#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
PKD1	5310	broad.mit.edu	37	16	2139950	2139950	+	Silent	SNP	G	G	A	rs148433208	byFrequency	TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr16:2139950G>A	ENST00000262304.4	-	46	12898	c.12690C>T	c.(12688-12690)aaC>aaT	p.N4230N	PKD1_ENST00000423118.1_Silent_p.N4229N|RP11-304L19.1_ENST00000570072.1_RNA|MIR1225_ENST00000408729.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	4230					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTGTGGCCTGGTTGAGTCGGT	0.687													G|||	3	0.000599042	0.0023	0.0	5008	,	,		14851	0.0		0.0	False		,,,				2504	0.0					ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(12688-12690)aaC>aaT		polycystic kidney disease 1 (autosomal dominant)		G	,	10,4376	15.5+/-35.6	0,10,2183	35.0	33.0	33.0		12687,12690	2.8	1.0	16	dbSNP_134	33	0,8592		0,0,4296	no	coding-synonymous,coding-synonymous	PKD1	NM_000296.3,NM_001009944.2	,	0,10,6479	AA,AG,GG		0.0,0.228,0.0771	,	4229/4303,4230/4304	2139950	10,12968	2193	4296	6489	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2139950G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.12690C>T	16.37:g.2139950G>A						PKD1_ENST00000423118.1_Silent_p.N4229N	p.N4230N	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			46	12898	-			4230					Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.12690C>T	CCDS32369.1																																																																																				0.687	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			4	22	0	0	0	1	0	4	22				
ADCY4	196883	broad.mit.edu	37	14	24788316	24788316	+	Missense_Mutation	SNP	G	G	A	rs61741640	byFrequency	TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr14:24788316G>A	ENST00000310677.4	-	24	3057	c.2944C>T	c.(2944-2946)Cgc>Tgc	p.R982C	ADCY4_ENST00000418030.2_Missense_Mutation_p.R982C|ADCY4_ENST00000554068.2_Missense_Mutation_p.R982C	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	982					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		ACTCGCAGGCGGAAGTTGTTG	0.567																																						ENST00000310677.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2944-2946)Cgc>Tgc		adenylate cyclase 4		G	CYS/ARG,CYS/ARG,CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	131.0	127.0	128.0		2944,2944,2944	5.0	1.0	14	dbSNP_129	128	8,8592	5.7+/-21.5	0,8,4292	yes	missense,missense,missense	ADCY4	NM_001198568.1,NM_001198592.1,NM_139247.3	180,180,180	0,10,6493	AA,AG,GG		0.093,0.0454,0.0769	probably-damaging,probably-damaging,probably-damaging	982/1078,982/1078,982/1078	24788316	10,12996	2203	4300	6503	SO:0001583	missense	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24788316G>A	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.2944C>T	14.37:g.24788316G>A	ENSP00000312126:p.Arg982Cys					ADCY4_ENST00000554068.2_Missense_Mutation_p.R982C|ADCY4_ENST00000418030.2_Missense_Mutation_p.R982C	p.R982C	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	24	3057	-			982					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	c.2944C>T	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.353216	0.61293	4.54E-4	9.3E-4	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030	D;D;D	0.82081	-1.57;-1.57;-1.57	5.04	5.04	0.67666	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.138044	0.33875	N	0.004469	D	0.90205	0.6938	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.70016	0.967	D	0.90733	0.4644	10	0.66056	D	0.02	.	10.8862	0.46968	0.0:0.0:0.8126:0.1874	.	982	Q8NFM4	ADCY4_HUMAN	C	982	ENSP00000312126:R982C;ENSP00000452250:R982C;ENSP00000393177:R982C	ENSP00000312126:R982C	R	-	1	0	ADCY4	23858156	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.852000	0.55934	2.594000	0.87642	0.655000	0.94253	CGC		0.567	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			7	124	0	0	0	1	0	7	124				
CEP170B	283638	broad.mit.edu	37	14	105361169	105361169	+	Silent	SNP	A	A	C			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr14:105361169A>C	ENST00000414716.3	+	19	4767	c.4539A>C	c.(4537-4539)tcA>tcC	p.S1513S	CEP170B_ENST00000453495.1_Silent_p.S1549S|CEP170B_ENST00000418279.1_Silent_p.S1443S|CEP170B_ENST00000556508.1_Silent_p.S1478S	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1548						cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.S1513S(3)|p.S1479S(3)|p.S1478S(1)									GCCCACCCTCACCCGCCTCAG	0.711																																						ENST00000453495.1																			7	Substitution - coding silent(7)	p.S1513S(3)|p.S1479S(3)|p.S1478S(1)	prostate(3)|kidney(2)|central_nervous_system(2)								c.(4645-4647)tcA>tcC		centrosomal protein 170B							11.0	15.0	14.0					14																	105361169		1915	4097	6012	SO:0001819	synonymous_variant	283638							g.chr14:105361169A>C	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.4539A>C	14.37:g.105361169A>C						CEP170B_ENST00000556508.1_Silent_p.S1478S|CEP170B_ENST00000414716.3_Silent_p.S1513S|CEP170B_ENST00000418279.1_Silent_p.S1443S	p.S1549S							19	4875	+								Q2KHR7|Q86TI7	Silent	SNP	ENST00000414716.3	37	c.4647A>C	CCDS45175.1																																																																																				0.711	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		8	19	0	0	0	1	0	8	19				
PLD4	122618	broad.mit.edu	37	14	105399118	105399118	+	Silent	SNP	G	G	A			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr14:105399118G>A	ENST00000392593.4	+	11	1506	c.1338G>A	c.(1336-1338)tcG>tcA	p.S446S	PLD4_ENST00000540372.1_Silent_p.S453S|PLD4_ENST00000553861.1_Silent_p.S15S	NM_138790.2	NP_620145.2	Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	446	PLD phosphodiesterase 2. {ECO:0000255|PROSITE-ProRule:PRU00153}.				glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phagocytosis (GO:0006909)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|trans-Golgi network membrane (GO:0032588)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase D activity (GO:0004630)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)			CCAACTGGTCGGAGGATTACT	0.736																																						ENST00000540372.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13						c.(1357-1359)tcG>tcA		phospholipase D family, member 4	Choline(DB00122)						9.0	12.0	11.0					14																	105399118		1934	4120	6054	SO:0001819	synonymous_variant	122618				lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity	g.chr14:105399118G>A		CCDS9995.2	14q32.33	2014-01-28	2005-05-20	2005-05-20	ENSG00000166428	ENSG00000166428			23792	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 175"""	C14orf175			Standard	XM_006720024		Approved		uc001ypu.1	Q96BZ4	OTTHUMG00000144167	ENST00000392593.4:c.1338G>A	14.37:g.105399118G>A						PLD4_ENST00000553861.1_Silent_p.S15S|PLD4_ENST00000392593.4_Silent_p.S446S	p.S453S			Q96BZ4	PLD4_HUMAN	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		11	1551	+		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	446					Q6UWD2	Silent	SNP	ENST00000392593.4	37	c.1359G>A	CCDS9995.2																																																																																				0.736	PLD4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000291348.2	NM_138790		2	7	0	0	0	1	0	2	7				
ZNF425	155054	broad.mit.edu	37	7	148801044	148801044	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr7:148801044C>T	ENST00000378061.2	-	4	2051	c.1919G>A	c.(1918-1920)tGt>tAt	p.C640Y		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	640					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GCACATCACACAAGAGAATGG	0.537																																						ENST00000378061.2																			0				breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(1918-1920)tGt>tAt		zinc finger protein 425							151.0	141.0	145.0					7																	148801044		2203	4300	6503	SO:0001583	missense	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148801044C>T	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.1919G>A	7.37:g.148801044C>T	ENSP00000367300:p.Cys640Tyr						p.C640Y	NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	2051	-	Melanoma(164;0.15)		640					B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	c.1919G>A	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333071	0.60853	.	.	ENSG00000204947	ENST00000378061	D	0.85088	-1.94	3.16	3.16	0.36331	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93697	0.7986	H	0.94582	3.555	0.40544	D	0.981051	D	0.89917	1.0	D	0.97110	1.0	D	0.94998	0.8140	9	0.87932	D	0	.	12.1153	0.53861	0.0:1.0:0.0:0.0	.	640	Q6IV72	ZN425_HUMAN	Y	640	ENSP00000367300:C640Y	ENSP00000367300:C640Y	C	-	2	0	ZNF425	148431977	1.000000	0.71417	0.012000	0.15200	0.044000	0.14063	6.358000	0.73055	1.766000	0.52107	0.655000	0.94253	TGT		0.537	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		17	185	0	0	0	1	0	17	185				
PHKG2	5261	broad.mit.edu	37	16	30770950	30770950	+	3'UTR	SNP	T	T	C	rs62622830	byFrequency	TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr16:30770950T>C	ENST00000563588.1	+	0	3992				RNF40_ENST00000563683.1_5'Flank|RNF40_ENST00000357890.5_5'Flank|RNF40_ENST00000402121.3_5'Flank|RNF40_ENST00000324685.6_5'Flank|C16orf93_ENST00000543610.1_Intron|PHKG2_ENST00000424889.3_Intron|C16orf93_ENST00000541260.1_Missense_Mutation_p.K189E	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)						carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|positive regulation of glycogen catabolic process (GO:0045819)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			ovary(1)|skin(1)	2			Colorectal(24;0.198)			GGGTAAAGTTTCCAGAATGTT	0.532													T|||	418	0.0834665	0.0219	0.1427	5008	,	,		20808	0.001		0.2187	False		,,,				2504	0.0706					ENST00000541260.1																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						c.(565-567)Aaa>Gaa		chromosome 16 open reading frame 93		T	,,	191,4203	117.1+/-155.0	5,181,2011	81.0	66.0	71.0		,,	-1.3	0.0	16	dbSNP_129	71	1837,6763	317.0+/-313.0	194,1449,2657	no	utr-3,intron,intron	PHKG2,C16orf93	NM_000294.2,NM_001014979.2,NM_001172432.1	,,	199,1630,4668	CC,CT,TT		21.3605,4.3468,15.6072	,,	,,	30770950	2028,10966	2197	4300	6497	SO:0001624	3_prime_UTR_variant	90835							g.chr16:30770950T>C	S73483, M31606	CCDS10690.1, CCDS54002.1	16p11.2	2008-02-05			ENSG00000156873	ENSG00000156873			8931	protein-coding gene	gene with protein product		172471				2915644, 8020963	Standard	NM_000294		Approved		uc021tgo.1	P15735	OTTHUMG00000132400	ENST00000563588.1:c.*2532T>C	16.37:g.30770950T>C						PHKG2_ENST00000424889.3_Intron|C16orf93_ENST00000543610.1_Intron|PHKG2_ENST00000563588.1_3'UTR	p.K189E			A1A4V9	CP093_HUMAN			5	895	-			0					A8K0C7|B4DEB7|E9PEU3|P11800	Missense_Mutation	SNP	ENST00000563588.1	37	c.565A>G	CCDS10690.1																																																																																				0.532	PHKG2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255531.2	NM_000294		4	59	0	0	0	1	0	4	59				
CDH12	1010	broad.mit.edu	37	5	21975457	21975457	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr5:21975457T>C	ENST00000382254.1	-	6	1355	c.269A>G	c.(268-270)aAa>aGa	p.K90R	CDH12_ENST00000522262.1_Missense_Mutation_p.K90R|CDH12_ENST00000504376.2_Missense_Mutation_p.K90R	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	90	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GAGGGTGTATTTCACAGTGCC	0.463										HNSCC(59;0.17)																												ENST00000382254.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(268-270)aAa>aGa		cadherin 12, type 2 (N-cadherin 2)							67.0	68.0	67.0					5																	21975457		2046	3890	5936	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21975457T>C	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.269A>G	5.37:g.21975457T>C	ENSP00000371689:p.Lys90Arg	HNSCC(59;0.17)				CDH12_ENST00000504376.2_Missense_Mutation_p.K90R|CDH12_ENST00000522262.1_Missense_Mutation_p.K90R	p.K90R	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN			6	1355	-			90			Cadherin 1.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.269A>G	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	T	15.17	2.754923	0.49362	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.50277	0.75;0.75;0.75	5.16	5.16	0.70880	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.36963	0.0986	N	0.17800	0.525	0.46222	D	0.998933	B;B	0.30033	0.026;0.266	B;B	0.36418	0.044;0.224	T	0.34378	-0.9831	10	0.56958	D	0.05	.	11.6254	0.51142	0.0:0.0:0.1486:0.8514	.	90;90	B7Z2U6;P55289	.;CAD12_HUMAN	R	90	ENSP00000423577:K90R;ENSP00000371689:K90R;ENSP00000428786:K90R	ENSP00000371689:K90R	K	-	2	0	CDH12	22011214	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	5.824000	0.69279	1.954000	0.56735	0.397000	0.26171	AAA		0.463	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		14	148	0	0	0	1	0	14	148				
LRRC37A6P	387646	broad.mit.edu	37	10	27538569	27538569	+	lincRNA	SNP	G	G	A	rs11015624	byFrequency	TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr10:27538569G>A	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							CAGGTCCAAAGGTTGAACTGT	0.478													G|||	692	0.138179	0.1861	0.2795	5008	,	,		22762	0.0149		0.1879	False		,,,				2504	0.0491					ENST00000574842.1																			0															G		256,1128		22,212,458	74.0	62.0	66.0			0.9	0.0	10	dbSNP_120	66	637,2545		67,503,1021	no	intergenic				89,715,1479	AA,AG,GG		20.0189,18.4971,19.5576			27538569	893,3673	692	1591	2283			0							g.chr10:27538569G>A																													10.37:g.27538569G>A						LRRC37A6P_ENST00000284414.4_RNA								0	255	+									RNA	SNP	ENST00000574842.1	37																																																																																						0.478	RP11-85G18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436904.1			12	245	0	0	0	1	0	12	245				
ABHD15	116236	broad.mit.edu	37	17	27893250	27893250	+	Silent	SNP	G	G	A			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr17:27893250G>A	ENST00000307201.4	-	1	905	c.735C>T	c.(733-735)tcC>tcT	p.S245S	RP11-68I3.2_ENST00000581474.1_RNA|TP53I13_ENST00000301057.7_5'Flank	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	245						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						CGCCCAGGTAGGACAGGAGCA	0.711																																						ENST00000307201.4																			0				breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(733-735)tcC>tcT		abhydrolase domain containing 15							13.0	16.0	15.0					17																	27893250		2192	4283	6475	SO:0001819	synonymous_variant	116236					extracellular region	carboxylesterase activity	g.chr17:27893250G>A	AK056717	CCDS32602.1	17q11.2	2009-11-20			ENSG00000168792	ENSG00000168792		"""Abhydrolase domain containing"""	26971	protein-coding gene	gene with protein product						12975309	Standard	NM_198147		Approved		uc002hed.2	Q6UXT9		ENST00000307201.4:c.735C>T	17.37:g.27893250G>A						RP11-68I3.2_ENST00000581474.1_RNA	p.S245S	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN			1	905	-			245					Q96EC5	Silent	SNP	ENST00000307201.4	37	c.735C>T	CCDS32602.1																																																																																				0.711	ABHD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447796.2	NM_198147		3	31	0	0	0	1	0	3	31				
CLDN14	23562	broad.mit.edu	37	21	37833827	37833827	+	Nonsense_Mutation	SNP	C	C	T	rs371100799		TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr21:37833827C>T	ENST00000399137.1	-	3	1033	c.167G>A	c.(166-168)tGg>tAg	p.W56*	AP000695.6_ENST00000429588.1_RNA|CLDN14_ENST00000399135.1_Nonsense_Mutation_p.W56*|CLDN14_ENST00000342108.2_Nonsense_Mutation_p.W56*|AP000695.4_ENST00000428667.1_RNA|CLDN14_ENST00000399136.1_Nonsense_Mutation_p.W56*|CLDN14_ENST00000399139.1_Nonsense_Mutation_p.W56*|AP000695.4_ENST00000454980.1_RNA	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	56					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|protein complex assembly (GO:0006461)|tight junction assembly (GO:0070830)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|lung(5)|skin(1)	7						TGTGCTGTGCCACACACACTC	0.637																																						ENST00000399137.1																			0				endometrium(1)|lung(5)|skin(1)	7						c.(166-168)tGg>tAg		claudin 14		C	stop/TRP,stop/TRP,stop/TRP,stop/TRP,stop/TRP	1,4405		0,1,2202	58.0	39.0	45.0		167,167,167,167,167	5.5	1.0	21		45	0,8600		0,0,4300	no	stop-gained,stop-gained,stop-gained,stop-gained,stop-gained	CLDN14	NM_001146077.1,NM_001146078.1,NM_001146079.1,NM_012130.2,NM_144492.2	,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,	56/240,56/240,56/240,56/240,56/240	37833827	1,13005	2203	4300	6503	SO:0001587	stop_gained	23562				calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr21:37833827C>T	AJ132445	CCDS13645.1	21q22.3	2008-07-31			ENSG00000159261	ENSG00000159261		"""Claudins"""	2035	protein-coding gene	gene with protein product		605608		DFNB29		11163249	Standard	NM_144492		Approved		uc002yvk.2	O95500	OTTHUMG00000086638	ENST00000399137.1:c.167G>A	21.37:g.37833827C>T	ENSP00000382090:p.Trp56*					AP000695.6_ENST00000429588.1_RNA|AP000695.4_ENST00000428667.1_RNA|CLDN14_ENST00000399139.1_Nonsense_Mutation_p.W56*|CLDN14_ENST00000342108.2_Nonsense_Mutation_p.W56*|CLDN14_ENST00000399136.1_Nonsense_Mutation_p.W56*|CLDN14_ENST00000399135.1_Nonsense_Mutation_p.W56*	p.W56*	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN			3	1033	-			56						Nonsense_Mutation	SNP	ENST00000399137.1	37	c.167G>A	CCDS13645.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592285	0.86953	2.27E-4	0.0	ENSG00000159261	ENST00000399139;ENST00000399137;ENST00000399135;ENST00000399136;ENST00000342108	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	19.4085	0.94658	0.0:1.0:0.0:0.0	.	.	.	.	X	56	.	ENSP00000339292:W56X	W	-	2	0	CLDN14	36755697	1.000000	0.71417	1.000000	0.80357	0.065000	0.16274	2.573000	0.46007	2.576000	0.86940	0.561000	0.74099	TGG		0.637	CLDN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194697.1	NM_144492		5	41	0	0	0	1	0	5	41				
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	lincRNA	SNP	C	C	G	rs199933143		TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713773C>G																													1.37:g.142713773C>G														0	832	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			5	76	0	0	0	1	0	5	76				
LTBP4	8425	broad.mit.edu	37	19	41123027	41123027	+	Missense_Mutation	SNP	G	G	A	rs35089561	byFrequency	TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr19:41123027G>A	ENST00000308370.7	+	24	3167	c.3167G>A	c.(3166-3168)cGg>cAg	p.R1056Q	LTBP4_ENST00000545697.1_Intron|LTBP4_ENST00000243562.9_Missense_Mutation_p.R110Q|LTBP4_ENST00000204005.9_Missense_Mutation_p.R1019Q|LTBP4_ENST00000396819.3_Missense_Mutation_p.R989Q|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1056	Cys-rich.|EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGCCGGAACCGGTCCTTCTGC	0.622													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17907	0.0		0.0	False		,,,				2504	0.0					ENST00000308370.7																			0				central_nervous_system(1)	1						c.(3166-3168)cGg>cAg		latent transforming growth factor beta binding protein 4							65.0	71.0	69.0					19																	41123027		2082	4223	6305	SO:0001583	missense	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41123027G>A	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.3167G>A	19.37:g.41123027G>A	ENSP00000311905:p.Arg1056Gln					LTBP4_ENST00000204005.9_Missense_Mutation_p.R1019Q|LTBP4_ENST00000243562.9_Missense_Mutation_p.R110Q|LTBP4_ENST00000396819.3_Missense_Mutation_p.R989Q|LTBP4_ENST00000545697.1_Intron|LTBP4_ENST00000602240.1_3'UTR	p.R1056Q	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		24	3167	+			1056			Cys-rich.|EGF-like 12; calcium-binding (Potential).		O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37	c.3167G>A		.	.	.	.	.	.	.	.	.	.	G	16.94	3.261750	0.59431	.	.	ENSG00000090006	ENST00000204005;ENST00000308370;ENST00000396819;ENST00000243562	D;D;D;D	0.95482	-2.93;-3.72;-2.93;-3.72	4.19	4.19	0.49359	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.36200	N	0.002733	D	0.90916	0.7145	N	0.02802	-0.49	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.79784	0.993;0.917;0.917	D	0.86168	0.1598	10	0.13470	T	0.59	.	6.1177	0.20136	0.1021:0.193:0.7049:0.0	rs35089561	989;1056;1019	E7EUU1;Q8N2S1;E7ENG9	.;LTBP4_HUMAN;.	Q	1019;1056;989;110	ENSP00000204005:R1019Q;ENSP00000311905:R1056Q;ENSP00000380031:R989Q;ENSP00000243562:R110Q	ENSP00000204005:R1019Q	R	+	2	0	LTBP4	45814867	0.655000	0.27376	1.000000	0.80357	0.992000	0.81027	0.952000	0.29149	2.330000	0.79161	0.563000	0.77884	CGG		0.622	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		3	30	0	0	0	1	0	3	30				
AREL1	9870	broad.mit.edu	37	14	75179734	75179734	+	5'UTR	SNP	C	C	G	rs2270425	byFrequency	TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr14:75179734C>G	ENST00000356357.4	-	0	84				FCF1_ENST00000341162.4_5'Flank|SNORA7_ENST00000410672.1_RNA|AC007956.1_ENST00000338772.5_Missense_Mutation_p.V23L|FCF1_ENST00000534938.2_5'Flank|AREL1_ENST00000557401.1_5'UTR|FCF1_ENST00000553615.1_5'Flank	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1						apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CTCCCACCAACAGACCCCAGA	0.662													G|||	1829	0.365216	0.5696	0.3314	5008	,	,		16287	0.2272		0.2276	False		,,,				2504	0.3967					ENST00000338772.5																			0											c.(67-69)Gtt>Ctt																																						SO:0001623	5_prime_UTR_variant	0							g.chr14:75179734C>G	AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"""KIAA0317"""	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.-432G>C	14.37:g.75179734C>G						AREL1_ENST00000557401.1_5'UTR|AREL1_ENST00000356357.4_5'UTR	p.V23L							1	66	-								B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	ENST00000356357.4	37	c.67G>C	CCDS41971.1	702	0.32142857142857145	281	0.5711382113821138	112	0.30939226519337015	140	0.24475524475524477	169	0.22295514511873352	G	2.518	-0.311391	0.05422	.	.	ENSG00000214670	ENST00000338772	.	.	.	4.89	-2.06	0.07298	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.51233	P	8.20000000000265E-5	.	.	.	.	.	.	T	0.45175	-0.9279	4	0.87932	D	0	.	5.5619	0.17148	0.5233:0.2846:0.1921:0.0	rs2270425;rs52833612;rs2270425	.	.	.	L	23	.	ENSP00000340964:V23L	V	-	1	0	AC007956.1	74249487	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.212000	0.09319	-0.400000	0.07656	-0.187000	0.12897	GTT		0.662	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	NM_014821		3	18	0	0	0	1	0	3	18				
ARHGAP33	115703	broad.mit.edu	37	19	36268762	36268762	+	Silent	SNP	T	T	G			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr19:36268762T>G	ENST00000007510.4	+	3	285	c.141T>G	c.(139-141)gcT>gcG	p.A47A	ARHGAP33_ENST00000378944.5_5'UTR|ARHGAP33_ENST00000221905.1_3'UTR|ARHGAP33_ENST00000314737.5_Silent_p.A47A			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	47					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CGCGGCTGGCTGACTGCGCCC	0.592																																						ENST00000007510.4																			0				endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(139-141)gcT>gcG		Rho GTPase activating protein 33							86.0	90.0	88.0					19																	36268762		2203	4300	6503	SO:0001819	synonymous_variant	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36268762T>G	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.141T>G	19.37:g.36268762T>G						ARHGAP33_ENST00000314737.5_Silent_p.A47A|ARHGAP33_ENST00000378944.5_5'UTR|ARHGAP33_ENST00000221905.1_3'UTR	p.A47A			O14559	RHG33_HUMAN			3	285	+			47					O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Silent	SNP	ENST00000007510.4	37	c.141T>G																																																																																					0.592	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		5	92	0	0	0	1	0	5	92				
C19orf33	64073	broad.mit.edu	37	19	38795250	38795250	+	Intron	SNP	G	G	A	rs45437199	byFrequency	TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr19:38795250G>A	ENST00000301246.5	+	3	239				C19orf33_ENST00000588605.1_Missense_Mutation_p.A62T|CTB-102L5.4_ENST00000591889.1_Silent_p.P129P	NM_033520.1	NP_277055.1	Q9GZP8	IMUP_HUMAN	chromosome 19 open reading frame 33							nucleus (GO:0005634)						all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCTCACTGCCGCACCTCCATC	0.672													G|||	882	0.176118	0.0598	0.2507	5008	,	,		14754	0.1478		0.2207	False		,,,				2504	0.2638					ENST00000588605.1																			0											c.(184-186)Gca>Aca		chromosome 19 open reading frame 33		G	,,,,,,,	334,4072	166.9+/-198.0	17,300,1886	34.0	37.0	36.0		,,,,,,,	-8.0	0.0	19	dbSNP_127	36	1636,6964	290.3+/-299.7	154,1328,2818	no	utr-3,utr-3,utr-3,utr-3,utr-3,utr-3,intron,utr-3	C19orf33,YIF1B	NM_001039671.2,NM_001039672.2,NM_001039673.2,NM_001145461.1,NM_001145462.1,NM_001145463.1,NM_033520.1,NM_033557.3	,,,,,,,	171,1628,4704	AA,AG,GG		19.0233,7.5806,15.1469	,,,,,,,	,,,,,,,	38795250	1970,11036	2203	4300	6503	SO:0001627	intron_variant	64073					nucleus		g.chr19:38795250G>A	AF213678	CCDS12511.1	19q13.2	2012-10-26			ENSG00000167644	ENSG00000167644			16668	protein-coding gene	gene with protein product	"""immortalization-upregulated protein"", ""HAI-2 related small protein"", ""hepatocyte growth factor activator inhibitor type 2-related small protein"""					11080599	Standard	NM_033520		Approved	IMUP-1, IMUP-2, H2RSP, IMUP	uc002ohu.1	Q9GZP8	OTTHUMG00000181894	ENST00000301246.5:c.139-14G>A	19.37:g.38795250G>A						C19orf33_ENST00000301246.5_Intron|CTB-102L5.4_ENST00000591889.1_Silent_p.P129P	p.A62T			Q9GZP8	IMUP_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		3	282	+	all_cancers(60;1.07e-06)		0					Q0P6G2|Q96H58|Q9HCR4	Missense_Mutation	SNP	ENST00000301246.5	37	c.184G>A	CCDS12511.1																																																																																				0.672	C19orf33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458168.1	NM_033520		3	30	0	0	0	1	0	3	30				
TBP	6908	broad.mit.edu	37	6	170871094	170871094	+	Silent	SNP	G	G	A			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr6:170871094G>A	ENST00000392092.2	+	3	549	c.270G>A	c.(268-270)caG>caA	p.Q90Q	TBP_ENST00000540980.1_Silent_p.Q70Q|TBP_ENST00000230354.6_Silent_p.Q90Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	90	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.622																																						ENST00000392092.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(268-270)caG>caA		TATA box binding protein							22.0	28.0	26.0					6																	170871094		1899	3721	5620	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871094G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.270G>A	6.37:g.170871094G>A						TBP_ENST00000540980.1_Silent_p.Q70Q|TBP_ENST00000230354.6_Silent_p.Q90Q	p.Q90Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	549	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	90			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.270G>A	CCDS5315.1																																																																																				0.622	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		4	58	0	0	0	1	0	4	58				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	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_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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			14	97	0	0	0	1	0	14	97				
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	lincRNA	SNP	A	A	G	rs201023195		TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr1:142713774A>G	ENST00000610091.1	-	0	1884																											CTTTTTCCACATTGTCATTTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713774A>G																													1.37:g.142713774A>G														0	831	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			6	76	0	0	0	1	0	6	76				
CCDC181	57821	broad.mit.edu	37	1	169394121	169394121	+	Silent	SNP	G	G	A	rs199771563		TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr1:169394121G>A	ENST00000367806.3	-	2	197	c.45C>T	c.(43-45)taC>taT	p.Y15Y	CCDC181_ENST00000367805.3_Silent_p.Y15Y|CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000545005.1_Silent_p.Y15Y	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	15						nucleus (GO:0005634)											AGTCATCTTCGTATTCTTCAC	0.289													G|||	1	0.000199681	0.0	0.0	5008	,	,		16372	0.001		0.0	False		,,,				2504	0.0					ENST00000545005.1																			0											c.(43-45)taC>taT		coiled-coil domain containing 181							152.0	144.0	147.0					1																	169394121		2202	4297	6499	SO:0001819	synonymous_variant	57821							g.chr1:169394121G>A	AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.45C>T	1.37:g.169394121G>A						CCDC181_ENST00000367805.3_Silent_p.Y15Y|CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367806.3_Silent_p.Y15Y	p.Y15Y							3	552	-								O60780|Q53FD5|Q5TID9|Q8TC48	Silent	SNP	ENST00000367806.3	37	c.45C>T																																																																																					0.289	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179		13	66	0	0	0	1	0	13	66				
ENTPD5	957	broad.mit.edu	37	14	74442654	74442654	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr14:74442654T>C	ENST00000334696.6	-	10	1026	c.707A>G	c.(706-708)aAg>aGg	p.K236R	ENTPD5_ENST00000557325.1_Missense_Mutation_p.K236R	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	236					'de novo' posttranslational protein folding (GO:0051084)|ATP metabolic process (GO:0046034)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|positive regulation of glycolytic process (GO:0045821)|protein N-linked glycosylation (GO:0006487)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	guanosine-diphosphatase activity (GO:0004382)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		TGTATAGAGCTTATAAGTGCT	0.378																																						ENST00000334696.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(706-708)aAg>aGg		ectonucleoside triphosphate diphosphohydrolase 5							97.0	94.0	95.0					14																	74442654		2203	4300	6503	SO:0001583	missense	957				'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity	g.chr14:74442654T>C	AF039918	CCDS9825.1	14q24	2003-10-03	2003-10-03			ENSG00000187097			3367	protein-coding gene	gene with protein product		603162	"""proto-oncogene CPH"""	CD39L4, PCPH		9271669, 9676430	Standard	NM_001249		Approved	NTPDase-5	uc010tuo.2	O75356		ENST00000334696.6:c.707A>G	14.37:g.74442654T>C	ENSP00000335246:p.Lys236Arg					ENTPD5_ENST00000557325.1_Missense_Mutation_p.K236R	p.K236R	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)	10	1026	-			236					A1L4C5|Q96RX0	Missense_Mutation	SNP	ENST00000334696.6	37	c.707A>G	CCDS9825.1	.	.	.	.	.	.	.	.	.	.	T	15.16	2.750869	0.49257	.	.	ENSG00000187097	ENST00000557325;ENST00000334696	T;T	0.12569	2.67;2.67	5.53	5.53	0.82687	.	0.226087	0.45867	D	0.000332	T	0.07593	0.0191	N	0.16066	0.365	0.80722	D	1	B;B	0.22800	0.075;0.061	B;B	0.19666	0.026;0.015	T	0.32771	-0.9894	10	0.12430	T	0.62	-15.9412	10.1855	0.42995	0.0:0.0734:0.0:0.9266	.	236;236	O75356;G3V4I0	ENTP5_HUMAN;.	R	236	ENSP00000451810:K236R;ENSP00000335246:K236R	ENSP00000335246:K236R	K	-	2	0	ENTPD5	73512407	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.300000	0.65721	2.324000	0.78689	0.533000	0.62120	AAG		0.378	ENTPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412637.1	NM_001249		9	120	0	0	0	1	0	9	120				
FAM86B2	653333	broad.mit.edu	37	8	12287928	12287928	+	Silent	SNP	T	T	C	rs369679736	byFrequency	TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr8:12287928T>C	ENST00000262365.4	-	4	272	c.273A>G	c.(271-273)aaA>aaG	p.K91K	FAM86B2_ENST00000309608.5_Intron|FAM86B2_ENST00000351291.4_Intron|FAM86B2_ENST00000393715.3_Intron	NM_001137610.1	NP_001131082.1	P0C5J1	F86B2_HUMAN	family with sequence similarity 86, member B2	91										endometrium(1)|kidney(2)	3						CCTCGTACAGTTTGTCCAAAG	0.547													t|||	12	0.00239617	0.0076	0.0	5008	,	,		30016	0.0		0.002	False		,,,				2504	0.0					ENST00000262365.4																			0				endometrium(1)|kidney(2)	3						c.(271-273)aaA>aaG		family with sequence similarity 86, member B2							54.0	49.0	51.0					8																	12287928		691	1589	2280	SO:0001819	synonymous_variant	653333							g.chr8:12287928T>C		CCDS59092.1	8p23.1	2011-07-01			ENSG00000145002	ENSG00000145002			32222	protein-coding gene	gene with protein product							Standard	NM_001137610		Approved		uc003wvt.4	P0C5J1	OTTHUMG00000165462	ENST00000262365.4:c.273A>G	8.37:g.12287928T>C						FAM86B2_ENST00000351291.4_Intron|FAM86B2_ENST00000393715.3_Intron|FAM86B2_ENST00000309608.5_Intron	p.K91K	NM_001137610.1	NP_001131082.1	P0C5J1	F86B2_HUMAN			4	272	-			91						Silent	SNP	ENST00000262365.4	37	c.273A>G	CCDS59092.1																																																																																				0.547	FAM86B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_928336		4	52	0	0	0	1	0	4	52				
MAN2B2	23324	broad.mit.edu	37	4	6599987	6599987	+	Silent	SNP	G	G	A	rs373027055		TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr4:6599987G>A	ENST00000285599.3	+	9	1347	c.1311G>A	c.(1309-1311)acG>acA	p.T437T	MAN2B2_ENST00000504248.1_Silent_p.T386T	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	437					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						TGTACGCAACGCACCTGGCCT	0.632																																						ENST00000285599.3																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(1309-1311)acG>acA		mannosidase, alpha, class 2B, member 2		G		4,4402	8.1+/-20.4	0,4,2199	93.0	81.0	85.0		1311	3.0	1.0	4		85	0,8600		0,0,4300	no	coding-synonymous	MAN2B2	NM_015274.1		0,4,6499	AA,AG,GG		0.0,0.0908,0.0308		437/1010	6599987	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	23324				mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	g.chr4:6599987G>A	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"""core-specific lysosomal alpha-1,6-Mannosidase"""					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.1311G>A	4.37:g.6599987G>A						MAN2B2_ENST00000504248.1_Silent_p.T386T	p.T437T	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN			9	1347	+			437					Q66MP2|Q86T67	Silent	SNP	ENST00000285599.3	37	c.1311G>A	CCDS33951.1	.	.	.	.	.	.	.	.	.	.	G	3.333	-0.136334	0.06711	9.08E-4	0.0	ENSG00000013288	ENST00000505907	.	.	.	4.86	2.95	0.34219	.	.	.	.	.	T	0.44808	0.1311	.	.	.	0.44985	D	0.998	.	.	.	.	.	.	T	0.34601	-0.9822	4	.	.	.	-16.8918	2.5046	0.04642	0.1978:0.1547:0.5072:0.1404	.	.	.	.	H	436	.	.	R	+	2	0	MAN2B2	6650888	0.779000	0.28652	0.969000	0.41365	0.334000	0.28698	0.094000	0.15107	0.987000	0.38709	0.655000	0.94253	CGC		0.632	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		6	95	0	0	0	1	0	6	95				
HSPD1	3329	broad.mit.edu	37	2	198352636	198352636	+	Silent	SNP	A	A	T			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr2:198352636A>T	ENST00000388968.3	-	11	1782	c.1515T>A	c.(1513-1515)gcT>gcA	p.A505A	HSPD1_ENST00000345042.2_Silent_p.A505A	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	505					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			CTCCAGCCATAGCATCATAAC	0.348																																						ENST00000388968.3																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17						c.(1513-1515)gcT>gcA		heat shock 60kDa protein 1 (chaperonin)							75.0	74.0	74.0					2																	198352636		2203	4300	6503	SO:0001819	synonymous_variant	3329				'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding	g.chr2:198352636A>T	M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"""Heat Shock Proteins / Chaperonins"""	5261	protein-coding gene	gene with protein product		118190	"""heat shock 60kD protein 1 (chaperonin)"", ""spastic paraplegia 13 (autosomal dominant)"""	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.1515T>A	2.37:g.198352636A>T						HSPD1_ENST00000345042.2_Silent_p.A505A	p.A505A	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	Epithelial(96;0.225)		11	1782	-			505					B2R5M6|B7Z712|Q38L19|Q9UCR6	Silent	SNP	ENST00000388968.3	37	c.1515T>A	CCDS33357.1																																																																																				0.348	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	NM_002156		5	78	0	0	0	1	0	5	78				
AHR	196	broad.mit.edu	37	7	17379139	17379139	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr7:17379139A>T	ENST00000242057.4	+	10	2333	c.1690A>T	c.(1690-1692)Aat>Tat	p.N564Y	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	564					apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	ATTTTTCAGAAATGATTTTTC	0.353																																						ENST00000242057.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33						c.(1690-1692)Aat>Tat		aryl hydrocarbon receptor							56.0	64.0	61.0					7																	17379139		2203	4299	6502	SO:0001583	missense	196				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr7:17379139A>T	L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"""Basic helix-loop-helix proteins"""	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.1690A>T	7.37:g.17379139A>T	ENSP00000242057:p.Asn564Tyr					AHR_ENST00000492120.1_3'UTR	p.N564Y	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN			10	2333	+	Lung NSC(10;0.0392)|all_lung(11;0.0754)		564					A4D130|Q13728|Q13803|Q13804	Missense_Mutation	SNP	ENST00000242057.4	37	c.1690A>T	CCDS5366.1	.	.	.	.	.	.	.	.	.	.	A	13.68	2.308494	0.40895	.	.	ENSG00000106546	ENST00000242057	T	0.24538	1.85	6.02	-2.33	0.06724	.	0.550751	0.19833	N	0.105055	T	0.18045	0.0433	L	0.48362	1.52	0.09310	N	1	B	0.34103	0.437	B	0.35859	0.212	T	0.13415	-1.0510	10	0.72032	D	0.01	.	4.5288	0.11995	0.5462:0.0:0.2422:0.2116	.	564	P35869	AHR_HUMAN	Y	564	ENSP00000242057:N564Y	ENSP00000242057:N564Y	N	+	1	0	AHR	17345664	0.009000	0.17119	0.349000	0.25694	0.923000	0.55619	0.341000	0.19909	-0.375000	0.07955	0.528000	0.53228	AAT		0.353	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621		33	112	0	0	0	1	0	33	112				
P2RX1	5023	broad.mit.edu	37	17	3801122	3801122	+	Missense_Mutation	SNP	T	T	C	rs34617528	byFrequency	TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr17:3801122T>C	ENST00000225538.3	-	12	1460	c.1186A>G	c.(1186-1188)Atg>Gtg	p.M396V		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	396			M -> V (in dbSNP:rs34617528).		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ceramide biosynthetic process (GO:0046513)|insemination (GO:0007320)|ion transport (GO:0006811)|neuronal action potential (GO:0019228)|platelet activation (GO:0030168)|positive regulation of ion transport (GO:0043270)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of vascular smooth muscle contraction (GO:0003056)|response to ATP (GO:0033198)|serotonin secretion by platelet (GO:0002554)|signal transduction (GO:0007165)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|vasoconstriction (GO:0042310)	external side of cell outer membrane (GO:0031240)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		GATGTCCTCATGTTCTCCTGC	0.647													T|||	38	0.00758786	0.0287	0.0	5008	,	,		7004	0.0		0.0	False		,,,				2504	0.0					ENST00000225538.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13						c.(1186-1188)Atg>Gtg		purinergic receptor P2X, ligand-gated ion channel, 1		T	VAL/MET	96,4310	78.8+/-117.2	3,90,2110	85.0	75.0	78.0		1186	0.9	1.0	17	dbSNP_126	78	2,8598	1.2+/-3.3	0,2,4298	yes	missense	P2RX1	NM_002558.2	21	3,92,6408	CC,CT,TT		0.0233,2.1788,0.7535	benign	396/400	3801122	98,12908	2203	4300	6503	SO:0001583	missense	5023				platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	g.chr17:3801122T>C	X83688	CCDS11040.1	17p13.3	2012-01-17				ENSG00000108405		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8533	protein-coding gene	gene with protein product		600845				8834001	Standard	NM_002558		Approved	P2X1	uc002fww.3	P51575		ENST00000225538.3:c.1186A>G	17.37:g.3801122T>C	ENSP00000225538:p.Met396Val						p.M396V	NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN		LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)	12	1460	-			396		M -> V (in dbSNP:rs34617528).			Q9UK84	Missense_Mutation	SNP	ENST00000225538.3	37	c.1186A>G	CCDS11040.1	10	0.004578754578754579	10	0.02032520325203252	0	0.0	0	0.0	0	0.0	T	7.222	0.597515	0.13875	0.021788	2.33E-4	ENSG00000108405	ENST00000225538	T	0.03951	3.75	4.74	0.921	0.19403	.	0.153918	0.42420	D	0.000701	T	0.01661	0.0053	L	0.36672	1.1	0.29771	N	0.834759	B	0.06786	0.001	B	0.06405	0.002	T	0.25745	-1.0123	10	0.37606	T	0.19	-24.6451	5.1163	0.14836	0.0:0.0967:0.3566:0.5467	rs34617528	396	P51575	P2RX1_HUMAN	V	396	ENSP00000225538:M396V	ENSP00000225538:M396V	M	-	1	0	P2RX1	3747871	1.000000	0.71417	1.000000	0.80357	0.181000	0.23173	0.566000	0.23593	0.350000	0.24002	-0.707000	0.03653	ATG		0.647	P2RX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438391.1	NM_002558		4	29	0	0	0	1	0	4	29				
CD93	22918	broad.mit.edu	37	20	23065825	23065825	+	Silent	SNP	C	C	T	rs199653820	byFrequency	TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr20:23065825C>T	ENST00000246006.4	-	1	1152	c.1005G>A	c.(1003-1005)caG>caA	p.Q335Q		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	335	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TCGAGTCCAGCTGGTACCCTT	0.637													C|||	7	0.00139776	0.0053	0.0	5008	,	,		17579	0.0		0.0	False		,,,				2504	0.0					ENST00000246006.4																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1003-1005)caG>caA		CD93 molecule		C		2,4402	4.2+/-10.8	0,2,2200	30.0	33.0	32.0		1005	1.7	1.0	20		32	0,8600		0,0,4300	no	coding-synonymous	CD93	NM_012072.3		0,2,6500	TT,TC,CC		0.0,0.0454,0.0154		335/653	23065825	2,13002	2202	4300	6502	SO:0001819	synonymous_variant	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23065825C>T	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.1005G>A	20.37:g.23065825C>T							p.Q335Q	NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN			1	1152	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		335			EGF-like 2.		O00274	Silent	SNP	ENST00000246006.4	37	c.1005G>A	CCDS13149.1																																																																																				0.637	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		4	63	0	0	0	1	0	4	63				
C10orf82	143379	broad.mit.edu	37	10	118424279	118424279	+	Missense_Mutation	SNP	A	A	G	rs201735695		TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr10:118424279A>G	ENST00000369210.3	-	4	508	c.454T>C	c.(454-456)Tat>Cat	p.Y152H	C10orf82_ENST00000588184.1_Missense_Mutation_p.Y152H	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	152										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		CACTCTTCATATGGTTTCAGA	0.527													A|||	1	0.000199681	0.0	0.0014	5008	,	,		19224	0.0		0.0	False		,,,				2504	0.0					ENST00000369210.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(454-456)Tat>Cat		chromosome 10 open reading frame 82		A	HIS/TYR	2,4404	4.2+/-10.8	0,2,2201	164.0	131.0	143.0		454	6.1	0.8	10		143	0,8600		0,0,4300	no	missense	C10orf82	NM_144661.2	83	0,2,6501	GG,GA,AA		0.0,0.0454,0.0154	possibly-damaging	152/155	118424279	2,13004	2203	4300	6503	SO:0001583	missense	143379							g.chr10:118424279A>G	BC021737	CCDS7596.1	10q26.12	2012-05-31			ENSG00000165863	ENSG00000165863			28500	protein-coding gene	gene with protein product						12477932	Standard	NM_144661		Approved	MGC33547, Em:AC016825.4	uc001lcr.3	Q8WW14	OTTHUMG00000019105	ENST00000369210.3:c.454T>C	10.37:g.118424279A>G	ENSP00000358212:p.Tyr152His					C10orf82_ENST00000588184.1_Missense_Mutation_p.Y152H	p.Y152H	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN		all cancers(201;0.0143)	4	508	-			152					B3KUM9|D3DRC3	Missense_Mutation	SNP	ENST00000369210.3	37	c.454T>C	CCDS7596.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	A	19.91	3.915110	0.73098	4.54E-4	0.0	ENSG00000165863	ENST00000369210;ENST00000388884	T	0.46063	0.88	6.08	6.08	0.98989	.	0.102926	0.44097	D	0.000481	T	0.62756	0.2454	M	0.70595	2.14	0.30790	N	0.741067	D	0.89917	1.0	D	0.74674	0.984	T	0.68918	-0.5282	10	0.87932	D	0	-16.2097	13.0356	0.58870	1.0:0.0:0.0:0.0	.	152	Q8WW14	CJ082_HUMAN	H	152	ENSP00000358212:Y152H	ENSP00000358212:Y152H	Y	-	1	0	C10orf82	118414269	0.335000	0.24748	0.761000	0.31378	0.876000	0.50452	4.190000	0.58365	2.333000	0.79357	0.533000	0.62120	TAT		0.527	C10orf82-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000050527.1	NM_144661		7	143	0	0	0	1	0	7	143				
PLCL1	5334	broad.mit.edu	37	2	198950679	198950679	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr2:198950679C>T	ENST00000428675.1	+	2	2836	c.2438C>T	c.(2437-2439)aCg>aTg	p.T813M	PLCL1_ENST00000437704.2_Missense_Mutation_p.T715M	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	813	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.T715M(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GGGCAATATACGATACCATTT	0.443																																						ENST00000428675.1																			1	Substitution - Missense(1)	p.T715M(1)	prostate(1)	autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(2437-2439)aCg>aTg		phospholipase C-like 1	Quinacrine(DB01103)						203.0	185.0	191.0					2																	198950679		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950679C>T	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2438C>T	2.37:g.198950679C>T	ENSP00000402861:p.Thr813Met					PLCL1_ENST00000437704.2_Missense_Mutation_p.T715M	p.T813M	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			2	2836	+			813			C2.		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.2438C>T	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	C	17.05	3.291111	0.59976	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.14766	2.48;2.48	5.5	5.5	0.81552	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.170853	0.41712	D	0.000836	T	0.53126	0.1777	H	0.95187	3.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.66677	-0.5863	9	.	.	.	.	19.5916	0.95514	0.0:1.0:0.0:0.0	.	813;739	Q15111;B4DYZ4	PLCL1_HUMAN;.	M	813;715	ENSP00000402861:T813M;ENSP00000414138:T715M	.	T	+	2	0	PLCL1	198658924	1.000000	0.71417	0.224000	0.23877	0.930000	0.56654	7.641000	0.83368	2.861000	0.98227	0.655000	0.94253	ACG		0.443	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		15	124	0	0	0	1	0	15	124				
ZBTB20	26137	broad.mit.edu	37	3	114070191	114070191	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr3:114070191G>C	ENST00000474710.1	-	4	912	c.734C>G	c.(733-735)tCg>tGg	p.S245W	ZBTB20_ENST00000357258.3_Missense_Mutation_p.S172W|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000464560.1_Missense_Mutation_p.S172W|ZBTB20_ENST00000471418.1_Missense_Mutation_p.S172W|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000462705.1_Missense_Mutation_p.S172W|ZBTB20_ENST00000393785.2_Missense_Mutation_p.S172W|ZBTB20_ENST00000481632.1_Missense_Mutation_p.S172W|ZBTB20-AS1_ENST00000475939.1_RNA	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	245						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTAGAGTGCCGAGTAGATCCT	0.672																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(514-516)tCg>tGg		zinc finger and BTB domain containing 20							86.0	77.0	80.0					3																	114070191		2203	4300	6503	SO:0001583	missense	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114070191G>C	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.734C>G	3.37:g.114070191G>C	ENSP00000419153:p.Ser245Trp					ZBTB20_ENST00000481632.1_Missense_Mutation_p.S172W|ZBTB20_ENST00000393785.2_Missense_Mutation_p.S172W|ZBTB20_ENST00000464560.1_Missense_Mutation_p.S172W|ZBTB20_ENST00000357258.3_Missense_Mutation_p.S172W|ZBTB20_ENST00000471418.1_Missense_Mutation_p.S172W|ZBTB20_ENST00000474710.1_Missense_Mutation_p.S245W	p.S172W	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	11	1336	-			245					Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	c.515C>G	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647945	0.67358	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.11277	2.82;2.82;2.82;2.82;2.79;2.82;2.82	5.52	5.52	0.82312	.	0.062557	0.64402	D	0.000003	T	0.20577	0.0495	N	0.24115	0.695	0.80722	D	1	D	0.71674	0.998	P	0.61658	0.892	T	0.00875	-1.1531	10	0.87932	D	0	.	19.6361	0.95733	0.0:0.0:1.0:0.0	.	245	Q9HC78	ZBT20_HUMAN	W	172;172;172;172;245;172;172	ENSP00000420324:S172W;ENSP00000377375:S172W;ENSP00000418092:S172W;ENSP00000419902:S172W;ENSP00000419153:S245W;ENSP00000349803:S172W;ENSP00000417307:S172W	ENSP00000349803:S172W	S	-	2	0	ZBTB20	115552881	1.000000	0.71417	0.989000	0.46669	0.949000	0.60115	9.017000	0.93651	2.878000	0.98634	0.650000	0.86243	TCG		0.672	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		13	104	0	0	0	1	0	13	104				
NUP98	4928	broad.mit.edu	37	11	3716782	3716782	+	Missense_Mutation	SNP	C	C	T	rs144659895	byFrequency	TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr11:3716782C>T	ENST00000324932.7	-	26	4484	c.4064G>A	c.(4063-4065)cGg>cAg	p.R1355Q	NUP98_ENST00000488828.1_5'UTR|NUP98_ENST00000355260.3_Missense_Mutation_p.R1355Q|NUP98_ENST00000359171.4_Missense_Mutation_p.R1355Q	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1372					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GAGCAGCTCCCGGACTGACTG	0.473			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								C|||	2	0.000399361	0.0	0.0	5008	,	,		16995	0.0		0.002	False		,,,				2504	0.0					ENST00000324932.7				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""		AML		0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(4063-4065)cGg>cAg		nucleoporin 98kDa		C	GLN/ARG,GLN/ARG	0,4402		0,0,2201	118.0	116.0	117.0		4064,4064	4.3	1.0	11	dbSNP_134	117	8,8588	6.4+/-24.3	0,8,4290	yes	missense,missense	NUP98	NM_016320.4,NM_139132.3	43,43	0,8,6491	TT,TC,CC		0.0931,0.0,0.0615	probably-damaging,probably-damaging	1355/1801,1355/1727	3716782	8,12990	2201	4298	6499	SO:0001583	missense	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3716782C>T	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.4064G>A	11.37:g.3716782C>T	ENSP00000316032:p.Arg1355Gln					NUP98_ENST00000359171.4_Missense_Mutation_p.R1355Q|NUP98_ENST00000488828.1_5'UTR|NUP98_ENST00000355260.3_Missense_Mutation_p.R1355Q	p.R1355Q	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	26	4484	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	1372					Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	c.4064G>A	CCDS7746.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	22.5	4.304812	0.81247	0.0	9.31E-4	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260	.	.	.	5.25	4.33	0.51752	.	0.059710	0.64402	N	0.000002	T	0.52041	0.1710	M	0.74881	2.28	0.44018	D	0.996739	P;B;P	0.42039	0.769;0.316;0.641	B;B;B	0.30029	0.08;0.04;0.11	T	0.59204	-0.7498	9	0.48119	T	0.1	-9.6206	13.1234	0.59340	0.0:0.9225:0.0:0.0775	.	1355;1355;1269	P52948-2;P52948-5;P52948-6	.;.;.	Q	1355	.	ENSP00000316032:R1355Q	R	-	2	0	NUP98	3673358	0.997000	0.39634	1.000000	0.80357	0.880000	0.50808	4.468000	0.60162	1.350000	0.45770	0.558000	0.71614	CGG		0.473	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		9	145	0	0	0	1	0	9	145				
FAM86JP	100125556	broad.mit.edu	37	3	125643940	125643940	+	RNA	SNP	C	C	G	rs143065094	byFrequency	TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr3:125643940C>G	ENST00000485843.1	+	0	464					NR_024251.1				family with sequence similarity 86, member J, pseudogene																		GACATGCCAGCTGTTCACCAC	0.662													.|||	790	0.157748	0.1619	0.1326	5008	,	,		15875	0.0972		0.2147	False		,,,				2504	0.1738					ENST00000485843.1																			0																																																			0							g.chr3:125643940C>G			3q21.2	2012-06-28			ENSG00000171084	ENSG00000171084			44097	pseudogene	pseudogene							Standard	NR_024250		Approved		uc003eif.4		OTTHUMG00000159586		3.37:g.125643940C>G								NR_024251.1						0	464	+									RNA	SNP	ENST00000485843.1	37																																																																																						0.662	FAM86JP-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000356339.1	NR_024251		6	133	0	0	0	1	0	6	133				
NBPF10	100132406	broad.mit.edu	37	1	145365372	145365372	+	Missense_Mutation	SNP	C	C	G	rs4126496	byFrequency	TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr1:145365372C>G	ENST00000342960.5	+	80	10032	c.9997C>G	c.(9997-9999)Ctt>Gtt	p.L3333V	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	647						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TTCAGGTTGTCTTGAACTGTG	0.488													.|||	1218	0.243211	0.1377	0.3674	5008	,	,		33448	0.1627		0.3887	False		,,,				2504	0.2311					ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(9997-9999)Ctt>Gtt		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145365372C>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.9997C>G	1.37:g.145365372C>G	ENSP00000345684:p.Leu3333Val					NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	p.L3333V	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	80	10032	+	all_hematologic(923;0.032)		3333					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.9997C>G	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	7.899	0.734062	0.15574	.	.	ENSG00000163386	ENST00000342960	T	0.07216	3.21	0.74	0.74	0.18330	.	.	.	.	.	T	0.02193	0.0068	L	0.36672	1.1	0.80722	P	0.0	.	.	.	.	.	.	T	0.47262	-0.9131	6	0.17369	T	0.5	.	4.8933	0.13737	0.0:1.0:0.0:0.0	rs4126496	.	.	.	V	3333	ENSP00000345684:L3333V	ENSP00000345684:L3333V	L	+	1	0	NBPF10	144076729	0.002000	0.14202	0.001000	0.08648	0.018000	0.09664	1.024000	0.30077	0.725000	0.32318	0.152000	0.16155	CTT		0.488	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		5	91	0	0	0	1	0	5	91				
BCRP7	100133163	broad.mit.edu	37	22	18846006	18846006	+	3'UTR	SNP	A	A	G			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr22:18846006A>G	ENST00000412938.1	+	0	3364																											GCGCAGGCCGACACTCACTGA	0.617																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18846006A>G																												ENST00000412938.1:c.*3361A>G	22.37:g.18846006A>G														0	3364	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.617	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			4	48	0	0	0	1	0	4	48				
SBF1	6305	broad.mit.edu	37	22	50898008	50898008	+	Silent	SNP	G	G	A	rs374190021		TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr22:50898008G>A	ENST00000390679.3	-	27	3763	c.3579C>T	c.(3577-3579)ccC>ccT	p.P1193P	SBF1_ENST00000348911.6_Silent_p.P1194P|SBF1_ENST00000476293.1_5'Flank|SBF1_ENST00000380817.3_Silent_p.P1193P			O95248	MTMR5_HUMAN	SET binding factor 1	1193	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		AGCAGACCACGGGGAAGCGGT	0.677																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(3577-3579)ccC>ccT		SET binding factor 1		G		5,4221		0,5,2108	19.0	22.0	21.0		3579	-9.4	0.9	22		21	3,8431		0,3,4214	no	coding-synonymous	SBF1	NM_002972.2		0,8,6322	AA,AG,GG		0.0356,0.1183,0.0632		1193/1894	50898008	8,12652	2113	4217	6330	SO:0001819	synonymous_variant	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50898008G>A	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.3579C>T	22.37:g.50898008G>A						SBF1_ENST00000390679.3_Silent_p.P1193P|SBF1_ENST00000348911.6_Silent_p.P1194P	p.P1193P	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	27	3762	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1193			Myotubularin phosphatase.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Silent	SNP	ENST00000390679.3	37	c.3579C>T																																																																																					0.677	SBF1-201	KNOWN	basic	protein_coding	protein_coding				4	48	0	0	0	1	0	4	48				
PRAMEF17	391004	broad.mit.edu	37	1	13718582	13718582	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr1:13718582delG	ENST00000376098.4	+	3	1071	c.1045delG	c.(1045-1047)gctfs	p.A349fs		NM_001099851.1	NP_001093321.1	Q5VTA0	PRA17_HUMAN	PRAME family member 17	349					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					kidney(1)|lung(2)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAAAGTTGCTGCTACTCTCGA	0.547																																						ENST00000376098.4																			0				kidney(1)|lung(2)	3						c.(1045-1047)ctfs		PRAME family member 17							13.0	33.0	28.0					1																	13718582		707	2215	2922	SO:0001589	frameshift_variant	391004							g.chr1:13718582delG		CCDS41264.1	1p36.21	2013-01-17			ENSG00000204479	ENSG00000204479		"""-"""	29485	protein-coding gene	gene with protein product							Standard	NM_001099851		Approved	OTTHUMG00000007909	uc009vnz.1	Q5VTA0	OTTHUMG00000007909	ENST00000376098.4:c.1045delG	1.37:g.13718582delG	ENSP00000365266:p.Ala349fs						p.A349fs	NM_001099851.1	NP_001093321.1	Q5VTA0	PRA17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	1071	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	349					B2RUU4	Frame_Shift_Del	DEL	ENST00000376098.4	37	c.1045delG	CCDS41264.1																																																																																				0.547	PRAMEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021780.2	NM_001099851		6	7						6	7	---	---	---	---
CROCCP2	84809	broad.mit.edu	37	1	16958130	16958131	+	lincRNA	DEL	AA	AA	-			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr1:16958130_16958131delAA	ENST00000412962.1	-	0	74							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TGAGGGAGACAAAGAGTGGTCG	0.624																																						ENST00000412962.1																			0																																																			0							g.chr1:16958130_16958131delAA	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16958130_16958131delAA														0	74	-								Q8NF65|Q96FR5|Q9BRE8	RNA	DEL	ENST00000412962.1	37																																																																																						0.624	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		3	4						3	4	---	---	---	---
RHOA	387	broad.mit.edu	37	3	49395674	49395676	+	IGR	DEL	GCC	GCC	-	rs71077799|rs56041243|rs139760138|rs17838762	byFrequency	TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr3:49395674_49395676delGCC	ENST00000418115.1	-	0	2031				GPX1_ENST00000419349.1_In_Frame_Del_p.12_13AA>A|GPX1_ENST00000419783.1_In_Frame_Del_p.12_13AA>A|GPX1_ENST00000496791.1_5'UTR	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A						actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)	p.A12_A13delAA(1)		cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CACCGACTGGgccgccgccgccg	0.69														3825	0.763778	0.5257	0.7406	5008	,	,		9124	0.9742		0.7386	False		,,,				2504	0.911					ENST00000419783.1																			1	Deletion - In frame(1)	p.A12_A13delAA(1)	breast(1)	breast(1)|large_intestine(2)|lung(1)	4						c.(34-39)gcc>gc		glutathione peroxidase 1	Glutathione(DB00143)																																			SO:0001628	intergenic_variant	2876				anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding	g.chr3:49395674_49395676delGCC	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838		3.37:g.49395683_49395685delGCC						GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419349.1_In_Frame_Del_p.AA12del	p.AA12del	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	357_359	-			12					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	In_Frame_Del	DEL	ENST00000418115.1	37	c.36_38delGGC	CCDS2795.1																																																																																				0.690	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		4	4						4	4	---	---	---	---
RP11-478C19.2	0	broad.mit.edu	37	12	110868215	110868216	+	RNA	DEL	GT	GT	-	rs113592903		TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr12:110868215_110868216delGT	ENST00000550231.1	-	0	97																											CAgtgtgtgcgtgtgtgtgtgt	0.49																																						ENST00000550231.1																			0																																																			0							g.chr12:110868215_110868216delGT																													12.37:g.110868225_110868226delGT														0	97	-									RNA	DEL	ENST00000550231.1	37																																																																																						0.490	RP11-478C19.2-001	KNOWN	basic|readthrough_transcript	retained_intron	processed_transcript	OTTHUMT00000404601.1			3	4						3	4	---	---	---	---
IRF2BPL	64207	broad.mit.edu	37	14	77492681	77492681	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr14:77492681delG	ENST00000238647.3	-	1	2353	c.1455delC	c.(1453-1455)ttcfs	p.F485fs		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	485					development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						CGCCCTCCTTGAAGAAGCGCA	0.662																																						ENST00000238647.3																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						c.(1453-1455)ttfs		interferon regulatory factor 2 binding protein-like							9.0	9.0	9.0					14																	77492681		2193	4273	6466	SO:0001589	frameshift_variant	64207					nucleus		g.chr14:77492681delG	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"""enhanced at puberty 1"""	611720	"""chromosome 14 open reading frame 4"""	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.1455delC	14.37:g.77492681delG	ENSP00000238647:p.Phe485fs						p.F485fs	NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN			1	2353	-			485					Q8NDQ2|Q96JG2|Q9H3I7	Frame_Shift_Del	DEL	ENST00000238647.3	37	c.1455delC	CCDS9854.1																																																																																				0.662	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		5	9						5	9	---	---	---	---
CHD2	1106	broad.mit.edu	37	15	93545433	93545434	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr15:93545433_93545434insA	ENST00000394196.4	+	33	5232_5233	c.4164_4165insA	c.(4165-4167)aaafs	p.K1389fs	CHD2_ENST00000557381.1_Frame_Shift_Ins_p.K1389fs	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1389					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAAGTCCAATgaaaaaaaaaca	0.337																																						ENST00000394196.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(4162-4167)ataaaafs		chromodomain helicase DNA binding protein 2																																				SO:0001589	frameshift_variant	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93545433_93545434insA	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.4173dupA	15.37:g.93545442_93545442dupA	ENSP00000377747:p.Lys1389fs					CHD2_ENST00000557381.1_Frame_Shift_Ins_p.IK1388fs	p.IK1388fs	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		33	5232_5233	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1388					C6G482|Q96IP5	Frame_Shift_Ins	INS	ENST00000394196.4	37	c.4164_4165insA	CCDS10374.2																																																																																				0.337	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		7	133						7	133	---	---	---	---
RP11-178C3.1	0	broad.mit.edu	37	17	58050857	58050857	+	IGR	DEL	G	G	-	rs375748922		TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr17:58050857delG	ENST00000591035.1	+	0	481				RP11-178C3.2_ENST00000586209.1_lincRNA																							TTTTTTTTTTGGCAGTTTTTA	0.423																																						ENST00000586209.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:58050857delG																													17.37:g.58050857delG														0	158	+									RNA	DEL	ENST00000591035.1	37																																																																																						0.423	RP11-178C3.1-001	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000449157.1			3	6						3	6	---	---	---	---
