#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PADI4	23569	broad.mit.edu	37	1	17690079	17690079	+	Silent	SNP	C	C	T	rs143565531		TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr1:17690079C>T	ENST00000375448.4	+	16	1847	c.1821C>T	c.(1819-1821)aaC>aaT	p.N607N		NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	607					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CCGTCATCAACGGCCGCTGCT	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		18574	0.0		0.001	False		,,,				2504	0.0					ENST00000375448.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26						c.(1819-1821)aaC>aaT		peptidyl arginine deiminase, type IV	L-Citrulline(DB00155)	C		0,4406		0,0,2203	46.0	43.0	44.0		1821	-6.2	0.4	1	dbSNP_134	44	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PADI4	NM_012387.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		607/664	17690079	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23569				chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17690079C>T	AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"""Peptidyl arginine deiminases"""	18368	protein-coding gene	gene with protein product		605347	"""peptidyl arginine deiminase, type V"""	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.1821C>T	1.37:g.17690079C>T			Somatic					p.N607N	NM_012387.2	NP_036519.2	WXS	Illumina GAIIx	Phase_I	Q9UM07	PADI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	16	1847	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	607					A8K392|B2RBW0|Q5VTZ8|Q70SX4	Silent	SNP	ENST00000375448.4	37	c.1821C>T	CCDS180.1																																																																																				0.612	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006799.1	NM_012387		16	20	16	20	---	---	---	---
HTR1D	3352	broad.mit.edu	37	1	23520453	23520453	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr1:23520453A>G	ENST00000374619.1	-	1	769	c.260T>C	c.(259-261)gTt>gCt	p.V87A	HTR1D_ENST00000314113.3_Missense_Mutation_p.V87A	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	87					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CAAGATGGAAACCAAGAGGTC	0.532																																						ENST00000374619.1																			0				NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(259-261)gTt>gCt		5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)						258.0	232.0	241.0					1																	23520453		2203	4300	6503	SO:0001583	missense	3352				G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity	g.chr1:23520453A>G	M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5289	protein-coding gene	gene with protein product		182133	"""5-hydroxytryptamine (serotonin) receptor 1D"""	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.260T>C	1.37:g.23520453A>G	ENSP00000363748:p.Val87Ala		Somatic				HTR1D_ENST00000314113.3_Missense_Mutation_p.V87A	p.V87A	NM_000864.4	NP_000855.1	WXS	Illumina GAIIx	Phase_I	P28221	5HT1D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	1	769	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)	87						Missense_Mutation	SNP	ENST00000374619.1	37	c.260T>C	CCDS231.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.391447	0.83011	.	.	ENSG00000179546	ENST00000314113;ENST00000374619	T;T	0.74526	-0.85;-0.85	5.6	5.6	0.85130	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.90745	0.7095	H	0.96833	3.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93675	0.6993	10	0.87932	D	0	.	14.967	0.71201	1.0:0.0:0.0:0.0	.	87	P28221	5HT1D_HUMAN	A	87	ENSP00000313661:V87A;ENSP00000363748:V87A	ENSP00000313661:V87A	V	-	2	0	HTR1D	23393040	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.339000	0.96797	2.140000	0.66376	0.533000	0.62120	GTT		0.532	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008924.1	NM_000864		45	145	45	145	---	---	---	---
NCK2	8440	broad.mit.edu	37	2	106497794	106497794	+	Silent	SNP	G	G	A			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr2:106497794G>A	ENST00000233154.4	+	4	679	c.237G>A	c.(235-237)aaG>aaA	p.K79K	NCK2_ENST00000393349.2_Silent_p.K79K|NCK2_ENST00000451463.2_Intron|NCK2_ENST00000522586.1_Intron	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	79					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|lamellipodium assembly (GO:0030032)|negative regulation of cell proliferation (GO:0008285)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of translation (GO:0006417)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|lung(3)|ovary(1)	5						GCCTCGGCAAGACGCGCAGGA	0.672																																						ENST00000233154.4																			0				endometrium(1)|lung(3)|ovary(1)	5						c.(235-237)aaG>aaA		NCK adaptor protein 2							22.0	24.0	24.0					2																	106497794		2195	4282	6477	SO:0001819	synonymous_variant	8440				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity	g.chr2:106497794G>A	AF043119	CCDS33266.1	2q12	2013-02-14			ENSG00000071051	ENSG00000071051		"""SH2 domain containing"""	7665	protein-coding gene	gene with protein product		604930				9737977, 16752908	Standard	NM_001004720		Approved	NCKbeta	uc002tdi.3	O43639	OTTHUMG00000153116	ENST00000233154.4:c.237G>A	2.37:g.106497794G>A			Somatic				NCK2_ENST00000522586.1_Intron|NCK2_ENST00000393349.2_Silent_p.K79K|NCK2_ENST00000451463.2_Intron	p.K79K	NM_003581.4	NP_003572.2	WXS	Illumina GAIIx	Phase_I	O43639	NCK2_HUMAN			4	679	+			79					D3DVK1|Q9BWN9|Q9UIC3	Silent	SNP	ENST00000233154.4	37	c.237G>A	CCDS33266.1																																																																																				0.672	NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329634.1	NM_003581		10	28	10	28	---	---	---	---
MFN1	55669	broad.mit.edu	37	3	179085842	179085842	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr3:179085842G>T	ENST00000471841.1	+	9	1052	c.926G>T	c.(925-927)gGa>gTa	p.G309V	MFN1_ENST00000263969.5_Missense_Mutation_p.G309V|MFN1_ENST00000280653.7_Missense_Mutation_p.G309V	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	309	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CTTGCTGAAGGATTTCATGCA	0.333																																						ENST00000471841.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31						c.(925-927)gGa>gTa		mitofusin 1							75.0	76.0	75.0					3																	179085842		2203	4299	6502	SO:0001583	missense	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179085842G>T	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.926G>T	3.37:g.179085842G>T	ENSP00000420617:p.Gly309Val		Somatic				MFN1_ENST00000280653.7_Missense_Mutation_p.G309V|MFN1_ENST00000263969.5_Missense_Mutation_p.G309V	p.G309V	NM_033540.2	NP_284941	WXS	Illumina GAIIx	Phase_I	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		9	1052	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		309					B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	ENST00000471841.1	37	c.926G>T	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.786794	0.70337	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000263969;ENST00000474903	D;D;D;D	0.95412	-3.57;-3.57;-3.57;-3.7	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.98055	0.9359	M	0.86420	2.815	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.97110	1.0;0.952;0.93	D	0.98623	1.0668	10	0.72032	D	0.01	-16.1129	19.388	0.94565	0.0:0.0:1.0:0.0	.	309;337;309	Q8IWA4-3;Q4AEJ4;Q8IWA4	.;.;MFN1_HUMAN	V	309;309;309;309;172	ENSP00000420617:G309V;ENSP00000280653:G309V;ENSP00000263969:G309V;ENSP00000419926:G172V	ENSP00000263969:G309V	G	+	2	0	MFN1	180568536	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.267000	0.95665	2.651000	0.90000	0.650000	0.86243	GGA		0.333	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		3	51	3	51	---	---	---	---
SHROOM3	57619	broad.mit.edu	37	4	77677870	77677870	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr4:77677870C>T	ENST00000296043.6	+	8	5931	c.4978C>T	c.(4978-4980)Cag>Tag	p.Q1660*	RP11-359D14.3_ENST00000449007.1_RNA|RP11-359D14.2_ENST00000452412.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1660					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TCCTGATCCTCAGAAGAGTTC	0.488																																						ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(4978-4980)Cag>Tag		shroom family member 3							69.0	73.0	71.0					4																	77677870		2203	4300	6503	SO:0001587	stop_gained	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77677870C>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.4978C>T	4.37:g.77677870C>T	ENSP00000296043:p.Gln1660*		Somatic					p.Q1660*	NM_020859.3	NP_065910.3	WXS	Illumina GAIIx	Phase_I	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		8	5931	+			1660					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Nonsense_Mutation	SNP	ENST00000296043.6	37	c.4978C>T	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	C	50	16.779132	0.99872	.	.	ENSG00000138771	ENST00000296043;ENST00000264907	.	.	.	5.27	4.38	0.52667	.	0.670270	0.14028	N	0.346377	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-17.2393	9.3805	0.38311	0.1972:0.5648:0.238:0.0	.	.	.	.	X	1660;137	.	ENSP00000264907:Q137X	Q	+	1	0	SHROOM3	77896894	0.942000	0.31987	0.991000	0.47740	0.981000	0.71138	1.756000	0.38390	2.623000	0.88846	0.585000	0.79938	CAG		0.488	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		5	64	5	64	---	---	---	---
ETNPPL	64850	broad.mit.edu	37	4	109675832	109675832	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr4:109675832T>A	ENST00000296486.3	-	5	599	c.445A>T	c.(445-447)Att>Ttt	p.I149F	ETNPPL_ENST00000512646.1_Missense_Mutation_p.I91F|ETNPPL_ENST00000510706.1_Missense_Mutation_p.I109F|ETNPPL_ENST00000411864.2_Missense_Mutation_p.I143F	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	149						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)										TATGGGCTAATCTCAATTAAG	0.313																																						ENST00000296486.3																			0											c.(445-447)Att>Ttt		ethanolamine-phosphate phospho-lyase							113.0	114.0	114.0					4																	109675832		2203	4300	6503	SO:0001583	missense	64850							g.chr4:109675832T>A	AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"""alanine-glyoxylate aminotransferase 2-like 1"""	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.445A>T	4.37:g.109675832T>A	ENSP00000296486:p.Ile149Phe		Somatic				ETNPPL_ENST00000510706.1_Missense_Mutation_p.I109F|ETNPPL_ENST00000512646.1_Missense_Mutation_p.I91F|ETNPPL_ENST00000411864.2_Missense_Mutation_p.I143F	p.I149F	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	WXS	Illumina GAIIx	Phase_I					5	599	-								B7Z1Y0|E9PBY0|Q9H174	Missense_Mutation	SNP	ENST00000296486.3	37	c.445A>T	CCDS3682.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.319602	0.81469	.	.	ENSG00000164089	ENST00000296486;ENST00000411864;ENST00000512646;ENST00000510706	D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1	5.84	5.84	0.93424	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.93703	0.7988	M	0.82433	2.59	0.80722	D	1	D;D;D	0.89917	0.971;0.997;1.0	D;D;D	0.79784	0.916;0.986;0.993	D	0.93943	0.7225	9	.	.	.	-22.4404	16.215	0.82206	0.0:0.0:0.0:1.0	.	91;143;149	E9PBY0;Q8TBG4-2;Q8TBG4	.;.;AT2L1_HUMAN	F	149;143;91;109	ENSP00000296486:I149F;ENSP00000392269:I143F;ENSP00000427065:I91F;ENSP00000423240:I109F	.	I	-	1	0	AGXT2L1	109895281	1.000000	0.71417	1.000000	0.80357	0.551000	0.35334	6.249000	0.72427	2.239000	0.73571	0.533000	0.62120	ATT		0.313	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363508.1	NM_031279		19	40	19	40	---	---	---	---
HLA-G	3135	broad.mit.edu	37	6	29797242	29797242	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr6:29797242G>A	ENST00000360323.6	+	4	691	c.667G>A	c.(667-669)Gcc>Acc	p.A223T	HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000376828.2_Missense_Mutation_p.A228T|HLA-G_ENST00000376818.3_Missense_Mutation_p.A131T|HLA-G_ENST00000428701.1_Missense_Mutation_p.A223T			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	223	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						TGACTATGAGGCCACCCTGAG	0.582																																						ENST00000428701.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						c.(667-669)Gcc>Acc		major histocompatibility complex, class I, G							97.0	102.0	100.0					6																	29797242		2203	4300	6503	SO:0001583	missense	3135				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29797242G>A		CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4964	protein-coding gene	gene with protein product	"""b2 microglobulin"""	142871	"""HLA-G histocompatibility antigen, class I, G"""				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.667G>A	6.37:g.29797242G>A	ENSP00000353472:p.Ala223Thr		Somatic				HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000376828.2_Missense_Mutation_p.A228T|HLA-G_ENST00000360323.6_Missense_Mutation_p.A223T|HLA-G_ENST00000376818.3_Missense_Mutation_p.A131T	p.A223T	NM_002127.5	NP_002118.1	WXS	Illumina GAIIx	Phase_I	P17693	HLAG_HUMAN			5	845	+			223			Alpha-3.|Ig-like C1-type.			Missense_Mutation	SNP	ENST00000360323.6	37	c.667G>A	CCDS4668.1	.	.	.	.	.	.	.	.	.	.	.	9.739	1.164298	0.21538	.	.	ENSG00000204632	ENST00000376828;ENST00000428701;ENST00000360323;ENST00000376818	T;T;T;T	0.03212	4.01;4.01;4.01;4.01	1.72	0.793	0.18632	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.820778	0.09668	N	0.771562	T	0.01558	0.0050	N	0.21282	0.65	0.09310	N	1	B;B;B	0.31879	0.344;0.064;0.086	P;B;B	0.44860	0.462;0.008;0.125	T	0.50841	-0.8780	10	0.87932	D	0	.	4.0961	0.09991	0.2346:0.0:0.7654:0.0	.	228;131;223	Q5RJ85;Q31611;P17693	.;.;HLAG_HUMAN	T	228;223;223;131	ENSP00000366024:A228T;ENSP00000412927:A223T;ENSP00000353472:A223T;ENSP00000366014:A131T	ENSP00000353472:A223T	A	+	1	0	HLA-G	29905221	0.007000	0.16637	0.032000	0.17829	0.578000	0.36192	0.003000	0.13083	0.073000	0.16731	0.298000	0.19748	GCC		0.582	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076286.2	NM_002127		9	192	9	192	---	---	---	---
CDK19	23097	broad.mit.edu	37	6	110944514	110944514	+	Silent	SNP	A	A	T			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr6:110944514A>T	ENST00000368911.3	-	9	1091	c.912T>A	c.(910-912)ccT>ccA	p.P304P	CDK19_ENST00000323817.3_Silent_p.P244P|CDK19_ENST00000413605.2_Silent_p.P180P	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	304	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						CTTTGCTGTCAGGCTTGACCT	0.458																																						ENST00000368911.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						c.(910-912)ccT>ccA		cyclin-dependent kinase 19							234.0	186.0	202.0					6																	110944514		2203	4300	6503	SO:0001819	synonymous_variant	23097						ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr6:110944514A>T	AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"""Cyclin-dependent kinases"""	19338	protein-coding gene	gene with protein product		614720	"""cyclin-dependent kinase (CDC2-like) 11"", ""cell division cycle 2-like 6 (CDK8-like)"""	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.912T>A	6.37:g.110944514A>T			Somatic				CDK19_ENST00000323817.3_Silent_p.P244P|CDK19_ENST00000413605.2_Silent_p.P180P	p.P304P	NM_015076.3	NP_055891.1	WXS	Illumina GAIIx	Phase_I	Q9BWU1	CDK19_HUMAN			9	1091	-			304			Protein kinase.		Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	Silent	SNP	ENST00000368911.3	37	c.912T>A	CCDS5085.1																																																																																				0.458	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041804.1	NM_015076		3	123	3	123	---	---	---	---
GTF2IRD2P1	401375	broad.mit.edu	37	7	72683335	72683335	+	RNA	SNP	C	C	T			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr7:72683335C>T	ENST00000425256.1	-	0	188									GTF2I repeat domain containing 2 pseudogene 1																		TGCACTACCACAGCCGACTGG	0.498																																						ENST00000425256.1																			0																																																			401375							g.chr7:72683335C>T	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72683335C>T			Somatic								WXS	Illumina GAIIx	Phase_I					0	188	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.498	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		46	101	46	101	---	---	---	---
DHTKD1	55526	broad.mit.edu	37	10	12133636	12133636	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr10:12133636C>T	ENST00000263035.4	+	6	1174	c.1112C>T	c.(1111-1113)aCc>aTc	p.T371I	DHTKD1_ENST00000465617.1_Intron	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	371					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CTGGGTTACACCACTCCAGCT	0.448																																						ENST00000263035.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44						c.(1111-1113)aCc>aTc		dehydrogenase E1 and transketolase domain containing 1							106.0	97.0	100.0					10																	12133636		2203	4300	6503	SO:0001583	missense	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12133636C>T	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.1112C>T	10.37:g.12133636C>T	ENSP00000263035:p.Thr371Ile		Somatic				DHTKD1_ENST00000465617.1_Intron	p.T371I	NM_018706.5	NP_061176	WXS	Illumina GAIIx	Phase_I	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		6	1174	+		Renal(717;0.228)	371					Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	c.1112C>T	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.766586	0.90020	.	.	ENSG00000181192	ENST00000263035;ENST00000437298;ENST00000415935	D;D;D	0.96459	-4.02;-4.02;-4.02	5.7	5.7	0.88788	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.99058	0.9677	H	0.98542	4.26	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99026	1.0819	10	0.87932	D	0	-16.6909	19.8385	0.96670	0.0:1.0:0.0:0.0	.	371	Q96HY7	DHTK1_HUMAN	I	371;306;69	ENSP00000263035:T371I;ENSP00000388163:T306I;ENSP00000400625:T69I	ENSP00000263035:T371I	T	+	2	0	DHTKD1	12173642	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	7.764000	0.85297	2.701000	0.92244	0.655000	0.94253	ACC		0.448	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		5	91	5	91	---	---	---	---
FAM53B	9679	broad.mit.edu	37	10	126370270	126370270	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr10:126370270C>G	ENST00000337318.3	-	4	1023	c.812G>C	c.(811-813)tGt>tCt	p.C271S	FAM53B_ENST00000392754.3_Missense_Mutation_p.C271S|RP11-12J10.3_ENST00000494792.1_3'UTR|FAM53B_ENST00000280780.6_Missense_Mutation_p.C271S	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	271										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		GTTAAGGACACACGGCTGGGA	0.577																																						ENST00000337318.3																			0				cervix(1)|lung(5)|ovary(2)|pancreas(1)	9						c.(811-813)tGt>tCt		family with sequence similarity 53, member B							30.0	28.0	29.0					10																	126370270		2202	4300	6502	SO:0001583	missense	9679							g.chr10:126370270C>G	D50930	CCDS7641.1	10q26.13	2004-11-24	2004-11-24	2004-11-24	ENSG00000189319	ENSG00000189319			28968	protein-coding gene	gene with protein product			"""KIAA0140"""	KIAA0140		8590280	Standard	NM_014661		Approved	bA12J10.2	uc001lhv.1	Q14153	OTTHUMG00000019215	ENST00000337318.3:c.812G>C	10.37:g.126370270C>G	ENSP00000338532:p.Cys271Ser		Somatic				FAM53B_ENST00000392754.3_Missense_Mutation_p.C271S|FAM53B_ENST00000280780.6_Missense_Mutation_p.C271S|RP11-12J10.3_ENST00000494792.1_3'UTR	p.C271S	NM_014661.3	NP_055476.3	WXS	Illumina GAIIx	Phase_I	Q14153	FA53B_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)	4	1023	-		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)	271					D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6	Missense_Mutation	SNP	ENST00000337318.3	37	c.812G>C	CCDS7641.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743044	0.89663	.	.	ENSG00000189319	ENST00000337318;ENST00000392754;ENST00000280780	T;T;T	0.76709	-1.04;-1.04;-1.04	4.85	4.85	0.62838	.	0.048963	0.85682	D	0.000000	D	0.86847	0.6031	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.998	D	0.88177	0.2868	10	0.87932	D	0	-20.6699	18.1993	0.89833	0.0:1.0:0.0:0.0	.	271;271;271	Q14153-2;Q14153;B3KMZ2	.;FA53B_HUMAN;.	S	271	ENSP00000338532:C271S;ENSP00000376509:C271S;ENSP00000280780:C271S	ENSP00000280780:C271S	C	-	2	0	FAM53B	126360260	1.000000	0.71417	0.966000	0.40874	0.981000	0.71138	7.471000	0.80985	2.532000	0.85374	0.650000	0.86243	TGT		0.577	FAM53B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050879.1	NM_014661		3	7	3	7	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6652623	6652623	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr11:6652623G>C	ENST00000299441.3	-	8	4102	c.3691C>G	c.(3691-3693)Cct>Gct	p.P1231A	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1231	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTTCCCGGAGGCACGCGGTCT	0.552																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(3691-3693)Cct>Gct		dachsous cadherin-related 1							154.0	130.0	138.0					11																	6652623		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6652623G>C	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.3691C>G	11.37:g.6652623G>C	ENSP00000299441:p.Pro1231Ala		Somatic				RP11-732A19.6_ENST00000526633.1_RNA	p.P1231A	NM_003737.2	NP_003728.1	WXS	Illumina GAIIx	Phase_I	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	8	4102	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1231			Cadherin 12.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.3691C>G	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.847478	0.51164	.	.	ENSG00000166341	ENST00000299441	T	0.54071	0.59	5.33	3.38	0.38709	Cadherin (3);Cadherin-like (1);	0.168938	0.28453	N	0.015292	T	0.38772	0.1053	L	0.37750	1.13	0.42869	D	0.994136	B	0.14805	0.011	B	0.18561	0.022	T	0.19976	-1.0289	10	0.25106	T	0.35	.	8.8488	0.35188	0.0797:0.1486:0.7717:0.0	.	1231	Q96JQ0	PCD16_HUMAN	A	1231	ENSP00000299441:P1231A	ENSP00000299441:P1231A	P	-	1	0	DCHS1	6609199	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.180000	0.50895	1.491000	0.48482	-0.140000	0.14226	CCT		0.552	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		18	150	18	150	---	---	---	---
OR4D6	219983	broad.mit.edu	37	11	59225028	59225028	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr11:59225028A>G	ENST00000300127.2	+	1	618	c.595A>G	c.(595-597)Atg>Gtg	p.M199V		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						GGAGCTTTTCATGATCTCTAA	0.537																																						ENST00000300127.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						c.(595-597)Atg>Gtg		olfactory receptor, family 4, subfamily D, member 6							197.0	164.0	175.0					11																	59225028		2201	4295	6496	SO:0001583	missense	219983				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59225028A>G	AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"""GPCR / Class A : Olfactory receptors"""	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.595A>G	11.37:g.59225028A>G	ENSP00000300127:p.Met199Val		Somatic					p.M199V	NM_001004708.1	NP_001004708.1	WXS	Illumina GAIIx	Phase_I	Q8NGJ1	OR4D6_HUMAN			1	618	+			199					B2RNP7|Q6IFF5|Q96R74	Missense_Mutation	SNP	ENST00000300127.2	37	c.595A>G	CCDS31562.1	.	.	.	.	.	.	.	.	.	.	A	10.55	1.382930	0.25031	.	.	ENSG00000166884	ENST00000300127	T	0.00034	8.87	6.0	-8.41	0.00961	GPCR, rhodopsin-like superfamily (1);	0.605628	0.15424	N	0.263046	T	0.00073	0.0002	N	0.20685	0.6	0.19575	N	0.999961	B	0.24823	0.112	B	0.31245	0.126	T	0.46679	-0.9174	10	0.02654	T	1	-8.7994	11.0103	0.47659	0.329:0.4949:0.0:0.1761	.	199	Q8NGJ1	OR4D6_HUMAN	V	199	ENSP00000300127:M199V	ENSP00000300127:M199V	M	+	1	0	OR4D6	58981604	0.000000	0.05858	0.529000	0.27951	0.969000	0.65631	-1.384000	0.02542	-0.887000	0.03961	0.528000	0.53228	ATG		0.537	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1	NM_001004708		8	116	8	116	---	---	---	---
SLC39A5	283375	broad.mit.edu	37	12	56628745	56628745	+	Silent	SNP	T	T	A			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr12:56628745T>A	ENST00000266980.4	+	4	902	c.609T>A	c.(607-609)ccT>ccA	p.P203P	SLC39A5_ENST00000454355.2_Silent_p.P203P|ANKRD52_ENST00000548241.1_5'Flank	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	203					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTCCGGCCCCTGCACCCCCAG	0.627																																						ENST00000266980.4																			0				NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(607-609)ccT>ccA		solute carrier family 39 (zinc transporter), member 5							77.0	88.0	84.0					12																	56628745		2203	4300	6503	SO:0001819	synonymous_variant	283375				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity	g.chr12:56628745T>A		CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"""Solute carriers"""	20502	protein-coding gene	gene with protein product		608730	"""solute carrier family 39 (metal ion transporter), member 5"""				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.609T>A	12.37:g.56628745T>A			Somatic				SLC39A5_ENST00000454355.2_Silent_p.P203P	p.P203P	NM_001135195.1	NP_001128667.1	WXS	Illumina GAIIx	Phase_I	Q6ZMH5	S39A5_HUMAN			4	902	+			203					B2R808|Q8N6Y3	Silent	SNP	ENST00000266980.4	37	c.609T>A	CCDS8912.2																																																																																				0.627	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346834.1	NM_173596		46	102	46	102	---	---	---	---
HNF1A	6927	broad.mit.edu	37	12	121434123	121434123	+	Silent	SNP	C	C	T			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr12:121434123C>T	ENST00000257555.6	+	5	1240	c.1014C>T	c.(1012-1014)ggC>ggT	p.G338G	HNF1A_ENST00000543427.1_Silent_p.G221G|HNF1A_ENST00000402929.1_Silent_p.G338G|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000544413.1_Silent_p.G338G|HNF1A_ENST00000541395.1_Silent_p.G338G|HNF1A_ENST00000400024.2_Silent_p.G338G			P20823	HNF1A_HUMAN	HNF1 homeobox A	338					glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAAGCAGCGGCGGTCCCTTAG	0.622									Hepatic Adenoma, Familial Clustering of																													ENST00000257555.6																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221						c.(1012-1014)ggC>ggT		HNF1 homeobox A							150.0	112.0	125.0					12																	121434123		2203	4300	6503	SO:0001819	synonymous_variant	6927	Hepatic Adenoma, Familial Clustering of	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr12:121434123C>T	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"""Homeoboxes / HNF class"""	11621	protein-coding gene	gene with protein product		142410	"""transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"""	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.1014C>T	12.37:g.121434123C>T			Somatic				HNF1A_ENST00000541395.1_Silent_p.G338G|HNF1A_ENST00000543427.1_Silent_p.G221G|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000544413.1_Silent_p.G338G|HNF1A_ENST00000400024.2_Silent_p.G338G|HNF1A_ENST00000402929.1_Silent_p.G338G	p.G338G			WXS	Illumina GAIIx	Phase_I	P20823	HNF1A_HUMAN			5	1240	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		338					A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Silent	SNP	ENST00000257555.6	37	c.1014C>T	CCDS9209.1																																																																																				0.622	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	NM_000545		18	171	18	171	---	---	---	---
CHD8	57680	broad.mit.edu	37	14	21860705	21860705	+	Silent	SNP	T	T	A			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr14:21860705T>A	ENST00000557364.1	-	34	6995	c.6732A>T	c.(6730-6732)cgA>cgT	p.R2244R	SNORD9_ENST00000362566.1_RNA|CHD8_ENST00000399982.2_Silent_p.R2244R|CHD8_ENST00000555962.1_5'Flank|CHD8_ENST00000430710.3_Silent_p.R1965R			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2244					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CATCCATGCCTCGGCGAAGTT	0.517																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(6730-6732)cgA>cgT		chromodomain helicase DNA binding protein 8							147.0	150.0	149.0					14																	21860705		2065	4218	6283	SO:0001819	synonymous_variant	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21860705T>A	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.6732A>T	14.37:g.21860705T>A			Somatic				CHD8_ENST00000557364.1_Silent_p.R2244R|CHD8_ENST00000430710.3_Silent_p.R1965R	p.R2244R	NM_001170629.1	NP_001164100.1	WXS	Illumina GAIIx	Phase_I	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	33	6796	-	all_cancers(95;0.00121)		2244					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Silent	SNP	ENST00000557364.1	37	c.6732A>T	CCDS53885.1																																																																																				0.517	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		13	194	13	194	---	---	---	---
SRP54	6729	broad.mit.edu	37	14	35470176	35470176	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr14:35470176C>G	ENST00000556994.1	+	5	602	c.205C>G	c.(205-207)Ctt>Gtt	p.L69V	SRP54_ENST00000555535.1_3'UTR|SRP54_ENST00000555557.1_Missense_Mutation_p.L5V|SRP54_ENST00000546080.1_Missense_Mutation_p.L20V|SRP54_ENST00000216774.6_Missense_Mutation_p.L69V			P61011	SRP54_HUMAN	signal recognition particle 54kDa	69	G-domain.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition (GO:0006617)|SRP-dependent cotranslational protein targeting to membrane, translocation (GO:0006616)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|drug binding (GO:0008144)|endoplasmic reticulum signal peptide binding (GO:0030942)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)	p.L69V(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		GGCATCTGGTCTTAACAAAAG	0.353																																						ENST00000556994.1																			1	Substitution - Missense(1)	p.L69V(1)	upper_aerodigestive_tract(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(205-207)Ctt>Gtt		signal recognition particle 54kDa							92.0	84.0	87.0					14																	35470176		2203	4300	6503	SO:0001583	missense	6729				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding	g.chr14:35470176C>G	X86373	CCDS9652.1, CCDS53893.1	14q13.2	2014-06-02	2002-08-29		ENSG00000100883	ENSG00000100883			11301	protein-coding gene	gene with protein product		604857	"""signal recognition particle 54kD"""			8722571	Standard	NM_003136		Approved		uc001wso.3	P61011	OTTHUMG00000140214	ENST00000556994.1:c.205C>G	14.37:g.35470176C>G	ENSP00000451818:p.Leu69Val		Somatic				SRP54_ENST00000546080.1_Missense_Mutation_p.L20V|SRP54_ENST00000216774.6_Missense_Mutation_p.L69V|SRP54_ENST00000555557.1_Missense_Mutation_p.L5V|SRP54_ENST00000555535.1_3'UTR	p.L69V			WXS	Illumina GAIIx	Phase_I	P61011	SRP54_HUMAN	LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)	5	602	+	Breast(36;0.0545)|Hepatocellular(127;0.158)		69			G-domain.		B2R759|B4DUW6|P13624	Missense_Mutation	SNP	ENST00000556994.1	37	c.205C>G	CCDS9652.1	.	.	.	.	.	.	.	.	.	.	C	4.377	0.069451	0.08436	.	.	ENSG00000100883	ENST00000556994;ENST00000555746;ENST00000216774;ENST00000546080;ENST00000555557	.	.	.	5.64	4.76	0.60689	Signal recognition particle, SRP54 subunit, helical bundle (4);	0.124743	0.52532	D	0.000066	T	0.47173	0.1431	L	0.39566	1.225	0.80722	D	1	B;B	0.10296	0.0;0.003	B;B	0.10450	0.001;0.005	T	0.39333	-0.9619	9	0.34782	T	0.22	-10.8702	10.8727	0.46894	0.0:0.8567:0.0:0.1433	.	20;69	B4DUW6;P61011	.;SRP54_HUMAN	V	69;69;69;20;5	.	ENSP00000216774:L69V	L	+	1	0	SRP54	34539927	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.789000	0.62446	1.531000	0.49152	0.643000	0.83706	CTT		0.353	SRP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276643.2	NM_003136		9	30	9	30	---	---	---	---
TTC6	319089	broad.mit.edu	37	14	38296498	38296498	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr14:38296498C>T	ENST00000476979.1	+	11	1414	c.1127C>T	c.(1126-1128)aCt>aTt	p.T376I	TTC6_ENST00000553443.1_Missense_Mutation_p.T1742I|RNU6-1277P_ENST00000364561.1_RNA|TTC6_ENST00000267368.7_Missense_Mutation_p.T376I|TTC6_ENST00000382320.3_Missense_Mutation_p.T456I			Q86TZ1	TTC6_HUMAN	tetratricopeptide repeat domain 6	376			T -> S (in dbSNP:rs17107176).							central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		GATGCAATTACTCTAAACCCC	0.403																																						ENST00000553443.1																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14						c.(5224-5226)aCt>aTt		tetratricopeptide repeat domain 6							185.0	171.0	176.0					14																	38296498		2203	4300	6503	SO:0001583	missense	319089							g.chr14:38296498C>T	BC014342		14q13.1	2013-01-10			ENSG00000139865	ENSG00000139865		"""Tetratricopeptide (TTC) repeat domain containing"""	19739	protein-coding gene	gene with protein product			"""non-protein coding RNA 291"", ""chromosome 14 open reading frame 25"""	NCRNA00291, C14orf25			Standard	XM_006709976		Approved		uc001wuj.3	Q86TZ1	OTTHUMG00000157369	ENST00000476979.1:c.1127C>T	14.37:g.38296498C>T	ENSP00000417788:p.Thr376Ile		Somatic				TTC6_ENST00000476979.1_Missense_Mutation_p.T376I|TTC6_ENST00000382320.3_Missense_Mutation_p.T456I|TTC6_ENST00000267368.7_Missense_Mutation_p.T376I	p.T1742I			WXS	Illumina GAIIx	Phase_I			Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)	29	5225	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)							Q3SY88|Q96CE6	Missense_Mutation	SNP	ENST00000476979.1	37	c.5225C>T		.	.	.	.	.	.	.	.	.	.	C	11.73	1.724616	0.30593	.	.	ENSG00000139865	ENST00000553443;ENST00000476979;ENST00000267368;ENST00000382320	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.25	4.36	0.52297	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.384434	0.25654	N	0.029200	T	0.63165	0.2488	L	0.52905	1.665	0.09310	N	0.999999	B;B	0.33103	0.397;0.042	B;B	0.40782	0.34;0.061	T	0.73033	-0.4110	9	0.54805	T	0.06	-1.4496	13.3789	0.60757	0.0:0.9233:0.0:0.0767	.	1742;376	G3V3A5;Q86TZ1	.;TTC6_HUMAN	I	1742;376;376;456	ENSP00000451131:T1742I;ENSP00000417788:T376I;ENSP00000267368:T376I;ENSP00000371757:T456I	ENSP00000267368:T376I	T	+	2	0	TTC6	37366249	0.778000	0.28640	0.997000	0.53966	0.754000	0.42855	2.148000	0.42235	1.227000	0.43598	-0.218000	0.12543	ACT		0.403	TTC6-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000348621.2	XM_002343299		68	103	68	103	---	---	---	---
CHGA	1113	broad.mit.edu	37	14	93399080	93399080	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr14:93399080C>T	ENST00000216492.5	+	7	1454	c.1174C>T	c.(1174-1176)Cga>Tga	p.R392*	CHGA_ENST00000334654.4_Nonsense_Mutation_p.R241*	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	392					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		GCAGCTGCGACGAGGCTGGAG	0.701																																					Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)	ENST00000216492.5																			0				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8						c.(1174-1176)Cga>Tga		chromogranin A (parathyroid secretory protein 1)							12.0	14.0	13.0					14																	93399080		2192	4278	6470	SO:0001587	stop_gained	1113				regulation of blood pressure	extracellular region|stored secretory granule		g.chr14:93399080C>T		CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"""vasostatin"", ""pancreastatin"", ""parastatin"""	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.1174C>T	14.37:g.93399080C>T	ENSP00000216492:p.Arg392*		Somatic				CHGA_ENST00000334654.4_Nonsense_Mutation_p.R241*	p.R392*	NM_001275.3	NP_001266.1	WXS	Illumina GAIIx	Phase_I	P10645	CMGA_HUMAN		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)	7	1454	+		all_cancers(154;0.0843)	392					B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	Nonsense_Mutation	SNP	ENST00000216492.5	37	c.1174C>T	CCDS9906.1	.	.	.	.	.	.	.	.	.	.	C	35	5.419970	0.96111	.	.	ENSG00000100604	ENST00000216492;ENST00000334654	.	.	.	4.71	2.62	0.31277	.	0.400442	0.21601	N	0.071941	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.3963	8.1442	0.31102	0.3287:0.5366:0.1347:0.0	.	.	.	.	X	392;241	.	ENSP00000216492:R392X	R	+	1	2	CHGA	92468833	0.869000	0.29996	0.109000	0.21407	0.345000	0.29048	1.147000	0.31602	0.932000	0.37266	0.555000	0.69702	CGA		0.701	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412411.1	NM_001275		6	10	6	10	---	---	---	---
JAG2	3714	broad.mit.edu	37	14	105618060	105618060	+	Silent	SNP	G	G	A			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr14:105618060G>A	ENST00000331782.3	-	8	1459	c.1056C>T	c.(1054-1056)acC>acT	p.T352T	JAG2_ENST00000347004.2_Silent_p.T352T|RP11-44N21.4_ENST00000548203.1_RNA	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	352	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		ACGGGTTGGAGGTGCAGGCGT	0.682																																						ENST00000331782.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(1054-1056)acC>acT		jagged 2							30.0	27.0	28.0					14																	105618060		2198	4298	6496	SO:0001819	synonymous_variant	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105618060G>A	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.1056C>T	14.37:g.105618060G>A			Somatic				JAG2_ENST00000347004.2_Silent_p.T352T	p.T352T	NM_002226.4	NP_002217.3	WXS	Illumina GAIIx	Phase_I	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	8	1459	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	352			EGF-like 4.		Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Silent	SNP	ENST00000331782.3	37	c.1056C>T	CCDS9998.1																																																																																				0.682	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			3	34	3	34	---	---	---	---
USP8	9101	broad.mit.edu	37	15	50790907	50790907	+	Silent	SNP	T	T	C			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr15:50790907T>C	ENST00000396444.3	+	19	3491	c.3153T>C	c.(3151-3153)taT>taC	p.Y1051Y	RP11-562A8.4_ENST00000560380.1_RNA|RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000307179.4_Silent_p.Y1051Y|USP8_ENST00000433963.1_Silent_p.Y1051Y|USP8_ENST00000425032.3_Silent_p.Y945Y|USP50_ENST00000530218.1_5'Flank	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	1051	USP.				cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TGAAGAAATATAATTTGTTTT	0.328																																						ENST00000433963.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(3151-3153)taT>taC		ubiquitin specific peptidase 8							44.0	49.0	47.0					15																	50790907		2196	4292	6488	SO:0001819	synonymous_variant	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50790907T>C	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.3153T>C	15.37:g.50790907T>C			Somatic				USP8_ENST00000307179.4_Silent_p.Y1051Y|USP8_ENST00000425032.3_Silent_p.Y945Y|USP8_ENST00000396444.3_Silent_p.Y1051Y|RP11-562A8.4_ENST00000560380.1_RNA	p.Y1051Y			WXS	Illumina GAIIx	Phase_I	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	20	3653	+			1051					B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Silent	SNP	ENST00000396444.3	37	c.3153T>C	CCDS10137.1																																																																																				0.328	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		15	41	15	41	---	---	---	---
CHD9	80205	broad.mit.edu	37	16	53243397	53243397	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr16:53243397C>A	ENST00000398510.3	+	2	1543	c.1456C>A	c.(1456-1458)Cca>Aca	p.P486T	CHD9_ENST00000447540.1_Missense_Mutation_p.P486T|CHD9_ENST00000566029.1_Missense_Mutation_p.P486T|CHD9_ENST00000564845.1_Missense_Mutation_p.P486T			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	486					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TCTGTAGCCTCCATCTTCCAA	0.348																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(1456-1458)Cca>Aca		chromodomain helicase DNA binding protein 9							34.0	30.0	32.0					16																	53243397		1805	4075	5880	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53243397C>A	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.1456C>A	16.37:g.53243397C>A	ENSP00000381522:p.Pro486Thr		Somatic				CHD9_ENST00000447540.1_Missense_Mutation_p.P486T|CHD9_ENST00000564845.1_Missense_Mutation_p.P486T|CHD9_ENST00000398510.3_Missense_Mutation_p.P486T	p.P486T			WXS	Illumina GAIIx	Phase_I	Q3L8U1	CHD9_HUMAN			3	1665	+		all_cancers(37;0.0212)	486					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.1456C>A		.	.	.	.	.	.	.	.	.	.	C	12.63	1.996276	0.35226	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	T;T	0.53206	0.63;0.63	5.55	5.55	0.83447	.	0.000000	0.56097	D	0.000022	T	0.67306	0.2879	L	0.60455	1.87	0.47276	D	0.999375	D;P;D;D;D	0.89917	0.998;0.571;1.0;0.961;1.0	D;B;D;P;D	0.87578	0.981;0.301;0.994;0.691;0.998	T	0.66352	-0.5945	10	0.51188	T	0.08	-12.8183	19.5027	0.95103	0.0:1.0:0.0:0.0	.	12;486;486;486;486	B4DR07;Q3L8U1-3;Q3L8U1;Q8NAR9;Q3L8U1-2	.;.;CHD9_HUMAN;.;.	T	486;486;12	ENSP00000396345:P486T;ENSP00000381522:P486T	ENSP00000219084:P12T	P	+	1	0	CHD9	51800898	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	4.259000	0.58828	2.610000	0.88304	0.655000	0.94253	CCA		0.348	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		5	14	5	14	---	---	---	---
CDH3	1001	broad.mit.edu	37	16	68712160	68712160	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr16:68712160T>C	ENST00000264012.4	+	4	914	c.370T>C	c.(370-372)Ttc>Ctc	p.F124L	CDH3_ENST00000429102.2_Missense_Mutation_p.F124L|CDH3_ENST00000581171.1_Missense_Mutation_p.F69L	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	124	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CAAGGGTCCCTTCCCCCAGAG	0.507																																						ENST00000264012.4																			2	Unknown(2)	p.?(2)	breast(2)	NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25						c.(370-372)Ttc>Ctc		cadherin 3, type 1, P-cadherin (placental)							107.0	103.0	104.0					16																	68712160		2198	4300	6498	SO:0001583	missense	1001				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	g.chr16:68712160T>C	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	1762	protein-coding gene	gene with protein product		114021	"""cadherin 3, P-cadherin (placental)"""			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.370T>C	16.37:g.68712160T>C	ENSP00000264012:p.Phe124Leu		Somatic				CDH3_ENST00000581171.1_Missense_Mutation_p.F69L|CDH3_ENST00000429102.2_Missense_Mutation_p.F124L	p.F124L	NM_001793.4	NP_001784.2	WXS	Illumina GAIIx	Phase_I	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	4	914	+		Ovarian(137;0.0564)	124			Cadherin 1.		B2R6F4|Q05DI6	Missense_Mutation	SNP	ENST00000264012.4	37	c.370T>C	CCDS10868.1	.	.	.	.	.	.	.	.	.	.	T	31	5.069165	0.93950	.	.	ENSG00000062038	ENST00000429102;ENST00000264012;ENST00000542274	T;T	0.50548	0.74;0.74	5.82	5.82	0.92795	Cadherin (3);Cadherin-like (1);	0.179440	0.27088	N	0.020988	T	0.58680	0.2139	L	0.58925	1.835	0.51767	D	0.999931	P	0.46706	0.883	P	0.54924	0.764	T	0.56565	-0.7958	10	0.38643	T	0.18	.	14.1403	0.65316	0.0:0.0:0.0:1.0	.	124	P22223	CADH3_HUMAN	L	124;124;69	ENSP00000398485:F124L;ENSP00000264012:F124L	ENSP00000264012:F124L	F	+	1	0	CDH3	67269661	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	5.430000	0.66501	2.223000	0.72356	0.455000	0.32223	TTC		0.507	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		34	96	34	96	---	---	---	---
NCOR1	9611	broad.mit.edu	37	17	15965015	15965015	+	Missense_Mutation	SNP	T	T	C	rs543425229		TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr17:15965015T>C	ENST00000268712.3	-	37	5838	c.5581A>G	c.(5581-5583)Agt>Ggt	p.S1861G	NCOR1_ENST00000395857.3_Missense_Mutation_p.S445G|NCOR1_ENST00000395851.1_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1861	Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGCTGTTCACTAACTGCTGCT	0.483													T|||	1	0.000199681	0.0	0.0014	5008	,	,		21527	0.0		0.0	False		,,,				2504	0.0					ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(5581-5583)Agt>Ggt		nuclear receptor corepressor 1							93.0	90.0	91.0					17																	15965015		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15965015T>C	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.5581A>G	17.37:g.15965015T>C	ENSP00000268712:p.Ser1861Gly		Somatic				NCOR1_ENST00000395851.1_Intron|NCOR1_ENST00000395857.3_Missense_Mutation_p.S445G	p.S1861G	NM_006311.3	NP_006302.2	WXS	Illumina GAIIx	Phase_I	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	37	5838	-			1861			Interaction with C1D (By similarity).		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.5581A>G	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	T	13.16	2.153613	0.38021	.	.	ENSG00000141027	ENST00000268712;ENST00000395849;ENST00000395857	T;T	0.48522	0.81;0.83	5.87	4.78	0.61160	.	0.317981	0.38272	N	0.001752	T	0.34658	0.0905	L	0.36672	1.1	0.27031	N	0.964247	B;B;B;P	0.39282	0.185;0.304;0.104;0.666	B;B;B;B	0.36289	0.155;0.105;0.039;0.221	T	0.33548	-0.9864	10	0.45353	T	0.12	-9.8537	8.8578	0.35238	0.0:0.1448:0.0:0.8552	.	671;1765;1861;381	B4DZ48;E7EVK1;O75376;Q86YY1	.;.;NCOR1_HUMAN;.	G	1861;1765;445	ENSP00000268712:S1861G;ENSP00000379198:S445G	ENSP00000268712:S1861G	S	-	1	0	NCOR1	15905740	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.805000	0.38883	2.247000	0.74100	0.528000	0.53228	AGT		0.483	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		43	97	43	97	---	---	---	---
SPOP	8405	broad.mit.edu	37	17	47696424	47696424	+	Missense_Mutation	SNP	G	G	C	rs193921065		TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr17:47696424G>C	ENST00000393328.2	-	6	764	c.399C>G	c.(397-399)ttC>ttG	p.F133L	SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000393331.3_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F133L(7)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TGAATTTCTTGAATCCCCAGT	0.448										Prostate(2;0.17)																												ENST00000393331.3																			7	Substitution - Missense(7)	p.F133L(7)	prostate(7)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(397-399)ttC>ttG		speckle-type POZ protein							118.0	120.0	119.0					17																	47696424		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696424G>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.399C>G	17.37:g.47696424G>C	ENSP00000377001:p.Phe133Leu	Prostate(2;0.17)	Somatic				SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000393328.2_Missense_Mutation_p.F133L|SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L	p.F133L	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	WXS	Illumina GAIIx	Phase_I	O43791	SPOP_HUMAN			7	869	-			133			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.399C>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921613	0.73213	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.41	4.33	0.51752	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.58722	0.2142	M	0.80847	2.515	0.80722	D	1	P	0.52692	0.955	P	0.55087	0.768	T	0.62732	-0.6792	10	0.44086	T	0.13	-9.6576	13.4952	0.61421	0.0813:0.0:0.9187:0.0	.	133	O43791	SPOP_HUMAN	L	133;133;133;133;17;133;86;133;133;133;133	ENSP00000377001:F133L;ENSP00000377004:F133L;ENSP00000240327:F133L;ENSP00000425905:F133L;ENSP00000420908:F133L;ENSP00000426986:F133L;ENSP00000420960:F133L;ENSP00000426262:F133L;ENSP00000424119:F133L	ENSP00000240327:F133L	F	-	3	2	SPOP	45051423	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.591000	0.36665	1.345000	0.45676	0.563000	0.77884	TTC		0.448	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		54	91	54	91	---	---	---	---
MIR99AHG	388815	broad.mit.edu	37	21	17443441	17443441	+	lincRNA	SNP	T	T	C			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr21:17443441T>C	ENST00000458468.1	+	0	35					NR_027790.1																						TAGATGGATCTGAGAACGCTG	0.463																																						ENST00000458468.1																			0																				119.0	116.0	117.0					21																	17443441		2203	4300	6503			388815							g.chr21:17443441T>C																													21.37:g.17443441T>C			Somatic						NR_027790.1		WXS	Illumina GAIIx	Phase_I					0	35	+									RNA	SNP	ENST00000458468.1	37																																																																																						0.463	LINC00478-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000158029.1			40	130	40	130	---	---	---	---
ARHGEF9	23229	broad.mit.edu	37	X	62857909	62857909	+	Silent	SNP	C	C	T			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chrX:62857909C>T	ENST00000253401.6	-	10	2350	c.1550G>A	c.(1549-1551)tGa>tAa	p.*517*	ARHGEF9_ENST00000374878.1_Intron|ARHGEF9_ENST00000433323.2_Silent_p.*244*|ARHGEF9_ENST00000437457.2_Silent_p.*464*|ARHGEF9_ENST00000374870.4_Silent_p.*415*|ARHGEF9_ENST00000374872.1_Silent_p.*496*|ARHGEF9_ENST00000495564.1_5'UTR	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	0					apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CTGTAGGTATCATTTTTTGAA	0.403																																						ENST00000253401.6																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						c.(1549-1551)tGa>tAa		Cdc42 guanine nucleotide exchange factor (GEF) 9							51.0	46.0	48.0					X																	62857909		2203	4300	6503	SO:0001819	synonymous_variant	23229				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chrX:62857909C>T	AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14561	protein-coding gene	gene with protein product	"""collybistin"""	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.1550G>A	X.37:g.62857909C>T			Somatic				ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000437457.2_Silent_p.*464*|ARHGEF9_ENST00000374872.1_Silent_p.*496*|ARHGEF9_ENST00000374870.4_Silent_p.*415*|ARHGEF9_ENST00000433323.2_Silent_p.*244*|ARHGEF9_ENST00000374878.1_Intron	p.*517*	NM_015185.2	NP_056000.1	WXS	Illumina GAIIx	Phase_I	O43307	ARHG9_HUMAN			10	2350	-			0					A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Silent	SNP	ENST00000253401.6	37	c.1550G>A	CCDS35315.1																																																																																				0.403	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1			6	1	6	1	---	---	---	---
RGAG4	340526	broad.mit.edu	37	X	71351091	71351091	+	Silent	SNP	C	C	T			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chrX:71351091C>T	ENST00000545866.1	-	1	667	c.300G>A	c.(298-300)tcG>tcA	p.S100S	NHSL2_ENST00000535692.1_5'Flank|NHSL2_ENST00000510661.1_5'Flank|NHSL2_ENST00000373677.1_5'Flank|NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000609883.1_Silent_p.S100S	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	100										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					AAAGATCATCCGAGATACAGT	0.657																																						ENST00000545866.1																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24						c.(298-300)tcG>tcA		retrotransposon gag domain containing 4							20.0	24.0	23.0					X																	71351091		1910	4100	6010	SO:0001819	synonymous_variant	340526							g.chrX:71351091C>T	AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.300G>A	X.37:g.71351091C>T			Somatic				RGAG4_ENST00000609883.1_Silent_p.S100S|NHSL2_ENST00000540800.1_Intron	p.S100S	NM_001024455.3	NP_001019626.1	WXS	Illumina GAIIx	Phase_I	Q5HYW3	RGAG4_HUMAN			1	667	-	Renal(35;0.156)		100					A7E2W7|Q8NCM4|Q9NPX1	Silent	SNP	ENST00000545866.1	37	c.300G>A	CCDS55446.1																																																																																				0.657	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455		9	5	9	5	---	---	---	---
GBA3	57733	broad.mit.edu	37	4	22729298	22729299	+	RNA	INS	-	-	T	rs532279707		TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr4:22729298_22729299insT	ENST00000503442.1	+	0	149				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.2_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TTTCTTTCACATTTTCAAATGA	0.421																																						ENST00000511446.2																			0				breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33								glucosidase, beta, acid 3 (gene/pseudogene)																																						57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22729298_22729299insT	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22729302_22729302dupT			Somatic				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000508166.1_RNA		NM_001277225.1	NP_001264154.1	WXS	Illumina GAIIx	Phase_I	Q9H227	GBA3_HUMAN			0	62	+								Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	RNA	INS	ENST00000503442.1	37																																																																																						0.421	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			58	119	58	119	---	---	---	---
