#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
HTR1D	3352	broad.mit.edu	37	1	23520602	23520602	+	Silent	SNP	G	G	C			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr1:23520602G>C	ENST00000374619.1	-	1	620	c.111C>G	c.(109-111)ctC>ctG	p.L37L	HTR1D_ENST00000314113.3_Silent_p.L37L	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	37					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)	GGGAGATCTTGAGCGCCTGGA	0.567																																						uc001bgn.2		NA																	0					0						c.(109-111)CTC>CTG		5-hydroxytryptamine (serotonin) receptor 1D	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)						153.0	139.0	144.0					1																	23520602		2203	4300	6503	SO:0001819	synonymous_variant	3352				G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity	g.chr1:23520602G>C	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.111C>G	1.37:g.23520602G>C							p.L37L	NM_000864	NP_000855	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	621	-		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)	37			Extracellular (By similarity).			Silent	SNP	ENST00000374619.1	37	c.111C>G	CCDS231.1																																																																																				0.567	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008924.1	NM_000864		9	126	0	0	0	0	9	126				
GPATCH3	63906	broad.mit.edu	37	1	27226896	27226896	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr1:27226896A>G	ENST00000361720.5	-	1	61	c.38T>C	c.(37-39)gTt>gCt	p.V13A		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	13							nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		TACCAGGTAAACTGTCGCCTC	0.592																																						uc001bne.2		NA																	0					0						c.(37-39)GTT>GCT		G patch domain containing 3							40.0	39.0	40.0					1																	27226896		2203	4300	6503	SO:0001583	missense	63906					intracellular	nucleic acid binding	g.chr1:27226896A>G	BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"""G patch domain containing"""	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229	ENST00000361720.5:c.38T>C	1.37:g.27226896A>G	ENSP00000354645:p.Val13Ala					GPATCH3_uc009vsp.1_5'UTR	p.V13A	NM_022078	NP_071361	Q96I76	GPTC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)	1	67	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	13					Q5JYH2|Q8NDJ2|Q9H9Z3	Missense_Mutation	SNP	ENST00000361720.5	37	c.38T>C	CCDS290.1	.	.	.	.	.	.	.	.	.	.	A	14.91	2.677055	0.47886	.	.	ENSG00000198746	ENST00000361720;ENST00000536641	T	0.32515	1.45	5.5	5.5	0.81552	.	0.363207	0.28847	N	0.013958	T	0.28962	0.0719	L	0.45581	1.43	0.80722	D	1	P	0.39665	0.682	B	0.36378	0.223	T	0.09997	-1.0649	10	0.72032	D	0.01	-5.6877	13.9976	0.64411	1.0:0.0:0.0:0.0	.	13	Q96I76	GPTC3_HUMAN	A	13	ENSP00000354645:V13A	ENSP00000354645:V13A	V	-	2	0	GPATCH3	27099483	0.999000	0.42202	0.931000	0.37212	0.448000	0.32197	3.889000	0.56212	2.302000	0.77476	0.533000	0.62120	GTT		0.592	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012181.1	NM_022078		3	68	0	0	0	0	3	68				
JAK1	3716	broad.mit.edu	37	1	65307005	65307005	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr1:65307005C>G	ENST00000342505.4	-	19	2820	c.2572G>C	c.(2572-2574)Gaa>Caa	p.E858Q	JAK1_ENST00000465376.1_5'Flank	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	858					cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	GGTTTTTTTTCTGAAACAATA	0.473			Mis		ALL																																	uc001dbu.1		NA		Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61						c.(2572-2574)GAA>CAA		janus kinase 1							89.0	90.0	89.0					1																	65307005		1863	4100	5963	SO:0001583	missense	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65307005C>G	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.2572G>C	1.37:g.65307005C>G	ENSP00000343204:p.Glu858Gln					JAK1_uc009wam.1_Missense_Mutation_p.E846Q|JAK1_uc009wal.1_Missense_Mutation_p.E35Q	p.E858Q	NM_002227	NP_002218	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	19	2821	-			858					Q59GQ2|Q9UD26	Missense_Mutation	SNP	ENST00000342505.4	37	c.2572G>C	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.669644	0.29693	.	.	ENSG00000162434	ENST00000342505	T	0.76060	-0.99	5.25	4.3	0.51218	Protein kinase-like domain (1);	.	.	.	.	T	0.45135	0.1327	N	0.17082	0.46	0.39083	D	0.960954	B	0.23442	0.085	B	0.16289	0.015	T	0.35500	-0.9786	9	0.25751	T	0.34	-7.2378	16.0463	0.80724	0.0:0.8663:0.1337:0.0	.	858	P23458	JAK1_HUMAN	Q	858	ENSP00000343204:E858Q	ENSP00000343204:E858Q	E	-	1	0	JAK1	65079593	0.717000	0.27966	0.762000	0.31397	0.520000	0.34377	2.157000	0.42320	2.722000	0.93159	0.557000	0.71058	GAA		0.473	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		16	143	0	0	0	0	16	143				
FCRLB	127943	broad.mit.edu	37	1	161697058	161697058	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr1:161697058C>G	ENST00000367948.2	+	8	1102	c.887C>G	c.(886-888)tCc>tGc	p.S296C	FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000367944.3_Silent_p.L254L|FCRLB_ENST00000367946.3_Missense_Mutation_p.P248A|FCRLB_ENST00000392158.1_Missense_Mutation_p.S296C|FCRLB_ENST00000367945.1_Missense_Mutation_p.P241A|FCRLB_ENST00000336830.5_Silent_p.L261L			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	296					negative regulation of immune response (GO:0050777)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			GACCCGGCCTCCACCACCGCC	0.667																																						uc001gbh.2		NA																	0					0						c.(886-888)TCC>TGC		Fc receptor-like B							22.0	26.0	25.0					1																	161697058		2203	4299	6502	SO:0001583	missense	127943					endoplasmic reticulum		g.chr1:161697058C>G	AY670683	CCDS30927.1, CCDS72962.1, CCDS72963.1, CCDS72964.1, CCDS72965.1	1q23.3	2013-01-11	2006-09-26	2006-09-26	ENSG00000162746	ENSG00000162746		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26431	protein-coding gene	gene with protein product		609251	"""Fc receptor-like and mucin-like 2"""	FCRLM2		15676285	Standard	NM_001288829		Approved	FLJ31052, FCRL2, FREB-2, FCRLY	uc001gbi.3	Q6BAA4	OTTHUMG00000133629	ENST00000367948.2:c.887C>G	1.37:g.161697058C>G	ENSP00000356925:p.Ser296Cys					FCRLB_uc009wus.2_Missense_Mutation_p.S296C|FCRLB_uc001gbj.2_Missense_Mutation_p.P248A|FCRLB_uc001gbk.2_Silent_p.L261L|FCRLB_uc001gbl.2_Missense_Mutation_p.P241A|FCRLB_uc001gbm.2_Silent_p.L254L|FCRLB_uc001gbi.2_Missense_Mutation_p.S296C|FCRLB_uc001gbn.3_Silent_p.L298L	p.S296C	NM_001002901	NP_001002901	Q6BAA4	FCRLB_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00634)		8	1121	+	all_hematologic(112;0.0359)		296					A2A3J5|A2A3J7|Q5VXA6|Q6BAA0|Q6BAA1|Q6BAA2|Q6BAA3|Q8IXZ7	Missense_Mutation	SNP	ENST00000367948.2	37	c.887C>G	CCDS30927.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.46|13.46	2.243255|2.243255	0.39697|0.39697	.|.	.|.	ENSG00000162746|ENSG00000162746	ENST00000367946;ENST00000367945|ENST00000367948;ENST00000392158	T;T|D;D	0.01947|0.97089	4.54;4.56|-4.24;-4.24	4.07|4.07	1.98|1.98	0.26296|0.26296	.|.	.|0.381427	.|0.19366	.|N	.|0.116030	D|D	0.90061|0.90061	0.6896|0.6896	M|M	0.68593|0.68593	2.085|2.085	0.09310|0.09310	N|N	1|1	B;B|P	0.32101|0.51653	0.356;0.356|0.947	B;B|B	0.29176|0.36959	0.099;0.099|0.237	D|D	0.84359|0.84359	0.0537|0.0537	9|10	0.72032|0.49607	D|T	0.01|0.09	.|.	5.58|5.58	0.17245|0.17245	0.0:0.7075:0.0:0.2925|0.0:0.7075:0.0:0.2925	.|.	241;248|296	Q6BAA4-5;Q6BAA4-4|Q6BAA4	.;.|FCRLB_HUMAN	A|C	248;241|296	ENSP00000356923:P248A;ENSP00000356922:P241A|ENSP00000356925:S296C;ENSP00000375999:S296C	ENSP00000356922:P241A|ENSP00000356925:S296C	P|S	+|+	1|2	0|0	FCRLB|FCRLB	159963682|159963682	0.091000|0.091000	0.21658|0.21658	0.036000|0.036000	0.18154|0.18154	0.192000|0.192000	0.23643|0.23643	1.815000|1.815000	0.38981|0.38981	0.292000|0.292000	0.22492|0.22492	0.455000|0.455000	0.32223|0.32223	CCA|TCC		0.667	FCRLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083585.1	NM_152378		3	47	0	0	0	0	3	47				
GLUL	2752	broad.mit.edu	37	1	182355001	182355001	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr1:182355001C>T	ENST00000331872.6	-	5	1037	c.497G>A	c.(496-498)gGa>gAa	p.G166E	GLUL_ENST00000417584.2_Missense_Mutation_p.G166E|GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000339526.4_Missense_Mutation_p.G166E|GLUL_ENST00000311223.5_Missense_Mutation_p.G166E	NM_001033044.2	NP_001028216.1	P15104	GLNA_HUMAN	glutamate-ammonia ligase	166					cell proliferation (GO:0008283)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to starvation (GO:0009267)|glutamate catabolic process (GO:0006538)|glutamine biosynthetic process (GO:0006542)|neurotransmitter uptake (GO:0001504)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of insulin secretion (GO:0032024)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein homooligomerization (GO:0051260)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glial cell projection (GO:0097386)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|glutamate-ammonia ligase activity (GO:0004356)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Ceftriaxone(DB01212)|Diazoxide(DB01119)|L-Glutamine(DB00130)|L-Methionine(DB00134)|Pegvisomant(DB00082)	TCTGTCTGCTCCCACACCACA	0.512																																						uc001gpa.1		NA																	0					0						c.(496-498)GGA>GAA		glutamine synthetase	Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)						123.0	130.0	128.0					1																	182355001		2203	4298	6501	SO:0001583	missense	2752				cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding	g.chr1:182355001C>T	AL161952	CCDS1344.1	1q31	2010-05-04	2010-05-04		ENSG00000135821	ENSG00000135821	6.3.1.2		4341	protein-coding gene	gene with protein product	"""glutamine synthetase"""	138290	"""glutamate-ammonia ligase (glutamine synthase)"""	GLNS		1681907, 2888076	Standard	NM_002065		Approved		uc001gpa.2	P15104	OTTHUMG00000037407	ENST00000331872.6:c.497G>A	1.37:g.182355001C>T	ENSP00000356537:p.Gly166Glu					GLUL_uc010pnt.1_5'Flank|GLUL_uc001gpb.1_Missense_Mutation_p.G166E|GLUL_uc001gpc.1_Missense_Mutation_p.G166E|GLUL_uc001gpd.1_Missense_Mutation_p.G166E	p.G166E	NM_001033056	NP_001028228	P15104	GLNA_HUMAN			5	709	-			166					Q499Y9|Q5T9Z1|Q7Z3W4|Q8IZ17	Missense_Mutation	SNP	ENST00000331872.6	37	c.497G>A	CCDS1344.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.448518|5.448518	0.96205|0.96205	.|.	.|.	ENSG00000135821|ENSG00000135821	ENST00000435013|ENST00000331872;ENST00000311223;ENST00000417584;ENST00000339526	.|D;D;D;D	.|0.86297	.|-2.1;-2.1;-2.1;-2.1	5.29|5.29	5.29|5.29	0.74685|0.74685	.|Glutamine synthetase, catalytic domain (1);Glutamine synthetase/guanido kinase, catalytic domain (1);	.|0.107189	.|0.64402	.|D	.|0.000005	D|D	0.96380|0.96380	0.8819|0.8819	H|H	0.98333|0.98333	4.205|4.205	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.98109|0.98109	1.0419|1.0419	6|10	0.56958|0.87932	D|D	0.05|0	-19.4925|-19.4925	17.4748|17.4748	0.87657|0.87657	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|166	.|P15104	.|GLNA_HUMAN	K|E	166|166	.|ENSP00000356537:G166E;ENSP00000307900:G166E;ENSP00000398320:G166E;ENSP00000344958:G166E	ENSP00000388535:E166K|ENSP00000307900:G166E	E|G	-|-	1|2	0|0	GLUL|GLUL	180621624|180621624	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.451000|7.451000	0.80668|0.80668	2.450000|2.450000	0.82876|0.82876	0.650000|0.650000	0.86243|0.86243	GAG|GGA		0.512	GLUL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091043.1	NM_002065		14	176	0	0	0	0	14	176				
PAPSS2	9060	broad.mit.edu	37	10	89472868	89472868	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr10:89472868C>T	ENST00000361175.4	+	3	551	c.182C>T	c.(181-183)gCc>gTc	p.A61V	PAPSS2_ENST00000456849.1_Missense_Mutation_p.A61V|PAPSS2_ENST00000427144.2_Missense_Mutation_p.A65V|PAPSS2_ENST00000482258.1_3'UTR	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	61					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		ATAAGTTTTGCCCTGGAGGAG	0.473																																						uc001kex.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(181-183)GCC>GTC		3'-phosphoadenosine 5'-phosphosulfate synthase 2							148.0	151.0	150.0					10																	89472868		2203	4300	6503	SO:0001583	missense	9060				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity	g.chr10:89472868C>T	AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.182C>T	10.37:g.89472868C>T	ENSP00000354436:p.Ala61Val					PAPSS2_uc001kew.2_Missense_Mutation_p.A61V|PAPSS2_uc009xtg.1_RNA	p.A61V	NM_004670	NP_004661	O95340	PAPS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)	3	445	+		Melanoma(5;0.019)|Colorectal(252;0.123)	61			Adenylyl-sulfate kinase.		Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Missense_Mutation	SNP	ENST00000361175.4	37	c.182C>T	CCDS7385.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929172	0.92389	.	.	ENSG00000198682	ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981	T;T;T	0.78364	-1.17;-1.17;-1.17	5.87	5.87	0.94306	Adenylylsulphate kinase, C-terminal (3);	0.046950	0.85682	N	0.000000	D	0.89942	0.6861	M	0.90369	3.11	0.80722	D	1	D;D	0.76494	0.98;0.999	P;P	0.61477	0.717;0.889	D	0.91189	0.4982	10	0.87932	D	0	-17.7869	20.2245	0.98337	0.0:1.0:0.0:0.0	.	61;61	O95340;O95340-2	PAPS2_HUMAN;.	V	61;61;65;60	ENSP00000354436:A61V;ENSP00000406157:A61V;ENSP00000397123:A65V	ENSP00000354436:A61V	A	+	2	0	PAPSS2	89462848	1.000000	0.71417	1.000000	0.80357	0.521000	0.34408	7.487000	0.81328	2.770000	0.95276	0.650000	0.86243	GCC		0.473	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049229.1			5	281	0	0	0	0	5	281				
TNKS2	80351	broad.mit.edu	37	10	93602119	93602119	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr10:93602119G>A	ENST00000371627.4	+	16	2409	c.2030G>A	c.(2029-2031)gGc>gAc	p.G677D		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	677					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				GATACCCAAGGCAGACATTCA	0.403																																						uc001khp.2		NA																	0				kidney(3)|skin(3)|ovary(1)|lung(1)	8						c.(2029-2031)GGC>GAC		tankyrase, TRF1-interacting ankyrin-related							122.0	107.0	112.0					10																	93602119		2203	4300	6503	SO:0001583	missense	80351				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr10:93602119G>A	AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.2030G>A	10.37:g.93602119G>A	ENSP00000360689:p.Gly677Asp						p.G677D	NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN			16	2327	+		Colorectal(252;0.162)	677					B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	ENST00000371627.4	37	c.2030G>A	CCDS7417.1	.	.	.	.	.	.	.	.	.	.	G	33	5.246706	0.95305	.	.	ENSG00000107854	ENST00000371627	T	0.71817	-0.6	5.68	5.68	0.88126	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000008	D	0.84964	0.5589	M	0.76727	2.345	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85164	0.0994	10	0.66056	D	0.02	.	20.1595	0.98130	0.0:0.0:1.0:0.0	.	677	Q9H2K2	TNKS2_HUMAN	D	677	ENSP00000360689:G677D	ENSP00000360689:G677D	G	+	2	0	TNKS2	93592099	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.847000	0.97988	0.591000	0.81541	GGC		0.403	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235		5	104	0	0	0	0	5	104				
PDCD11	22984	broad.mit.edu	37	10	105176373	105176373	+	Silent	SNP	C	C	T			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr10:105176373C>T	ENST00000369797.3	+	13	1738	c.1644C>T	c.(1642-1644)ttC>ttT	p.F548F		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	548	S1 motif 6. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CACATGGCTTCATCATCAGGG	0.488											OREG0020494	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001kwy.1		NA																	0				ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7						c.(1642-1644)TTC>TTT		programmed cell death 11							150.0	127.0	135.0					10																	105176373		2203	4300	6503	SO:0001819	synonymous_variant	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105176373C>T	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.1644C>T	10.37:g.105176373C>T			OREG0020494	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1387		p.F548F	NM_014976	NP_055791	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	13	1731	+		Colorectal(252;0.0747)|Breast(234;0.128)	548			S1 motif 6.		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Silent	SNP	ENST00000369797.3	37	c.1644C>T	CCDS31276.1																																																																																				0.488	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			10	131	0	0	0	0	10	131				
PPP2R2D	55844	broad.mit.edu	37	10	133769208	133769208	+	3'UTR	SNP	A	A	G			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr10:133769208A>G	ENST00000470416.1	+	0	593				PPP2R2D_ENST00000422256.2_3'UTR			Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B, delta						exit from mitosis (GO:0010458)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		ACCGGGTCCTATAACAACTTC	0.602																																						uc001lks.2		NA																	0				skin(1)	1						c.(1003-1005)TAT>TGT		protein phosphatase 2, regulatory subunit B,							46.0	49.0	48.0					10																	133769208		2047	4205	6252	SO:0001624	3_prime_UTR_variant	55844				cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	g.chr10:133769208A>G	AF220046	CCDS73224.1	10q26.3	2013-01-10	2010-06-18		ENSG00000175470	ENSG00000175470		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	23732	protein-coding gene	gene with protein product	"""PP2A subunit B isoform delta"""	613992	"""protein phosphatase 2, regulatory subunit B, delta isoform"""			10819331	Standard	XM_005277927		Approved	MDS026	uc001lks.3	Q66LE6	OTTHUMG00000019277	ENST00000470416.1:c.*590A>G	10.37:g.133769208A>G						PPP2R2D_uc001lkr.2_Missense_Mutation_p.Y141C|PPP2R2D_uc001lkt.2_Missense_Mutation_p.Y141C|PPP2R2D_uc009yay.2_Missense_Mutation_p.Y203C	p.Y335C	NM_018461	NP_060931	Q66LE6	2ABD_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)	7	1247	+		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)	368			WD 6.		A8KAK0|Q5SQJ2|Q9P1Y7	Missense_Mutation	SNP	ENST00000470416.1	37	c.1004A>G		.	.	.	.	.	.	.	.	.	.	A	16.96	3.265758	0.59540	.	.	ENSG00000175470	ENST00000455566	T	0.30182	1.54	3.56	3.56	0.40772	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.201390	0.44688	D	0.000430	T	0.54647	0.1871	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.61525	-0.7045	9	0.87932	D	0	-0.8831	12.6226	0.56612	1.0:0.0:0.0:0.0	.	368	Q66LE6	2ABD_HUMAN	C	337	ENSP00000399970:Y337C	ENSP00000399970:Y337C	Y	+	2	0	PPP2R2D	133619198	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	4.118000	0.57884	1.634000	0.50500	0.459000	0.35465	TAT		0.602	PPP2R2D-005	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000051038.1	NM_018461		5	39	0	0	0	0	5	39				
IGSF22	283284	broad.mit.edu	37	11	18743146	18743146	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr11:18743146C>T	ENST00000513874.1	-	4	453	c.314G>A	c.(313-315)gGc>gAc	p.G105D	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	105	Ig-like 1.							p.G105D(2)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GATGGGGATGCCGCTCTCCCT	0.592											OREG0020822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc009yht.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|kidney(1)	7						c.(313-315)GGC>GAC		immunoglobulin superfamily, member 22							118.0	121.0	120.0					11																	18743146		1993	4152	6145	SO:0001583	missense	283284							g.chr11:18743146C>T	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.314G>A	11.37:g.18743146C>T	ENSP00000421191:p.Gly105Asp		OREG0020822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	90	IGSF22_uc001mpa.2_RNA	p.G105D	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN			4	504	-			105			Ig-like 1.		A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	c.314G>A	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	C	21.4	4.145517	0.77888	.	.	ENSG00000179057	ENST00000513874	T	0.68765	-0.35	4.67	3.76	0.43208	.	0.000000	0.33144	U	0.005225	T	0.74099	0.3672	L	0.53780	1.695	0.23997	N	0.996229	D	0.89917	1.0	D	0.91635	0.999	T	0.63139	-0.6704	10	0.24483	T	0.36	.	10.3336	0.43837	0.0:0.9045:0.0:0.0955	.	105	D6RGV7	.	D	105	ENSP00000421191:G105D	ENSP00000322422:G105D	G	-	2	0	IGSF22	18699722	0.996000	0.38824	0.534000	0.28014	0.988000	0.76386	5.121000	0.64691	1.091000	0.41335	0.655000	0.94253	GGC		0.592	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		5	201	0	0	0	0	5	201				
C11orf54	28970	broad.mit.edu	37	11	93488478	93488478	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr11:93488478T>G	ENST00000331239.4	+	6	612	c.433T>G	c.(433-435)Tac>Gac	p.Y145D	C11orf54_ENST00000354421.3_Missense_Mutation_p.Y145D|C11orf54_ENST00000528099.1_Missense_Mutation_p.Y145D|C11orf54_ENST00000528288.1_Missense_Mutation_p.Y145D|C11orf54_ENST00000540113.1_Missense_Mutation_p.Y126D			Q9H0W9	CK054_HUMAN	chromosome 11 open reading frame 54	145					metabolic process (GO:0008152)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ACTGGAGAAATACAGTGAGAA	0.423																																						uc009ywi.2		NA																	0					0						c.(433-435)TAC>GAC		hypothetical protein LOC28970							102.0	95.0	97.0					11																	93488478		2201	4298	6499	SO:0001583	missense	28970					nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding	g.chr11:93488478T>G	AF092133	CCDS8294.1, CCDS66204.1, CCDS73365.1, CCDS73366.1	11q21	2012-08-09			ENSG00000182919	ENSG00000182919			30204	protein-coding gene	gene with protein product		615810				16522806	Standard	NM_014039		Approved	PTD012	uc001pef.3	Q9H0W9	OTTHUMG00000167452	ENST00000331239.4:c.433T>G	11.37:g.93488478T>G	ENSP00000331209:p.Tyr145Asp					C11orf54_uc001pee.1_Intron|C11orf54_uc001pef.2_Missense_Mutation_p.Y145D|C11orf54_uc001peg.2_Missense_Mutation_p.Y145D|C11orf54_uc001peh.2_Missense_Mutation_p.Y145D|C11orf54_uc001pei.2_Missense_Mutation_p.Y126D|C11orf54_uc001pej.2_Missense_Mutation_p.Y126D|C11orf54_uc001pek.2_Missense_Mutation_p.Y34D	p.Y145D	NM_014039	NP_054758	Q9H0W9	CK054_HUMAN			7	764	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	145					A8K850|Q6FI88|Q6XYB0|Q96EI3|Q96IX1|Q9Y6B4	Missense_Mutation	SNP	ENST00000331239.4	37	c.433T>G		.	.	.	.	.	.	.	.	.	.	T	19.96	3.923727	0.73213	.	.	ENSG00000182919	ENST00000528288;ENST00000331239;ENST00000528099;ENST00000354421;ENST00000540113;ENST00000530620;ENST00000524485;ENST00000527363;ENST00000526335;ENST00000533154	.	.	.	5.94	3.65	0.41850	Domain of unknown function DUF1907 (1);	0.053328	0.85682	D	0.000000	T	0.77758	0.4178	M	0.84683	2.71	0.80722	D	1	D;D	0.64830	0.994;0.99	D;P	0.68765	0.96;0.828	T	0.76468	-0.2948	9	0.44086	T	0.13	-11.3604	10.2979	0.43635	0.0:0.1326:0.0:0.8674	.	145;145	Q9H0W9;Q9H0W9-3	CK054_HUMAN;.	D	145;145;145;145;126;126;126;145;145;34	.	ENSP00000331209:Y145D	Y	+	1	0	C11orf54	93128126	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	7.585000	0.82584	0.508000	0.28173	0.482000	0.46254	TAC		0.423	C11orf54-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394671.1	NM_014039		4	105	0	0	0	0	4	105				
KMT2A	4297	broad.mit.edu	37	11	118390377	118390377	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr11:118390377G>T	ENST00000389506.5	+	32	11182	c.11182G>T	c.(11182-11184)Gtg>Ttg	p.V3728L	RP11-770J1.3_ENST00000556583.1_RNA|RP11-770J1.3_ENST00000554407.1_RNA|RP11-770J1.3_ENST00000528578.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000532597.1_RNA|KMT2A_ENST00000534358.1_Missense_Mutation_p.V3731L|KMT2A_ENST00000354520.4_Missense_Mutation_p.V3690L			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3728	FYR C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00876}.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TGATGCAGTTGTGTTCCTCAT	0.502																																						uc001pta.2		NA								T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		0				lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(11182-11184)GTG>TTG		myeloid/lymphoid or mixed-lineage leukemia							221.0	195.0	204.0					11																	118390377		2200	4295	6495	SO:0001583	missense	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118390377G>T	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.11182G>T	11.37:g.118390377G>T	ENSP00000374157:p.Val3728Leu					MLL_uc001ptb.2_Missense_Mutation_p.V3731L	p.V3728L	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	32	11205	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	3728			FYR C-terminal.		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.11182G>T	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771042	0.69992	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	T;T;T	0.46451	0.87;0.87;0.87	5.82	5.82	0.92795	FY-rich, C-terminal (1);FY-rich, C-terminal subgroup (1);	0.061994	0.64402	D	0.000005	T	0.48750	0.1517	N	0.21097	0.63	0.58432	D	0.999999	D;D	0.57899	0.981;0.981	P;P	0.58077	0.832;0.832	T	0.39057	-0.9632	10	0.40728	T	0.16	.	20.1086	0.97902	0.0:0.0:1.0:0.0	.	3731;3728	E9PQG7;Q03164	.;MLL1_HUMAN	L	3731;3728;3690;2638	ENSP00000436786:V3731L;ENSP00000374157:V3728L;ENSP00000346516:V3690L	ENSP00000346516:V3690L	V	+	1	0	MLL	117895587	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.399000	0.73248	2.756000	0.94617	0.563000	0.77884	GTG		0.502	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		16	151	1	0	0.000566183	0.000656322	16	151				
OR8D4	338662	broad.mit.edu	37	11	123777472	123777472	+	Missense_Mutation	SNP	T	T	A	rs139359205		TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr11:123777472T>A	ENST00000321355.2	+	1	364	c.334T>A	c.(334-336)Tgc>Agc	p.C112S		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TATTTCTGAATGCTACATGCT	0.478																																						uc010saa.1		NA																	0				skin(1)	1						c.(334-336)TGC>AGC		olfactory receptor, family 8, subfamily D,		T	SER/CYS	1,4403	2.1+/-5.4	0,1,2201	201.0	195.0	197.0		334	4.5	0.9	11	dbSNP_134	197	0,8598		0,0,4299	no	missense	OR8D4	NM_001005197.1	112	0,1,6500	AA,AT,TT		0.0,0.0227,0.0077	benign	112/315	123777472	1,13001	2202	4299	6501	SO:0001583	missense	338662				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123777472T>A	AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.334T>A	11.37:g.123777472T>A	ENSP00000325381:p.Cys112Ser						p.C112S	NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)	1	334	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	112			Helical; Name=3; (Potential).		Q6IFE9	Missense_Mutation	SNP	ENST00000321355.2	37	c.334T>A	CCDS31698.1	.	.	.	.	.	.	.	.	.	.	T	11.02	1.516396	0.27123	2.27E-4	0.0	ENSG00000181518	ENST00000321355	T	0.00454	7.32	5.68	4.52	0.55395	GPCR, rhodopsin-like superfamily (1);	0.129861	0.35677	N	0.003052	T	0.00328	0.0010	L	0.33137	0.985	0.27685	N	0.946316	B	0.25563	0.129	B	0.22753	0.041	T	0.40701	-0.9549	10	0.40728	T	0.16	.	11.2464	0.49000	0.0:0.0:0.2898:0.7102	.	112	Q8NGM9	OR8D4_HUMAN	S	112	ENSP00000325381:C112S	ENSP00000325381:C112S	C	+	1	0	OR8D4	123282682	0.142000	0.22610	0.912000	0.35992	0.766000	0.43426	0.880000	0.28159	0.936000	0.37367	0.459000	0.35465	TGC		0.478	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197		11	249	0	0	0	0	11	249				
ESYT1	23344	broad.mit.edu	37	12	56527377	56527377	+	Silent	SNP	C	C	T			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr12:56527377C>T	ENST00000394048.5	+	12	1563	c.1299C>T	c.(1297-1299)ttC>ttT	p.F433F	ESYT1_ENST00000541590.1_Silent_p.F433F|ESYT1_ENST00000267113.4_Silent_p.F433F	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	433					lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TCTAGTGGTTCCCTCTACAAG	0.458																																						uc001sjq.2		NA																	0				ovary(4)|skin(1)	5						c.(1297-1299)TTC>TTT		extended synaptotagmin-like protein 1							118.0	110.0	113.0					12																	56527377		2203	4300	6503	SO:0001819	synonymous_variant	23344					integral to membrane		g.chr12:56527377C>T	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.1299C>T	12.37:g.56527377C>T						ESYT1_uc001sjr.2_Silent_p.F433F	p.F433F	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN			12	1349	+			433					A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Silent	SNP	ENST00000394048.5	37	c.1299C>T	CCDS8904.1																																																																																				0.458	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		6	100	0	0	0	0	6	100				
PITPNM2	57605	broad.mit.edu	37	12	123498545	123498545	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr12:123498545C>G	ENST00000542749.1	-	2	186	c.123G>C	c.(121-123)gaG>gaC	p.E41D	PITPNM2_ENST00000280562.5_Missense_Mutation_p.E41D|PITPNM2_ENST00000320201.4_Missense_Mutation_p.E41D|PITPNM2_ENST00000546049.1_Missense_Mutation_p.E41D|PITPNM2_ENST00000392428.1_Missense_Mutation_p.E41D|RN7SL133P_ENST00000585256.1_RNA|PITPNM2_ENST00000451868.2_5'UTR			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	41					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TCTCCAGGATCTCCACGCCGC	0.587																																						uc001uej.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(121-123)GAG>GAC		phosphatidylinositol transfer protein,							127.0	107.0	114.0					12																	123498545		2203	4300	6503	SO:0001583	missense	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123498545C>G	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.123G>C	12.37:g.123498545C>G	ENSP00000437611:p.Glu41Asp					PITPNM2_uc001uek.1_Missense_Mutation_p.E41D|PITPNM2_uc009zxu.1_Missense_Mutation_p.E41D	p.E41D	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	3	262	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		41					Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	c.123G>C	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.738082	0.89573	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749;ENST00000542210	T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46	4.42	4.42	0.53409	START-like domain (1);	0.000000	0.85682	D	0.000000	T	0.79839	0.4515	H	0.97131	3.945	0.28396	N	0.918867	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.87578	0.998;0.997;0.996	T	0.77381	-0.2609	10	0.87932	D	0	-38.6685	11.0082	0.47646	0.0:0.9131:0.0:0.0869	.	41;41;41	A5D8U3;Q9BZ72-2;Q9BZ72	.;.;PITM2_HUMAN	D	41	ENSP00000280562:E41D;ENSP00000322218:E41D;ENSP00000376223:E41D;ENSP00000437611:E41D;ENSP00000437869:E41D	ENSP00000280562:E41D	E	-	3	2	PITPNM2	122064498	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.815000	0.62634	2.168000	0.68352	0.655000	0.94253	GAG		0.587	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		4	108	0	0	0	0	4	108				
HMGB1	3146	broad.mit.edu	37	13	31037677	31037677	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr13:31037677C>G	ENST00000405805.1	-	2	1081	c.141G>C	c.(139-141)gaG>gaC	p.E47D	HMGB1_ENST00000341423.5_Missense_Mutation_p.E47D|HMGB1_ENST00000326004.4_Missense_Mutation_p.E47D|HMGB1_ENST00000468384.1_5'UTR|HMGB1_ENST00000339872.4_Missense_Mutation_p.E47D|HMGB1_ENST00000399489.1_Missense_Mutation_p.E47D|HMGB1_ENST00000399494.1_Missense_Mutation_p.E47D			P09429	HMGB1_HUMAN	high mobility group box 1	47					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dendritic cell chemotaxis (GO:0002407)|DNA ligation involved in DNA repair (GO:0051103)|DNA recombination (GO:0006310)|DNA topological change (GO:0006265)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|myeloid dendritic cell activation (GO:0001773)|negative regulation of apoptotic cell clearance (GO:2000426)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron projection development (GO:0031175)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|V(D)J recombination (GO:0033151)	cell surface (GO:0009986)|condensed chromosome (GO:0000793)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|damaged DNA binding (GO:0003684)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		CCTTCCACCTCTCTGAGCACT	0.408																																						uc001usw.2		NA																	0				ovary(1)	1						c.(139-141)GAG>GAC		high-mobility group box 1							164.0	168.0	167.0					13																	31037677		2203	4300	6503	SO:0001583	missense	3146				base-excision repair, DNA ligation|dendritic cell chemotaxis|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm	chemoattractant activity|cytokine activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr13:31037677C>G	D63874	CCDS9335.1	13q12	2011-07-01	2011-04-05	2002-08-16	ENSG00000189403	ENSG00000189403		"""High-mobility group / Canonical"""	4983	protein-coding gene	gene with protein product	"""high mobility group box 1"", ""Sulfoglucuronyl carbohydrate binding protein"", ""Amphoterin"", ""high mobility group protein 1"""	163905	"""high-mobility group (nonhistone chromosomal) protein 1"", ""high-mobility group box 1"""	HMG1		8661151, 11279268	Standard	NM_002128		Approved	HMG3, SBP-1, DKFZp686A04236	uc001usx.3	P09429	OTTHUMG00000016670	ENST00000405805.1:c.141G>C	13.37:g.31037677C>G	ENSP00000384678:p.Glu47Asp					HMGB1_uc001usz.2_Missense_Mutation_p.E47D|HMGB1_uc001usv.2_Missense_Mutation_p.E47D|HMGB1_uc001usx.2_Missense_Mutation_p.E47D|HMGB1_uc001usy.2_Intron|HMGB1_uc001uta.1_Missense_Mutation_p.E47D	p.E47D	NM_002128	NP_002119	P09429	HMGB1_HUMAN		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)	2	325	-		Lung SC(185;0.0257)	47			HMG box 1.		A5D8W9|Q14321|Q5T7C3|Q6IBE1	Missense_Mutation	SNP	ENST00000405805.1	37	c.141G>C	CCDS9335.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.408273	0.62399	.	.	ENSG00000189403	ENST00000405805;ENST00000339872;ENST00000341423;ENST00000399489;ENST00000399494;ENST00000426225;ENST00000326004;ENST00000398908	T;T;T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29;2.29;2.29	5.53	3.54	0.40534	High mobility group, HMG1/HMG2, subgroup (1);High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);HMG box A DNA-binding domain, conserved site (1);	0.000000	0.53938	D	0.000050	T	0.28797	0.0714	M	0.87758	2.905	0.80722	D	1	B;B;B	0.21071	0.003;0.051;0.008	B;B;B	0.38194	0.086;0.267;0.132	T	0.22417	-1.0217	10	0.59425	D	0.04	.	4.1571	0.10266	0.0:0.5251:0.0:0.4749	.	47;47;47	B7Z965;P09429;Q5T7C4	.;HMGB1_HUMAN;.	D	47	ENSP00000384678:E47D;ENSP00000343040:E47D;ENSP00000345347:E47D;ENSP00000382412:E47D;ENSP00000382417:E47D;ENSP00000369904:E47D;ENSP00000410465:E47D	ENSP00000369904:E47D	E	-	3	2	HMGB1	29935677	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.061000	0.30542	1.339000	0.45563	0.549000	0.68633	GAG		0.408	HMGB1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303998.2	NM_002128		5	243	0	0	0	0	5	243				
HMGB1	3146	broad.mit.edu	37	13	31037728	31037728	+	Silent	SNP	C	C	T			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr13:31037728C>T	ENST00000405805.1	-	2	1030	c.90G>A	c.(88-90)aaG>aaA	p.K30K	HMGB1_ENST00000341423.5_Silent_p.K30K|HMGB1_ENST00000326004.4_Silent_p.K30K|HMGB1_ENST00000468384.1_5'UTR|HMGB1_ENST00000339872.4_Silent_p.K30K|HMGB1_ENST00000399489.1_Silent_p.K30K|HMGB1_ENST00000399494.1_Silent_p.K30K			P09429	HMGB1_HUMAN	high mobility group box 1	30					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dendritic cell chemotaxis (GO:0002407)|DNA ligation involved in DNA repair (GO:0051103)|DNA recombination (GO:0006310)|DNA topological change (GO:0006265)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|myeloid dendritic cell activation (GO:0001773)|negative regulation of apoptotic cell clearance (GO:2000426)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron projection development (GO:0031175)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|V(D)J recombination (GO:0033151)	cell surface (GO:0009986)|condensed chromosome (GO:0000793)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|damaged DNA binding (GO:0003684)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		CATCTGGGTGCTTCTTCTTAT	0.408																																						uc001usw.2		NA																	0				ovary(1)	1						c.(88-90)AAG>AAA		high-mobility group box 1							104.0	109.0	107.0					13																	31037728		2203	4297	6500	SO:0001819	synonymous_variant	3146				base-excision repair, DNA ligation|dendritic cell chemotaxis|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm	chemoattractant activity|cytokine activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr13:31037728C>T	D63874	CCDS9335.1	13q12	2011-07-01	2011-04-05	2002-08-16	ENSG00000189403	ENSG00000189403		"""High-mobility group / Canonical"""	4983	protein-coding gene	gene with protein product	"""high mobility group box 1"", ""Sulfoglucuronyl carbohydrate binding protein"", ""Amphoterin"", ""high mobility group protein 1"""	163905	"""high-mobility group (nonhistone chromosomal) protein 1"", ""high-mobility group box 1"""	HMG1		8661151, 11279268	Standard	NM_002128		Approved	HMG3, SBP-1, DKFZp686A04236	uc001usx.3	P09429	OTTHUMG00000016670	ENST00000405805.1:c.90G>A	13.37:g.31037728C>T						HMGB1_uc001usz.2_Silent_p.K30K|HMGB1_uc001usv.2_Silent_p.K30K|HMGB1_uc001usx.2_Silent_p.K30K|HMGB1_uc001usy.2_Missense_Mutation_p.S15N|HMGB1_uc001uta.1_Silent_p.K30K	p.K30K	NM_002128	NP_002119	P09429	HMGB1_HUMAN		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)	2	274	-		Lung SC(185;0.0257)	30			HMG box 1.		A5D8W9|Q14321|Q5T7C3|Q6IBE1	Silent	SNP	ENST00000405805.1	37	c.90G>A	CCDS9335.1																																																																																				0.408	HMGB1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303998.2	NM_002128		6	196	0	0	0	0	6	196				
RNASE11	122651	broad.mit.edu	37	14	21052160	21052160	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr14:21052160G>T	ENST00000610205.1	-	3	657	c.474C>A	c.(472-474)tgC>tgA	p.C158*	RNASE11_ENST00000432835.2_Nonsense_Mutation_p.C158*|RNASE11_ENST00000553849.1_Nonsense_Mutation_p.C158*|RNASE11_ENST00000398009.2_Nonsense_Mutation_p.C158*|RNASE11_ENST00000555841.1_Nonsense_Mutation_p.C158*|RNASE11_ENST00000398008.2_Nonsense_Mutation_p.C158*	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	158						extracellular region (GO:0005576)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		TAGTGAACTGGCACACTGTAT	0.488																																						uc010ahv.2		NA																	0				ovary(3)	3						c.(472-474)TGC>TGA		ribonuclease, RNase A family, 11 (non-active)							103.0	87.0	92.0					14																	21052160		2203	4300	6503	SO:0001587	stop_gained	122651					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21052160G>T	BC025410	CCDS9553.1	14q11.1	2013-08-05	2004-11-18	2004-11-18	ENSG00000173464	ENSG00000173464		"""Ribonucleases, RNase A"""	19269	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 6"""	C14orf6			Standard	NM_145250		Approved		uc001vxs.3	Q8TAA1	OTTHUMG00000170990	ENST00000610205.1:c.474C>A	14.37:g.21052160G>T	ENSP00000476537:p.Cys158*					RNASE11_uc010ahx.2_Nonsense_Mutation_p.C158*|RNASE11_uc010ahw.2_Nonsense_Mutation_p.C158*|RNASE11_uc001vxs.2_Nonsense_Mutation_p.C158*	p.C158*	NM_145250	NP_660293	Q8TAA1	RNS11_HUMAN	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)	2	659	-	all_cancers(95;0.00238)	all_lung(585;0.235)	158						Nonsense_Mutation	SNP	ENST00000610205.1	37	c.474C>A	CCDS9553.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.280270	0.40294	.	.	ENSG00000173464	ENST00000335950;ENST00000553849;ENST00000555841;ENST00000398009;ENST00000398008;ENST00000432835;ENST00000443456;ENST00000557503;ENST00000557105	.	.	.	3.7	2.8	0.32819	.	0.198191	0.43579	D	0.000552	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.0727	9.9868	0.41846	0.1093:0.0:0.8907:0.0	.	.	.	.	X	158	.	ENSP00000338288:C158X	C	-	3	2	RNASE11	20122000	0.008000	0.16893	0.013000	0.15412	0.004000	0.04260	0.727000	0.25999	0.560000	0.29169	-1.203000	0.01651	TGC		0.488	RNASE11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073662.3	NM_145250		9	85	1	0	0.00448238	0.00506988	9	85				
PLCB2	5330	broad.mit.edu	37	15	40591135	40591135	+	Silent	SNP	C	C	T			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr15:40591135C>T	ENST00000260402.3	-	9	963	c.714G>A	c.(712-714)aaG>aaA	p.K238K	PLCB2_ENST00000456256.2_Silent_p.K238K|PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000557821.1_Silent_p.K238K	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	238					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TCAGGTGCTCCTTCGTCATGT	0.577																																						uc001zld.2		NA																	0				ovary(3)|breast(3)|kidney(1)|pancreas(1)	8						c.(712-714)AAG>AAA		phospholipase C, beta 2							95.0	100.0	98.0					15																	40591135		2038	4180	6218	SO:0001819	synonymous_variant	5330				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40591135C>T		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.714G>A	15.37:g.40591135C>T						PLCB2_uc010bbo.2_Silent_p.K238K|PLCB2_uc010ucm.1_Silent_p.K238K	p.K238K	NM_004573	NP_004564	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	9	1015	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	238					A8K6J2|B9EGH5	Silent	SNP	ENST00000260402.3	37	c.714G>A	CCDS42020.1																																																																																				0.577	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			9	164	0	0	0	0	9	164				
DNAH3	55567	broad.mit.edu	37	16	21136514	21136514	+	Silent	SNP	G	G	A			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr16:21136514G>A	ENST00000261383.3	-	9	1385	c.1386C>T	c.(1384-1386)tcC>tcT	p.S462S	DNAH3_ENST00000415178.1_Silent_p.S462S|CTC-508F8.1_ENST00000575612.1_RNA	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	462	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCATGAAAAGGGAAACGAGGT	0.453																																						uc010vbe.1		NA																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(1384-1386)TCC>TCT		dynein, axonemal, heavy chain 3							110.0	104.0	106.0					16																	21136514		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21136514G>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.1386C>T	16.37:g.21136514G>A						DNAH3_uc002die.2_Silent_p.S433S	p.S462S	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	9	1386	-			462			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.1386C>T	CCDS10594.1																																																																																				0.453	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		8	113	0	0	0	0	8	113				
CMTR2	55783	broad.mit.edu	37	16	71319121	71319121	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr16:71319121C>A	ENST00000338099.5	-	3	1039	c.703G>T	c.(703-705)Gat>Tat	p.D235Y	CMTR2_ENST00000434935.2_Missense_Mutation_p.D235Y			Q8IYT2	CMTR2_HUMAN	cap methyltransferase 2	235	Adrift-type SAM-dependent 2'-O-MTase. {ECO:0000255|PROSITE-ProRule:PRU00946}.				7-methylguanosine mRNA capping (GO:0006370)|cap2 mRNA methylation (GO:0097310)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)										AAACTCCCATCTGCAGTGACC	0.428																																						uc010cga.2		NA																	0				skin(1)	1						c.(703-705)GAT>TAT		FtsJ methyltransferase domain containing 1							105.0	106.0	106.0					16																	71319121		2198	4300	6498	SO:0001583	missense	55783					integral to membrane	methyltransferase activity|nucleic acid binding	g.chr16:71319121C>A	BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917			25635	protein-coding gene	gene with protein product	"""adrift homolog (Drosophila)"""		"""FtsJ methyltransferase domain containing 1"""	FTSJD1		21310715	Standard	NM_018348		Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.703G>T	16.37:g.71319121C>A	ENSP00000337512:p.Asp235Tyr					FTSJD1_uc002ezy.3_Missense_Mutation_p.D235Y|FTSJD1_uc002ezz.3_Missense_Mutation_p.D235Y	p.D235Y	NM_001099642	NP_001093112	Q8IYT2	FTSJ1_HUMAN			3	1109	-			235				S-adenosyl-L-methionine (By similarity).	B2RCD5|D3DWS1|Q8NE77|Q8NFR5|Q9H8Z4|Q9NUS3|Q9NXF5	Missense_Mutation	SNP	ENST00000338099.5	37	c.703G>T	CCDS10898.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.019675	0.54576	.	.	ENSG00000180917	ENST00000338099;ENST00000434935	D;D	0.87334	-2.24;-2.24	6.04	4.08	0.47627	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.000000	0.85682	D	0.000000	D	0.94699	0.8290	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.95644	0.8701	10	0.87932	D	0	-35.9647	12.5663	0.56312	0.0:0.8639:0.0:0.1361	.	235	Q8IYT2	FTSJ1_HUMAN	Y	235	ENSP00000337512:D235Y;ENSP00000411148:D235Y	ENSP00000337512:D235Y	D	-	1	0	FTSJD1	69876622	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.775000	0.68915	1.571000	0.49722	0.561000	0.74099	GAT		0.428	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268984.2	NM_018348		19	75	1	0	9.77e-05	0.000114916	19	75				
SLFN12L	100506736	broad.mit.edu	37	17	33806816	33806816	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr17:33806816G>A	ENST00000260908.7	-	2	530	c.413C>T	c.(412-414)gCc>gTc	p.A138V	RP11-686D22.9_ENST00000587076.1_RNA|SLFN12L_ENST00000361112.4_Missense_Mutation_p.A167V|SLFN12L_ENST00000449046.1_Missense_Mutation_p.A169V	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	138						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						GCTCAACGTGGCAATCTGCGG	0.433																																						uc002hjn.2		NA																	0				ovary(1)	1						c.(499-501)GCC>GTC		schlafen family member 12-like							80.0	68.0	71.0					17																	33806816		692	1591	2283	SO:0001583	missense	342615							g.chr17:33806816G>A	AK172761	CCDS56026.1	17q12	2011-05-24				ENSG00000205045			33920	protein-coding gene	gene with protein product		614956				9846487	Standard	NM_001195790		Approved		uc021tuy.1	Q6IEE8		ENST00000260908.7:c.413C>T	17.37:g.33806816G>A	ENSP00000437635:p.Ala138Val						p.A167V	NM_001145027	NP_001138499					3	1379	-								F5H6G3	Missense_Mutation	SNP	ENST00000260908.7	37	c.500C>T	CCDS56026.1	.	.	.	.	.	.	.	.	.	.	G	8.262	0.811447	0.16537	.	.	ENSG00000205045	ENST00000260908;ENST00000361112;ENST00000449046	T;T;T	0.04049	3.74;3.84;3.72	2.38	-4.75	0.03239	.	.	.	.	.	T	0.02929	0.0087	N	0.20685	0.6	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43491	-0.9388	9	0.52906	T	0.07	.	5.6479	0.17600	0.1931:0.5349:0.272:0.0	.	167	Q6IEE8-2	.	V	138;167;169	ENSP00000437635:A138V;ENSP00000354412:A167V;ENSP00000389348:A169V	ENSP00000437635:A138V	A	-	2	0	SLFN12L	30830929	0.000000	0.05858	0.002000	0.10522	0.010000	0.07245	-2.467000	0.00993	-0.983000	0.03511	0.205000	0.17691	GCC		0.433	SLFN12L-004	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395748.2	XM_496206		3	35	0	0	0	0	3	35				
OR4D2	124538	broad.mit.edu	37	17	56247483	56247483	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr17:56247483C>A	ENST00000545221.1	+	1	467	c.467C>A	c.(466-468)tCt>tAt	p.S156Y		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						TTTGTCCACTCTATTGTCCAG	0.567																																						uc010wnp.1		NA																	0				ovary(1)|breast(1)	2						c.(466-468)TCT>TAT		olfactory receptor, family 4, subfamily D,							123.0	113.0	117.0					17																	56247483		2203	4300	6503	SO:0001583	missense	124538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56247483C>A		CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"""GPCR / Class A : Olfactory receptors"""	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.467C>A	17.37:g.56247483C>A	ENSP00000441354:p.Ser156Tyr						p.S156Y	NM_001004707	NP_001004707	P58180	OR4D2_HUMAN			1	467	+			156			Helical; Name=4; (Potential).		Q6IFN8|Q96R75	Missense_Mutation	SNP	ENST00000545221.1	37	c.467C>A	CCDS32688.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.507865	0.64410	.	.	ENSG00000255713	ENST00000545221	T	0.45668	0.89	5.7	5.7	0.88788	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000053	T	0.72598	0.3480	M	0.91920	3.255	0.36259	D	0.85442	D	0.89917	1.0	D	0.81914	0.995	T	0.82014	-0.0667	10	0.87932	D	0	-40.1034	17.6879	0.88261	0.0:1.0:0.0:0.0	.	156	P58180	OR4D2_HUMAN	Y	156	ENSP00000441354:S156Y	ENSP00000441354:S156Y	S	+	2	0	OR4D2	53602482	0.000000	0.05858	0.996000	0.52242	0.821000	0.46438	0.671000	0.25172	2.855000	0.98099	0.603000	0.83216	TCT		0.567	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1			12	120	1	0	3.07e-06	3.67e-06	12	120				
ZNF676	163223	broad.mit.edu	37	19	22363822	22363822	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr19:22363822C>T	ENST00000397121.2	-	3	1014	c.697G>A	c.(697-699)Gct>Act	p.A233T		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	233					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CGATTAAAAGCTTTGCCACAT	0.363																																						uc002nqs.1		NA																	0					0						c.(697-699)GCT>ACT		zinc finger protein 676							72.0	79.0	77.0					19																	22363822		2174	4286	6460	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363822C>T	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.697G>A	19.37:g.22363822C>T	ENSP00000380310:p.Ala233Thr						p.A233T	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	1015	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	233			C2H2-type 3.		A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.697G>A	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	8.103	0.777148	0.16120	.	.	ENSG00000196109	ENST00000397121	T	0.36157	1.27	0.85	-1.7	0.08159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18551	0.0445	N	0.02674	-0.535	0.09310	N	1	P	0.52692	0.955	P	0.51550	0.673	T	0.14062	-1.0486	9	0.38643	T	0.18	.	4.7936	0.13261	0.6689:0.3311:0.0:0.0	.	233	Q8N7Q3	ZN676_HUMAN	T	233	ENSP00000380310:A233T	ENSP00000380310:A233T	A	-	1	0	ZNF676	22155662	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	-1.310000	0.02725	0.192000	0.20272	0.195000	0.17529	GCT		0.363	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		11	179	0	0	0	0	11	179				
DPY19L3	147991	broad.mit.edu	37	19	32923652	32923652	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr19:32923652G>C	ENST00000342179.5	+	4	483	c.268G>C	c.(268-270)Gag>Cag	p.E90Q	DPY19L3_ENST00000392250.2_Missense_Mutation_p.E90Q|DPY19L3_ENST00000586987.1_Missense_Mutation_p.E90Q	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	90						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					ATTCAGAACAGAGTGTGGCCT	0.408																																						uc002ntg.2		NA																	0				ovary(4)	4						c.(268-270)GAG>CAG		dpy-19-like 3							104.0	88.0	93.0					19																	32923652		2203	4300	6503	SO:0001583	missense	147991					integral to membrane		g.chr19:32923652G>C		CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.268G>C	19.37:g.32923652G>C	ENSP00000344937:p.Glu90Gln					DPY19L3_uc002nth.1_Missense_Mutation_p.E90Q	p.E90Q	NM_207325	NP_997208	Q6ZPD9	D19L3_HUMAN			4	444	+	Esophageal squamous(110;0.162)		90					Q68DC7|Q6ZTB7|Q6ZTS2	Missense_Mutation	SNP	ENST00000342179.5	37	c.268G>C	CCDS12422.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.0|24.0	4.481101|4.481101	0.84747|0.84747	.|.	.|.	ENSG00000178904|ENSG00000178904	ENST00000392250;ENST00000319326;ENST00000342179|ENST00000392248	T;T|.	0.68331|.	-0.32;-0.32|.	5.84|5.84	4.8|4.8	0.61643|0.61643	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79215|0.79215	0.4408|0.4408	M|M	0.86028|0.86028	2.79|2.79	0.54753|0.54753	D|D	0.999988|0.999988	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|T	0.82524|0.82524	-0.0414|-0.0414	10|6	0.87932|0.87932	D|D	0|0	-20.3738|-20.3738	15.3501|15.3501	0.74376|0.74376	0.0678:0.0:0.9322:0.0|0.0678:0.0:0.9322:0.0	.|.	90|.	Q6ZPD9|.	D19L3_HUMAN|.	Q|H	90|89	ENSP00000376081:E90Q;ENSP00000344937:E90Q|.	ENSP00000315672:E90Q|ENSP00000376079:Q89H	E|Q	+|+	1|3	0|2	DPY19L3|DPY19L3	37615492|37615492	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.651000|0.651000	0.38670|0.38670	7.925000|7.925000	0.87563|0.87563	2.779000|2.779000	0.95612|0.95612	0.591000|0.591000	0.81541|0.81541	GAG|CAG		0.408	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1	NM_207325		6	86	0	0	0	0	6	86				
ZFP30	22835	broad.mit.edu	37	19	38126325	38126325	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr19:38126325G>C	ENST00000351218.2	-	6	1674	c.1117C>G	c.(1117-1119)Cag>Gag	p.Q373E	ZFP30_ENST00000392144.1_Missense_Mutation_p.Q373E|ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000514101.2_Missense_Mutation_p.Q373E	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	373					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTATTCTCTGATGGAGAGTT	0.408																																						uc002ogv.1		NA																	0					0						c.(1117-1119)CAG>GAG		zinc finger protein 30 homolog							69.0	71.0	71.0					19																	38126325		2203	4300	6503	SO:0001583	missense	22835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38126325G>C	AB023178	CCDS33005.1	19q13.13	2013-01-08	2012-11-27		ENSG00000120784	ENSG00000120784		"""Zinc fingers, C2H2-type"", ""-"""	29555	protein-coding gene	gene with protein product			"""zinc finger protein 30 homolog (mouse)"""			10231032	Standard	NM_014898		Approved	ZNF745, KIAA0961	uc002ogx.1	Q9Y2G7	OTTHUMG00000048177	ENST00000351218.2:c.1117C>G	19.37:g.38126325G>C	ENSP00000343581:p.Gln373Glu					ZFP30_uc002ogw.1_Missense_Mutation_p.Q373E|ZFP30_uc002ogx.1_Missense_Mutation_p.Q373E|ZFP30_uc010xtt.1_Missense_Mutation_p.Q372E	p.Q373E	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	1633	-			373			C2H2-type 8.		Q58EY8	Missense_Mutation	SNP	ENST00000351218.2	37	c.1117C>G	CCDS33005.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.784096	0.31593	.	.	ENSG00000120784	ENST00000351218;ENST00000514101;ENST00000392144;ENST00000440715	T;T;T	0.17854	2.25;2.25;2.25	3.9	3.9	0.45041	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.247697	0.21206	N	0.078383	T	0.12944	0.0314	L	0.31926	0.97	0.28421	N	0.917749	B;B	0.25719	0.132;0.132	B;B	0.24541	0.054;0.054	T	0.08126	-1.0737	10	0.54805	T	0.06	.	9.0656	0.36460	0.106:0.0:0.894:0.0	.	373;373	D3Y2A0;Q9Y2G7	.;ZFP30_HUMAN	E	373;373;373;288	ENSP00000343581:Q373E;ENSP00000422930:Q373E;ENSP00000375988:Q373E	ENSP00000343581:Q373E	Q	-	1	0	ZFP30	42818165	0.252000	0.23972	1.000000	0.80357	0.985000	0.73830	1.006000	0.29847	2.175000	0.68902	0.591000	0.81541	CAG		0.408	ZFP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109601.2	NM_014898		4	137	0	0	0	0	4	137				
ACTN4	81	broad.mit.edu	37	19	39200969	39200969	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr19:39200969C>G	ENST00000252699.2	+	8	882	c.806C>G	c.(805-807)tCa>tGa	p.S269*	ACTN4_ENST00000390009.3_Intron|ACTN4_ENST00000424234.2_Intron	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	269	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CATGCCTTTTCAGGAGCGCAG	0.607																																					Colon(168;199 1940 10254 46213 46384)	uc002oja.1		NA																	0					0						c.(805-807)TCA>TGA		actinin, alpha 4							167.0	141.0	149.0					19																	39200969		2203	4300	6503	SO:0001587	stop_gained	81				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity	g.chr19:39200969C>G	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"""EF-hand domain containing"""	166	protein-coding gene	gene with protein product		604638	"""focal segmental glomerulosclerosis 1"""	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.806C>G	19.37:g.39200969C>G	ENSP00000252699:p.Ser269*					ACTN4_uc010egc.1_Nonsense_Mutation_p.S269*	p.S269*	NM_004924	NP_004915	O43707	ACTN4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		8	865	+	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		269			Actin-binding.|CH 2.		A4K467|D6PXK4|O76048	Nonsense_Mutation	SNP	ENST00000252699.2	37	c.806C>G	CCDS12518.1	.	.	.	.	.	.	.	.	.	.	C	38	7.143049	0.98092	.	.	ENSG00000130402	ENST00000252699;ENST00000445727	.	.	.	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.7502	0.91810	0.0:1.0:0.0:0.0	.	.	.	.	X	269	.	ENSP00000252699:S269X	S	+	2	0	ACTN4	43892809	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.818000	0.86416	2.719000	0.93026	0.555000	0.69702	TCA		0.607	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1			4	218	0	0	0	0	4	218				
CACNG8	59283	broad.mit.edu	37	19	54466602	54466602	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr19:54466602G>A	ENST00000270458.2	+	1	309	c.206G>A	c.(205-207)gGg>gAg	p.G69E		NM_031895.5	NP_114101	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	69					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		CCCCACCGCGGGGGCGGCGGC	0.716																																						uc002qcs.1		NA																	0					0						c.(202-204)GGG>GAG		voltage-dependent calcium channel gamma-8							12.0	14.0	14.0					19																	54466602		2180	4266	6446	SO:0001583	missense	59283				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54466602G>A	AF288388	CCDS33104.1	19q13.4	2008-05-02			ENSG00000142408	ENSG00000142408		"""Calcium channel subunits"""	13628	protein-coding gene	gene with protein product		606900				11170751	Standard	NM_031895		Approved		uc002qcs.2	Q8WXS5	OTTHUMG00000064908	ENST00000270458.2:c.206G>A	19.37:g.54466602G>A	ENSP00000270458:p.Gly69Glu						p.G68E	NM_031895	NP_114101	Q8WXS5	CCG8_HUMAN		GBM - Glioblastoma multiforme(134;0.162)	1	309	+	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)		69					Q9BXT0|Q9BY23	Missense_Mutation	SNP	ENST00000270458.2	37	c.203G>A	CCDS33104.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.424785	0.25639	.	.	ENSG00000142408	ENST00000270458	T	0.41400	1.0	2.62	1.57	0.23409	.	.	.	.	.	T	0.22666	0.0547	N	0.14661	0.345	0.22940	N	0.998537	B	0.06786	0.001	B	0.12837	0.008	T	0.16719	-1.0393	8	0.45353	T	0.12	-1.8535	4.6987	0.12816	0.1821:0.0:0.8179:0.0	.	69	Q8WXS5	CCG8_HUMAN	E	69	ENSP00000270458:G69E	ENSP00000270458:G69E	G	+	2	0	CACNG8	59158414	1.000000	0.71417	0.601000	0.28877	0.422000	0.31414	2.668000	0.46816	1.469000	0.48083	0.297000	0.19635	GGG		0.716	CACNG8-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139361.3			3	14	0	0	0	0	3	14				
LILRA2	11027	broad.mit.edu	37	19	55085362	55085362	+	Missense_Mutation	SNP	C	C	T	rs145704089	byFrequency	TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr19:55085362C>T	ENST00000251377.3	+	2	150	c.17C>T	c.(16-18)aCg>aTg	p.T6M	LILRA2_ENST00000251376.3_Missense_Mutation_p.T6M|LILRA2_ENST00000495786.1_Intron|LILRB1_ENST00000396321.2_Missense_Mutation_p.T6M|LILRA2_ENST00000391738.3_Missense_Mutation_p.T6M|LILRB1_ENST00000448689.1_Missense_Mutation_p.T6M|LILRB1_ENST00000418536.2_Missense_Mutation_p.T6M|LILRA2_ENST00000391737.1_Missense_Mutation_p.T6M			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	6					defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCCATCCTCACGGTCCTGATC	0.602													c|||	2	0.000399361	0.0	0.0	5008	,	,		18820	0.001		0.001	False		,,,				2504	0.0					uc002qgg.3		NA																	0				ovary(1)	1						c.(16-18)ACG>ATG		leukocyte immunoglobulin-like receptor,		C	MET/THR,MET/THR	3,4403	6.2+/-15.9	0,3,2200	139.0	116.0	124.0		17,17	0.1	0.0	19	dbSNP_134	124	6,8594	5.0+/-18.6	0,6,4294	no	missense,missense	LILRA2	NM_001130917.1,NM_006866.2	81,81	0,9,6494	TT,TC,CC		0.0698,0.0681,0.0692	,	6/484,6/467	55085362	9,12997	2203	4300	6503	SO:0001583	missense	11027				defense response	integral to membrane	antigen binding|receptor activity	g.chr19:55085362C>T	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.17C>T	19.37:g.55085362C>T	ENSP00000251377:p.Thr6Met					LILRA2_uc010ern.2_Missense_Mutation_p.T6M|LILRA2_uc002qgf.2_Missense_Mutation_p.T6M|LILRA2_uc010yfe.1_Missense_Mutation_p.T6M|LILRA2_uc010yff.1_Missense_Mutation_p.T6M|LILRA2_uc010ero.2_Missense_Mutation_p.T6M|LILRA2_uc010yfg.1_Missense_Mutation_p.T6M	p.T6M	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN		GBM - Glioblastoma multiforme(193;0.0963)	1	106	+			6					O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.17C>T	CCDS46179.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	4.448	0.082908	0.08533	6.81E-4	6.98E-4	ENSG00000239998;ENSG00000239998;ENSG00000239998;ENSG00000239998;ENSG00000239998;ENSG00000104972;ENSG00000104972;ENSG00000104972	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737;ENST00000396321;ENST00000418536;ENST00000448689	T;T;T;T;T;T;T;T	0.00524	6.99;6.88;6.88;6.82;6.85;6.97;6.97;6.84	2.69	0.13	0.14746	.	1.627630	0.03783	N	0.261658	T	0.00524	0.0017	L	0.47016	1.485	0.09310	N	1	B;B;B;B;B	0.26195	0.144;0.057;0.072;0.036;0.029	B;B;B;B;B	0.31191	0.125;0.04;0.011;0.011;0.024	T	0.47302	-0.9128	10	0.28530	T	0.3	.	5.0209	0.14361	0.0:0.6733:0.0:0.3267	.	6;6;6;6;6	Q99702;E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;.;LIRA2_HUMAN;.	M	6	ENSP00000388131:T6M;ENSP00000251377:T6M;ENSP00000375618:T6M;ENSP00000251376:T6M;ENSP00000375617:T6M;ENSP00000379614:T6M;ENSP00000391514:T6M;ENSP00000409968:T6M	ENSP00000251376:T6M	T	+	2	0	LILRB1;LILRA2	59777174	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-3.303000	0.00519	0.003000	0.14656	0.508000	0.49915	ACG		0.602	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			13	159	0	0	0	0	13	159				
SULT6B1	391365	broad.mit.edu	37	2	37410658	37410658	+	Splice_Site	SNP	C	C	G			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr2:37410658C>G	ENST00000535679.1	-	3	312		c.e3-1		SULT6B1_ENST00000379149.2_Intron|SULT6B1_ENST00000260637.3_Splice_Site|SULT6B1_ENST00000407963.1_Splice_Site			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1							cytoplasm (GO:0005737)	sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				CTTTCATTCTCTTAAAAATAT	0.408																																						uc002rpu.2		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.e3-1		sulfotransferase family, cytosolic, 6B, member							105.0	102.0	103.0					2																	37410658		2203	4300	6503	SO:0001630	splice_region_variant	391365					cytoplasm	sulfotransferase activity	g.chr2:37410658C>G	AY289770, AY289774	CCDS33182.1	2p22.2	2007-07-26			ENSG00000138068	ENSG00000138068		"""Sulfotransferases, cytosolic"""	33433	protein-coding gene	gene with protein product						14676822	Standard	XM_005264307		Approved		uc002rpu.3	Q6IMI4	OTTHUMG00000152160	ENST00000535679.1:c.313-1G>C	2.37:g.37410658C>G						SULT6B1_uc010yni.1_Splice_Site	p.R67_splice	NM_001032377	NP_001027549	Q6IMI4	ST6B1_HUMAN			3	220	-		all_hematologic(82;0.248)						B2RTS7	Splice_Site	SNP	ENST00000535679.1	37	c.199_splice		.	.	.	.	.	.	.	.	.	.	C	17.38	3.376266	0.61735	.	.	ENSG00000138068	ENST00000535679;ENST00000260637;ENST00000407963	.	.	.	4.73	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6391	0.85068	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SULT6B1	37264162	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	3.502000	0.53332	2.441000	0.82636	0.585000	0.79938	.		0.408	SULT6B1-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001032377	Intron	3	105	0	0	0	0	3	105				
IMMT	10989	broad.mit.edu	37	2	86374882	86374882	+	Silent	SNP	A	A	G			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr2:86374882A>G	ENST00000410111.3	-	13	1863	c.1476T>C	c.(1474-1476)gaT>gaC	p.D492D	IMMT_ENST00000449247.2_Silent_p.D481D|IMMT_ENST00000409051.2_Silent_p.D445D|IMMT_ENST00000254636.5_Silent_p.D393D|IMMT_ENST00000442664.2_Silent_p.D491D	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	492					mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTCGCAAGTGATCAGTGTGGG	0.478																																						uc002sqz.3		NA																	0				skin(1)	1						c.(1474-1476)GAT>GAC		inner membrane protein, mitochondrial isoform 1							123.0	123.0	123.0					2																	86374882		1998	4164	6162	SO:0001819	synonymous_variant	10989					integral to mitochondrial inner membrane	protein binding	g.chr2:86374882A>G	D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"""mitofilin"", ""mitochondrial inner membrane organizing system 2"""	600378	"""inner membrane protein, mitochondrial (mitofilin)"""			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.1476T>C	2.37:g.86374882A>G						IMMT_uc002sqy.3_Silent_p.D233D|IMMT_uc002srb.3_Silent_p.D481D|IMMT_uc002sra.3_Silent_p.D491D|IMMT_uc010ytd.1_Silent_p.D480D|IMMT_uc010yte.1_Silent_p.D445D|IMMT_uc002src.1_Silent_p.D228D	p.D492D	NM_006839	NP_006830	Q16891	IMMT_HUMAN			13	1864	-			492			Mitochondrial intermembrane (Potential).		B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Silent	SNP	ENST00000410111.3	37	c.1476T>C	CCDS46355.1	.	.	.	.	.	.	.	.	.	.	A	10.34	1.323585	0.24080	.	.	ENSG00000132305	ENST00000419070	.	.	.	6.17	0.674	0.17946	.	.	.	.	.	T	0.60894	0.2304	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57590	-0.7785	4	.	.	.	-22.2526	12.1402	0.53994	0.6887:0.0:0.3113:0.0	.	.	.	.	P	347	.	.	S	-	1	0	IMMT	86228393	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.265000	0.33027	0.192000	0.20272	0.533000	0.62120	TCA		0.478	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839		8	128	0	0	0	0	8	128				
TTN	7273	broad.mit.edu	37	2	179436108	179436108	+	Silent	SNP	G	G	C			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr2:179436108G>C	ENST00000591111.1	-	276	70052	c.69828C>G	c.(69826-69828)gtC>gtG	p.V23276V	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Silent_p.V24917V|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Silent_p.V15977V|TTN_ENST00000460472.2_Silent_p.V15852V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.V16044V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.V22349V|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23276	Fibronectin type-III 69. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGACAGTGTGACAACTGGAG	0.468																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(67045-67047)GTC>GTG		titin isoform N2-A							113.0	106.0	108.0					2																	179436108		1945	4160	6105	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179436108G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.69828C>G	2.37:g.179436108G>C						uc002umo.2_Intron|uc002ump.1_RNA|TTN_uc010zfh.1_Silent_p.V16044V|TTN_uc010zfi.1_Silent_p.V15977V|TTN_uc010zfj.1_Silent_p.V15852V	p.V22349V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	67271	-			23276					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.67047C>G																																																																																					0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	157	0	0	0	0	6	157				
VIL1	7429	broad.mit.edu	37	2	219313973	219313973	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr2:219313973C>G	ENST00000248444.5	+	20	2486	c.2398C>G	c.(2398-2400)Cag>Gag	p.Q800E	VIL1_ENST00000392114.2_Missense_Mutation_p.Q489E	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	800	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.|Headpiece.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGATTTCACTCAGGCCTTTGG	0.493																																						uc002via.2		NA																	0				ovary(1)	1						c.(2398-2400)CAG>GAG		villin 1							238.0	237.0	237.0					2																	219313973		2203	4300	6503	SO:0001583	missense	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219313973C>G	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.2398C>G	2.37:g.219313973C>G	ENSP00000248444:p.Gln800Glu					VIL1_uc010zke.1_Missense_Mutation_p.Q489E|VIL1_uc002vib.2_Missense_Mutation_p.Q800E	p.Q800E	NM_007127	NP_009058	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	20	2463	+		Renal(207;0.0474)	800			Headpiece.|HP.		B2R9A7|Q53S11|Q96AC8	Missense_Mutation	SNP	ENST00000248444.5	37	c.2398C>G	CCDS2417.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.603706	0.00849	.	.	ENSG00000127831	ENST00000248444;ENST00000392114	T;T	0.11712	2.77;2.75	4.64	-2.27	0.06846	Villin headpiece (5);	1.311660	0.05230	N	0.510171	T	0.03095	0.0091	N	0.01473	-0.845	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.40590	-0.9555	10	0.17832	T	0.49	-5.4583	2.6222	0.04919	0.296:0.3475:0.257:0.0995	.	800	P09327	VILI_HUMAN	E	800;489	ENSP00000248444:Q800E;ENSP00000375962:Q489E	ENSP00000248444:Q800E	Q	+	1	0	VIL1	219022217	0.000000	0.05858	0.118000	0.21660	0.676000	0.39594	0.774000	0.26675	-0.224000	0.09928	-0.521000	0.04368	CAG		0.493	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		6	353	0	0	0	0	6	353				
UGT1A1	54658	broad.mit.edu	37	2	234527158	234527158	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr2:234527158A>G	ENST00000373450.4	+	1	868	c.805A>G	c.(805-807)Atg>Gtg	p.M269V		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	272					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	GATGCCCAATATGATCTTCAT	0.433																																						uc002vup.2		NA																	0				ovary(2)	2						c.(805-807)ATG>GTG		UDP glycosyltransferase 1 family, polypeptide A8							215.0	210.0	211.0					2																	234527158		2203	4300	6503	SO:0001583	missense	54576				drug metabolic process|fatty acid metabolic process|flavone metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme inhibitor activity|fatty acid binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|steroid binding	g.chr2:234527158A>G	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.805A>G	2.37:g.234527158A>G	ENSP00000362549:p.Met269Val					UGT1A8_uc010zmv.1_Missense_Mutation_p.M269V	p.M269V	NM_019076	NP_061949	Q9HAW9	UD18_HUMAN		Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	868	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	269					A6NJC3|B8K286	Missense_Mutation	SNP	ENST00000373450.4	37	c.805A>G	CCDS33402.1	.	.	.	.	.	.	.	.	.	.	A	2.868	-0.234668	0.05983	.	.	ENSG00000242366	ENST00000373450	T	0.56776	0.44	3.96	2.79	0.32731	.	.	.	.	.	T	0.37945	0.1022	L	0.35487	1.065	0.25876	N	0.983641	B;B	0.14438	0.01;0.01	B;B	0.22880	0.042;0.042	T	0.27191	-1.0081	9	0.10636	T	0.68	.	9.4344	0.38630	0.9137:0.0:0.0863:0.0	.	269;269	Q5DSZ6;Q9HAW9	.;UD18_HUMAN	V	269	ENSP00000362549:M269V	ENSP00000362549:M269V	M	+	1	0	UGT1A8	234191897	0.988000	0.35896	1.000000	0.80357	0.455000	0.32408	1.905000	0.39878	0.698000	0.31739	0.414000	0.27820	ATG		0.433	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130994.1			33	408	0	0	0	0	33	408				
NEURL2	140825	broad.mit.edu	37	20	44519216	44519216	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr20:44519216G>C	ENST00000372518.4	-	1	710	c.415C>G	c.(415-417)Cca>Gca	p.P139A	RP3-337O18.9_ENST00000607703.1_RNA|SPATA25_ENST00000372519.3_5'Flank|CTSA_ENST00000354880.5_5'Flank|CTSA_ENST00000191018.5_5'Flank|CTSA_ENST00000372484.3_5'Flank|CTSA_ENST00000372459.2_5'Flank	NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2	139	NHR. {ECO:0000255|PROSITE- ProRule:PRU00400}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|sarcomere organization (GO:0045214)	muscle tendon junction (GO:0005927)|VCB complex (GO:0030891)				large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				AGGAGGGTTGGAGGTCGGCTG	0.697																																						uc002xqg.1		NA																	0					0						c.(415-417)CCA>GCA		neuralized-like protein 2							19.0	26.0	24.0					20																	44519216		2195	4291	6486	SO:0001583	missense	140825				intracellular signal transduction			g.chr20:44519216G>C	AL008726	CCDS13384.1	20q13.12	2013-10-24	2013-10-24	2004-02-27	ENSG00000124257	ENSG00000124257			16156	protein-coding gene	gene with protein product		608597	"""chromosome 20 open reading frame 163"", ""neuralized-like 2 (Drosophila)"", ""neuralized homolog 2 (Drosophila)"""	C20orf163		12076535, 19723503	Standard	NM_001278535		Approved	dJ337O18.6, FLJ30259, Ozz, Ozz-E3	uc002xqg.2	Q9BR09	OTTHUMG00000032626	ENST00000372518.4:c.415C>G	20.37:g.44519216G>C	ENSP00000361596:p.Pro139Ala					C20orf165_uc002xqf.2_5'Flank|CTSA_uc002xqh.2_5'Flank|CTSA_uc002xqj.3_5'Flank|CTSA_uc002xqi.2_5'Flank|CTSA_uc010zxi.1_5'Flank|CTSA_uc002xqk.3_5'Flank	p.P139A	NM_080749	NP_542787	Q9BR09	NEUL2_HUMAN			1	686	-		Myeloproliferative disorder(115;0.0122)	139			NHR.		Q3KR34	Missense_Mutation	SNP	ENST00000372518.4	37	c.415C>G	CCDS13384.1	.	.	.	.	.	.	.	.	.	.	G	6.870	0.529883	0.13127	.	.	ENSG00000124257	ENST00000372518	T	0.40756	1.02	4.83	2.84	0.33178	NEUZ (1);	0.302405	0.36703	N	0.002445	T	0.24275	0.0588	L	0.29908	0.895	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.12142	-1.0559	9	.	.	.	-4.7585	3.6301	0.08128	0.091:0.1652:0.5734:0.1704	.	139	Q9BR09	NEUL2_HUMAN	A	139	ENSP00000361596:P139A	.	P	-	1	0	NEURL2	43952623	0.998000	0.40836	0.185000	0.23176	0.327000	0.28475	1.874000	0.39568	0.612000	0.30071	0.561000	0.74099	CCA		0.697	NEURL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079539.2			6	54	0	0	0	0	6	54				
DHX30	22907	broad.mit.edu	37	3	47882464	47882464	+	Missense_Mutation	SNP	G	G	A	rs139889547		TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr3:47882464G>A	ENST00000445061.1	+	7	871	c.464G>A	c.(463-465)cGt>cAt	p.R155H	DHX30_ENST00000348968.4_Missense_Mutation_p.R127H|DHX30_ENST00000457607.1_Missense_Mutation_p.R183H|DHX30_ENST00000446256.2_Missense_Mutation_p.R116H	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	155						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AGCTGGTGGCGTCCGGAACCC	0.617																																						uc003cru.2		NA																	0				ovary(2)|skin(2)	4						c.(463-465)CGT>CAT		DEAH (Asp-Glu-Ala-His) box polypeptide 30		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	45.0	42.0	43.0		347,464	4.0	1.0	3	dbSNP_134	43	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	DHX30	NM_014966.3,NM_138615.2	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	116/1156,155/1195	47882464	1,13005	2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47882464G>A	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.464G>A	3.37:g.47882464G>A	ENSP00000405620:p.Arg155His					DHX30_uc003crs.2_Missense_Mutation_p.R116H|DHX30_uc003crt.2_Missense_Mutation_p.R116H|DHX30_uc010hjr.1_Missense_Mutation_p.R183H	p.R155H	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	7	890	+			155					A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.464G>A	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918320	0.73098	0.0	1.16E-4	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03468	3.95;3.94;3.95;3.92	4.89	4.01	0.46588	.	0.127002	0.36628	N	0.002500	T	0.05273	0.0140	L	0.40543	1.245	0.45515	D	0.998477	P;P;P	0.51449	0.842;0.902;0.945	B;B;P	0.46172	0.232;0.409;0.506	T	0.32745	-0.9895	10	0.62326	D	0.03	.	9.9695	0.41745	0.0933:0.0:0.9067:0.0	.	155;116;183	Q7L2E3;Q7L2E3-3;Q7L2E3-2	DHX30_HUMAN;.;.	H	116;155;127;183	ENSP00000392601:R116H;ENSP00000405620:R155H;ENSP00000343442:R127H;ENSP00000394682:R183H	ENSP00000343442:R127H	R	+	2	0	DHX30	47857468	1.000000	0.71417	0.998000	0.56505	0.794000	0.44872	4.276000	0.58933	2.244000	0.73946	0.655000	0.94253	CGT		0.617	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		7	53	0	0	0	0	7	53				
NISCH	11188	broad.mit.edu	37	3	52505975	52505975	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr3:52505975T>G	ENST00000479054.1	+	6	627	c.555T>G	c.(553-555)tgT>tgG	p.C185W	NISCH_ENST00000345716.4_Missense_Mutation_p.C185W|NISCH_ENST00000488380.1_Missense_Mutation_p.C185W|NISCH_ENST00000420808.2_Missense_Mutation_p.C185W			Q9Y2I1	NISCH_HUMAN	nischarin	185	Necessary for homooligomerization and targeting to endosomes.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	ACTTCACCTGTCGCCTTAAGT	0.617											OREG0015615	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc011beg.1		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(553-555)TGT>TGG		nischarin							56.0	56.0	56.0					3																	52505975		2203	4300	6503	SO:0001583	missense	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52505975T>G	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.555T>G	3.37:g.52505975T>G	ENSP00000418232:p.Cys185Trp		OREG0015615	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	985	NISCH_uc003ded.3_Missense_Mutation_p.C185W|NISCH_uc003dec.1_Missense_Mutation_p.C185W	p.C185W	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	6	627	+			185			Necessary for homooligomerization and targeting to endosomes.		C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	c.555T>G	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	T	19.71	3.877821	0.72294	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000488380;ENST00000420808	T;T;T;T	0.08370	3.1;3.1;3.26;3.2	5.58	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.23330	0.0564	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.962	T	0.00377	-1.1778	10	0.42905	T	0.14	-7.5298	9.6244	0.39741	0.0:0.0788:0.0:0.9212	.	185;185	Q9Y2I1;C9J715	NISCH_HUMAN;.	W	185	ENSP00000418232:C185W;ENSP00000339958:C185W;ENSP00000417812:C185W;ENSP00000392484:C185W	ENSP00000339958:C185W	C	+	3	2	NISCH	52481015	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.228000	0.51270	2.119000	0.64992	0.459000	0.35465	TGT		0.617	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		5	64	0	0	0	0	5	64				
FXR1	8087	broad.mit.edu	37	3	180666565	180666565	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr3:180666565T>A	ENST00000357559.4	+	6	860	c.476T>A	c.(475-477)aTt>aAt	p.I159N	FXR1_ENST00000445140.2_Missense_Mutation_p.I159N|FXR1_ENST00000305586.7_Missense_Mutation_p.I74N|FXR1_ENST00000491062.1_Missense_Mutation_p.I110N|FXR1_ENST00000480918.1_Missense_Mutation_p.I146N|FXR1_ENST00000468861.1_Missense_Mutation_p.I74N	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	159					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			GCATGCAGAATTTTTTACCAT	0.303																																						uc003fkq.2		NA																	0				breast(1)	1						c.(475-477)ATT>AAT		fragile X mental retardation-related protein 1							98.0	104.0	102.0					3																	180666565		2202	4298	6500	SO:0001583	missense	8087				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		g.chr3:180666565T>A	M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.476T>A	3.37:g.180666565T>A	ENSP00000350170:p.Ile159Asn					FXR1_uc003fkp.2_Missense_Mutation_p.I74N|FXR1_uc003fkr.2_Missense_Mutation_p.I159N|FXR1_uc011bqj.1_Missense_Mutation_p.I73N|FXR1_uc003fks.2_Missense_Mutation_p.I73N|FXR1_uc011bqk.1_Missense_Mutation_p.I110N|FXR1_uc011bql.1_Missense_Mutation_p.I146N	p.I159N	NM_005087	NP_005078	P51114	FXR1_HUMAN	Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)		6	498	+	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		159					A8K9B8|Q7Z450|Q8N6R8	Missense_Mutation	SNP	ENST00000357559.4	37	c.476T>A	CCDS3238.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.751100	0.89753	.	.	ENSG00000114416	ENST00000469882;ENST00000484790;ENST00000465551;ENST00000357559;ENST00000305586;ENST00000491062;ENST00000468861;ENST00000445140;ENST00000484958;ENST00000480918	T;T;T;T;T;T;T;T;T;T	0.54279	0.71;0.58;0.66;1.74;1.53;1.05;1.06;1.07;0.73;1.55	5.8	5.8	0.92144	.	0.101892	0.64402	D	0.000003	T	0.65626	0.2709	L	0.54323	1.7	0.58432	D	0.999993	D;P;P;D;P;P	0.55385	0.971;0.94;0.897;0.971;0.864;0.826	P;P;P;P;P;B	0.59171	0.624;0.853;0.583;0.629;0.667;0.261	T	0.68503	-0.5391	10	0.87932	D	0	3.0E-4	16.1416	0.81528	0.0:0.0:0.0:1.0	.	146;110;74;74;159;159	B4DXZ6;E9PFF5;E7EU85;E7ERF5;P51114-2;P51114	.;.;.;.;.;FXR1_HUMAN	N	74;74;74;159;74;110;74;159;74;146	ENSP00000419793:I74N;ENSP00000417125:I74N;ENSP00000418724:I74N;ENSP00000350170:I159N;ENSP00000307633:I74N;ENSP00000420643:I110N;ENSP00000420515:I74N;ENSP00000388828:I159N;ENSP00000419933:I74N;ENSP00000418097:I146N	ENSP00000307633:I74N	I	+	2	0	FXR1	182149259	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.209000	0.71365	0.482000	0.46254	ATT		0.303	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5			6	169	0	0	0	0	6	169				
CPLX1	10815	broad.mit.edu	37	4	786392	786392	+	Silent	SNP	G	G	A			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr4:786392G>A	ENST00000304062.6	-	3	267	c.36C>T	c.(34-36)gcC>gcT	p.A12A	CPLX1_ENST00000505203.1_Silent_p.A12A	NM_006651.3	NP_006642.1	O14810	CPLX1_HUMAN	complexin 1	12					exocytosis (GO:0006887)|glutamate secretion (GO:0014047)|insulin secretion (GO:0030073)|neurotransmitter secretion (GO:0007269)|regulation of exocytosis (GO:0017157)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|synapse (GO:0045202)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex (GO:0070554)	neurotransmitter transporter activity (GO:0005326)			kidney(1)|lung(2)	3				Colorectal(103;0.187)		TGTCCTTGGTGGCCCCTGGTA	0.662																																						uc003gbi.2		NA																	0					0						c.(34-36)GCC>GCT		complexin 1							62.0	67.0	65.0					4																	786392		2190	4284	6474	SO:0001819	synonymous_variant	10815				glutamate secretion	cytosol		g.chr4:786392G>A	AF022383	CCDS46995.1	4p16.3	2008-08-07			ENSG00000168993	ENSG00000168993			2309	protein-coding gene	gene with protein product		605032				7553862	Standard	NM_006651		Approved	CPX-I	uc003gbi.3	O14810	OTTHUMG00000160005	ENST00000304062.6:c.36C>T	4.37:g.786392G>A						CPLX1_uc003gbj.2_Silent_p.A12A	p.A12A	NM_006651	NP_006642	O14810	CPLX1_HUMAN		Colorectal(103;0.187)	3	227	-			12					A6NI80|B2R4R5|D3DVN3|F1T0G1	Silent	SNP	ENST00000304062.6	37	c.36C>T	CCDS46995.1																																																																																				0.662	CPLX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358830.1			11	93	0	0	0	0	11	93				
TBC1D1	23216	broad.mit.edu	37	4	38138875	38138875	+	Silent	SNP	G	G	A	rs375379532		TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr4:38138875G>A	ENST00000261439.4	+	20	3781	c.3426G>A	c.(3424-3426)acG>acA	p.T1142T	TBC1D1_ENST00000508802.1_Silent_p.T1133T|TBC1D1_ENST00000407365.1_3'UTR	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	1142					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TGCTGCAGACGGTGGAGGAGC	0.642													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15446	0.0		0.0	False		,,,				2504	0.0					uc003gtb.2		NA																	0				ovary(1)	1						c.(3424-3426)ACG>ACA		TBC1 (tre-2/USP6, BUB2, cdc16) domain family,		G		1,4403	2.1+/-5.4	0,1,2201	31.0	36.0	34.0		3426	-2.6	0.0	4		34	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TBC1D1	NM_015173.2		0,2,6500	AA,AG,GG		0.0116,0.0227,0.0154		1142/1169	38138875	2,13002	2202	4300	6502	SO:0001819	synonymous_variant	23216					nucleus	Rab GTPase activator activity	g.chr4:38138875G>A	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.3426G>A	4.37:g.38138875G>A						TBC1D1_uc011byd.1_Silent_p.T1133T|TBC1D1_uc010ifd.2_Silent_p.T929T|TBC1D1_uc003gtd.2_Silent_p.T154T	p.T1142T	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN			20	3769	+			1142					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Silent	SNP	ENST00000261439.4	37	c.3426G>A	CCDS33972.1	.	.	.	.	.	.	.	.	.	.	G	0.992	-0.693597	0.03303	2.27E-4	1.16E-4	ENSG00000065882	ENST00000510573	.	.	.	5.16	-2.62	0.06152	.	.	.	.	.	T	0.20577	0.0495	.	.	.	0.26265	N	0.978517	.	.	.	.	.	.	T	0.28332	-1.0047	4	.	.	.	-0.0394	3.4262	0.07412	0.2121:0.4531:0.1507:0.1841	.	.	.	.	S	830	.	.	G	+	1	0	TBC1D1	37815270	0.566000	0.26618	0.002000	0.10522	0.122000	0.20287	0.029000	0.13666	-0.434000	0.07275	-0.156000	0.13503	GGT		0.642	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		7	60	0	0	0	0	7	60				
SHROOM3	57619	broad.mit.edu	37	4	77692006	77692006	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr4:77692006G>C	ENST00000296043.6	+	10	6530	c.5577G>C	c.(5575-5577)gaG>gaC	p.E1859D	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1859	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				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)			CCCGTGTTGAGAATGTCCTTA	0.502																																						uc011cbx.1		NA																	0				skin(2)|ovary(1)	3						c.(5575-5577)GAG>GAC		shroom family member 3 protein							125.0	124.0	125.0					4																	77692006		2203	4300	6503	SO:0001583	missense	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.chr4:77692006G>C	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.5577G>C	4.37:g.77692006G>C	ENSP00000296043:p.Glu1859Asp					SHROOM3_uc003hkg.2_Missense_Mutation_p.E1637D	p.E1859D	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		10	6530	+			1859			ASD2.		Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.5577G>C	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828310	0.50845	.	.	ENSG00000138771	ENST00000296043	T	0.37752	1.18	5.53	3.6	0.41247	Apx/shroom, ASD2 (2);	0.000000	0.64402	D	0.000001	T	0.49779	0.1577	M	0.64170	1.965	0.47778	D	0.999518	D	0.62365	0.991	P	0.60541	0.876	T	0.52749	-0.8534	10	0.87932	D	0	-36.7659	9.5487	0.39297	0.2455:0.0:0.7545:0.0	.	1859	Q8TF72	SHRM3_HUMAN	D	1859	ENSP00000296043:E1859D	ENSP00000296043:E1859D	E	+	3	2	SHROOM3	77911030	1.000000	0.71417	1.000000	0.80357	0.368000	0.29767	1.118000	0.31246	1.507000	0.48752	0.650000	0.86243	GAG		0.502	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		6	157	0	0	0	0	6	157				
EGF	1950	broad.mit.edu	37	4	110834553	110834553	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr4:110834553C>T	ENST00000265171.5	+	1	507	c.62C>T	c.(61-63)tCa>tTa	p.S21L	EGF_ENST00000509793.1_Missense_Mutation_p.S21L|EGF_ENST00000503392.1_Missense_Mutation_p.S21L	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	21					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	GTTAGTCTCTCAGCACCGCAG	0.428																																						uc003hzy.3		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(61-63)TCA>TTA		epidermal growth factor precursor	Sulindac(DB00605)						98.0	91.0	93.0					4																	110834553		2203	4300	6503	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110834553C>T	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.62C>T	4.37:g.110834553C>T	ENSP00000265171:p.Ser21Leu					EGF_uc011cfu.1_Missense_Mutation_p.S21L|EGF_uc011cfv.1_Missense_Mutation_p.S21L	p.S21L	NM_001963	NP_001954	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	1	514	+		Hepatocellular(203;0.0893)	21					B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.62C>T	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.145546	0.37923	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.88818	-2.43;-2.37;-2.03	5.23	3.52	0.40303	.	0.659026	0.15053	N	0.283220	D	0.84701	0.5530	M	0.63428	1.95	0.09310	N	1	P;P;P	0.38078	0.483;0.617;0.483	B;B;B	0.34242	0.086;0.178;0.086	T	0.71038	-0.4708	10	0.21540	T	0.41	.	10.312	0.43714	0.0:0.8476:0.0:0.1524	.	21;21;21	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	L	21	ENSP00000424316:S21L;ENSP00000265171:S21L;ENSP00000421384:S21L	ENSP00000265171:S21L	S	+	2	0	EGF	111054002	0.943000	0.32029	0.003000	0.11579	0.003000	0.03518	1.671000	0.37513	0.717000	0.32145	-0.136000	0.14681	TCA		0.428	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			4	75	0	0	0	0	4	75				
ANK2	287	broad.mit.edu	37	4	114279449	114279449	+	Silent	SNP	C	C	T			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr4:114279449C>T	ENST00000357077.4	+	38	9728	c.9675C>T	c.(9673-9675)ctC>ctT	p.L3225L	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Silent_p.L3192L|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3225					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCAAGGACCTCCCCACCGTGC	0.478																																						uc003ibe.3		NA																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(9673-9675)CTC>CTT		ankyrin 2 isoform 1							81.0	77.0	78.0					4																	114279449		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114279449C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.9675C>T	4.37:g.114279449C>T						ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Silent_p.L527L|ANK2_uc011cgb.1_Silent_p.L3240L	p.L3225L	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	9775	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3192					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.9675C>T	CCDS3702.1																																																																																				0.478	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		10	106	0	0	0	0	10	106				
ANK2	287	broad.mit.edu	37	4	114279897	114279897	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr4:114279897C>G	ENST00000357077.4	+	38	10176	c.10123C>G	c.(10123-10125)Cag>Gag	p.Q3375E	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.Q3342E|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3375					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGTGGCTCCTCAGGGACAGGA	0.468																																						uc003ibe.3		NA																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(10123-10125)CAG>GAG		ankyrin 2 isoform 1							102.0	103.0	103.0					4																	114279897		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114279897C>G	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.10123C>G	4.37:g.114279897C>G	ENSP00000349588:p.Gln3375Glu					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.Q677E|ANK2_uc011cgb.1_Missense_Mutation_p.Q3390E	p.Q3375E	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	10223	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3342					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.10123C>G	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	7.084	0.570849	0.13623	.	.	ENSG00000145362	ENST00000357077;ENST00000264366;ENST00000505342	T;T;D	0.95885	-0.19;-0.2;-3.84	5.49	4.64	0.57946	.	0.314525	0.23347	N	0.049168	D	0.92786	0.7706	L	0.60455	1.87	0.80722	D	1	B;B	0.33171	0.278;0.4	B;B	0.30855	0.057;0.121	D	0.90351	0.4366	10	0.30078	T	0.28	.	12.0238	0.53358	0.3848:0.6152:0.0:0.0	.	3342;3375	Q01484;Q01484-4	ANK2_HUMAN;.	E	3375;3342;385	ENSP00000349588:Q3375E;ENSP00000264366:Q3342E;ENSP00000422498:Q385E	ENSP00000264366:Q3342E	Q	+	1	0	ANK2	114499346	1.000000	0.71417	0.975000	0.42487	0.797000	0.45037	2.465000	0.45075	1.288000	0.44600	0.650000	0.86243	CAG		0.468	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		9	103	0	0	0	0	9	103				
RICTOR	253260	broad.mit.edu	37	5	38944564	38944564	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr5:38944564C>A	ENST00000357387.3	-	36	4927	c.4897G>T	c.(4897-4899)Gag>Tag	p.E1633*	RICTOR_ENST00000296782.5_Nonsense_Mutation_p.E1657*	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2									p.E1633Q(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AGCCCAGTCTCATGACATTTA	0.323																																						uc003jlp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10						c.(4897-4899)GAG>TAG		rapamycin-insensitive companion of mTOR							117.0	115.0	116.0					5																	38944564		2203	4300	6503	SO:0001587	stop_gained	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38944564C>A		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.4897G>T	5.37:g.38944564C>A	ENSP00000349959:p.Glu1633*					RICTOR_uc003jlo.2_Nonsense_Mutation_p.E1657*|RICTOR_uc010ivf.2_Nonsense_Mutation_p.E1310*	p.E1633*	NM_152756	NP_689969	Q6R327	RICTR_HUMAN			36	4921	-	all_lung(31;0.000396)		1633						Nonsense_Mutation	SNP	ENST00000357387.3	37	c.4897G>T	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	C	44	11.020876	0.99504	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.5643	19.4767	0.94992	0.0:1.0:0.0:0.0	.	.	.	.	X	1633;1657	.	ENSP00000296782:E1657X	E	-	1	0	RICTOR	38980321	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.431000	0.66507	2.601000	0.87937	0.563000	0.77884	GAG		0.323	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		9	214	1	0	2.18e-05	2.58e-05	9	214				
SPZ1	84654	broad.mit.edu	37	5	79616171	79616171	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr5:79616171C>T	ENST00000296739.4	+	1	382	c.137C>T	c.(136-138)tCc>tTc	p.S46F		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	46					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TCCCCTTCCTCCTGGGGCTCT	0.403																																						uc003kgn.2		NA																	0				ovary(1)	1						c.(136-138)TCC>TTC		spermatogenic leucine zipper 1							148.0	145.0	146.0					5																	79616171		1880	4120	6000	SO:0001583	missense	84654				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr5:79616171C>T		CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 148"""					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.137C>T	5.37:g.79616171C>T	ENSP00000369611:p.Ser46Phe					uc011ctk.1_RNA	p.S46F	NM_032567	NP_115956	Q9BXG8	SPZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)	1	382	+		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)	46					B2RA21|Q8N4P1|Q8N7E9	Missense_Mutation	SNP	ENST00000296739.4	37	c.137C>T	CCDS43336.1	.	.	.	.	.	.	.	.	.	.	C	5.376	0.254589	0.10185	.	.	ENSG00000164299	ENST00000511881;ENST00000296739	T;T	0.40476	1.03;1.62	4.33	0.117	0.14652	.	1.083920	0.07112	N	0.842388	T	0.17238	0.0414	N	0.04132	-0.27	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.19128	-1.0315	10	0.29301	T	0.29	-1.3699	0.7183	0.00936	0.1511:0.2507:0.2826:0.3156	.	46	Q9BXG8	SPZ1_HUMAN	F	46	ENSP00000426530:S46F;ENSP00000369611:S46F	ENSP00000369611:S46F	S	+	2	0	SPZ1	79651927	0.000000	0.05858	0.000000	0.03702	0.481000	0.33189	-0.156000	0.10100	-0.003000	0.14444	-0.244000	0.11960	TCC		0.403	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1	NM_032567		7	225	0	0	0	0	7	225				
PITX1	5307	broad.mit.edu	37	5	134364577	134364577	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr5:134364577G>C	ENST00000265340.7	-	3	1253	c.837C>G	c.(835-837)aaC>aaG	p.N279K	PITX1_ENST00000506438.1_Missense_Mutation_p.N279K	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	279	Interacts with PIT-1. {ECO:0000250}.				anatomical structure morphogenesis (GO:0009653)|branchiomeric skeletal muscle development (GO:0014707)|cartilage development (GO:0051216)|embryonic hindlimb morphogenesis (GO:0035116)|myoblast fate commitment (GO:0048625)|pituitary gland development (GO:0021983)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)			central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		CTAGGCTCGAGTTGCACGTGT	0.677																																						uc010jea.2		NA																	0				ovary(1)	1						c.(835-837)AAC>AAG		paired-like homeodomain transcription factor 1							37.0	37.0	37.0					5																	134364577		2203	4300	6503	SO:0001583	missense	5307					nucleolus	sequence-specific DNA binding	g.chr5:134364577G>C	AF009648	CCDS4182.1	5q31.1	2011-06-20	2007-07-12		ENSG00000069011	ENSG00000069011		"""Homeoboxes / PRD class"""	9004	protein-coding gene	gene with protein product		602149	"""paired-like homeodomain transcription factor 1"""	BFT		9337397, 9070926	Standard	NM_002653		Approved	PTX1, POTX	uc010jea.3	P78337	OTTHUMG00000149983	ENST00000265340.7:c.837C>G	5.37:g.134364577G>C	ENSP00000265340:p.Asn279Lys					PITX1_uc011cxy.1_Missense_Mutation_p.N279K	p.N279K	NM_002653	NP_002644	P78337	PITX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)	3	1230	-			279			Interacts with PIT-1 (By similarity).		A8K3M0|D3DQB0|O14677|O60425|Q9BTI5	Missense_Mutation	SNP	ENST00000265340.7	37	c.837C>G	CCDS4182.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.356716	0.82243	.	.	ENSG00000069011	ENST00000265340;ENST00000506438	D;D	0.95137	-3.62;-3.62	4.32	3.45	0.39498	Paired-like homeodomain protein, OAR (1);	0.047019	0.85682	D	0.000000	D	0.96297	0.8792	M	0.69823	2.125	0.80722	D	1	D	0.62365	0.991	D	0.76575	0.988	D	0.95769	0.8807	10	0.72032	D	0.01	.	11.1996	0.48733	0.0912:0.0:0.9088:0.0	.	279	P78337	PITX1_HUMAN	K	279	ENSP00000265340:N279K;ENSP00000427542:N279K	ENSP00000265340:N279K	N	-	3	2	PITX1	134392476	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.762000	0.85270	0.811000	0.34303	-0.379000	0.06801	AAC		0.677	PITX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251195.3			3	27	0	0	0	0	3	27				
PCDHGB2	56103	broad.mit.edu	37	5	140740003	140740003	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr5:140740003C>G	ENST00000522605.1	+	1	301	c.301C>G	c.(301-303)Ctg>Gtg	p.L101V	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	101	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGCAGCCTCTGTGTGTTCT	0.418																																						uc003ljs.1		NA																	0					0						c.(301-303)CTG>GTG		protocadherin gamma subfamily B, 2 isoform 1							90.0	92.0	91.0					5																	140740003		1857	4102	5959	SO:0001583	missense	56103				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140740003C>G	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.301C>G	5.37:g.140740003C>G	ENSP00000429018:p.Leu101Val					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc011dar.1_Missense_Mutation_p.L101V	p.L101V	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	301	+			101			Extracellular (Potential).|Cadherin 1.		Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	c.301C>G	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	7.057	0.565681	0.13560	.	.	ENSG00000253910	ENST00000522605	T	0.27104	1.69	5.23	3.33	0.38152	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.12561	0.0305	N	0.11560	0.145	0.09310	N	1	B;B	0.14012	0.003;0.009	B;B	0.11329	0.006;0.006	T	0.12811	-1.0533	9	0.23891	T	0.37	.	7.3276	0.26563	0.2646:0.4832:0.2522:0.0	.	101;101	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	V	101	ENSP00000429018:L101V	ENSP00000429018:L101V	L	+	1	2	PCDHGB2	140720187	0.000000	0.05858	0.999000	0.59377	0.989000	0.77384	-0.277000	0.08502	2.583000	0.87209	0.563000	0.77884	CTG		0.418	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		9	140	0	0	0	0	9	140				
PCDHGA9	56107	broad.mit.edu	37	5	140784546	140784546	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr5:140784546G>A	ENST00000573521.1	+	1	2027	c.2027G>A	c.(2026-2028)gGc>gAc	p.G676D	PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	676	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGACCTGGGCAGTCTTCAG	0.592																																						uc003lkh.1		NA																	0					0						c.(2026-2028)GGC>GAC		protocadherin gamma subfamily A, 9 isoform 1							93.0	104.0	100.0					5																	140784546		2184	4295	6479	SO:0001583	missense	56107				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140784546G>A	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.2027G>A	5.37:g.140784546G>A	ENSP00000460274:p.Gly676Asp					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.G676D	p.G676D	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2027	+			676			Cadherin 6.|Extracellular (Potential).		A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	c.2027G>A	CCDS58981.1																																																																																				0.592	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		9	136	0	0	0	0	9	136				
KIFC1	3833	broad.mit.edu	37	6	33372879	33372879	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr6:33372879C>T	ENST00000428849.2	+	7	1457	c.1007C>T	c.(1006-1008)tCt>tTt	p.S336F		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	336	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						CTGTTTCCCTCTGGCCCTGGT	0.682																																						uc003oef.3		NA																	0					0						c.(1006-1008)TCT>TTT		kinesin family member C1							74.0	76.0	75.0					6																	33372879		2203	4299	6502	SO:0001583	missense	3833				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity	g.chr6:33372879C>T	D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"""Kinesins"""	6389	protein-coding gene	gene with protein product		603763	"""kinesin-like 2"""	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.1007C>T	6.37:g.33372879C>T	ENSP00000393963:p.Ser336Phe					KIFC1_uc011drf.1_Missense_Mutation_p.S328F	p.S336F	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN			7	1457	+			336			Kinesin-motor.		O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Missense_Mutation	SNP	ENST00000428849.2	37	c.1007C>T	CCDS34430.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.620769	0.46736	.	.	ENSG00000237649	ENST00000428849	T	0.43294	0.95	5.43	5.43	0.79202	Kinesin, motor domain (3);	0.798245	0.11245	N	0.584246	T	0.21962	0.0529	L	0.58354	1.805	0.35918	D	0.831581	P;P	0.41748	0.761;0.761	B;B	0.32864	0.154;0.154	T	0.07673	-1.0760	10	0.15499	T	0.54	-17.0304	14.6068	0.68486	0.0:1.0:0.0:0.0	.	328;336	B4E063;Q9BW19	.;KIFC1_HUMAN	F	336	ENSP00000393963:S336F	ENSP00000393963:S336F	S	+	2	0	KIFC1	33480857	0.006000	0.16342	0.780000	0.31762	0.994000	0.84299	0.736000	0.26130	2.824000	0.97209	0.655000	0.94253	TCT		0.682	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076417.1	NM_002263		5	187	0	0	0	0	5	187				
PHF3	23469	broad.mit.edu	37	6	64421505	64421505	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr6:64421505C>G	ENST00000262043.3	+	16	4361	c.4021C>G	c.(4021-4023)Cta>Gta	p.L1341V	PHF3_ENST00000393387.1_Missense_Mutation_p.L1341V			Q92576	PHF3_HUMAN	PHD finger protein 3	1341					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TAGACCTAATCTATTGTTGGG	0.373																																					GBM(135;136 1820 29512 34071 46235)	uc003pep.1		NA																	0				ovary(3)|lung(1)|skin(1)	5						c.(4021-4023)CTA>GTA		PHD finger protein 3							79.0	84.0	82.0					6																	64421505		2188	4287	6475	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64421505C>G	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.4021C>G	6.37:g.64421505C>G	ENSP00000262043:p.Leu1341Val					PHF3_uc003pen.2_Missense_Mutation_p.L1253V|PHF3_uc011dxs.1_Missense_Mutation_p.L610V	p.L1341V	NM_015153	NP_055968	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		15	4047	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1341					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.4021C>G	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.793663	0.31685	.	.	ENSG00000118482	ENST00000515594;ENST00000262043;ENST00000393387	T;T;T	0.55760	0.5;1.83;1.83	6.02	4.26	0.50523	.	0.275082	0.19501	N	0.112723	T	0.59032	0.2164	M	0.74881	2.28	0.45194	D	0.998202	D	0.61080	0.989	D	0.67382	0.951	T	0.63431	-0.6639	10	0.66056	D	0.02	-4.3572	9.233	0.37448	0.0:0.7354:0.0:0.2646	.	1341	Q92576	PHF3_HUMAN	V	610;1341;1341	ENSP00000425338:L610V;ENSP00000262043:L1341V;ENSP00000377048:L1341V	ENSP00000262043:L1341V	L	+	1	2	PHF3	64479464	1.000000	0.71417	0.997000	0.53966	0.842000	0.47809	2.453000	0.44970	0.906000	0.36621	0.650000	0.86243	CTA		0.373	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			13	197	0	0	0	0	13	197				
SASH1	23328	broad.mit.edu	37	6	148855896	148855896	+	Missense_Mutation	SNP	C	C	T	rs576767257		TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr6:148855896C>T	ENST00000367467.3	+	16	2429	c.1954C>T	c.(1954-1956)Ccc>Tcc	p.P652S		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	652	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GGAGCACATGCCCACTTTCCT	0.502													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22234	0.0		0.0	False		,,,				2504	0.0					uc003qme.1		NA																	0				central_nervous_system(1)	1						c.(1954-1956)CCC>TCC		SAM and SH3 domain containing 1							125.0	119.0	121.0					6																	148855896		2203	4300	6503	SO:0001583	missense	23328						protein binding	g.chr6:148855896C>T	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.1954C>T	6.37:g.148855896C>T	ENSP00000356437:p.Pro652Ser					SASH1_uc011eeb.1_Missense_Mutation_p.P413S|SASH1_uc003qmf.1_Missense_Mutation_p.P62S	p.P652S	NM_015278	NP_056093	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	16	2429	+		Ovarian(120;0.0169)	652			SAM 1.		Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.1954C>T	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378120	0.61735	.	.	ENSG00000111961	ENST00000367467;ENST00000535767;ENST00000537769	T	0.45668	0.89	5.15	4.28	0.50868	Src homology-3 domain (1);Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.047832	0.85682	N	0.000000	T	0.15998	0.0385	N	0.02120	-0.675	0.51012	D	0.999907	P;P	0.38455	0.632;0.632	P;P	0.54431	0.752;0.752	T	0.24083	-1.0170	10	0.10111	T	0.7	-18.6805	13.7338	0.62804	0.0:0.9259:0.0:0.0741	.	633;652	Q6P4R9;O94885	.;SASH1_HUMAN	S	652;413;62	ENSP00000356437:P652S	ENSP00000356437:P652S	P	+	1	0	SASH1	148897589	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.982000	0.63825	1.180000	0.42898	0.561000	0.74099	CCC		0.502	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		4	132	0	0	0	0	4	132				
RAET1G	353091	broad.mit.edu	37	6	150240360	150240360	+	Silent	SNP	G	G	C			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr6:150240360G>C	ENST00000367360.2	-	3	517	c.450C>G	c.(448-450)ctC>ctG	p.L150L	RAET1E-AS1_ENST00000605899.1_RNA|RAET1G_ENST00000479265.1_Silent_p.L150L|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E-AS1_ENST00000446954.2_RNA	NM_001001788.2	NP_001001788.2			retinoic acid early transcript 1G											NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		CTGAGTCAAAGAGGAGGAAGA	0.493																																						uc010kii.1		NA																	0					0						c.(448-450)CTC>CTG		retinoic acid early transcript 1G precursor							213.0	197.0	202.0					6																	150240360		2203	4300	6503	SO:0001819	synonymous_variant	353091				antigen processing and presentation|immune response	integral to membrane|MHC class I protein complex	protein binding	g.chr6:150240360G>C	AY172579	CCDS43514.1	6q24.1-25.1	2009-04-29	2004-11-22		ENSG00000203722	ENSG00000203722			16795	protein-coding gene	gene with protein product		609244	"""retinoic acid early transcript 1G pseudogene"""			11827464, 15240696	Standard	NM_001001788		Approved	ULBP5	uc010kii.1	Q6H3X3	OTTHUMG00000015802	ENST00000367360.2:c.450C>G	6.37:g.150240360G>C						uc003qni.1_RNA|RAET1G_uc003qnm.2_RNA	p.L150L	NM_001001788	NP_001001788	Q6H3X3	RET1G_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)	3	518	-		Ovarian(120;0.0907)	150			Extracellular (Potential).|MHC class I alpha-2 like.			Silent	SNP	ENST00000367360.2	37	c.450C>G	CCDS43514.1																																																																																				0.493	RAET1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042668.2			18	183	0	0	0	0	18	183				
ESR1	2099	broad.mit.edu	37	6	152163869	152163869	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr6:152163869A>G	ENST00000206249.3	+	2	952	c.590A>G	c.(589-591)tAt>tGt	p.Y197C	ESR1_ENST00000440973.1_Missense_Mutation_p.Y197C|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000427531.2_Missense_Mutation_p.Y24C|ESR1_ENST00000456483.2_Missense_Mutation_p.Y197C|ESR1_ENST00000443427.1_Missense_Mutation_p.Y197C|ESR1_ENST00000338799.5_Missense_Mutation_p.Y197C	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	197	Mediates interaction with DNTTIP2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	GGCTACCATTATGGAGTCTGG	0.453																																						uc003qom.3		NA																	0				central_nervous_system(2)|ovary(1)|lung(1)|breast(1)	5						c.(589-591)TAT>TGT		estrogen receptor alpha isoform 4	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)						136.0	120.0	126.0					6																	152163869		2203	4300	6503	SO:0001583	missense	2099				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr6:152163869A>G	X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.590A>G	6.37:g.152163869A>G	ENSP00000206249:p.Tyr197Cys					ESR1_uc010kin.2_Missense_Mutation_p.Y197C|ESR1_uc010kio.2_Missense_Mutation_p.Y197C|ESR1_uc010kip.2_Missense_Mutation_p.Y197C|ESR1_uc003qon.3_Missense_Mutation_p.Y197C|ESR1_uc003qoo.3_Missense_Mutation_p.Y197C|ESR1_uc010kiq.2_Intron|ESR1_uc010kir.2_Intron|ESR1_uc011eet.1_RNA|ESR1_uc011eeu.1_RNA|ESR1_uc011eev.1_Missense_Mutation_p.Y24C|ESR1_uc011eew.1_Missense_Mutation_p.M29V	p.Y197C	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	4	960	+		Ovarian(120;0.0448)	197			NR C4-type.|Nuclear receptor.|Mediates interaction with DNTTIP2.		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Missense_Mutation	SNP	ENST00000206249.3	37	c.590A>G	CCDS5234.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.7|23.7	4.446310|4.446310	0.84101|0.84101	.|.	.|.	ENSG00000091831|ENSG00000091831	ENST00000427531|ENST00000440973;ENST00000338799;ENST00000456483;ENST00000443427;ENST00000206249;ENST00000347491;ENST00000431590;ENST00000544394	.|D;D;D;D;D;D	.|0.98732	.|-5.1;-5.1;-5.1;-5.1;-5.1;-5.1	6.07|6.07	6.07|6.07	0.98685|0.98685	.|Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99405|0.99405	0.9790|0.9790	H|H	0.94345|0.94345	3.525|3.525	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|0.999;1.0;1.0;1.0	D|D	0.98597|0.98597	1.0657|1.0657	5|10	.|0.87932	.|D	.|0	.|.	16.635|16.635	0.85050|0.85050	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|4;197;197;197	.|B5LY05;A8KAF4;G4XH65;P03372	.|.;.;.;ESR1_HUMAN	V|C	102|197;197;197;197;197;22;125;24	.|ENSP00000405330:Y197C;ENSP00000342630:Y197C;ENSP00000415934:Y197C;ENSP00000387500:Y197C;ENSP00000206249:Y197C;ENSP00000445454:Y24C	.|ENSP00000206249:Y197C	M|Y	+|+	1|2	0|0	ESR1|ESR1	152205562|152205562	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.983000|0.983000	0.72400|0.72400	9.339000|9.339000	0.96797|0.96797	2.330000|2.330000	0.79161|0.79161	0.477000|0.477000	0.44152|0.44152	ATG|TAT		0.453	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1			8	99	0	0	0	0	8	99				
TYW1B	441250	broad.mit.edu	37	7	72040531	72040531	+	RNA	SNP	G	G	T			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr7:72040531G>T	ENST00000435769.2	-	0	2082				TYW1B_ENST00000343721.5_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										GATGTCTTGTGTCCTTGGGAT	0.408																																						uc011kej.1		NA																	0					0						c.(1957-1959)GAC>GAA		tRNA-yW synthesizing protein 1 homolog B isoform							223.0	168.0	185.0					7																	72040531		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72040531G>T	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72040531G>T						TYW1B_uc011keh.1_Intron|TYW1B_uc011kei.1_Missense_Mutation_p.D279E	p.D653E	NM_001145440	NP_001138912	Q6NUM6	TYW1B_HUMAN			17	2118	-			653					A6NG09|B4DFY2|Q3KQX2	Missense_Mutation	SNP	ENST00000435769.2	37	c.1959C>A																																																																																					0.408	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		5	101	1	0	0.00116845	0.00134112	5	101				
MAGI2	9863	broad.mit.edu	37	7	77885568	77885568	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr7:77885568C>A	ENST00000354212.4	-	10	1992	c.1739G>T	c.(1738-1740)gGc>gTc	p.G580V	MAGI2_ENST00000522391.1_Missense_Mutation_p.G580V|MAGI2_ENST00000536571.1_Missense_Mutation_p.G412V|MAGI2_ENST00000535697.1_Missense_Mutation_p.G417V|MAGI2_ENST00000419488.1_Missense_Mutation_p.G580V	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	580					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGGATACGTGCCGTCTAGCTG	0.507																																						uc003ugx.2		NA																	0				ovary(5)|lung(4)|breast(1)|skin(1)	11						c.(1738-1740)GGC>GTC		membrane associated guanylate kinase, WW and PDZ							110.0	94.0	100.0					7																	77885568		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77885568C>A	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1739G>T	7.37:g.77885568C>A	ENSP00000346151:p.Gly580Val					MAGI2_uc003ugy.2_Missense_Mutation_p.G580V|MAGI2_uc010ldx.1_Missense_Mutation_p.G189V|MAGI2_uc010ldy.1_Missense_Mutation_p.G189V|MAGI2_uc011kgr.1_Missense_Mutation_p.G412V|MAGI2_uc011kgs.1_Missense_Mutation_p.G417V	p.G580V	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			10	1993	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	580					A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.1739G>T	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606674	0.66558	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.11604	2.87;2.86;2.76;3.73;3.75	5.85	5.85	0.93711	.	0.186370	0.25349	U	0.031305	T	0.27313	0.0670	M	0.68317	2.08	0.80722	D	1	D;B;P;P;P;P	0.54397	0.966;0.178;0.454;0.454;0.845;0.808	P;B;B;B;P;B	0.60949	0.881;0.124;0.12;0.186;0.586;0.274	T	0.00112	-1.2043	10	0.52906	T	0.07	.	12.4694	0.55779	0.0:0.9244:0.0:0.0756	.	417;412;580;580;580;580	F5GWH1;F5GWK7;B7Z4H4;E7EWI0;Q86UL8-2;Q86UL8	.;.;.;.;.;MAGI2_HUMAN	V	580;580;580;580;412;417	ENSP00000405766:G580V;ENSP00000346151:G580V;ENSP00000428389:G580V;ENSP00000441584:G412V;ENSP00000441603:G417V	ENSP00000346151:G580V	G	-	2	0	MAGI2	77723504	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	4.803000	0.62546	2.771000	0.95319	0.561000	0.74099	GGC		0.507	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		4	60	1	0	0.000602214	0.000694633	4	60				
ZNF804B	219578	broad.mit.edu	37	7	88964688	88964688	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr7:88964688A>T	ENST00000333190.4	+	4	3001	c.2392A>T	c.(2392-2394)Aaa>Taa	p.K798*		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	798							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAAATACTCAAAACGTAGATA	0.348										HNSCC(36;0.09)																												uc011khi.1		NA																	0				ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(2392-2394)AAA>TAA		zinc finger protein 804B							41.0	41.0	41.0					7																	88964688		2203	4299	6502	SO:0001587	stop_gained	219578					intracellular	zinc ion binding	g.chr7:88964688A>T	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2392A>T	7.37:g.88964688A>T	ENSP00000329638:p.Lys798*	HNSCC(36;0.09)					p.K798*	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	2930	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		798					B2RTV2|Q7Z714|Q96MN7	Nonsense_Mutation	SNP	ENST00000333190.4	37	c.2392A>T	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	A	42	9.752198	0.99255	.	.	ENSG00000182348	ENST00000333190	.	.	.	5.19	5.19	0.71726	.	0.240834	0.37012	N	0.002282	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.0065	15.2101	0.73214	1.0:0.0:0.0:0.0	.	.	.	.	X	798	.	ENSP00000329638:K798X	K	+	1	0	ZNF804B	88802624	0.961000	0.32948	0.252000	0.24328	0.464000	0.32679	3.827000	0.55745	2.187000	0.69744	0.533000	0.62120	AAA		0.348	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		9	72	0	0	0	0	9	72				
SAMD9L	219285	broad.mit.edu	37	7	92761232	92761232	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr7:92761232G>T	ENST00000318238.4	-	5	5269	c.4053C>A	c.(4051-4053)taC>taA	p.Y1351*	SAMD9L_ENST00000411955.1_Nonsense_Mutation_p.Y1351*|SAMD9L_ENST00000437805.1_Nonsense_Mutation_p.Y1351*	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1351					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TAGCATCTTTGTAGTTTGGAT	0.388																																						uc003umh.1		NA																	0				ovary(4)	4						c.(4051-4053)TAC>TAA		sterile alpha motif domain containing 9-like							119.0	118.0	118.0					7																	92761232		2203	4300	6503	SO:0001587	stop_gained	219285							g.chr7:92761232G>T	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.4053C>A	7.37:g.92761232G>T	ENSP00000326247:p.Tyr1351*					SAMD9L_uc003umj.1_Nonsense_Mutation_p.Y1351*|SAMD9L_uc003umi.1_Nonsense_Mutation_p.Y1351*|SAMD9L_uc010lfb.1_Nonsense_Mutation_p.Y1351*|SAMD9L_uc003umk.1_Nonsense_Mutation_p.Y1351*|SAMD9L_uc010lfc.1_Nonsense_Mutation_p.Y1351*|SAMD9L_uc010lfd.1_Nonsense_Mutation_p.Y1351*|SAMD9L_uc011khx.1_3'UTR	p.Y1351*	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	5269	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		1351					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Nonsense_Mutation	SNP	ENST00000318238.4	37	c.4053C>A	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	47	13.330957	0.99735	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805;ENST00000394472	.	.	.	5.22	1.19	0.21007	.	0.564160	0.17113	N	0.186557	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.4505	5.5702	0.17192	0.2015:0.0:0.5411:0.2573	.	.	.	.	X	1351;1351;1351;173	.	ENSP00000326247:Y1351X	Y	-	3	2	SAMD9L	92599168	0.000000	0.05858	0.111000	0.21465	0.009000	0.06853	-0.697000	0.05098	0.753000	0.32945	0.467000	0.42956	TAC		0.388	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		40	232	1	0	5.59e-11	6.75e-11	40	232				
CTTNBP2	83992	broad.mit.edu	37	7	117432666	117432666	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr7:117432666A>G	ENST00000160373.3	-	4	675	c.584T>C	c.(583-585)gTa>gCa	p.V195A	CTTNBP2_ENST00000487820.1_5'UTR	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	195					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TTTGGCCATTACGTCTTCGAG	0.483																																						uc003vjf.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(583-585)GTA>GCA		cortactin binding protein 2							143.0	138.0	140.0					7																	117432666		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117432666A>G		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.584T>C	7.37:g.117432666A>G	ENSP00000160373:p.Val195Ala						p.V195A	NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	4	676	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		195			Potential.		O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.584T>C	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	A	4.133	0.022917	0.08006	.	.	ENSG00000077063	ENST00000160373;ENST00000434890	T;T	0.65549	-0.16;0.91	5.77	0.801	0.18679	.	0.404283	0.29551	N	0.011836	T	0.51753	0.1693	L	0.49350	1.555	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.47275	-0.9130	10	0.46703	T	0.11	2.0E-4	9.5208	0.39133	0.735:0.0:0.265:0.0	.	195	Q8WZ74	CTTB2_HUMAN	A	195;153	ENSP00000160373:V195A;ENSP00000396014:V153A	ENSP00000160373:V195A	V	-	2	0	CTTNBP2	117219902	0.019000	0.18553	0.000000	0.03702	0.027000	0.11550	2.941000	0.49011	0.183000	0.20059	-0.297000	0.09499	GTA		0.483	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		3	159	0	0	0	0	3	159				
GNE	10020	broad.mit.edu	37	9	36227321	36227321	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr9:36227321T>C	ENST00000539815.1	-	6	1245	c.1205A>G	c.(1204-1206)cAt>cGt	p.H402R	GNE_ENST00000539208.1_Missense_Mutation_p.H292R|GNE_ENST00000447283.2_Missense_Mutation_p.H402R|GNE_ENST00000543356.2_Missense_Mutation_p.H397R|GNE_ENST00000377902.5_Missense_Mutation_p.H402R|GNE_ENST00000396594.3_Missense_Mutation_p.H433R			Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	402					carbohydrate phosphorylation (GO:0046835)|cell adhesion (GO:0007155)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate metabolic process (GO:0006054)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|metal ion binding (GO:0046872)|N-acylmannosamine kinase activity (GO:0009384)|UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761)			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			TTCAAGAATATGGTCAATATC	0.408																																					GBM(184;106 2118 20004 35750 50727)	uc010mlh.2		NA																	0					0						c.(1204-1206)CAT>CGT		UDP-N-acetylglucosamine-2-epimerase/N-							82.0	78.0	79.0					9																	36227321		2203	4300	6503	SO:0001583	missense	10020				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity	g.chr9:36227321T>C	AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921			23657	protein-coding gene	gene with protein product		603824	"""UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase"""	IBM2		9305887, 9305888	Standard	NM_005476		Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000539815.1:c.1205A>G	9.37:g.36227321T>C	ENSP00000439155:p.His402Arg					CLTA_uc003zzf.1_Intron|GNE_uc010mlg.2_Missense_Mutation_p.H402R|GNE_uc011lpl.1_Missense_Mutation_p.H292R|GNE_uc010mli.2_Missense_Mutation_p.H433R|GNE_uc010mlj.2_Missense_Mutation_p.H397R	p.H402R	NM_005476	NP_005467	Q9Y223	GLCNE_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		7	1420	-			402			UDP-N-acetylglucosamine 2-epimerase.		A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Missense_Mutation	SNP	ENST00000539815.1	37	c.1205A>G	CCDS6602.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.284775	0.80803	.	.	ENSG00000159921	ENST00000377902;ENST00000396594;ENST00000339267;ENST00000539815;ENST00000543356;ENST00000539208;ENST00000447283	D;D;D;D;D	0.99724	-6.19;-6.22;-6.19;-5.99;-6.54	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.98899	0.9627	L	0.27053	0.805	0.80722	D	1	P;D;D;P;P	0.56035	0.936;0.974;0.974;0.956;0.895	P;P;P;B;B	0.50659	0.553;0.647;0.647;0.444;0.351	D	0.99194	1.0871	10	0.52906	T	0.07	0.0814	14.3758	0.66874	0.0:0.0:0.0:1.0	.	292;361;433;402;402	F5H499;Q9Y223-3;Q9Y223-2;Q9Y223;A7UNU7	.;.;.;GLCNE_HUMAN;.	R	402;433;397;402;374;292;402	ENSP00000367134:H402R;ENSP00000379839:H433R;ENSP00000439155:H402R;ENSP00000445117:H292R;ENSP00000414760:H402R	ENSP00000340770:H397R	H	-	2	0	GNE	36217321	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.344000	0.79328	2.279000	0.76181	0.533000	0.62120	CAT		0.408	GNE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052412.4	NM_005476		7	102	0	0	0	0	7	102				
USP9X	8239	broad.mit.edu	37	X	41000632	41000632	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chrX:41000632A>G	ENST00000324545.8	+	9	1742	c.1109A>G	c.(1108-1110)cAt>cGt	p.H370R	USP9X_ENST00000378308.2_Missense_Mutation_p.H370R	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	370					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TACTATACTCATCGACATGGT	0.353																																					Ovarian(172;1807 2695 35459 49286)	uc004dfb.2		NA																	0				lung(3)|breast(2)|ovary(1)	6						c.(1108-1110)CAT>CGT		ubiquitin specific protease 9, X-linked isoform							82.0	78.0	79.0					X																	41000632		2155	4286	6441	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41000632A>G	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.1109A>G	X.37:g.41000632A>G	ENSP00000316357:p.His370Arg					USP9X_uc004dfc.2_Missense_Mutation_p.H370R	p.H370R	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN			9	1742	+			370					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.1109A>G	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.161432	0.78226	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.75477	-0.94;-0.94	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.84543	0.5495	M	0.71581	2.175	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69307	0.963;0.919	D	0.85662	0.1289	10	0.54805	T	0.06	.	14.8985	0.70661	1.0:0.0:0.0:0.0	.	370;370	Q93008-1;Q93008	.;USP9X_HUMAN	R	370	ENSP00000367558:H370R;ENSP00000316357:H370R	ENSP00000316357:H370R	H	+	2	0	USP9X	40885576	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.962000	0.93254	1.900000	0.55004	0.486000	0.48141	CAT		0.353	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		7	33	0	0	0	0	7	33				
CACNA1F	778	broad.mit.edu	37	X	49065126	49065126	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chrX:49065126G>A	ENST00000376265.2	-	43	5066	c.5005C>T	c.(5005-5007)Ccc>Tcc	p.P1669S	CACNA1F_ENST00000376251.1_Missense_Mutation_p.P1604S|CACNA1F_ENST00000323022.5_Missense_Mutation_p.P1658S	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1669					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CGAGCTGAGGGCTGGGAGACC	0.567																																						uc004dnb.2		NA																	0				breast(3)|ovary(1)|kidney(1)|skin(1)	6						c.(5005-5007)CCC>TCC		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						56.0	52.0	53.0					X																	49065126		2203	4300	6503	SO:0001583	missense	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49065126G>A	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.5005C>T	X.37:g.49065126G>A	ENSP00000365441:p.Pro1669Ser					CACNA1F_uc010nip.2_Missense_Mutation_p.P1658S	p.P1669S	NM_005183	NP_005174	O60840	CAC1F_HUMAN			43	5067	-			1669			Cytoplasmic (Potential).		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.5005C>T	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	g	2.032	-0.422148	0.04734	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.96136	-3.92;-3.84;-3.84	5.01	2.25	0.28309	.	4.310420	0.00508	N	0.000176	D	0.90549	0.7038	N	0.21448	0.665	0.26621	N	0.972649	B;B	0.14438	0.004;0.01	B;B	0.12156	0.007;0.006	T	0.79470	-0.1790	10	0.22109	T	0.4	.	4.461	0.11666	0.1985:0.0:0.6238:0.1777	.	1658;1669	F5CIQ9;O60840	.;CAC1F_HUMAN	S	1604;1658;1669	ENSP00000365427:P1604S;ENSP00000321618:P1658S;ENSP00000365441:P1669S	ENSP00000321618:P1658S	P	-	1	0	CACNA1F	48952070	0.999000	0.42202	0.961000	0.40146	0.005000	0.04900	0.147000	0.16202	0.209000	0.20645	-0.930000	0.02707	CCC		0.567	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		3	55	0	0	0	0	3	55				
TP53	7157	broad.mit.edu	37	17	7578222	7578223	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr17:7578222_7578223delTC	ENST00000269305.4	-	6	815_816	c.626_627delGA	c.(625-627)agafs	p.R209fs	TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.R209fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	209	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> I (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R209fs*6(38)|p.0?(8)|p.R209K(7)|p.?(5)|p.R209T(3)|p.R77fs*6(2)|p.R209fs*35(2)|p.D207fs*6(2)|p.R209fs*38(2)|p.R116fs*6(2)|p.R77K(1)|p.R116K(1)|p.E204_N210delEYLDDRN(1)|p.R209fs*36(1)|p.D207_R213delDDRNTFR(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.N210fs*7(1)|p.R209S(1)|p.R209I(1)|p.R209_R213delRNTFR(1)|p.D207_V216del10(1)|p.R209fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GAAAAGTGTTTCTGTCATCCAA	0.535		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		84	Deletion - Frameshift(51)|Substitution - Missense(14)|Whole gene deletion(8)|Deletion - In frame(5)|Unknown(5)|Insertion - Frameshift(1)	p.R209fs*6(31)|p.R209*(9)|p.0?(7)|p.R209T(3)|p.R209K(3)|p.R209fs*35(2)|p.D207fs*6(2)|p.R209fs*38(2)|p.K164_P219del(1)|p.E204_N210delEYLDDRN(1)|p.R209fs*36(1)|p.D207_R213delDDRNTFR(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.N210fs*7(1)|p.R209R(1)|p.R209S(1)|p.R209I(1)|p.R209_R213delRNTFR(1)|p.D207_V216del10(1)|p.R209fs*7(1)|p.R209fs*5(1)	biliary_tract(11)|breast(9)|upper_aerodigestive_tract(8)|oesophagus(7)|large_intestine(6)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(5)|prostate(5)|lung(4)|bone(4)|stomach(3)|soft_tissue(3)|ovary(3)|pancreas(3)|salivary_gland(2)|skin(2)|cervix(1)|urinary_tract(1)|liver(1)|thyroid(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CD962734	TP53	D		c.(625-627)AGAfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001589	frameshift_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578222_7578223delTC	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.626_627delGA	17.37:g.7578222_7578223delTC	ENSP00000269305:p.Arg209fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Frame_Shift_Del_p.R209fs|TP53_uc002gih.2_Frame_Shift_Del_p.R209fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.R77fs|TP53_uc010cng.1_Frame_Shift_Del_p.R77fs|TP53_uc002gii.1_Frame_Shift_Del_p.R77fs|TP53_uc010cnh.1_Frame_Shift_Del_p.R209fs|TP53_uc010cni.1_Frame_Shift_Del_p.R209fs|TP53_uc002gij.2_Frame_Shift_Del_p.R209fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Del_p.R116fs|TP53_uc002gio.2_Frame_Shift_Del_p.R77fs|TP53_uc010vug.1_Frame_Shift_Del_p.R170fs	p.R209fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	820_821	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	209		R -> I (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.626_627delGA	CCDS11118.1																																																																																				0.535	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		19	87	NA	NA	NA	NA	19	87	---	---	---	---
CELSR1	9620	broad.mit.edu	37	22	46777939	46777939	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5358-01A-01D-1512-08	TCGA-CN-5358-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	498c0b1f-678f-4f70-b0d1-aad89bfa2a23	125882f9-462f-4cc5-935e-4b8b253c1cce	g.chr22:46777939delG	ENST00000262738.3	-	21	6891	c.6892delC	c.(6892-6894)ctgfs	p.L2299fs		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2299					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGCCTCAGCAGGGGGCCTTCT	0.667																																						uc003bhw.1		NA																	0				lung(4)|breast(4)|pancreas(2)|skin(1)	11						c.(6892-6894)CTGfs		cadherin EGF LAG seven-pass G-type receptor 1							4.0	5.0	5.0					22																	46777939		2076	4058	6134	SO:0001589	frameshift_variant	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46777939delG	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.6892delC	22.37:g.46777939delG	ENSP00000262738:p.Leu2299fs					CELSR1_uc011arc.1_Frame_Shift_Del_p.L619fs	p.L2298fs	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	21	6892	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	2298			Extracellular (Potential).		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Frame_Shift_Del	DEL	ENST00000262738.3	37	c.6892delC	CCDS14076.1																																																																																				0.667	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		2	4	NA	NA	NA	NA	2	4	---	---	---	---
