#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
OR10J5	127385	broad.mit.edu	37	1	159505463	159505463	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr1:159505463C>T	ENST00000334857.2	-	1	379	c.335G>A	c.(334-336)tGc>tAc	p.C112Y		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					AAGCAGGAAGCAATTATTAGT	0.468																																						ENST00000334857.2																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(334-336)tGc>tAc		olfactory receptor, family 10, subfamily J, member 5							120.0	104.0	110.0					1																	159505463		2203	4300	6503	SO:0001583	missense	127385				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159505463C>T		CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"""GPCR / Class A : Olfactory receptors"""	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.335G>A	1.37:g.159505463C>T	ENSP00000334441:p.Cys112Tyr						p.C112Y	NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN			1	379	-	all_hematologic(112;0.0429)		112					B9EH35|Q6IFH2	Missense_Mutation	SNP	ENST00000334857.2	37	c.335G>A	CCDS30910.1	.	.	.	.	.	.	.	.	.	.	C	4.132	0.022855	0.08006	.	.	ENSG00000184155	ENST00000334857	T	0.02121	4.44	4.32	3.38	0.38709	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.02083	0.0065	M	0.84683	2.71	0.09310	N	1	B	0.31859	0.343	B	0.36030	0.216	T	0.33650	-0.9860	9	0.66056	D	0.02	.	7.453	0.27250	0.1913:0.6235:0.1852:0.0	.	112	Q8NHC4	O10J5_HUMAN	Y	112	ENSP00000334441:C112Y	ENSP00000334441:C112Y	C	-	2	0	OR10J5	157772087	0.000000	0.05858	0.901000	0.35422	0.107000	0.19398	-0.739000	0.04866	1.132000	0.42129	0.467000	0.42956	TGC		0.468	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059021.1	NM_001004469		39	50	0	0	0	1	0	39	50				
PCDH9	5101	broad.mit.edu	37	13	67800158	67800158	+	Silent	SNP	T	T	C			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr13:67800158T>C	ENST00000377865.2	-	1	2549	c.2415A>G	c.(2413-2415)caA>caG	p.Q805Q	PCDH9_ENST00000544246.1_Silent_p.Q805Q|PCDH9_ENST00000377861.3_Silent_p.Q805Q|PCDH9_ENST00000456367.1_Silent_p.Q805Q|PCDH9_ENST00000328454.5_Silent_p.Q805Q			Q9HC56	PCDH9_HUMAN	protocadherin 9	805					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TTTGATAGGGTTGGCTACTAT	0.483																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(2413-2415)caA>caG		protocadherin 9							235.0	213.0	220.0					13																	67800158		2203	4300	6503	SO:0001819	synonymous_variant	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67800158T>C	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.2415A>G	13.37:g.67800158T>C						PCDH9_ENST00000377861.3_Silent_p.Q805Q|PCDH9_ENST00000377865.2_Silent_p.Q805Q|PCDH9_ENST00000456367.1_Silent_p.Q805Q|PCDH9_ENST00000328454.5_Silent_p.Q805Q	p.Q805Q	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	3106	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	805					A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Silent	SNP	ENST00000377865.2	37	c.2415A>G	CCDS9444.1																																																																																				0.483	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		13	180	0	0	0	1	0	13	180				
PCDH7	5099	broad.mit.edu	37	4	30725853	30725853	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr4:30725853G>C	ENST00000361762.2	+	1	3817	c.2809G>C	c.(2809-2811)Gac>Cac	p.D937H	PCDH7_ENST00000543491.1_Missense_Mutation_p.D937H	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	937					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GCCTAAAAAGGACAAGAAAAA	0.398																																						ENST00000361762.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(2809-2811)Gac>Cac		protocadherin 7							82.0	84.0	83.0					4																	30725853		2203	4300	6503	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30725853G>C	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.2809G>C	4.37:g.30725853G>C	ENSP00000355243:p.Asp937His					PCDH7_ENST00000543491.1_Missense_Mutation_p.D937H	p.D937H	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN			1	3817	+			937					O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.2809G>C	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.35|16.35	3.099395|3.099395	0.56183|0.56183	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135|ENST00000511884	T;T|.	0.33216|.	1.42;1.42|.	5.16|5.16	5.16|5.16	0.70880|0.70880	Protocadherin (1);|.	.|.	.|.	.|.	.|.	T|T	0.67776|0.67776	0.2929|0.2929	L|L	0.44542|0.44542	1.39|1.39	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D|.	0.89917|.	1.0;0.999;1.0|.	D;D;D|.	0.74674|.	0.982;0.973;0.984|.	T|T	0.63310|0.63310	-0.6666|-0.6666	9|5	0.48119|.	T|.	0.1|.	.|.	18.8391|18.8391	0.92174|0.92174	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	937;890;937|.	F5GWJ1;O60245-3;O60245|.	.;.;PCDH7_HUMAN|.	H|A	937;937;890|626	ENSP00000355243:D937H;ENSP00000441802:D937H|.	ENSP00000330302:D890H|.	D|G	+|+	1|2	0|0	PCDH7|PCDH7	30334951|30334951	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.445000|7.445000	0.80570|0.80570	2.683000|2.683000	0.91414|0.91414	0.655000|0.655000	0.94253|0.94253	GAC|GGA		0.398	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		14	34	0	0	0	1	0	14	34				
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A	rs558808115		TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr4:146059006G>A	ENST00000447906.2	-	21	3108	c.2921C>T	c.(2920-2922)aCt>aTt	p.T974I	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Missense_Mutation_p.T909I			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	974					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AACAGGCACAGTTTCTCTCTC	0.463																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2725-2727)aCt>aTt		OTU domain containing 4							128.0	133.0	131.0					4																	146059006		2203	4300	6503	SO:0001583	missense	54726						protein binding	g.chr4:146059006G>A		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2921C>T	4.37:g.146059006G>A	ENSP00000395487:p.Thr974Ile					OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I|OTUD4_ENST00000455611.2_Intron	p.T909I	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			21	2863	-	all_hematologic(180;0.151)		973					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37	c.2726C>T		.	.	.	.	.	.	.	.	.	.	G	13.28	2.191504	0.38707	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.34275	1.37;1.37	6.17	5.33	0.75918	.	1.059000	0.07258	N	0.867023	T	0.32793	0.0841	N	0.24115	0.695	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.14023	0.01;0.004	T	0.02275	-1.1184	10	0.59425	D	0.04	-0.3286	15.5098	0.75772	0.0658:0.0:0.9342:0.0	.	974;973	G3V0I6;Q01804	.;OTUD4_HUMAN	I	909;974	ENSP00000409279:T909I;ENSP00000395487:T974I	ENSP00000395487:T974I	T	-	2	0	OTUD4	146278456	0.027000	0.19231	0.108000	0.21378	0.880000	0.50808	2.210000	0.42816	1.621000	0.50320	0.655000	0.94253	ACT		0.463	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		7	163	0	0	0	1	0	7	163				
SLFN11	91607	broad.mit.edu	37	17	33679774	33679774	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr17:33679774C>T	ENST00000394566.1	-	7	2579	c.2307G>A	c.(2305-2307)tgG>tgA	p.W769*	SLFN11_ENST00000308377.4_Nonsense_Mutation_p.W769*	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	769					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CACCCTGGGACCATTCGGCTT	0.443																																						ENST00000394566.1																			0				autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50						c.(2305-2307)tgG>tgA		schlafen family member 11							66.0	62.0	63.0					17																	33679774		2203	4300	6503	SO:0001587	stop_gained	91607					nucleus	ATP binding	g.chr17:33679774C>T	AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.2307G>A	17.37:g.33679774C>T	ENSP00000378067:p.Trp769*					SLFN11_ENST00000308377.4_Nonsense_Mutation_p.W769*	p.W769*	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	7	2579	-		Ovarian(249;0.17)	769					E1P643|Q8N3S8|Q8N762|Q8TEE0	Nonsense_Mutation	SNP	ENST00000394566.1	37	c.2307G>A	CCDS11294.1	.	.	.	.	.	.	.	.	.	.	c	38	6.961096	0.97964	.	.	ENSG00000172716	ENST00000308377;ENST00000394566	.	.	.	3.85	3.85	0.44370	.	0.000000	0.45606	D	0.000357	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.4779	0.50308	0.0:1.0:0.0:0.0	.	.	.	.	X	769	.	ENSP00000312402:W769X	W	-	3	0	SLFN11	30703887	0.403000	0.25319	0.264000	0.24511	0.051000	0.14879	1.241000	0.32743	2.144000	0.66660	0.655000	0.94253	TGG		0.443	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		19	30	0	0	0	1	0	19	30				
CIC	23152	broad.mit.edu	37	19	42798840	42798840	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr19:42798840G>A	ENST00000575354.2	+	19	4452	c.4412G>A	c.(4411-4413)cGg>cAg	p.R1471Q	CIC_ENST00000160740.3_Missense_Mutation_p.R1469Q|CIC_ENST00000572681.2_Missense_Mutation_p.R2377Q	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1471					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GACCAGCGCCGGGCCCTGGTC	0.612			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(7129-7131)cGg>cAg		capicua transcriptional repressor							72.0	71.0	71.0					19																	42798840		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42798840G>A	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.4412G>A	19.37:g.42798840G>A	ENSP00000458663:p.Arg1471Gln					CIC_ENST00000160740.3_Missense_Mutation_p.R1469Q|CIC_ENST00000575354.2_Missense_Mutation_p.R1471Q	p.R2377Q			Q96RK0	CIC_HUMAN			20	7198	+		Prostate(69;0.00682)	1471					Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.7130G>A	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986595	0.93106	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.59	4.59	0.56863	.	.	.	.	.	T	0.64125	0.2570	L	0.29908	0.895	0.45403	D	0.998388	D	0.71674	0.998	D	0.66602	0.945	T	0.67979	-0.5530	8	0.87932	D	0	-10.608	15.2728	0.73717	0.0:0.0:1.0:0.0	.	1471	Q96RK0	CIC_HUMAN	Q	1471	.	ENSP00000160740:R1471Q	R	+	2	0	CIC	47490680	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.532000	0.90613	2.570000	0.86706	0.491000	0.48974	CGG		0.612	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			33	24	0	0	0	1	0	33	24				
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A	rs201351032	byFrequency	TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr19:53856730G>A	ENST00000595091.1	+	5	3021	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000458035.1_Silent_p.K934K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368													.|||	271	0.0541134	0.0507	0.0576	5008	,	,		22260	0.0456		0.0924	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - coding silent(3)	p.K934K(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2800-2802)aaG>aaA		zinc finger protein 845																																				SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856730G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2802G>A	19.37:g.53856730G>A						ZNF845_ENST00000595091.1_Silent_p.K934K	p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2919	+			934						Silent	SNP	ENST00000595091.1	37	c.2802G>A	CCDS46170.1																																																																																				0.368	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		4	36	0	0	0	1	0	4	36				
PDE6C	5146	broad.mit.edu	37	10	95381756	95381756	+	Missense_Mutation	SNP	C	C	T	rs143673530		TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr10:95381756C>T	ENST00000371447.3	+	4	929	c.791C>T	c.(790-792)gCg>gTg	p.A264V		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	264	GAF 2.				phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	TTTCACAAAGCGCTCTACACG	0.388													C|||	1	0.000199681	0.0	0.0	5008	,	,		19526	0.0		0.0	False		,,,				2504	0.001					ENST00000371447.3																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42						c.(790-792)gCg>gTg		phosphodiesterase 6C, cGMP-specific, cone, alpha prime		C	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	162.0	147.0	152.0		791	4.0	0.9	10	dbSNP_134	152	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PDE6C	NM_006204.3	64	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	probably-damaging	264/859	95381756	3,13003	2203	4300	6503	SO:0001583	missense	5146				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	g.chr10:95381756C>T	U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"""Phosphodiesterases"""	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.791C>T	10.37:g.95381756C>T	ENSP00000360502:p.Ala264Val						p.A264V	NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN			4	929	+		Colorectal(252;0.123)	264			GAF 2.		A6NCR6|Q5VY29	Missense_Mutation	SNP	ENST00000371447.3	37	c.791C>T	CCDS7429.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.725480	0.48833	4.54E-4	1.16E-4	ENSG00000095464	ENST00000371447	T	0.64803	-0.12	4.85	3.95	0.45737	GAF (2);	0.099518	0.64402	N	0.000002	T	0.53126	0.1777	M	0.65975	2.015	0.80722	D	1	P	0.37370	0.592	B	0.29077	0.098	T	0.53136	-0.8481	10	0.12766	T	0.61	.	13.5343	0.61639	0.0:0.9243:0.0:0.0757	.	264	P51160	PDE6C_HUMAN	V	264	ENSP00000360502:A264V	ENSP00000360502:A264V	A	+	2	0	PDE6C	95371746	1.000000	0.71417	0.860000	0.33809	0.940000	0.58332	4.789000	0.62446	1.406000	0.46857	0.561000	0.74099	GCG		0.388	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1	NM_006204		36	57	0	0	0	1	0	36	57				
GLB1L	79411	broad.mit.edu	37	2	220103270	220103270	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr2:220103270G>A	ENST00000295759.7	-	13	1487	c.1174C>T	c.(1174-1176)Ccc>Tcc	p.P392S	GLB1L_ENST00000409640.1_Missense_Mutation_p.P302S|GLB1L_ENST00000356283.3_Missense_Mutation_p.P302S|GLB1L_ENST00000392089.2_Missense_Mutation_p.P392S|GLB1L_ENST00000497855.1_5'UTR			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	392					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCCCACGGGGGCAAAGCAAG	0.448																																						ENST00000295759.7																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(1174-1176)Ccc>Tcc		galactosidase, beta 1-like							84.0	88.0	87.0					2																	220103270		2203	4300	6503	SO:0001583	missense	79411				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr2:220103270G>A		CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.1174C>T	2.37:g.220103270G>A	ENSP00000295759:p.Pro392Ser					GLB1L_ENST00000409640.1_Missense_Mutation_p.P302S|GLB1L_ENST00000392089.2_Missense_Mutation_p.P392S|GLB1L_ENST00000356283.3_Missense_Mutation_p.P302S|GLB1L_ENST00000497855.1_5'UTR	p.P392S			Q6UWU2	GLB1L_HUMAN		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	13	1487	-		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)	392					Q96DR0	Missense_Mutation	SNP	ENST00000295759.7	37	c.1174C>T	CCDS2437.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.599018	0.28534	.	.	ENSG00000163521	ENST00000295759;ENST00000409640;ENST00000392089;ENST00000356283	D;D;D;D	0.97138	-4.26;-4.02;-4.26;-4.02	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.97185	0.9080	L	0.45352	1.415	0.80722	D	1	D;P	0.89917	1.0;0.709	D;B	0.91635	0.999;0.156	D	0.94620	0.7812	10	0.08381	T	0.77	-14.0655	18.8727	0.92322	0.0:0.0:1.0:0.0	.	302;392	Q6UWU2-2;Q6UWU2	.;GLB1L_HUMAN	S	392;302;392;302	ENSP00000295759:P392S;ENSP00000386354:P302S;ENSP00000375939:P392S;ENSP00000348628:P302S	ENSP00000295759:P392S	P	-	1	0	GLB1L	219811514	1.000000	0.71417	0.948000	0.38648	0.037000	0.13140	8.344000	0.90055	2.779000	0.95612	0.655000	0.94253	CCC		0.448	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2	NM_024506		35	65	0	0	0	1	0	35	65				
F2	2147	broad.mit.edu	37	11	46742097	46742097	+	Splice_Site	SNP	G	G	A			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr11:46742097G>A	ENST00000311907.5	+	3	321	c.265G>A	c.(265-267)Gct>Act	p.A89T	F2_ENST00000530231.1_Splice_Site_p.A89T	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	89	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	CAAGTACACAGGTGAGCACCG	0.532																																					Esophageal Squamous(147;1147 1808 2148 38609 51144)	ENST00000311907.5																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27						c.e3+1		coagulation factor II (thrombin)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)						90.0	91.0	91.0					11																	46742097		2201	4299	6500	SO:0001630	splice_region_variant	2147				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity	g.chr11:46742097G>A	M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"""Endogenous ligands"""	3535	protein-coding gene	gene with protein product	"""prepro-coagulation factor II"""	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.265+1G>A	11.37:g.46742097G>A						F2_ENST00000530231.1_Splice_Site_p.A89_splice	p.A89_splice	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.146)	3	321	+		all_lung(304;0.000414)|Lung NSC(402;0.0011)	89			Gla.		B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Splice_Site	SNP	ENST00000311907.5	37	c.265_splice	CCDS31476.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242138	0.79912	.	.	ENSG00000180210	ENST00000311907;ENST00000530231;ENST00000442468	D;D;D	0.99769	-6.7;-6.7;-6.7	4.37	2.26	0.28386	Gamma-carboxyglutamic acid-rich (GLA) domain (3);	0.639349	0.16979	N	0.191791	D	0.99450	0.9805	M	0.78801	2.425	0.44388	D	0.997297	P	0.42161	0.772	P	0.46850	0.529	D	0.98395	1.0565	10	0.87932	D	0	.	14.3292	0.66541	0.0:0.2798:0.7202:0.0	.	89	P00734	THRB_HUMAN	T	89;89;79	ENSP00000308541:A89T;ENSP00000433907:A89T;ENSP00000387413:A79T	ENSP00000308541:A89T	A	+	1	0	F2	46698673	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	3.516000	0.53436	1.150000	0.42419	0.561000	0.74099	GCT		0.532	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317706.1		Missense_Mutation	4	106	0	0	0	1	0	4	106				
GGA1	26088	broad.mit.edu	37	22	38014515	38014515	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr22:38014515C>T	ENST00000343632.4	+	4	651	c.265C>T	c.(265-267)Cgc>Tgc	p.R89C	GGA1_ENST00000325180.8_Missense_Mutation_p.R89C|GGA1_ENST00000337437.4_Intron|GGA1_ENST00000406772.1_Missense_Mutation_p.R16C|GGA1_ENST00000405147.3_Missense_Mutation_p.R89C|GGA1_ENST00000381756.5_Missense_Mutation_p.R106C	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	89	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					GGGCAAGTTCCGCTTTCTCAA	0.617																																						ENST00000406772.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10						c.(46-48)Cgc>Tgc		golgi-associated, gamma adaptin ear containing, ARF binding protein 1							141.0	97.0	112.0					22																	38014515		2203	4300	6503	SO:0001583	missense	26088				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding	g.chr22:38014515C>T	AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083			17842	protein-coding gene	gene with protein product		606004				10747088, 10747089, 16407204	Standard	NM_013365		Approved		uc003atc.3	Q9UJY5	OTTHUMG00000030985	ENST00000343632.4:c.265C>T	22.37:g.38014515C>T	ENSP00000341344:p.Arg89Cys					GGA1_ENST00000405147.3_Missense_Mutation_p.R89C|GGA1_ENST00000381756.5_Missense_Mutation_p.R106C|GGA1_ENST00000337437.4_Intron|GGA1_ENST00000325180.8_Missense_Mutation_p.R89C|GGA1_ENST00000343632.4_Missense_Mutation_p.R89C	p.R16C	NM_001172688.1	NP_001166159.1	Q9UJY5	GGA1_HUMAN			5	698	+	Melanoma(58;0.0574)		89					A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Missense_Mutation	SNP	ENST00000343632.4	37	c.46C>T	CCDS13951.1	.	.	.	.	.	.	.	.	.	.	C	35	5.507971	0.96386	.	.	ENSG00000100083	ENST00000343632;ENST00000381756;ENST00000405147;ENST00000429218;ENST00000325180;ENST00000439161;ENST00000449944;ENST00000411501;ENST00000453208;ENST00000447515;ENST00000406772;ENST00000431745;ENST00000326597;ENST00000413251;ENST00000423024	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88	5.35	5.35	0.76521	VHS subgroup (1);ENTH/VHS (2);VHS (2);	0.000000	0.85682	D	0.000000	T	0.64962	0.2646	H	0.94385	3.53	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.76146	-0.3066	10	0.87932	D	0	-24.1768	19.0552	0.93062	0.0:1.0:0.0:0.0	.	106;89;89	Q6IC75;Q86YA9;Q9UJY5	.;.;GGA1_HUMAN	C	89;106;89;16;89;16;81;16;16;16;16;16;16;16;16	ENSP00000341344:R89C;ENSP00000371175:R106C;ENSP00000384030:R89C;ENSP00000403534:R16C;ENSP00000321288:R89C;ENSP00000404453:R16C;ENSP00000390416:R81C;ENSP00000400159:R16C;ENSP00000416153:R16C;ENSP00000411727:R16C;ENSP00000385287:R16C;ENSP00000402930:R16C;ENSP00000411373:R16C;ENSP00000414413:R16C	ENSP00000321288:R89C	R	+	1	0	GGA1	36344461	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.981000	0.70524	2.507000	0.84556	0.655000	0.94253	CGC		0.617	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075873.3	NM_013365		4	51	0	0	0	1	0	4	51				
PIK3CA	5290	broad.mit.edu	37	3	178916645	178916645	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr3:178916645G>C	ENST00000263967.3	+	2	189	c.32G>C	c.(31-33)tGg>tCg	p.W11S		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	11					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.W11L(2)|p.L10_M16del(1)|p.E9_R19del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GGTGAACTGTGGGGCATCCAC	0.403		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		4	Substitution - Missense(2)|Deletion - In frame(2)	p.W11L(2)|p.L10_M16del(1)|p.E9_R19del(1)	lung(2)|central_nervous_system(2)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(31-33)tGg>tCg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							52.0	52.0	52.0					3																	178916645		1856	4093	5949	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916645G>C		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.32G>C	3.37:g.178916645G>C	ENSP00000263967:p.Trp11Ser	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.W11S	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	189	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		11					Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.32G>C	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077117	0.76415	.	.	ENSG00000121879	ENST00000477735;ENST00000263967;ENST00000468036	T;D	0.83837	-1.42;-1.77	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.91243	0.7240	M	0.78456	2.415	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.90403	0.4404	10	0.40728	T	0.16	-23.3132	19.1062	0.93296	0.0:0.0:1.0:0.0	.	11	P42336	PK3CA_HUMAN	S	11	ENSP00000263967:W11S;ENSP00000417479:W11S	ENSP00000263967:W11S	W	+	2	0	PIK3CA	180399339	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.409000	0.97331	2.506000	0.84524	0.650000	0.86243	TGG		0.403	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			29	28	0	0	0	1	0	29	28				
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs200114728	byFrequency	TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr19:53856702G>A	ENST00000595091.1	+	5	2993	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000458035.1_Missense_Mutation_p.R925H			Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363													.|||	267	0.0533147	0.0484	0.0562	5008	,	,		21751	0.0466		0.0915	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - Missense(3)	p.R925H(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2773-2775)cGt>cAt		zinc finger protein 845							33.0	30.0	31.0					19																	53856702		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856702G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2774G>A	19.37:g.53856702G>A	ENSP00000470005:p.Arg925His					ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2891	+			925						Missense_Mutation	SNP	ENST00000595091.1	37	c.2774G>A	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	5.812	0.334080	0.11013	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.36157	1.27	2.0	-4.0	0.04057	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42585	0.1209	L	0.58302	1.8	0.09310	N	1	D	0.55800	0.973	P	0.53760	0.734	T	0.43925	-0.9361	9	0.51188	T	0.08	.	10.7803	0.46374	0.0:0.6804:0.1821:0.1375	.	925	Q96IR2	ZN845_HUMAN	H	925;841	ENSP00000388311:R925H	ENSP00000412086:R841H	R	+	2	0	ZNF845	58548514	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.662000	0.00032	-1.603000	0.01597	-0.499000	0.04595	CGT		0.363	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		4	43	0	0	0	1	0	4	43				
SFTA3	253970	broad.mit.edu	37	14	36946257	36946257	+	Silent	SNP	G	G	A			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr14:36946257G>A	ENST00000518529.2	-	3	855	c.180C>T	c.(178-180)tgC>tgT	p.C60C	SFTA3_ENST00000518987.1_Intron|RP11-896J10.3_ENST00000521945.1_RNA	NM_001101341.1	NP_001094811.1	P0C7M3	SFTA3_HUMAN	surfactant associated 3	60								p.C60C(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7						GACTTGGCACGCAAACAGCGA	0.517																																						ENST00000518529.2																			1	Substitution - coding silent(1)	p.C60C(1)	lung(1)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7						c.(178-180)tgC>tgT		surfactant associated 3							173.0	181.0	178.0					14																	36946257		2135	4231	6366	SO:0001819	synonymous_variant	253970							g.chr14:36946257G>A	AY102071	CCDS45097.1	14q13.3	2014-06-19	2008-08-26	2008-08-26	ENSG00000229415	ENSG00000229415			18387	protein-coding gene	gene with protein product			"""surfactant associated protein H"""	SFTPH			Standard	NM_001101341		Approved	NANCI	uc001wtr.3	P0C7M3	OTTHUMG00000170540	ENST00000518529.2:c.180C>T	14.37:g.36946257G>A						SFTA3_ENST00000518987.1_Intron|RP11-896J10.3_ENST00000521945.1_RNA	p.C60C	NM_001101341.1	NP_001094811.1	P0C7M3	SFTA3_HUMAN			3	855	-			60						Silent	SNP	ENST00000518529.2	37	c.180C>T	CCDS45097.1																																																																																				0.517	SFTA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376217.2	NM_001101341		9	142	0	0	0	1	0	9	142				
PLIN2	123	broad.mit.edu	37	9	19116570	19116570	+	Silent	SNP	G	G	A			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr9:19116570G>A	ENST00000276914.2	-	8	1169	c.990C>T	c.(988-990)tcC>tcT	p.S330S	PLIN2_ENST00000411567.1_Silent_p.S249S	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	330					cellular lipid metabolic process (GO:0044255)|lipid storage (GO:0019915)|long-chain fatty acid transport (GO:0015909)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						CTTGGATGTTGGACAGGAGGG	0.493																																						ENST00000276914.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						c.(988-990)tcC>tcT		perilipin 2							151.0	116.0	128.0					9																	19116570		2203	4300	6503	SO:0001819	synonymous_variant	123				cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle		g.chr9:19116570G>A	X97324	CCDS6490.1	9p22.1	2009-08-12	2009-08-12	2009-08-12	ENSG00000147872	ENSG00000147872		"""Perilipins"""	248	protein-coding gene	gene with protein product	"""adipophilin"""	103195	"""adipose differentiation-related protein"""	ADFP		9003395, 19638644	Standard	NM_001122		Approved	ADRP	uc003zno.3	Q99541	OTTHUMG00000019624	ENST00000276914.2:c.990C>T	9.37:g.19116570G>A						PLIN2_ENST00000411567.1_Silent_p.S249S	p.S330S	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN			8	1169	-			330					Q9BSC3	Silent	SNP	ENST00000276914.2	37	c.990C>T	CCDS6490.1																																																																																				0.493	PLIN2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051835.1	NM_001122		4	158	0	0	0	1	0	4	158				
ZNF347	84671	broad.mit.edu	37	19	53652555	53652555	+	Silent	SNP	G	G	A	rs201753900		TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr19:53652555G>A	ENST00000334197.7	-	3	149	c.81C>T	c.(79-81)ccC>ccT	p.P27P	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000452676.2_Silent_p.P27P|ZNF347_ENST00000601469.2_Silent_p.P27P	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	27	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P27P(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TCCTCTGAGCGGGGTCCAGGC	0.502																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			1	Substitution - coding silent(1)	p.P27P(1)	lung(1)	endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(79-81)ccC>ccT		zinc finger protein 347							108.0	110.0	110.0					19																	53652555		2203	4300	6503	SO:0001819	synonymous_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53652555G>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.81C>T	19.37:g.53652555G>A						ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Silent_p.P27P|ZNF347_ENST00000601469.2_Silent_p.P27P	p.P27P	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	3	507	-			27			KRAB.		B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	37	c.81C>T	CCDS33097.1																																																																																				0.502	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		49	45	0	0	0	1	0	49	45				
DNAH10	196385	broad.mit.edu	37	12	124358200	124358200	+	Silent	SNP	C	C	T	rs369269297		TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr12:124358200C>T	ENST00000409039.3	+	45	7552	c.7527C>T	c.(7525-7527)taC>taT	p.Y2509Y		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2509	AAA 3. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAGATACTTACGGCCCACCCA	0.473																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(7525-7527)taC>taT		dynein, axonemal, heavy chain 10		C		0,3856		0,0,1928	59.0	56.0	57.0		7527	-8.0	0.0	12		57	9,8273		0,9,4132	no	coding-synonymous	DNAH10	NM_207437.3		0,9,6060	TT,TC,CC		0.1087,0.0,0.0741		2509/4472	124358200	9,12129	1928	4141	6069	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124358200C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.7527C>T	12.37:g.124358200C>T							p.Y2509Y	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	45	7552	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		2509			AAA 3 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.7527C>T	CCDS9255.2																																																																																				0.473	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			6	14	0	0	0	1	0	6	14				
CELSR1	9620	broad.mit.edu	37	22	46790148	46790148	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr22:46790148G>A	ENST00000262738.3	-	14	5854	c.5855C>T	c.(5854-5856)cCg>cTg	p.P1952L		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1952	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCTGGGGCACGGAAGGTCGAG	0.562																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(5854-5856)cCg>cTg		cadherin, EGF LAG seven-pass G-type receptor 1							40.0	39.0	39.0					22																	46790148		2203	4300	6503	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46790148G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.5855C>T	22.37:g.46790148G>A	ENSP00000262738:p.Pro1952Leu						p.P1952L	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	14	5854	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1952			EGF-like 7; calcium-binding.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.5855C>T	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466108	0.63625	.	.	ENSG00000075275	ENST00000262738	D	0.91124	-2.79	3.47	3.47	0.39725	.	0.000000	0.64402	U	0.000002	D	0.93877	0.8041	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.74023	0.982;0.767	D	0.93579	0.6911	10	0.42905	T	0.14	.	14.9317	0.70919	0.0:0.0:1.0:0.0	.	273;1952	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	L	1952	ENSP00000262738:P1952L	ENSP00000262738:P1952L	P	-	2	0	CELSR1	45168812	1.000000	0.71417	0.991000	0.47740	0.425000	0.31504	7.071000	0.76770	1.663000	0.50791	0.462000	0.41574	CCG		0.562	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		5	44	0	0	0	1	0	5	44				
BEND3	57673	broad.mit.edu	37	6	107391126	107391126	+	Silent	SNP	G	G	A			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr6:107391126G>A	ENST00000369042.1	-	4	1459	c.1269C>T	c.(1267-1269)ttC>ttT	p.F423F	BEND3_ENST00000429433.2_Silent_p.F423F			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	423	BEN 2. {ECO:0000255|PROSITE- ProRule:PRU00784}.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						TGCGGTGGTCGAAGAGCTCGG	0.622																																						ENST00000429433.2																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						c.(1267-1269)ttC>ttT		BEN domain containing 3							44.0	47.0	46.0					6																	107391126		2203	4300	6503	SO:0001819	synonymous_variant	57673							g.chr6:107391126G>A	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"""BEN domain containing"""	23040	protein-coding gene	gene with protein product			"""KIAA1553"""	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.1269C>T	6.37:g.107391126G>A						BEND3_ENST00000369042.1_Silent_p.F423F	p.F423F	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN			5	1918	-			423			BEN 2.		A2RRH2|Q9HCL9	Silent	SNP	ENST00000369042.1	37	c.1269C>T	CCDS34507.1																																																																																				0.622	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	NM_020913		3	60	0	0	0	1	0	3	60				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	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			38	55	0	0	0	1	0	38	55				
ACAD11	84129	broad.mit.edu	37	3	132277850	132277850	+	Missense_Mutation	SNP	G	G	A	rs200376706	byFrequency	TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr3:132277850G>A	ENST00000264990.6	-	20	3279	c.2308C>T	c.(2308-2310)Cgg>Tgg	p.R770W	ACAD11_ENST00000355458.3_Missense_Mutation_p.R666W|ACAD11_ENST00000545291.1_Missense_Mutation_p.R295W	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	770					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						GCTTGGTCCCGCAGCTCCATT	0.463													G|||	2	0.000399361	0.0	0.0	5008	,	,		18874	0.002		0.0	False		,,,				2504	0.0					ENST00000264990.6																			0				breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						c.(2308-2310)Cgg>Tgg		acyl-CoA dehydrogenase family, member 11							128.0	114.0	119.0					3																	132277850		2203	4299	6502	SO:0001583	missense	84129							g.chr3:132277850G>A	BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"""acyl-Coenzyme A dehydrogenase family, member 11"""				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.2308C>T	3.37:g.132277850G>A	ENSP00000264990:p.Arg770Trp					ACAD11_ENST00000545291.1_Missense_Mutation_p.R295W|ACAD11_ENST00000355458.3_Missense_Mutation_p.R666W	p.R770W	NM_032169.4	NP_115545.3					20	3279	-								Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Missense_Mutation	SNP	ENST00000264990.6	37	c.2308C>T	CCDS3074.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	7.504	0.653178	0.14580	.	.	ENSG00000240303	ENST00000355458;ENST00000264990;ENST00000545291	D;D;D	0.96300	-3.97;-3.97;-3.97	5.28	2.49	0.30216	Acyl-CoA dehydrogenase/oxidase C-terminal (2);	.	.	.	.	D	0.94479	0.8223	M	0.82823	2.61	0.09310	N	0.999999	B	0.14438	0.01	B	0.08055	0.003	D	0.88080	0.2806	9	0.62326	D	0.03	.	1.5586	0.02589	0.1585:0.1589:0.4014:0.2811	.	770	Q709F0	ACD11_HUMAN	W	666;770;295	ENSP00000347636:R666W;ENSP00000264990:R770W;ENSP00000446263:R295W	ENSP00000264990:R770W	R	-	1	2	ACAD11	133760540	0.003000	0.15002	0.038000	0.18304	0.020000	0.10135	1.442000	0.35046	0.212000	0.20703	0.655000	0.94253	CGG		0.463	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	NM_032169		3	51	0	0	0	1	0	3	51				
IQSEC3	440073	broad.mit.edu	37	12	280470	280470	+	Intron	SNP	A	A	T			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr12:280470A>T	ENST00000538872.1	+	13	3232				IQSEC3_ENST00000326261.4_Intron|RP11-598F7.6_ENST00000537295.1_lincRNA|IQSEC3_ENST00000382841.2_Missense_Mutation_p.I755F|IQSEC3_ENST00000537151.1_Intron			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3						actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		AAGAGATACAATTAAAAGTTA	0.493																																						ENST00000382841.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2263-2265)Att>Ttt		IQ motif and Sec7 domain 3							161.0	160.0	160.0					12																	280470		2203	4300	6503	SO:0001627	intron_variant	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:280470A>T	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.3114+143A>T	12.37:g.280470A>T						IQSEC3_ENST00000537151.1_Intron|IQSEC3_ENST00000538872.1_Intron|RP11-598F7.6_ENST00000537295.1_lincRNA|IQSEC3_ENST00000326261.4_Intron	p.I755F	NM_015232.1	NP_056047.1	Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	13	2675	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		0			SEC7.		A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	ENST00000538872.1	37	c.2263A>T	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	A	16.50	3.139922	0.56936	.	.	ENSG00000120645	ENST00000382841	T	0.10477	2.87	4.3	3.16	0.36331	.	.	.	.	.	T	0.12092	0.0294	.	.	.	0.80722	D	1	P	0.35908	0.527	B	0.40602	0.334	T	0.05920	-1.0856	8	0.46703	T	0.11	.	8.5324	0.33342	0.9109:0.0:0.0891:0.0	.	755	Q9UPP2-2	.	F	755	ENSP00000372292:I755F	ENSP00000372292:I755F	I	+	1	0	IQSEC3	150731	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.941000	0.56607	0.694000	0.31654	-0.411000	0.06167	ATT		0.493	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		55	84	0	0	0	1	0	55	84				
GABRA4	2557	broad.mit.edu	37	4	46967171	46967171	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr4:46967171G>A	ENST00000264318.3	-	8	1932	c.950C>T	c.(949-951)aCc>aTc	p.T317I		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	317					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	GTCCATGGCGGTAGCATAGGA	0.433																																					Ovarian(6;283 369 8234 12290 33402)	ENST00000264318.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(949-951)aCc>aTc		gamma-aminobutyric acid (GABA) A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						162.0	134.0	143.0					4																	46967171		2203	4300	6503	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46967171G>A		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.950C>T	4.37:g.46967171G>A	ENSP00000264318:p.Thr317Ile						p.T317I	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN			8	1932	-			317					Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.950C>T	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624439	0.87560	.	.	ENSG00000109158	ENST00000264318	D	0.84660	-1.88	4.81	4.81	0.61882	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.057162	0.64402	D	0.000002	D	0.92502	0.7619	M	0.81682	2.555	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.93511	0.6853	10	0.87932	D	0	.	17.0404	0.86488	0.0:0.0:1.0:0.0	.	317	P48169	GBRA4_HUMAN	I	317	ENSP00000264318:T317I	ENSP00000264318:T317I	T	-	2	0	GABRA4	46661928	1.000000	0.71417	0.187000	0.23214	0.879000	0.50718	9.657000	0.98554	2.481000	0.83766	0.591000	0.81541	ACC		0.433	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			4	145	0	0	0	1	0	4	145				
ABCA1	19	broad.mit.edu	37	9	107645364	107645364	+	Missense_Mutation	SNP	C	C	T	rs138438101		TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr9:107645364C>T	ENST00000374736.3	-	5	771	c.377G>A	c.(376-378)cGc>cAc	p.R126H	ABCA1_ENST00000374733.1_Missense_Mutation_p.R66H|ABCA1_ENST00000423487.2_Missense_Mutation_p.R126H	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	126					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.R126H(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CAGAACTTTGCGCATGTCCTT	0.453																																						ENST00000374736.3																			1	Substitution - Missense(1)	p.R126H(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(376-378)cGc>cAc		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	C	HIS/ARG	0,4406		0,0,2203	167.0	157.0	160.0		377	1.9	0.6	9	dbSNP_134	160	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABCA1	NM_005502.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	126/2262	107645364	1,13005	2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107645364C>T	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.377G>A	9.37:g.107645364C>T	ENSP00000363868:p.Arg126His					ABCA1_ENST00000374733.1_Missense_Mutation_p.R66H|ABCA1_ENST00000423487.2_Missense_Mutation_p.R126H	p.R126H	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	5	771	-			126					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.377G>A	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	8.006	0.756436	0.15846	0.0	1.16E-4	ENSG00000165029	ENST00000374736;ENST00000423487;ENST00000374733	D;D;D	0.95918	-3.85;-3.85;-3.85	5.49	1.88	0.25563	.	0.567931	0.21605	N	0.071891	D	0.86690	0.5993	N	0.08118	0	0.26805	N	0.969127	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.75010	-0.3468	10	0.24483	T	0.36	.	8.7159	0.34411	0.0:0.2302:0.0:0.7698	.	66;126	B1AMI1;O95477	.;ABCA1_HUMAN	H	126;126;66	ENSP00000363868:R126H;ENSP00000416623:R126H;ENSP00000363865:R66H	ENSP00000363865:R66H	R	-	2	0	ABCA1	106685185	0.361000	0.24972	0.569000	0.28460	0.859000	0.49053	1.329000	0.33770	0.132000	0.18615	-0.302000	0.09304	CGC		0.453	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		6	64	0	0	0	1	0	6	64				
EPHX2	2053	broad.mit.edu	37	8	27401706	27401706	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr8:27401706C>A	ENST00000521400.1	+	18	1964	c.1534C>A	c.(1534-1536)Ccc>Acc	p.P512T	EPHX2_ENST00000517536.1_Missense_Mutation_p.P329T|EPHX2_ENST00000518379.1_Missense_Mutation_p.P480T|EPHX2_ENST00000521780.1_Missense_Mutation_p.P446T|EPHX2_ENST00000380476.3_Missense_Mutation_p.P459T	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	512	Epoxide hydrolase.				arachidonic acid metabolic process (GO:0019369)|cellular calcium ion homeostasis (GO:0006874)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|inflammatory response (GO:0006954)|phospholipid dephosphorylation (GO:0046839)|positive regulation of gene expression (GO:0010628)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of cholesterol metabolic process (GO:0090181)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|stilbene catabolic process (GO:0046272)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity (GO:0033885)|epoxide hydrolase activity (GO:0004301)|lipid phosphatase activity (GO:0042577)|magnesium ion binding (GO:0000287)|phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxic substance binding (GO:0015643)			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)		CTTTCAGATTCCCCACCTGAA	0.572																																						ENST00000521400.1																			0				cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27						c.(1534-1536)Ccc>Acc		epoxide hydrolase 2, cytoplasmic	Tamoxifen(DB00675)						140.0	132.0	135.0					8																	27401706		2203	4300	6503	SO:0001583	missense	2053				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity	g.chr8:27401706C>A	L05779	CCDS6060.1, CCDS59097.1, CCDS59098.1	8p21	2010-04-23			ENSG00000120915	ENSG00000120915	3.3.2.10		3402	protein-coding gene	gene with protein product		132811					Standard	NM_001979		Approved		uc003xfu.4	P34913	OTTHUMG00000102115	ENST00000521400.1:c.1534C>A	8.37:g.27401706C>A	ENSP00000430269:p.Pro512Thr					EPHX2_ENST00000517536.1_Missense_Mutation_p.P329T|EPHX2_ENST00000518379.1_Missense_Mutation_p.P480T|EPHX2_ENST00000380476.3_Missense_Mutation_p.P459T|EPHX2_ENST00000521780.1_Missense_Mutation_p.P446T	p.P512T	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	18	1964	+		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)	512			Epoxide hydrolase.		B2Z3B1|B3KTU8|B3KUA0|G3V134|J3KPH7|Q16764|Q9HBJ1|Q9HBJ2	Missense_Mutation	SNP	ENST00000521400.1	37	c.1534C>A	CCDS6060.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.221642	0.58560	.	.	ENSG00000120915	ENST00000521400;ENST00000517536;ENST00000521780;ENST00000380476;ENST00000415449;ENST00000518379	T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36	4.05	4.05	0.47172	Alpha/beta hydrolase fold-1 (1);	0.108905	0.64402	D	0.000005	T	0.80660	0.4665	M	0.80616	2.505	0.58432	D	0.999996	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.983	T	0.82133	-0.0608	10	0.59425	D	0.04	0.0162	12.0213	0.53344	0.0:1.0:0.0:0.0	.	480;512	E5RFU2;P34913	.;HYES_HUMAN	T	512;329;446;459;459;480	ENSP00000430269:P512T;ENSP00000428875:P329T;ENSP00000430302:P446T;ENSP00000369843:P459T;ENSP00000427956:P480T	ENSP00000369843:P459T	P	+	1	0	EPHX2	27457623	0.995000	0.38212	1.000000	0.80357	0.865000	0.49528	4.763000	0.62257	2.549000	0.85964	0.491000	0.48974	CCC		0.572	EPHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219954.4			50	132	1	0	1.77791e-30	1	1.77791e-30	50	132				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	66	0	0	0	1	0	3	66				
LILRA2	11027	broad.mit.edu	37	19	55086389	55086389	+	Missense_Mutation	SNP	G	G	A	rs559006483		TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr19:55086389G>A	ENST00000251377.3	+	5	677	c.544G>A	c.(544-546)Gtg>Atg	p.V182M	LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.V182M|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.V170M|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.V182M			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	182	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.V182M(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CATCTTCTCCGTGGGCCCCGT	0.562													g|||	1	0.000199681	0.0	0.0	5008	,	,		19311	0.001		0.0	False		,,,				2504	0.0					ENST00000251377.3																			1	Substitution - Missense(1)	p.V182M(1)	prostate(1)	breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(544-546)Gtg>Atg		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							152.0	145.0	147.0					19																	55086389		2203	4300	6503	SO:0001583	missense	0							g.chr19:55086389G>A	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.544G>A	19.37:g.55086389G>A	ENSP00000251377:p.Val182Met					LILRA2_ENST00000391737.1_Missense_Mutation_p.V170M|LILRA2_ENST00000391738.3_Missense_Mutation_p.V182M|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.V182M	p.V182M						GBM - Glioblastoma multiforme(193;0.0963)	5	677	+								O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.544G>A	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225497	0.39300	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.00792	5.69;5.69;5.69;5.69;5.69	2.93	-2.33	0.06724	Immunoglobulin-like fold (1);	0.499376	0.16837	N	0.197508	T	0.01489	0.0048	L	0.52905	1.665	0.09310	N	0.999999	D;D;D;D	0.89917	0.979;0.998;1.0;0.999	B;P;P;P	0.59643	0.314;0.846;0.846;0.861	T	0.47598	-0.9105	9	.	.	.	.	2.4237	0.04455	0.2676:0.0:0.3204:0.412	.	182;170;182;182	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	M	182;182;182;182;170	ENSP00000388131:V182M;ENSP00000251377:V182M;ENSP00000375618:V182M;ENSP00000251376:V182M;ENSP00000375617:V170M	.	V	+	1	0	LILRA2	59778201	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-0.035000	0.12205	-0.212000	0.10109	-0.442000	0.05670	GTG		0.562	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			60	39	0	0	0	1	0	60	39				
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	755						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E3455K(5)		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)		atcaaagaaggaaagaagaag	0.423																																						ENST00000342960.5																			5	Substitution - Missense(5)	p.E3455K(5)	skin(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)	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.(10363-10365)Gaa>Aaa		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145367767G>A	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.10363G>A	1.37:g.145367767G>A	ENSP00000345684:p.Glu3455Lys					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.E3455K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10398	+	all_hematologic(923;0.032)		3455					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.10363G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.929795	0.00488	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00784	0.0026	L	0.51422	1.61	0.09310	N	1	.	.	.	.	.	.	T	0.46162	-0.9211	4	0.02654	T	1	.	.	.	.	.	.	.	.	K	575;3455	ENSP00000345684:E3455K	ENSP00000345684:E3455K	E	+	1	0	NBPF10	144079124	0.039000	0.19947	.	.	.	.	0.000000	0.12993	.	.	.	.	GAA		0.423	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	38	0	0	0	1	0	4	38				
SEH1L	81929	broad.mit.edu	37	18	12955479	12955479	+	Silent	SNP	A	A	G	rs140218685	byFrequency	TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr18:12955479A>G	ENST00000262124.11	+	3	307	c.180A>G	c.(178-180)gtA>gtG	p.V60V	SEH1L_ENST00000399892.2_Silent_p.V60V	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	60					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						GTGGATCTGTATGGCGTGTGA	0.398																																						ENST00000262124.11																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						c.(178-180)gtA>gtG		SEH1-like (S. cerevisiae)		A	,	4,4402	8.1+/-20.4	0,4,2199	166.0	148.0	154.0		180,180	-1.1	1.0	18	dbSNP_134	154	29,8571	21.0+/-64.5	0,29,4271	no	coding-synonymous,coding-synonymous	SEH1L	NM_001013437.1,NM_031216.3	,	0,33,6470	GG,GA,AA		0.3372,0.0908,0.2537	,	60/422,60/361	12955479	33,12973	2203	4300	6503	SO:0001819	synonymous_variant	81929				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex		g.chr18:12955479A>G	BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"""WD repeat domain containing"""	30379	protein-coding gene	gene with protein product	"""sec13 like protein"", ""nucleoporin Seh1"""	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.180A>G	18.37:g.12955479A>G						SEH1L_ENST00000399892.2_Silent_p.V60V	p.V60V	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN			3	307	+			60					A8K5B1|Q8NFU6|Q96MH3|Q9C069	Silent	SNP	ENST00000262124.11	37	c.180A>G	CCDS45832.1																																																																																				0.398	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458254.1	NM_031216		4	83	0	0	0	1	0	4	83				
OR4A5	81318	broad.mit.edu	37	11	51411931	51411931	+	Silent	SNP	C	C	T	rs140587389	byFrequency	TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr11:51411931C>T	ENST00000319760.6	-	1	517	c.465G>A	c.(463-465)gcG>gcA	p.A155A		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A155A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CAATTTGAAACGCAGAATGTA	0.453													.|||	3	0.000599042	0.0008	0.0	5008	,	,		21566	0.002		0.0	False		,,,				2504	0.0					ENST00000319760.6																			1	Substitution - coding silent(1)	p.A155A(1)	NS(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49						c.(463-465)gcG>gcA		olfactory receptor, family 4, subfamily A, member 5		C		3,4399		0,3,2198	86.0	78.0	81.0		465	0.9	0.0	11	dbSNP_134	81	1,8591		0,1,4295	no	coding-synonymous	OR4A5	NM_001005272.3		0,4,6493	TT,TC,CC		0.0116,0.0682,0.0308		155/316	51411931	4,12990	2201	4296	6497	SO:0001819	synonymous_variant	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51411931C>T	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.465G>A	11.37:g.51411931C>T							p.A155A	NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN			1	517	-		all_lung(304;0.236)	155					Q6IF84	Silent	SNP	ENST00000319760.6	37	c.465G>A	CCDS31497.1																																																																																				0.453	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		21	32	0	0	0	1	0	21	32				
NCBP2L	392517	broad.mit.edu	37	X	107037824	107037824	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chrX:107037824G>A	ENST00000509000.2	+	2	572	c.374G>A	c.(373-375)cGc>cAc	p.R125H				A6PVI3	NCB2L_HUMAN	nuclear cap binding protein subunit 2-like	125					mRNA cis splicing, via spliceosome (GO:0045292)	nuclear cap binding complex (GO:0005846)	nucleotide binding (GO:0000166)|RNA cap binding (GO:0000339)			large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	5						CAGTATGGTCGCGGTAAATCT	0.463																																						ENST00000372379.1																			0				large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	5						c.(373-375)cGc>cAc		nuclear cap binding protein subunit 2-like							124.0	109.0	114.0					X																	107037824		876	1991	2867	SO:0001583	missense	392517							g.chrX:107037824G>A			Xq22.3	2013-02-12			ENSG00000170935	ENSG00000170935		"""RNA binding motif (RRM) containing"""	31795	protein-coding gene	gene with protein product							Standard	NG_011409		Approved			A6PVI3	OTTHUMG00000022169	ENST00000509000.2:c.374G>A	X.37:g.107037824G>A	ENSP00000476955:p.Arg125His						p.R125H							1	374	+									Missense_Mutation	SNP	ENST00000509000.2	37	c.374G>A		.	.	.	.	.	.	.	.	.	.	G	11.90	1.775882	0.31411	.	.	ENSG00000170935	ENST00000372379	T	0.75938	-0.98	4.77	-9.54	0.00572	.	0.662303	0.13868	N	0.357207	T	0.77150	0.4088	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.80754	-0.1241	7	0.59425	D	0.04	-0.0526	19.9726	0.97289	0.8028:0.0:0.1972:0.0	.	.	.	.	H	125	ENSP00000361454:R125H	ENSP00000361454:R125H	R	+	2	0	NCBP2L	106924480	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.176000	0.09811	-3.941000	0.00089	-2.220000	0.00296	CGC		0.463	NCBP2L-001	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000057850.2	XM_373362		3	57	0	0	0	1	0	3	57				
CDK12	51755	broad.mit.edu	37	17	37676268	37676268	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr17:37676268G>A	ENST00000447079.4	+	11	3056	c.3023G>A	c.(3022-3024)cGg>cAg	p.R1008Q	CDK12_ENST00000430627.2_Missense_Mutation_p.R1008Q	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1008	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CCTAGTAAGCGGTGCACAGCT	0.473			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"""Mis, N, F"""	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(3022-3024)cGg>cAg		cyclin-dependent kinase 12							215.0	180.0	192.0					17																	37676268		2203	4300	6503	SO:0001583	missense	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37676268G>A	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.3023G>A	17.37:g.37676268G>A	ENSP00000398880:p.Arg1008Gln	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Missense_Mutation_p.R1008Q	p.R1008Q	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			11	3056	+			1008			Protein kinase.		A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	c.3023G>A	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	G	32	5.115609	0.94339	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.74632	-0.86;-0.86	5.56	5.56	0.83823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.39210	N	0.001440	D	0.92805	0.7712	H	0.99357	4.53	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	D	0.95608	0.8669	10	0.87932	D	0	-5.6033	19.5353	0.95251	0.0:0.0:1.0:0.0	.	1007;1008;1008	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	Q	1008	ENSP00000407720:R1008Q;ENSP00000398880:R1008Q	ENSP00000407720:R1008Q	R	+	2	0	CDK12	34929794	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	9.824000	0.99380	2.607000	0.88179	0.655000	0.94253	CGG		0.473	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		59	160	0	0	0	1	0	59	160				
TYW1B	441250	broad.mit.edu	37	7	72209576	72209576	+	RNA	SNP	C	C	G			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr7:72209576C>G	ENST00000435769.2	-	0	1089				TYW1B_ENST00000438904.2_RNA|TYW1B_ENST00000343721.5_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										CTCGGAGCATCGACTATGACA	0.413																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)							233.0	179.0	195.0					7																	72209576		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72209576C>G	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72209576C>G										Q6NUM6	TYW1B_HUMAN			0	579	-								A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																						0.413	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		3	91	0	0	0	1	0	3	91				
ZBTB40	9923	broad.mit.edu	37	1	22838561	22838563	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr1:22838561_22838563delAAG	ENST00000375647.4	+	11	2602_2604	c.2395_2397delAAG	c.(2395-2397)aagdel	p.K803del	ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del|ZBTB40_ENST00000404138.1_In_Frame_Del_p.K803del	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	803					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CGATGCCCCCAAGAAGAAGAAGA	0.517																																						ENST00000404138.1																			0				endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(2395-2397)del		zinc finger and BTB domain containing 40																																				SO:0001651	inframe_deletion	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22838561_22838563delAAG	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.2395_2397delAAG	1.37:g.22838570_22838572delAAG	ENSP00000364798:p.Lys803del					ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del|ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del	p.K803del	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	12	2906_2908	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	803					O75066|Q5TFU5|Q8N1R1	In_Frame_Del	DEL	ENST00000375647.4	37	c.2395_2397delAAG	CCDS224.1																																																																																				0.517	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		9	45						9	45	---	---	---	---
ZNF148	7707	broad.mit.edu	37	3	124952387	124952387	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr3:124952387delT	ENST00000360647.4	-	9	1668	c.1183delA	c.(1183-1185)attfs	p.I395fs	ZNF148_ENST00000485866.1_Frame_Shift_Del_p.I395fs|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000484491.1_Frame_Shift_Del_p.I395fs|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000492394.1_Frame_Shift_Del_p.I395fs|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000468369.1_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	395					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TTACTATTAATTTTTTTGAGA	0.383																																						ENST00000360647.4																			0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						c.(1183-1185)ttfs		zinc finger protein 148							74.0	78.0	77.0					3																	124952387		2203	4300	6503	SO:0001589	frameshift_variant	7707				cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chr3:124952387delT	U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"""Zinc fingers, C2H2-type"""	12933	protein-coding gene	gene with protein product		601897	"""zinc finger protein 148 (pHZ-52)"""			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.1183delA	3.37:g.124952387delT	ENSP00000353863:p.Ile395fs					ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000484491.1_Frame_Shift_Del_p.I395fs|ZNF148_ENST00000485866.1_Frame_Shift_Del_p.I395fs|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000492394.1_Frame_Shift_Del_p.I395fs	p.I395fs	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN			9	1668	-			395					D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Frame_Shift_Del	DEL	ENST00000360647.4	37	c.1183delA	CCDS3031.1																																																																																				0.383	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	NM_021964		46	22						46	22	---	---	---	---
RRP36	88745	broad.mit.edu	37	6	42989434	42989451	+	In_Frame_Del	DEL	CGGGGCCCGACGTCCCCG	CGGGGCCCGACGTCCCCG	-	rs564567932|rs202053592	byFrequency	TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr6:42989434_42989451delCGGGGCCCGACGTCCCCG	ENST00000244496.5	+	1	52_69	c.42_59delCGGGGCCCGACGTCCCCG	c.(40-60)gccggggcccgacgtccccgc>gcc	p.GARRPR15del		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	15					ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						gggccggggccggggcccgacgtccccgcggggcccgg	0.784														43	0.00858626	0.0	0.0447	5008	,	,		9842	0.0089		0.002	False		,,,				2504	0.001					ENST00000244496.5																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						c.(40-60)gcc>gc		ribosomal RNA processing 36 homolog (S. cerevisiae)				3,1373		1,1,686						3.5	0.0		dbSNP_129	3	28,2930		7,14,1458	no	coding	RRP36	NM_033112.2		8,15,2144	A1A1,A1R,RR		0.9466,0.218,0.7153				31,4303				SO:0001651	inframe_deletion	88745				ribosomal small subunit biogenesis|rRNA processing	nucleolus		g.chr6:42989434_42989451delCGGGGCCCGACGTCCCCG	BC011933	CCDS34453.1	6p21.1	2010-07-06	2010-07-06	2010-07-06	ENSG00000124541	ENSG00000124541			21374	protein-coding gene	gene with protein product		613475	"""chromosome 6 open reading frame 153"""	C6orf153		20038530	Standard	NM_033112		Approved	dJ20C7.4	uc003otp.1	Q96EU6	OTTHUMG00000014715	ENST00000244496.5:c.42_59delCGGGGCCCGACGTCCCCG	6.37:g.42989434_42989451delCGGGGCCCGACGTCCCCG	ENSP00000244496:p.Gly15_Arg20del						p.AGARRPR14del	NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN			1	52_69	+			14					Q9BRF6|Q9P0C8	In_Frame_Del	DEL	ENST00000244496.5	37	c.42_59delCGGGGCCCGACGTCCCCG	CCDS34453.1																																																																																				0.784	RRP36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040572.1	NM_033112		3	5						3	5	---	---	---	---
ABCB4	5244	broad.mit.edu	37	7	87074281	87074282	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr7:87074281_87074282insA	ENST00000265723.4	-	10	1126_1127	c.1015_1016insT	c.(1015-1017)tcafs	p.S339fs	ABCB4_ENST00000545634.1_Frame_Shift_Ins_p.S339fs|ABCB4_ENST00000358400.3_Frame_Shift_Ins_p.S339fs|ABCB4_ENST00000359206.3_Frame_Shift_Ins_p.S339fs|ABCB4_ENST00000453593.1_Frame_Shift_Ins_p.S339fs	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	339	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.S339fs*3(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	AATTAGGATTGAAAAAAAAACC	0.347																																						ENST00000265723.4																			1	Deletion - Frameshift(1)	p.S339fs*3(1)	lung(1)	breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	GRCh37	CD034702|CI034710	ABCB4	D|I		c.(1015-1017)aatfs		ATP-binding cassette, sub-family B (MDR/TAP), member 4																																				SO:0001589	frameshift_variant	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87074281_87074282insA	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1016dupT	7.37:g.87074290_87074290dupA	ENSP00000265723:p.Ser339fs					ABCB4_ENST00000358400.3_Frame_Shift_Ins_p.N339fs|ABCB4_ENST00000545634.1_Frame_Shift_Ins_p.N339fs|ABCB4_ENST00000453593.1_Frame_Shift_Ins_p.N339fs|ABCB4_ENST00000359206.3_Frame_Shift_Ins_p.N339fs	p.N339fs	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN			10	1126_1127	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		339			ABC transmembrane type-1 1.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Frame_Shift_Ins	INS	ENST00000265723.4	37	c.1015_1016insT	CCDS5606.1																																																																																				0.347	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		7	42						7	42	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57605740	57605742	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr12:57605740_57605742delTGC	ENST00000243077.3	+	87	13755_13757	c.13289_13291delTGC	c.(13288-13293)ttgctg>ttg	p.4430_4431LL>L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4430					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTCTGCTGTTGCTGCTGCTGCT	0.557																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(13288-13293)ttg>t		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)																																			SO:0001651	inframe_deletion	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57605740_57605742delTGC	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.13289_13291delTGC	12.37:g.57605749_57605751delTGC	ENSP00000243077:p.Leu4434del						p.LL4432del	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	87	13755_13757	+			4432					Q2PP12|Q86SW0|Q8IVG8	In_Frame_Del	DEL	ENST00000243077.3	37	c.13289_13291delTGC	CCDS8932.1																																																																																				0.557	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		8	304						8	304	---	---	---	---
ACE	1636	broad.mit.edu	37	17	61560474	61560474	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr17:61560474delG	ENST00000290866.4	+	9	1451	c.1427delG	c.(1426-1428)tggfs	p.W476fs	ACE_ENST00000584529.1_Intron|ACE_ENST00000421982.2_5'Flank|ACE_ENST00000290863.6_5'Flank|ACE_ENST00000428043.1_Frame_Shift_Del_p.W476fs|ACE_ENST00000538928.1_Intron|ACE_ENST00000490216.2_5'Flank|ACE_ENST00000577647.1_5'Flank|ACE_ENST00000413513.3_5'Flank	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	476	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CAGTGGCGCTGGGGGGTCTTT	0.532																																						ENST00000290866.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(1426-1428)tgfs		angiotensin I converting enzyme	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						136.0	146.0	143.0					17																	61560474		2203	4300	6503	SO:0001589	frameshift_variant	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61560474delG	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.1427delG	17.37:g.61560474delG	ENSP00000290866:p.Trp476fs					ACE_ENST00000538928.1_Intron|ACE_ENST00000428043.1_Frame_Shift_Del_p.W476fs|ACE_ENST00000584529.1_Intron	p.W476fs	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN			9	1451	+			476			Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Frame_Shift_Del	DEL	ENST00000290866.4	37	c.1427delG	CCDS11637.1																																																																																				0.532	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			8	377						8	377	---	---	---	---
BPTF	2186	broad.mit.edu	37	17	65940454	65940456	+	In_Frame_Del	DEL	CAC	CAC	-	rs143937013		TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr17:65940454_65940456delCAC	ENST00000321892.4	+	22	7105_7107	c.7044_7046delCAC	c.(7042-7047)agcacc>agc	p.T2353del	BPTF_ENST00000424123.3_In_Frame_Del_p.T2214del|BPTF_ENST00000335221.5_In_Frame_Del_p.T2353del|BPTF_ENST00000306378.6_In_Frame_Del_p.T2227del			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2353	Thr-rich.				anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CCACAGCCAGCACCACCACCACC	0.542																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(7042-7047)agc>ag		bromodomain PHD finger transcription factor																																				SO:0001651	inframe_deletion	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65940454_65940456delCAC	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.7044_7046delCAC	17.37:g.65940463_65940465delCAC	ENSP00000315454:p.Thr2353del					BPTF_ENST00000424123.3_In_Frame_Del_p.ST2209del|BPTF_ENST00000306378.6_In_Frame_Del_p.ST2222del|BPTF_ENST00000335221.5_In_Frame_Del_p.ST2348del	p.ST2348del			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		22	7105_7107	+	all_cancers(12;6e-11)		2348			Thr-rich.		Q6NX67|Q7Z7D6|Q9UIG2	In_Frame_Del	DEL	ENST00000321892.4	37	c.7044_7046delCAC																																																																																					0.542	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		8	191						8	191	---	---	---	---
CLEC17A	388512	broad.mit.edu	37	19	14694175	14694176	+	In_Frame_Ins	INS	-	-	GGA	rs138602183|rs34295949|rs548360441	byFrequency	TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr19:14694175_14694176insGGA	ENST00000417570.1	+	2	88_89	c.50_51insGGA	c.(49-54)atggag>atGGAggag	p.22_23insE	RN7SL337P_ENST00000462468.2_RNA|CLEC17A_ENST00000547437.1_In_Frame_Ins_p.22_23insE|CLEC17A_ENST00000397439.2_In_Frame_Ins_p.22_23insE	NM_001204118.1	NP_001191047.1	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	22	Poly-Glu.					cell surface (GO:0009986)|integral component of membrane (GO:0016021)	fucose binding (GO:0042806)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)										GAAGGGACCATGGAGGAGGAGG	0.579														414	0.0826677	0.174	0.0346	5008	,	,		19484	0.004		0.0656	False		,,,				2504	0.092					ENST00000547437.1																			0											c.(49-51)aga>aGGAga		C-type lectin domain family 17, member A																																				SO:0001652	inframe_insertion	388512					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity	g.chr19:14694175_14694176insGGA	AK127809	CCDS46002.1, CCDS46002.2, CCDS56087.1	19p13.12	2009-06-26			ENSG00000187912	ENSG00000187912		"""C-type lectin domain containing"""	34520	protein-coding gene	gene with protein product	"""prolectin"""					19419970	Standard	NM_207390		Approved	FLJ45910	uc010dzn.2	Q6ZS10		ENST00000417570.1:c.66_68dupGGA	19.37:g.14694182_14694184dupGGA	ENSP00000393719:p.Glu22_Glu22dup					CLEC17A_ENST00000417570.1_In_Frame_Ins_p.17_17R>RR|CLEC17A_ENST00000397439.2_In_Frame_Ins_p.17_17R>RR	p.17_17R>RR	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN			2	127_128	+			17					A8MX68|B2RTX0|B7ZMM4	In_Frame_Ins	INS	ENST00000417570.1	37	c.50_51insGGA	CCDS56087.1																																																																																				0.579	CLEC17A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403400.1	NM_207390		4	8						4	8	---	---	---	---
