.Y60C		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCCCCATGTACTTCCTCCTC	0.483																																						ENST00000355728.2																			0				endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(178-180)tAc>tGc		olfactory receptor, family 2, subfamily T, member 6							229.0	178.0	196.0					1																	248551088		2203	4300	6503	SO:0001583	missense	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248551088A>G	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.179A>G	1.37:g.248551088A>G	ENSP00000347965:p.Tyr60Cys						p.Y60C	NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	179	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		60					A6NE36	Missense_Mutation	SNP	ENST00000355728.2	37	c.179A>G	CCDS31114.1	.	.	.	.	.	.	.	.	.	.	A	17.43	3.387798	0.61956	.	.	ENSG00000198104	ENST00000355728	T	0.15718	2.4	4.38	4.38	0.52667	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41001	D	0.000965	T	0.52964	0.1767	H	0.97158	3.95	0.40599	D	0.981561	D	0.89917	1.0	D	0.87578	0.998	T	0.66650	-0.5870	10	0.87932	D	0	.	9.7686	0.40576	0.8456:0.0:0.0:0.1543	.	60	Q8NHC8	OR2T6_HUMAN	C	60	ENSP00000347965:Y60C	ENSP00000347965:Y60C	Y	+	2	0	OR2T6	246617711	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.212000	0.72188	1.962000	0.57031	0.523000	0.50628	TAC		0.483	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		10	39	0	0	0	1	0	10	39				
HNRNPC	3183	broad.mit.edu	37	14	21702141	21702141	+	Missense_Mutation	SNP	T	T	A			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr14:21702141T>A	ENST00000320084.7	-	2	451	c.212A>T	c.(211-213)gAt>gTt	p.D71V	HNRNPC_ENST00000554969.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000556142.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000553300.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000555914.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000554455.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000420743.2_Missense_Mutation_p.D71V|HNRNPC_ENST00000336053.6_Missense_Mutation_p.D71V|HNRNPC_ENST00000555309.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000556628.1_Intron|HNRNPC_ENST00000449098.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000553753.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000555883.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000430246.2_Missense_Mutation_p.D71V|HNRNPC_ENST00000556897.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000556513.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000557201.1_Missense_Mutation_p.D71V	NM_001077442.1	NP_001070910.1	P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)	71	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|ATP-dependent chromatin remodeling (GO:0043044)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|spliceosomal complex (GO:0005681)	identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleosomal DNA binding (GO:0031492)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		CATTCTGCCATCCTCTCCTGC	0.413																																					NSCLC(108;607 2244 12726 38757)	ENST00000430246.2																			0				breast(1)|liver(1)|lung(6)|skin(1)	9						c.(211-213)gAt>gTt		heterogeneous nuclear ribonucleoprotein C (C1/C2)							58.0	58.0	58.0					14																	21702141		2088	4247	6335	SO:0001583	missense	3183					catalytic step 2 spliceosome|nucleoplasm	identical protein binding|nucleotide binding|RNA binding	g.chr14:21702141T>A		CCDS41915.1, CCDS45079.1	14q11.2	2013-06-12		2007-08-16	ENSG00000092199	ENSG00000092199		"""RNA binding motif (RRM) containing"""	5035	protein-coding gene	gene with protein product		164020		HNRPC		3457372	Standard	NM_031314		Approved	hnRNPC	uc001waa.3	P07910	OTTHUMG00000170757	ENST00000320084.7:c.212A>T	14.37:g.21702141T>A	ENSP00000319690:p.Asp71Val					HNRNPC_ENST00000320084.7_Missense_Mutation_p.D71V|HNRNPC_ENST00000553753.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000336053.6_Missense_Mutation_p.D71V|HNRNPC_ENST00000449098.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000556897.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000556628.1_Intron|HNRNPC_ENST00000554455.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000556513.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000556142.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000555883.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000555914.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000553300.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000555309.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000420743.2_Missense_Mutation_p.D71V|HNRNPC_ENST00000554969.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000557201.1_Missense_Mutation_p.D71V	p.D71V			P07910	HNRPC_HUMAN	Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)	2	3163	-	all_cancers(95;0.00176)		71			RRM.		D3DS19|D3DS22|P22628|Q53EX2|Q59FD3|Q5FWE8|Q86SF8|Q86U45|Q96HK7|Q96HM4|Q96IY5|Q9BTS3	Missense_Mutation	SNP	ENST00000320084.7	37	c.212A>T	CCDS41915.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.815078	0.90790	.	.	ENSG00000092199	ENST00000336053;ENST00000320084;ENST00000449098;ENST00000554969;ENST00000556142;ENST00000554455;ENST00000430246;ENST00000553753;ENST00000555914;ENST00000555309;ENST00000452166;ENST00000555883;ENST00000556513;ENST00000557201;ENST00000553300;ENST00000556897;ENST00000420743;ENST00000445284;ENST00000554383;ENST00000555215;ENST00000555137;ENST00000554891;ENST00000556226;ENST00000555176	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.43	5.43	0.79202	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.072824	0.51477	U	0.000090	T	0.67524	0.2902	M	0.78223	2.4	0.80722	D	1	P;B;D;D;P	0.56521	0.953;0.059;0.976;0.961;0.917	P;B;D;P;P	0.63793	0.864;0.148;0.918;0.811;0.713	T	0.72469	-0.4284	10	0.87932	D	0	.	14.4601	0.67442	0.0:0.0:0.0:1.0	.	71;71;71;71;71	B4DY08;P07910-4;G3V4C1;P07910;P07910-2	.;.;.;HNRPC_HUMAN;.	V	71	ENSP00000338095:D71V;ENSP00000319690:D71V;ENSP00000404559:D71V;ENSP00000450725:D71V;ENSP00000451187:D71V;ENSP00000451291:D71V;ENSP00000442816:D71V;ENSP00000450548:D71V;ENSP00000451708:D71V;ENSP00000450790:D71V;ENSP00000450629:D71V;ENSP00000452214:D71V;ENSP00000452276:D71V;ENSP00000450544:D71V;ENSP00000451176:D71V;ENSP00000404848:D71V;ENSP00000452021:D71V;ENSP00000452213:D71V;ENSP00000452185:D71V;ENSP00000450467:D71V;ENSP00000451292:D71V;ENSP00000452573:D71V	ENSP00000319690:D71V	D	-	2	0	HNRNPC	20771981	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.975000	0.88055	2.066000	0.61787	0.533000	0.62120	GAT		0.413	HNRNPC-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410235.1			39	42	0	0	0	1	0	39	42				
PLCZ1	89869	broad.mit.edu	37	12	18847986	18847986	+	Missense_Mutation	SNP	A	A	T			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr12:18847986A>T	ENST00000538330.1	-	8	1046	c.665T>A	c.(664-666)cTg>cAg	p.L222Q	PLCZ1_ENST00000541695.1_Missense_Mutation_p.L303Q|PLCZ1_ENST00000447925.2_Missense_Mutation_p.L438Q|PLCZ1_ENST00000534932.1_5'Flank|PLCZ1_ENST00000539875.1_Missense_Mutation_p.L247Q|PLCZ1_ENST00000542762.1_5'Flank|PLCZ1_ENST00000266505.7_Missense_Mutation_p.L440Q|PLCZ1_ENST00000435379.1_Missense_Mutation_p.L245Q					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					ATCCATGGGCAGACCAGGGGT	0.353																																						ENST00000266505.7																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.(1318-1320)cTg>cAg		phospholipase C, zeta 1							76.0	78.0	77.0					12																	18847986		2203	4298	6501	SO:0001583	missense	89869				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr12:18847986A>T	AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"""EF-hand domain containing"""	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000538330.1:c.665T>A	12.37:g.18847986A>T	ENSP00000445880:p.Leu222Gln					PLCZ1_ENST00000435379.1_Missense_Mutation_p.L245Q|PLCZ1_ENST00000447925.2_Missense_Mutation_p.L438Q|PLCZ1_ENST00000538330.1_Missense_Mutation_p.L222Q|PLCZ1_ENST00000541695.1_Missense_Mutation_p.L303Q|PLCZ1_ENST00000539875.1_Missense_Mutation_p.L247Q	p.L440Q			Q86YW0	PLCZ1_HUMAN			12	1582	-	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)		440			PI-PLC Y-box.			Missense_Mutation	SNP	ENST00000538330.1	37	c.1319T>A		.	.	.	.	.	.	.	.	.	.	A	10.96	1.498377	0.26861	.	.	ENSG00000139151	ENST00000538330;ENST00000266505;ENST00000447925;ENST00000435379;ENST00000541695;ENST00000539875;ENST00000540421	T;T;T;T;T;T;T	0.66099	-0.19;0.48;0.48;-0.19;0.48;-0.19;-0.19	4.88	4.88	0.63580	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.985698	0.08271	N	0.971515	T	0.72630	0.3484	M	0.67625	2.065	0.09310	N	1	D;D	0.60575	0.988;0.988	P;P	0.60682	0.878;0.878	T	0.57406	-0.7817	10	0.34782	T	0.22	.	6.8488	0.24003	0.8892:0.0:0.1108:0.0	.	440;222	Q86YW0;Q8N7S5	PLCZ1_HUMAN;.	Q	222;440;438;245;303;247;175	ENSP00000445880:L222Q;ENSP00000266505:L440Q;ENSP00000402358:L438Q;ENSP00000400504:L245Q;ENSP00000443349:L303Q;ENSP00000445026:L247Q;ENSP00000445889:L175Q	ENSP00000266505:L440Q	L	-	2	0	PLCZ1	18739253	0.002000	0.14202	0.988000	0.46212	0.630000	0.37929	1.683000	0.37638	1.826000	0.53198	0.260000	0.18958	CTG		0.353	PLCZ1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000401666.3	NM_033123		19	51	0	0	0	1	0	19	51				
PTER	9317	broad.mit.edu	37	10	16526678	16526678	+	Missense_Mutation	SNP	A	A	G	rs181845043		TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr10:16526678A>G	ENST00000378000.1	+	3	541	c.295A>G	c.(295-297)Aca>Gca	p.T99A	PTER_ENST00000423462.2_Missense_Mutation_p.T99A|PTER_ENST00000535784.2_Missense_Mutation_p.T99A|PTER_ENST00000298942.3_Missense_Mutation_p.T99A	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	99					catabolic process (GO:0009056)|epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						GGTGGAAAACACAACCACTGG	0.443													A|||	1	0.000199681	0.0	0.0	5008	,	,		17656	0.0		0.001	False		,,,				2504	0.0				Ovarian(2;46 150 15648 38137 47908)	ENST00000378000.1																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						c.(295-297)Aca>Gca		phosphotriesterase related							72.0	77.0	75.0					10																	16526678		2203	4300	6503	SO:0001583	missense	9317				catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding	g.chr10:16526678A>G	BC015092	CCDS7111.1, CCDS58070.1, CCDS73070.1	10p12	2003-11-05			ENSG00000165983	ENSG00000165983			9590	protein-coding gene	gene with protein product		604446				9925913	Standard	NM_001001484		Approved		uc001ioi.2	Q96BW5	OTTHUMG00000017737	ENST00000378000.1:c.295A>G	10.37:g.16526678A>G	ENSP00000367239:p.Thr99Ala					PTER_ENST00000423462.2_Missense_Mutation_p.T99A|PTER_ENST00000535784.2_Missense_Mutation_p.T99A|PTER_ENST00000298942.3_Missense_Mutation_p.T99A	p.T99A	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN			3	541	+			99					B0YJ77|B3KTF5|D3DRU0|Q9BY46	Missense_Mutation	SNP	ENST00000378000.1	37	c.295A>G	CCDS7111.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	26.7	4.766974	0.90020	.	.	ENSG00000165983	ENST00000343656;ENST00000535784;ENST00000423462;ENST00000378000;ENST00000298942	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.79724	0.4495	H	0.94264	3.515	0.80722	D	1	D;D	0.62365	0.988;0.991	D;D	0.68039	0.944;0.955	D	0.85774	0.1357	10	0.87932	D	0	-21.479	16.0133	0.80420	1.0:0.0:0.0:0.0	.	99;99	Q96BW5-2;Q96BW5	.;PTER_HUMAN	A	99	ENSP00000439485:T99A;ENSP00000389535:T99A;ENSP00000367239:T99A;ENSP00000298942:T99A	ENSP00000298942:T99A	T	+	1	0	PTER	16566684	1.000000	0.71417	0.995000	0.50966	0.921000	0.55340	9.339000	0.96797	2.179000	0.69175	0.533000	0.62120	ACA		0.443	PTER-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047001.2	NM_030664		23	32	0	0	0	1	0	23	32				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	41	0	0	0	1	0	3	41				
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137791	121137793	+	lincRNA	DEL	CCA	CCA	-	rs28552466|rs61625886|rs374710813	byFrequency	TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr1:121137791_121137793delCCA	ENST00000417218.1	+	0	0				RP11-343N15.1_ENST00000437515.1_lincRNA																							ATTTCGCCCTCCACCGCCGCCGC	0.631																																						ENST00000437515.1																			0																																																			0							g.chr1:121137791_121137793delCCA																													1.37:g.121137791_121137793delCCA														0	329	-									RNA	DEL	ENST00000417218.1	37																																																																																						0.631	AL592494.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000036739.1			2	4						2	4	---	---	---	---
SCAP	22937	broad.mit.edu	37	3	47455478	47455481	+	Frame_Shift_Del	DEL	CTGT	CTGT	-			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr3:47455478_47455481delCTGT	ENST00000265565.5	-	23	4115_4118	c.3703_3706delACAG	c.(3703-3708)acagtcfs	p.TV1235fs	SCAP_ENST00000441517.2_Frame_Shift_Del_p.TV979fs|SCAP_ENST00000545718.1_Frame_Shift_Del_p.TV842fs	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1235	Interaction with SREBF2. {ECO:0000250}.				aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CCCAGGTAGACTGTCTGTAACAGG	0.583																																					Pancreas(149;978 1908 29304 37806 46700)	ENST00000265565.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(3703-3708)tcfs		SREBF chaperone																																				SO:0001589	frameshift_variant	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47455478_47455481delCTGT	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.3703_3706delACAG	3.37:g.47455482_47455485delCTGT	ENSP00000265565:p.Thr1235fs					SCAP_ENST00000545718.1_Frame_Shift_Del_p.TV842fs|SCAP_ENST00000441517.2_Frame_Shift_Del_p.TV979fs	p.TV1235fs	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	23	4115_4118	-			1235			Interaction with SREBF2 (By similarity).		Q8N2E0|Q8WUA1	Frame_Shift_Del	DEL	ENST00000265565.5	37	c.3703_3706delACAG	CCDS2755.2																																																																																				0.583	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		8	210						8	210	---	---	---	---
XRRA1	143570	broad.mit.edu	37	11	74618234	74618235	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr11:74618234_74618235delTC	ENST00000340360.6	-	9	1047_1048	c.716_717delGA	c.(715-717)agafs	p.R239fs	XRRA1_ENST00000533598.1_5'Flank|RP11-147I3.1_ENST00000533875.1_RNA|XRRA1_ENST00000527087.1_Frame_Shift_Del_p.R239fs|XRRA1_ENST00000321448.8_Frame_Shift_Del_p.R6fs	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						GGTTGGAGAGTCTGTTGTCATC	0.55																																						ENST00000340360.6																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						c.(715-717)afs		X-ray radiation resistance associated 1																																				SO:0001589	frameshift_variant	143570				response to X-ray	cytoplasm|nucleus		g.chr11:74618234_74618235delTC	AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.716_717delGA	11.37:g.74618234_74618235delTC	ENSP00000339918:p.Arg239fs					XRRA1_ENST00000321448.8_Frame_Shift_Del_p.R6fs|RP11-147I3.1_ENST00000533875.1_RNA|XRRA1_ENST00000527087.1_Frame_Shift_Del_p.R239fs	p.R239fs	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN			9	1047_1048	-			239						Frame_Shift_Del	DEL	ENST00000340360.6	37	c.716_717delGA	CCDS44680.1																																																																																				0.550	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384715.1	NM_182969		38	78						38	78	---	---	---	---
EXOC3L4	91828	broad.mit.edu	37	14	103571146	103571146	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr14:103571146delC	ENST00000380069.3	+	5	1432	c.1356delC	c.(1354-1356)tgcfs	p.C452fs		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	452					exocytosis (GO:0006887)	exocyst (GO:0000145)				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						TGCGAATCTGCACGCGGGCGC	0.721																																						ENST00000380069.3																			0				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						c.(1354-1356)tgfs		exocyst complex component 3-like 4							5.0	5.0	5.0					14																	103571146		2074	4079	6153	SO:0001589	frameshift_variant	91828							g.chr14:103571146delC	AK000671	CCDS32163.1	14q32.32	2011-01-31	2011-01-31	2011-01-31	ENSG00000205436	ENSG00000205436			20120	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 73"""	C14orf73			Standard	NM_001077594		Approved		uc001ymk.3	Q17RC7		ENST00000380069.3:c.1356delC	14.37:g.103571146delC	ENSP00000369409:p.Cys452fs						p.C452fs	NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN			5	1432	+			452					Q14CR2	Frame_Shift_Del	DEL	ENST00000380069.3	37	c.1356delC	CCDS32163.1																																																																																				0.721	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415663.1	XM_941093		2	4						2	4	---	---	---	---
CYP4F24P	388514	broad.mit.edu	37	19	15880338	15880340	+	lincRNA	DEL	CTT	CTT	-			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr19:15880338_15880340delCTT	ENST00000595525.1	+	0	529																											TCCCTTCCCACTTGGGGAGCAGA	0.493																																						ENST00000595525.1																			0																																																			0							g.chr19:15880338_15880340delCTT																													19.37:g.15880338_15880340delCTT						CYP4F24P_ENST00000587443.2_RNA								0	529	+									RNA	DEL	ENST00000595525.1	37																																																																																						0.493	LLNLR-249E10.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000472008.1			21	17						21	17	---	---	---	---
PICK1	9463	broad.mit.edu	37	22	38455269	38455269	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr22:38455269delA	ENST00000404072.3	+	3	417	c.70delA	c.(70-72)accfs	p.T24fs	PICK1_ENST00000356976.3_Frame_Shift_Del_p.T24fs|RP5-1039K5.13_ENST00000445483.1_RNA|PICK1_ENST00000468288.1_3'UTR	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	24	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				ATP catabolic process (GO:0006200)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|dendritic spine maintenance (GO:0097062)|dendritic spine organization (GO:0097061)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|glial cell development (GO:0021782)|long term synaptic depression (GO:0060292)|monoamine transport (GO:0015844)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|neuronal ion channel clustering (GO:0045161)|positive regulation of receptor internalization (GO:0002092)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|protein targeting (GO:0006605)|receptor clustering (GO:0043113)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endocytic vesicle membrane (GO:0030666)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein kinase C binding (GO:0005080)|receptor binding (GO:0005102)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					TGGGAAGGTGACCCTGCAGAA	0.567																																						ENST00000404072.3																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(70-72)ccfs		protein interacting with PRKCA 1							90.0	63.0	72.0					22																	38455269		2202	4299	6501	SO:0001589	frameshift_variant	9463				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding	g.chr22:38455269delA	AL049654	CCDS13965.1	22q13.1	2006-02-14	2006-02-14	2006-02-14	ENSG00000100151	ENSG00000100151			9394	protein-coding gene	gene with protein product		605926	"""protein kinase C, alpha binding protein"", ""protein interacting with PRKCA"""	PRKCABP		10340301, 10591208	Standard	XM_006724377		Approved	dJ1039K5, MGC15204	uc003aus.3	Q9NRD5	OTTHUMG00000151159	ENST00000404072.3:c.70delA	22.37:g.38455269delA	ENSP00000385205:p.Thr24fs					PICK1_ENST00000468288.1_3'UTR|PICK1_ENST00000356976.3_Frame_Shift_Del_p.T24fs|RP5-1039K5.13_ENST00000445483.1_RNA	p.T24fs	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN			3	417	+	Melanoma(58;0.045)		24			PDZ.		B3KS52|O95906	Frame_Shift_Del	DEL	ENST00000404072.3	37	c.70delA	CCDS13965.1																																																																																				0.567	PICK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321569.2	NM_012407		2	4						2	4	---	---	---	---
