#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ZNF37A	7587	broad.mit.edu	37	10	38407123	38407123	+	Silent	SNP	G	G	A	rs149714320	byFrequency	TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr10:38407123G>A	ENST00000361085.5	+	7	1389	c.1044G>A	c.(1042-1044)acG>acA	p.T348T	ZNF37A_ENST00000351773.3_Silent_p.T348T	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	348					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)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						ATCAAAGAACGCACACAGGGG	0.413													A|||	2	0.000399361	0.0015	0.0	5008	,	,		20470	0.0		0.0	False		,,,				2504	0.0					ENST00000351773.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						c.(1042-1044)acG>acA		zinc finger protein 37A		A	,,	6,4400	825.2+/-416.5	0,6,2197	96.0	100.0	99.0		1044,1044,1044	-0.7	0.9	10	dbSNP_134	99	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ZNF37A	NM_001007094.2,NM_001178101.1,NM_003421.2	,,	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	,,	348/562,348/562,348/562	38407123	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	7587					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38407123G>A	X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.1044G>A	10.37:g.38407123G>A						ZNF37A_ENST00000361085.4_Silent_p.T348T	p.T348T	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN			8	1874	+			348					B3KRQ3|D3DRZ3|Q96B88	Silent	SNP	ENST00000361085.5	37	c.1044G>A	CCDS31183.1																																																																																				0.413	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421		24	81	0	0	0	1	0	24	81				
LONRF2	164832	broad.mit.edu	37	2	100912016	100912016	+	Splice_Site	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr2:100912016C>T	ENST00000393437.3	-	8	2116		c.e8-1		LONRF2_ENST00000409647.1_Splice_Site	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2								ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TTGCCAATAACTGTAACAAAA	0.378																																						ENST00000393437.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						c.e8-1		LON peptidase N-terminal domain and ring finger 2							67.0	65.0	66.0					2																	100912016		2203	4300	6503	SO:0001630	splice_region_variant	164832				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr2:100912016C>T	AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"""RING-type (C3HC4) zinc fingers"""	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1477-1G>A	2.37:g.100912016C>T						LONRF2_ENST00000409647.1_Splice_Site		NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN			8	2116	-								B9A006|Q6ZSR4	Splice_Site	SNP	ENST00000393437.3	37		CCDS2046.2	.	.	.	.	.	.	.	.	.	.	C	12.41	1.930838	0.34096	.	.	ENSG00000170500	ENST00000393437;ENST00000409647	.	.	.	4.25	4.25	0.50352	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0183	0.86425	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LONRF2	100278448	1.000000	0.71417	0.887000	0.34795	0.130000	0.20726	6.627000	0.74258	2.054000	0.61138	0.655000	0.94253	.		0.378	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253161.2	NM_198461	Intron	46	50	0	0	0	1	0	46	50				
PPFIA3	8541	broad.mit.edu	37	19	49640025	49640025	+	Silent	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr19:49640025C>T	ENST00000334186.4	+	15	2059	c.1710C>T	c.(1708-1710)ttC>ttT	p.F570F	PPFIA3_ENST00000602351.1_Silent_p.F570F	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	570					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CACCCCCATTCCCTGGGGAAC	0.667																																						ENST00000334186.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35						c.(1708-1710)ttC>ttT		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3							36.0	31.0	32.0					19																	49640025		2200	4297	6497	SO:0001819	synonymous_variant	8541					cell surface|cytoplasm	protein binding	g.chr19:49640025C>T	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.1710C>T	19.37:g.49640025C>T						PPFIA3_ENST00000602351.1_Silent_p.F570F	p.F570F	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	15	2059	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	570					A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Silent	SNP	ENST00000334186.4	37	c.1710C>T	CCDS12758.1																																																																																				0.667	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		4	9	0	0	0	1	0	4	9				
FAM71B	153745	broad.mit.edu	37	5	156590520	156590520	+	Silent	SNP	C	C	A	rs144904764		TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr5:156590520C>A	ENST00000302938.4	-	2	851	c.756G>T	c.(754-756)acG>acT	p.T252T		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	252	Ala-rich.					nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGGAGTGCTCGTGGATGGAG	0.577																																						ENST00000302938.4																			0				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(754-756)acG>acT		family with sequence similarity 71, member B							84.0	73.0	76.0					5																	156590520		2203	4300	6503	SO:0001819	synonymous_variant	153745					nucleus		g.chr5:156590520C>A		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.756G>T	5.37:g.156590520C>A							p.T252T	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	851	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	252			Ala-rich.		Q1EDD9|Q8TC64|Q96LY8	Silent	SNP	ENST00000302938.4	37	c.756G>T	CCDS4335.1																																																																																				0.577	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		57	51	1	0	1.03172e-35	1	1.15886e-35	57	51				
CHD9	80205	broad.mit.edu	37	16	53338091	53338091	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr16:53338091C>G	ENST00000398510.3	+	30	6260	c.6173C>G	c.(6172-6174)tCt>tGt	p.S2058C	CHD9_ENST00000447540.1_Missense_Mutation_p.S2058C|CHD9_ENST00000564845.1_Missense_Mutation_p.S2058C|CHD9_ENST00000566029.1_Missense_Mutation_p.S2058C			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2058					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GAGCCTCAGTCTTCTGAAGAA	0.413																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(6172-6174)tCt>tGt		chromodomain helicase DNA binding protein 9							39.0	36.0	37.0					16																	53338091		1839	4085	5924	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53338091C>G	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.6173C>G	16.37:g.53338091C>G	ENSP00000381522:p.Ser2058Cys					CHD9_ENST00000447540.1_Missense_Mutation_p.S2058C|CHD9_ENST00000564845.1_Missense_Mutation_p.S2058C|CHD9_ENST00000398510.3_Missense_Mutation_p.S2058C	p.S2058C			Q3L8U1	CHD9_HUMAN			31	6382	+		all_cancers(37;0.0212)	2058					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.6173C>G		.	.	.	.	.	.	.	.	.	.	C	16.56	3.157507	0.57368	.	.	ENSG00000177200	ENST00000447540;ENST00000398510	D;D	0.87179	-2.19;-2.22	6.16	5.22	0.72569	.	0.000000	0.64402	D	0.000010	D	0.87481	0.6188	L	0.56769	1.78	0.31039	N	0.71653	P;P;P;P	0.52463	0.953;0.904;0.845;0.904	B;P;B;P	0.46339	0.41;0.513;0.315;0.513	D	0.88200	0.2883	10	0.66056	D	0.02	-8.1856	15.8535	0.78956	0.0:0.9353:0.0:0.0647	.	2058;2058;2058;2058	B7ZML1;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	C	2058	ENSP00000396345:S2058C;ENSP00000381522:S2058C	ENSP00000381522:S2058C	S	+	2	0	CHD9	51895592	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.769000	0.47654	1.627000	0.50400	0.650000	0.86243	TCT		0.413	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		11	19	0	0	0	1	0	11	19				
AGMO	392636	broad.mit.edu	37	7	15405151	15405151	+	Silent	SNP	T	T	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr7:15405151T>A	ENST00000342526.3	-	12	1420	c.1251A>T	c.(1249-1251)tcA>tcT	p.S417S		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	417					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						CAAAAGCAGATGACAATGAAG	0.403																																						ENST00000342526.3																			0				breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						c.(1249-1251)tcA>tcT		alkylglycerol monooxygenase							98.0	89.0	92.0					7																	15405151		2203	4300	6503	SO:0001819	synonymous_variant	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15405151T>A		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.1251A>T	7.37:g.15405151T>A							p.S417S	NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN			12	1420	-			417					A4D114|A6NCH5	Silent	SNP	ENST00000342526.3	37	c.1251A>T	CCDS34604.1	.	.	.	.	.	.	.	.	.	.	T	0.330	-0.956492	0.02267	.	.	ENSG00000187546	ENST00000407277	.	.	.	5.78	-3.55	0.04639	.	.	.	.	.	T	0.17365	0.0417	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26849	-1.0091	4	.	.	.	-24.8978	0.4814	0.00549	0.3207:0.1334:0.2193:0.3267	.	.	.	.	F	48	.	.	I	-	1	0	AGMO	15371676	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	-0.031000	0.12287	-0.462000	0.06984	0.533000	0.62120	ATC		0.403	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		10	20	0	0	0	1	0	10	20				
TTF1	7270	broad.mit.edu	37	9	135251303	135251303	+	Silent	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr9:135251303C>T	ENST00000334270.2	-	11	2756	c.2717G>A	c.(2716-2718)tGa>tAa	p.*906*	TTF1_ENST00000461970.1_5'UTR	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	0					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		ctcctgacctcagatgatcca	0.507																																						ENST00000334270.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(2716-2718)tGa>tAa		transcription termination factor, RNA polymerase I							28.0	28.0	28.0					9																	135251303		2202	4296	6498	SO:0001819	synonymous_variant	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135251303C>T	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.2717G>A	9.37:g.135251303C>T						TTF1_ENST00000461970.1_5'UTR	p.*906*	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	11	2756	-		Myeloproliferative disorder(178;0.204)	0					A1L160|Q4VXF3|Q58EY2|Q6P5T5	Silent	SNP	ENST00000334270.2	37	c.2717G>A	CCDS6948.1																																																																																				0.507	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		5	11	0	0	0	1	0	5	11				
KPNB1	3837	broad.mit.edu	37	17	45742519	45742519	+	Missense_Mutation	SNP	A	A	C			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr17:45742519A>C	ENST00000290158.4	+	9	1401	c.994A>C	c.(994-996)Aaa>Caa	p.K332Q	KPNB1_ENST00000540627.1_Missense_Mutation_p.K187Q|KPNB1_ENST00000537679.1_Intron|KPNB1_ENST00000535458.2_Missense_Mutation_p.K187Q	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	332	IAB-binding.				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|protein import into nucleus (GO:0006606)|protein import into nucleus, translocation (GO:0000060)|ribosomal protein import into nucleus (GO:0006610)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						GACACTAACTAAACAGGTGAG	0.473																																						ENST00000290158.4																			0				breast(1)|ovary(1)|pancreas(1)|skin(1)	4						c.(994-996)Aaa>Caa		karyopherin (importin) beta 1							77.0	69.0	72.0					17																	45742519		2203	4300	6503	SO:0001583	missense	3837				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding	g.chr17:45742519A>C	L39793	CCDS11513.1, CCDS62228.1	17q21.32	2013-02-14			ENSG00000108424	ENSG00000108424		"""Importins"", ""Armadillo repeat containing"""	6400	protein-coding gene	gene with protein product	"""importin 1"""	602738				7615630, 7627554	Standard	NM_002265		Approved	NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1	uc002ilt.2	Q14974	OTTHUMG00000036957	ENST00000290158.4:c.994A>C	17.37:g.45742519A>C	ENSP00000290158:p.Lys332Gln					KPNB1_ENST00000540627.1_Missense_Mutation_p.K187Q|KPNB1_ENST00000537679.1_Intron|KPNB1_ENST00000535458.2_Missense_Mutation_p.K187Q	p.K332Q	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN			9	1401	+			332			IAB-binding.		B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27	Missense_Mutation	SNP	ENST00000290158.4	37	c.994A>C	CCDS11513.1	.	.	.	.	.	.	.	.	.	.	A	17.02	3.282834	0.59867	.	.	ENSG00000108424	ENST00000535458;ENST00000290158;ENST00000540627	T;T;T	0.68479	-0.33;-0.33;-0.33	5.76	5.76	0.90799	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62829	0.2460	L	0.55743	1.74	0.34319	D	0.686324	B	0.13145	0.007	B	0.09377	0.004	T	0.63695	-0.6579	9	0.30078	T	0.28	-25.6352	16.0742	0.80958	1.0:0.0:0.0:0.0	.	332	Q14974	IMB1_HUMAN	Q	187;332;187	ENSP00000438253:K187Q;ENSP00000290158:K332Q;ENSP00000438964:K187Q	ENSP00000290158:K332Q	K	+	1	0	KPNB1	43097518	1.000000	0.71417	0.989000	0.46669	0.978000	0.69477	9.339000	0.96797	2.204000	0.70986	0.482000	0.46254	AAA		0.473	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089755.2	NM_002265		9	27	0	0	0	1	0	9	27				
FBXO41	150726	broad.mit.edu	37	2	73492558	73492558	+	Silent	SNP	G	G	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr2:73492558G>T	ENST00000521871.1	-	5	1831	c.1416C>A	c.(1414-1416)cgC>cgA	p.R472R	FBXO41_ENST00000295133.5_Silent_p.R533R|FBXO41_ENST00000520530.2_Silent_p.R472R			Q8TF61	FBX41_HUMAN	F-box protein 41	472										breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						GGCGGGGTCTGCGCTGCCAGT	0.701																																						ENST00000521871.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						c.(1414-1416)cgC>cgA		F-box protein 41							21.0	27.0	25.0					2																	73492558		2050	4201	6251	SO:0001819	synonymous_variant	150726					intracellular	protein binding|zinc ion binding	g.chr2:73492558G>T	AB075820	CCDS46337.1, CCDS46337.2	2p13.2	2004-08-24				ENSG00000163013		"""F-boxes /  ""other"""""	29409	protein-coding gene	gene with protein product		609108				11853319	Standard	NM_001080410		Approved	KIAA1940, Fbx41	uc021vjh.1	Q8TF61		ENST00000521871.1:c.1416C>A	2.37:g.73492558G>T						FBXO41_ENST00000295133.5_Silent_p.R533R|FBXO41_ENST00000520530.2_Silent_p.R472R	p.R472R			Q8TF61	FBX41_HUMAN			5	1831	-			472					G3V0Z7|Q2M1V8	Silent	SNP	ENST00000521871.1	37	c.1416C>A	CCDS46337.2																																																																																				0.701	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377381.1			19	17	1	0	5.35267e-07	1	5.51557e-07	19	17				
DNTTIP2	30836	broad.mit.edu	37	1	94342497	94342497	+	Nonsense_Mutation	SNP	G	G	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr1:94342497G>A	ENST00000436063.2	-	2	1051	c.994C>T	c.(994-996)Caa>Taa	p.Q332*	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	332					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		ACTAACTGTTGAAGGCTAGTG	0.378																																						ENST00000436063.2																			0				NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38						c.(994-996)Caa>Taa		deoxynucleotidyltransferase, terminal, interacting protein 2							68.0	59.0	62.0					1																	94342497		1835	4086	5921	SO:0001587	stop_gained	30836				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr1:94342497G>A	AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"""acidic 82 kDa protein mRNA"""	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.994C>T	1.37:g.94342497G>A	ENSP00000411010:p.Gln332*					DNTTIP2_ENST00000460191.1_5'UTR	p.Q332*	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)	2	1051	-		all_lung(203;0.0111)|Lung NSC(277;0.0347)	332					Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Nonsense_Mutation	SNP	ENST00000436063.2	37	c.994C>T	CCDS44174.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823471	0.32237	.	.	ENSG00000067334	ENST00000436063	.	.	.	5.43	4.45	0.53987	.	0.415295	0.25241	N	0.032100	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	8.0926	0.30809	0.0:0.1356:0.6261:0.2383	.	.	.	.	X	332	.	ENSP00000352137:Q332X	Q	-	1	0	DNTTIP2	94115085	0.038000	0.19896	0.116000	0.21606	0.024000	0.10985	1.161000	0.31773	2.824000	0.97209	0.655000	0.94253	CAA		0.378	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028317.2	NM_014597		12	40	0	0	0	1	0	12	40				
KBTBD7	84078	broad.mit.edu	37	13	41767894	41767894	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr13:41767894C>T	ENST00000379483.3	-	1	808	c.500G>A	c.(499-501)cGt>cAt	p.R167H		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	167										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		CAGGTCAAGACGTCGGGCTAA	0.567																																						ENST00000379483.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(499-501)cGt>cAt		kelch repeat and BTB (POZ) domain containing 7							113.0	98.0	103.0					13																	41767894		2203	4298	6501	SO:0001583	missense	84078						protein binding	g.chr13:41767894C>T	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.500G>A	13.37:g.41767894C>T	ENSP00000368797:p.Arg167His						p.R167H	NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	1	808	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	167					B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	ENST00000379483.3	37	c.500G>A	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.691916	0.48097	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	T	0.73469	-0.75	5.42	4.58	0.56647	BTB/POZ-like (1);BTB/POZ fold (2);	0.000000	0.64402	U	0.000001	T	0.73305	0.3570	N	0.14661	0.345	0.46376	D	0.999017	D	0.76494	0.999	D	0.69824	0.966	T	0.73978	-0.3812	10	0.39692	T	0.17	.	12.1492	0.54040	0.0:0.9157:0.0:0.0843	.	167	Q8WVZ9	KBTB7_HUMAN	H	167;69	ENSP00000368797:R167H	ENSP00000368797:R167H	R	-	2	0	KBTBD7	40665894	1.000000	0.71417	0.867000	0.34043	0.876000	0.50452	5.514000	0.67043	1.281000	0.44480	0.563000	0.77884	CGT		0.567	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		23	62	0	0	0	1	0	23	62				
TMEM186	25880	broad.mit.edu	37	16	8890157	8890157	+	Silent	SNP	G	G	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr16:8890157G>T	ENST00000333050.6	-	2	327	c.294C>A	c.(292-294)ctC>ctA	p.L98L	PMM2_ENST00000566983.1_Intron|PMM2_ENST00000539622.1_5'Flank|PMM2_ENST00000268261.4_5'Flank|PMM2_ENST00000537352.1_5'Flank|PMM2_ENST00000569958.1_5'Flank|TMEM186_ENST00000564869.1_Intron	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN	transmembrane protein 186	98						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						TGTTGAGAGTGAGGAGGCCCT	0.537																																						ENST00000333050.6																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(292-294)ctC>ctA		transmembrane protein 186							115.0	99.0	104.0					16																	8890157		2197	4300	6497	SO:0001819	synonymous_variant	25880					integral to membrane|mitochondrion		g.chr16:8890157G>T	BC015912	CCDS10535.1	16p13.2	2008-02-05	2007-02-08	2007-02-08	ENSG00000184857	ENSG00000184857			24530	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 51"""	C16orf51		11230166	Standard	NM_015421		Approved	DKFZP564K2062	uc002cze.3	Q96B77	OTTHUMG00000129696	ENST00000333050.6:c.294C>A	16.37:g.8890157G>T						PMM2_ENST00000566983.1_Intron|TMEM186_ENST00000564869.1_Intron	p.L98L	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN			2	327	-			98					B2RAY0|Q9Y4T4	Silent	SNP	ENST00000333050.6	37	c.294C>A	CCDS10535.1																																																																																				0.537	TMEM186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251903.1	NM_015421		19	32	1	0	1.67942e-08	1	1.76116e-08	19	32				
TMEM91	641649	broad.mit.edu	37	19	41889762	41889762	+	Missense_Mutation	SNP	C	C	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr19:41889762C>A	ENST00000392002.2	+	4	1163	c.503C>A	c.(502-504)tCc>tAc	p.S168Y	CTC-435M10.3_ENST00000604424.1_Intron|TMEM91_ENST00000604123.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron|TMEM91_ENST00000447302.2_Intron|BCKDHA_ENST00000595085.1_Intron|TMEM91_ENST00000544232.1_Intron|TMEM91_ENST00000542945.1_3'UTR|TMEM91_ENST00000436170.2_Intron|TMEM91_ENST00000539627.1_3'UTR|TMEM91_ENST00000413014.2_Intron|TMEM91_ENST00000356385.4_3'UTR	NM_001098821.1	NP_001092291.1	Q6ZNR0	TMM91_HUMAN	transmembrane protein 91	168					hematopoietic progenitor cell differentiation (GO:0002244)|response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)				lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						TACCTTGCCTCCCGAGACCCG	0.672																																						ENST00000392002.2																			0				lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						c.(502-504)tCc>tAc		transmembrane protein 91							25.0	31.0	29.0					19																	41889762		2023	4173	6196	SO:0001583	missense	641649							g.chr19:41889762C>A	AK130820, BC063705	CCDS42571.1, CCDS42572.1, CCDS46082.1, CCDS46083.1, CCDS46084.1	19q13.2	2009-10-16							32393	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 6"""					12477932	Standard	NM_001098824		Approved	FLJ27310, IFITMD6		Q6ZNR0		ENST00000392002.2:c.503C>A	19.37:g.41889762C>A	ENSP00000375859:p.Ser168Tyr					TMEM91_ENST00000356385.4_3'UTR|TMEM91_ENST00000604123.1_Intron|BCKDHA_ENST00000595085.1_Intron|TMEM91_ENST00000447302.2_Intron|CTC-435M10.3_ENST00000540732.1_Intron|TMEM91_ENST00000413014.2_Intron|TMEM91_ENST00000542945.1_3'UTR|TMEM91_ENST00000539627.1_3'UTR|TMEM91_ENST00000436170.2_Intron|TMEM91_ENST00000544232.1_Intron	p.S168Y	NM_001098821.1	NP_001092291.1					4	1163	+								C9J9D1|C9JZ62|C9K046|Q6P434	Missense_Mutation	SNP	ENST00000392002.2	37	c.503C>A	CCDS42571.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.754910	0.69648	.	.	ENSG00000142046	ENST00000392002	D	0.95821	-3.82	4.09	4.09	0.47781	.	.	.	.	.	D	0.93259	0.7852	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.68765	0.96	D	0.92981	0.6406	9	0.72032	D	0.01	.	9.5771	0.39465	0.3291:0.6709:0.0:0.0	.	168	Q6ZNR0	TMM91_HUMAN	Y	168	ENSP00000375859:S168Y	ENSP00000375859:S168Y	S	+	2	0	TMEM91	46581602	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.223000	0.42936	2.292000	0.77174	0.561000	0.74099	TCC		0.672	TMEM91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398302.2			10	25	1	0	1.33987e-11	1	1.44341e-11	10	25				
PCDHGB1	56104	broad.mit.edu	37	5	140731304	140731304	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr5:140731304G>A	ENST00000523390.1	+	1	1477	c.1477G>A	c.(1477-1479)Gag>Aag	p.E493K	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	493	Cadherin 5. {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)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTGACCTGGAGCCGCGGGA	0.647																																						ENST00000523390.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16						c.(1477-1479)Gag>Aag									35.0	41.0	39.0					5																	140731304		1975	4159	6134	SO:0001583	missense	56104							g.chr5:140731304G>A	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.1477G>A	5.37:g.140731304G>A	ENSP00000429273:p.Glu493Lys					PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.E493K	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1477	+								Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	c.1477G>A	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	14.19	2.462465	0.43736	.	.	ENSG00000254221	ENST00000523390	T	0.51574	0.7	5.49	4.56	0.56223	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.41650	0.1168	N	0.25245	0.725	0.21020	N	0.999808	B;B	0.27700	0.154;0.186	B;B	0.35727	0.209;0.208	T	0.43734	-0.9373	9	0.59425	D	0.04	.	15.0725	0.72049	0.0:0.0:0.8574:0.1425	.	493;493	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	K	493	ENSP00000429273:E493K	ENSP00000429273:E493K	E	+	1	0	PCDHGB1	140711488	0.420000	0.25457	0.992000	0.48379	0.406000	0.30931	2.116000	0.41930	2.740000	0.93945	0.563000	0.77884	GAG		0.647	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		51	60	0	0	0	1	0	51	60				
HOXD3	3232	broad.mit.edu	37	2	177033996	177033996	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr2:177033996C>T	ENST00000468418.3	+	3	2244	c.154C>T	c.(154-156)Ccc>Tcc	p.P52S	HOXD3_ENST00000249440.3_Missense_Mutation_p.P52S|HOXD3_ENST00000410016.1_Missense_Mutation_p.P52S			P31249	HXD3_HUMAN	homeobox D3	52					anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		GCCCTACCCACCCCCTGCTGC	0.587																																						ENST00000468418.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23						c.(154-156)Ccc>Tcc		homeobox D3							86.0	88.0	87.0					2																	177033996		2203	4300	6503	SO:0001583	missense	3232				anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177033996C>T		CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"""Homeoboxes / ANTP class : HOXL subclass"""	5137	protein-coding gene	gene with protein product		142980	"""homeo box D3"""	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517	ENST00000468418.3:c.154C>T	2.37:g.177033996C>T	ENSP00000424734:p.Pro52Ser					HOXD3_ENST00000410016.1_Missense_Mutation_p.P52S|HOXD3_ENST00000249440.3_Missense_Mutation_p.P52S	p.P52S			P31249	HXD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)	3	2244	+			52					Q99955|Q9BSC5	Missense_Mutation	SNP	ENST00000468418.3	37	c.154C>T	CCDS2270.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615901	0.66672	.	.	ENSG00000128652	ENST00000432796;ENST00000468418;ENST00000410016;ENST00000249440	D;D;D	0.89050	-2.46;-2.46;-2.46	5.48	5.48	0.80851	.	0.344055	0.34906	N	0.003593	D	0.84737	0.5538	L	0.37697	1.125	0.26298	N	0.978024	B	0.09022	0.002	B	0.08055	0.003	T	0.74662	-0.3590	10	0.45353	T	0.12	.	16.7124	0.85389	0.0:0.8709:0.1291:0.0	.	52	P31249	HXD3_HUMAN	S	52	ENSP00000424734:P52S;ENSP00000386498:P52S;ENSP00000249440:P52S	ENSP00000249440:P52S	P	+	1	0	HOXD3	176742242	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	2.506000	0.45433	2.724000	0.93272	0.655000	0.94253	CCC		0.587	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334246.4			19	56	0	0	0	1	0	19	56				
CELSR1	9620	broad.mit.edu	37	22	46859976	46859976	+	Missense_Mutation	SNP	G	G	A	rs531245611		TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr22:46859976G>A	ENST00000262738.3	-	2	3810	c.3811C>T	c.(3811-3813)Cgc>Tgc	p.R1271C	CELSR1_ENST00000395964.1_Missense_Mutation_p.R1271C	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1271					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)		AACTGGCCGCGGACGCCGCCA	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		17316	0.0		0.001	False		,,,				2504	0.0					ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(3811-3813)Cgc>Tgc		cadherin, EGF LAG seven-pass G-type receptor 1							68.0	68.0	68.0					22																	46859976		2203	4300	6503	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46859976G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.3811C>T	22.37:g.46859976G>A	ENSP00000262738:p.Arg1271Cys					CELSR1_ENST00000395964.1_Missense_Mutation_p.R1271C	p.R1271C	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	2	3810	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1271					O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.3811C>T	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196741	0.58126	.	.	ENSG00000075275	ENST00000262738;ENST00000395964	T;T	0.70045	-0.45;-0.19	4.52	4.52	0.55395	.	0.241876	0.30311	U	0.009910	T	0.68366	0.2993	L	0.29908	0.895	0.18873	N	0.999984	D	0.76494	0.999	P	0.55871	0.786	T	0.64428	-0.6410	10	0.54805	T	0.06	.	16.8789	0.86058	0.0:0.0:1.0:0.0	.	1271	Q9NYQ6	CELR1_HUMAN	C	1271	ENSP00000262738:R1271C;ENSP00000379293:R1271C	ENSP00000262738:R1271C	R	-	1	0	CELSR1	45238640	0.993000	0.37304	0.332000	0.25469	0.843000	0.47879	4.939000	0.63526	2.054000	0.61138	0.655000	0.94253	CGC		0.627	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		23	79	0	0	0	1	0	23	79				
FARSB	10056	broad.mit.edu	37	2	223504411	223504411	+	Missense_Mutation	SNP	C	C	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr2:223504411C>A	ENST00000281828.6	-	5	606	c.343G>T	c.(343-345)Gct>Tct	p.A115S	FARSB_ENST00000536361.1_Missense_Mutation_p.A16S	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	115					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	CGTATCTTAGCTGTCTGAAAT	0.363																																						ENST00000281828.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(343-345)Gct>Tct		phenylalanyl-tRNA synthetase, beta subunit	L-Phenylalanine(DB00120)						82.0	79.0	80.0					2																	223504411		2203	4300	6503	SO:0001583	missense	10056				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding	g.chr2:223504411C>A	AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	17800	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, beta, cytoplasmic"""	609690	"""phenylalanyl-tRNA synthetase-like, beta subunit"""	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.343G>T	2.37:g.223504411C>A	ENSP00000281828:p.Ala115Ser					FARSB_ENST00000536361.1_Missense_Mutation_p.A16S	p.A115S	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	5	606	-		Renal(207;0.0183)	115					B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Missense_Mutation	SNP	ENST00000281828.6	37	c.343G>T	CCDS2454.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.865354	0.51588	.	.	ENSG00000116120	ENST00000281828;ENST00000536361	.	.	.	6.08	6.08	0.98989	.	0.090018	0.85682	D	0.000000	T	0.55000	0.1893	L	0.42744	1.35	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.003;0.004	T	0.53933	-0.8368	9	0.07030	T	0.85	-14.357	20.6634	0.99662	0.0:1.0:0.0:0.0	.	115;115	A8K666;Q9NSD9	.;SYFB_HUMAN	S	115;16	.	ENSP00000281828:A115S	A	-	1	0	FARSB	223212655	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.632000	0.67819	2.894000	0.99253	0.655000	0.94253	GCT		0.363	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256855.2	NM_005687		22	13	1	0	4.35082e-09	1	4.60332e-09	22	13				
GLG1	2734	broad.mit.edu	37	16	74526880	74526880	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr16:74526880C>T	ENST00000422840.2	-	7	1208	c.1209G>A	c.(1207-1209)atG>atA	p.M403I	GLG1_ENST00000205061.5_Missense_Mutation_p.M403I|GLG1_ENST00000447066.2_Missense_Mutation_p.M392I	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	403					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						ACTCCAGGCACATTAACAAGT	0.383																																						ENST00000422840.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						c.(1207-1209)atG>atA		golgi glycoprotein 1							84.0	73.0	77.0					16																	74526880		2198	4300	6498	SO:0001583	missense	2734					Golgi membrane|integral to membrane	receptor binding	g.chr16:74526880C>T		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.1209G>A	16.37:g.74526880C>T	ENSP00000405984:p.Met403Ile					GLG1_ENST00000205061.5_Missense_Mutation_p.M403I|GLG1_ENST00000447066.2_Missense_Mutation_p.M392I	p.M403I	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN			7	1208	-			403					B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	ENST00000422840.2	37	c.1209G>A	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.749630	0.49257	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.63	5.63	0.86233	.	0.049510	0.85682	D	0.000000	T	0.50446	0.1616	N	0.14661	0.345	0.50313	D	0.999863	B;B;B	0.21821	0.024;0.061;0.01	B;B;B	0.23275	0.035;0.045;0.01	T	0.44892	-0.9298	9	0.51188	T	0.08	-2.0866	20.0442	0.97604	0.0:1.0:0.0:0.0	.	403;403;392	Q92896;Q92896-2;B7Z8Y4	GSLG1_HUMAN;.;.	I	403;392;403	.	ENSP00000205061:M403I	M	-	3	0	GLG1	73084381	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	2.371000	0.44248	2.814000	0.96858	0.655000	0.94253	ATG		0.383	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		19	46	0	0	0	1	0	19	46				
C2CD5	9847	broad.mit.edu	37	12	22680748	22680748	+	Missense_Mutation	SNP	T	T	G			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr12:22680748T>G	ENST00000333957.4	-	4	511	c.256A>C	c.(256-258)Att>Ctt	p.I86L	C2CD5_ENST00000544930.1_5'UTR|C2CD5_ENST00000540703.1_5'Flank|C2CD5_ENST00000542676.1_Missense_Mutation_p.I86L|C2CD5_ENST00000396028.2_Missense_Mutation_p.I86L|C2CD5_ENST00000446597.1_Missense_Mutation_p.I86L|C2CD5_ENST00000536386.1_Missense_Mutation_p.I86L|C2CD5_ENST00000545552.1_Missense_Mutation_p.I86L	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	86	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										ACTTTACCAATGGCATCATTT	0.363																																						ENST00000333957.4																			0											c.(256-258)Att>Ctt		C2 calcium-dependent domain containing 5							170.0	152.0	158.0					12																	22680748		2203	4300	6503	SO:0001583	missense	9847							g.chr12:22680748T>G	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.256A>C	12.37:g.22680748T>G	ENSP00000334229:p.Ile86Leu					C2CD5_ENST00000536386.1_Missense_Mutation_p.I86L|C2CD5_ENST00000544930.1_5'UTR|C2CD5_ENST00000545552.1_Missense_Mutation_p.I86L|C2CD5_ENST00000542676.1_Missense_Mutation_p.I86L|C2CD5_ENST00000446597.1_Missense_Mutation_p.I86L|C2CD5_ENST00000396028.2_Missense_Mutation_p.I86L	p.I86L	NM_014802.1	NP_055617.1					4	511	-								B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	c.256A>C	CCDS31758.1	.	.	.	.	.	.	.	.	.	.	T	31	5.080531	0.94050	.	.	ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552	T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36	5.48	5.48	0.80851	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.77685	0.4167	L	0.49256	1.55	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.995;0.999;0.991;0.999	D;D;D;D;D	0.83275	0.99;0.961;0.99;0.976;0.996	T	0.78214	-0.2291	10	0.49607	T	0.09	-24.081	15.5812	0.76445	0.0:0.0:0.0:1.0	.	86;86;86;86;86	F5H2A1;B4DRN7;B7ZLL0;Q86YS7-2;Q86YS7	.;.;.;.;K0528_HUMAN	L	86	ENSP00000334229:I86L;ENSP00000388756:I86L;ENSP00000439392:I86L;ENSP00000379345:I86L;ENSP00000441951:I86L;ENSP00000443204:I86L	ENSP00000334229:I86L	I	-	1	0	KIAA0528	22572015	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.026000	0.88783	2.094000	0.63399	0.459000	0.35465	ATT		0.363	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		93	86	0	0	0	1	0	93	86				
SLC22A7	10864	broad.mit.edu	37	6	43269995	43269995	+	Silent	SNP	G	G	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr6:43269995G>A	ENST00000372585.5	+	8	1214	c.1119G>A	c.(1117-1119)ctG>ctA	p.L373L	SLC22A7_ENST00000372589.3_Silent_p.L371L|SLC22A7_ENST00000372574.3_Silent_p.L371L	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	373					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GGCTGGGGCTGAACGTGTACC	0.597																																						ENST00000372585.5																			0				NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26						c.(1117-1119)ctG>ctA		solute carrier family 22 (organic anion transporter), member 7							120.0	105.0	110.0					6																	43269995		2203	4300	6503	SO:0001819	synonymous_variant	10864					basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	g.chr6:43269995G>A	AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"""Solute carriers"""	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.1119G>A	6.37:g.43269995G>A						SLC22A7_ENST00000372574.3_Silent_p.L371L|SLC22A7_ENST00000372589.3_Silent_p.L371L	p.L373L	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		8	1214	+			373					B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Silent	SNP	ENST00000372585.5	37	c.1119G>A	CCDS4893.2																																																																																				0.597	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1			19	48	0	0	0	1	0	19	48				
MAP3K2	10746	broad.mit.edu	37	2	128075777	128075777	+	Nonsense_Mutation	SNP	G	G	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr2:128075777G>A	ENST00000409947.1	-	13	1444	c.1162C>T	c.(1162-1164)Caa>Taa	p.Q388*	RNU6-1147P_ENST00000363380.1_RNA|MAP3K2_ENST00000344908.5_Nonsense_Mutation_p.Q388*			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	388	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)	Bosutinib(DB06616)	GGGTCAAATTGAACTTGCTTA	0.383																																						ENST00000409947.1																			0				central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7						c.(1162-1164)Caa>Taa		mitogen-activated protein kinase kinase kinase 2							119.0	117.0	117.0					2																	128075777		1860	4089	5949	SO:0001587	stop_gained	10746				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding	g.chr2:128075777G>A	AF111105	CCDS46404.1	2q21.1	2011-06-09			ENSG00000169967	ENSG00000169967		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6854	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 2"""	609487		MEKK2		8621389, 10085062	Standard	NM_006609		Approved	MEKK2B	uc002toj.2	Q9Y2U5	OTTHUMG00000153397	ENST00000409947.1:c.1162C>T	2.37:g.128075777G>A	ENSP00000387246:p.Gln388*					MAP3K2_ENST00000344908.5_Nonsense_Mutation_p.Q388*	p.Q388*			Q9Y2U5	M3K2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0706)	13	1444	-	Colorectal(110;0.1)		388			Protein kinase.		B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3	Nonsense_Mutation	SNP	ENST00000409947.1	37	c.1162C>T	CCDS46404.1	.	.	.	.	.	.	.	.	.	.	G	38	6.720792	0.97788	.	.	ENSG00000169967	ENST00000409947;ENST00000344908	.	.	.	5.69	5.69	0.88448	.	0.108992	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	19.8822	0.96903	0.0:0.0:1.0:0.0	.	.	.	.	X	388	.	ENSP00000343463:Q388X	Q	-	1	0	MAP3K2	127792247	1.000000	0.71417	0.994000	0.49952	0.510000	0.34073	9.760000	0.98935	2.693000	0.91896	0.585000	0.79938	CAA		0.383	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331014.1	NM_006609		32	126	0	0	0	1	0	32	126				
ZNF672	79894	broad.mit.edu	37	1	249142661	249142661	+	Missense_Mutation	SNP	G	G	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr1:249142661G>T	ENST00000306562.3	+	4	1934	c.1188G>T	c.(1186-1188)gaG>gaT	p.E396D		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	396					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GGCCAGCGGAGTGCGCAGAGT	0.677																																						ENST00000306562.3																			0				endometrium(2)|kidney(2)|large_intestine(1)	5						c.(1186-1188)gaG>gaT		zinc finger protein 672							19.0	18.0	19.0					1																	249142661		2198	4297	6495	SO:0001583	missense	79894				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:249142661G>T	AK027476	CCDS1638.1	1q44	2013-01-08			ENSG00000171161	ENSG00000171161		"""Zinc fingers, C2H2-type"""	26179	protein-coding gene	gene with protein product	"""hypothetical protein FLJ22301"""					12477932	Standard	NM_024836		Approved	FLJ22301	uc001iex.3	Q499Z4	OTTHUMG00000040377	ENST00000306562.3:c.1188G>T	1.37:g.249142661G>T	ENSP00000421915:p.Glu396Asp						p.E396D	NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		4	1934	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	396					Q96H65|Q96IM3|Q9H6G5	Missense_Mutation	SNP	ENST00000306562.3	37	c.1188G>T	CCDS1638.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.690848	0.48097	.	.	ENSG00000171161	ENST00000306562	T	0.22134	1.97	3.48	-0.238	0.13055	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.209202	0.23477	U	0.047750	T	0.14141	0.0342	L	0.47078	1.49	0.20703	N	0.999861	B	0.31413	0.322	B	0.26202	0.067	T	0.17077	-1.0381	9	.	.	.	.	7.4337	0.27143	0.1291:0.1702:0.7007:0.0	.	396	Q499Z4	ZN672_HUMAN	D	396	ENSP00000421915:E396D	.	E	+	3	2	ZNF672	247109284	0.000000	0.05858	0.007000	0.13788	0.498000	0.33706	-0.650000	0.05378	-0.166000	0.10890	0.561000	0.74099	GAG		0.677	ZNF672-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097125.2	NM_024836		14	19	1	0	4.3838e-07	1	4.53695e-07	14	19				
DNAJC14	85406	broad.mit.edu	37	12	56221719	56221719	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr12:56221719C>T	ENST00000357606.3	-	3	1013	c.724G>A	c.(724-726)Gag>Aag	p.E242K	DNAJC14_ENST00000317269.3_Missense_Mutation_p.E242K|RP11-762I7.5_ENST00000546837.1_5'Flank|TMEM198B_ENST00000478241.1_RNA|DNAJC14_ENST00000317287.5_Missense_Mutation_p.E242K			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	242					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						CATAGTTCCTCGGCTCCCCAC	0.557																																						ENST00000357606.3																			0				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						c.(724-726)Gag>Aag		DnaJ (Hsp40) homolog, subfamily C, member 14							70.0	61.0	64.0					12																	56221719		2203	4300	6503	SO:0001583	missense	85406				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:56221719C>T	AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.724G>A	12.37:g.56221719C>T	ENSP00000350223:p.Glu242Lys					DNAJC14_ENST00000317287.5_Missense_Mutation_p.E242K|DNAJC14_ENST00000317269.3_Missense_Mutation_p.E242K	p.E242K			Q6Y2X3	DJC14_HUMAN			3	1013	-			242					A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Missense_Mutation	SNP	ENST00000357606.3	37	c.724G>A	CCDS8894.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.534563	0.45073	.	.	ENSG00000135392	ENST00000357606;ENST00000317269;ENST00000317287	T;T;T	0.36157	1.27;1.27;1.27	5.17	3.21	0.36854	.	0.374838	0.27311	N	0.019944	T	0.17023	0.0409	N	0.19112	0.55	0.29060	N	0.883981	P;P	0.34587	0.458;0.458	B;B	0.22753	0.041;0.025	T	0.09443	-1.0674	9	.	.	.	-14.7515	7.1696	0.25710	0.0:0.6204:0.2869:0.0927	.	242;242	Q6Y2X3;A8K5A7	DJC14_HUMAN;.	K	242	ENSP00000350223:E242K;ENSP00000316240:E242K;ENSP00000317500:E242K	.	E	-	1	0	DNAJC14	54507986	0.936000	0.31750	0.951000	0.38953	0.227000	0.25037	0.932000	0.28884	1.302000	0.44855	0.650000	0.86243	GAG		0.557	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1	NM_032364		27	50	0	0	0	1	0	27	50				
PML	5371	broad.mit.edu	37	15	74327717	74327717	+	Intron	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr15:74327717C>T	ENST00000268058.3	+	7	1806				PML_ENST00000359928.4_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000565898.1_Intron|PML_ENST00000563500.1_3'UTR|PML_ENST00000569477.1_3'UTR|PML_ENST00000436891.3_3'UTR|PML_ENST00000569965.1_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000354026.6_Missense_Mutation_p.H591Y|PML_ENST00000435786.2_3'UTR|PML_ENST00000395132.2_Intron|PML_ENST00000268059.6_Missense_Mutation_p.H639Y	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						TGCTGAGCCTCACAGCGAGCC	0.667			T	"""RARA, PAX5"""	"""APL, ALL"""																																	ENST00000268059.6				Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	"""RARA, PAX5"""		"""APL, ALL"""		0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						c.(1915-1917)Cac>Tac		promyelocytic leukemia							61.0	60.0	60.0					15																	74327717		2198	4297	6495	SO:0001627	intron_variant	5371				cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr15:74327717C>T	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1710+846C>T	15.37:g.74327717C>T						PML_ENST00000569965.1_Intron|PML_ENST00000569477.1_3'UTR|PML_ENST00000564428.1_Intron|PML_ENST00000436891.3_3'UTR|PML_ENST00000354026.6_Missense_Mutation_p.H591Y|PML_ENST00000395132.2_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000435786.2_3'UTR|PML_ENST00000359928.4_Intron|PML_ENST00000565898.1_Intron|PML_ENST00000268058.3_Intron|PML_ENST00000563500.1_3'UTR	p.H639Y	NM_033239.2|NM_033244.3	NP_150242.1|NP_150247.2	P29590	PML_HUMAN			8	2011	+			36					E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	ENST00000268058.3	37	c.1915C>T	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	C	9.528	1.109990	0.20714	.	.	ENSG00000140464	ENST00000268059;ENST00000354026	.	.	.	3.36	1.37	0.22104	.	.	.	.	.	T	0.16085	0.0387	N	0.08118	0	0.09310	N	1	B;B	0.27068	0.167;0.167	B;B	0.22753	0.041;0.041	T	0.17561	-1.0365	8	0.42905	T	0.14	.	4.0898	0.09963	0.0:0.6129:0.2462:0.1409	.	591;639	P29590-13;P29590-8	.;.	Y	639;591	.	ENSP00000268059:H639Y	H	+	1	0	PML	72114770	0.020000	0.18652	0.013000	0.15412	0.021000	0.10359	0.069000	0.14552	0.373000	0.24621	0.561000	0.74099	CAC		0.667	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		54	63	0	0	0	1	0	54	63				
CPM	1368	broad.mit.edu	37	12	69263255	69263255	+	Nonsense_Mutation	SNP	G	G	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr12:69263255G>A	ENST00000551568.1	-	6	697	c.637C>T	c.(637-639)Cga>Tga	p.R213*	CPM_ENST00000546373.1_Nonsense_Mutation_p.R213*|CPM_ENST00000338356.3_Nonsense_Mutation_p.R213*	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	213					anatomical structure morphogenesis (GO:0009653)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			GTTAAGCTTCGGGAGTATAAT	0.373																																						ENST00000551568.1																			0				large_intestine(1)|lung(6)|prostate(2)	9						c.(637-639)Cga>Tga		carboxypeptidase M							117.0	112.0	114.0					12																	69263255		2203	4300	6503	SO:0001587	stop_gained	1368				anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding	g.chr12:69263255G>A	AF368463	CCDS8987.1	12q15	2012-02-10			ENSG00000135678	ENSG00000135678	3.4.17.12		2311	protein-coding gene	gene with protein product	"""renal carboxypeptidase"", ""urinary carboxypeptidase B"""	114860				8586455	Standard	NM_001874		Approved		uc001suq.3	P14384	OTTHUMG00000169300	ENST00000551568.1:c.637C>T	12.37:g.69263255G>A	ENSP00000448517:p.Arg213*					CPM_ENST00000338356.3_Nonsense_Mutation_p.R213*|CPM_ENST00000546373.1_Nonsense_Mutation_p.R213*	p.R213*	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		6	697	-	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		213					B2R800|Q9H2K9	Nonsense_Mutation	SNP	ENST00000551568.1	37	c.637C>T	CCDS8987.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.834931	0.71373	.	.	ENSG00000135678	ENST00000551568;ENST00000338356;ENST00000546373;ENST00000548954	.	.	.	5.42	5.42	0.78866	.	0.491076	0.22358	N	0.061115	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.1899	9.9722	0.41761	0.0974:0.0:0.9026:0.0	.	.	.	.	X	213	.	.	R	-	1	2	CPM	67549522	0.926000	0.31397	0.138000	0.22173	0.038000	0.13279	2.902000	0.48703	2.715000	0.92844	0.655000	0.94253	CGA		0.373	CPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403355.1	NM_198320		34	54	0	0	0	1	0	34	54				
NBPF1	55672	broad.mit.edu	37	1	16890647	16890647	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr1:16890647C>T	ENST00000430580.2	-	29	4098	c.3211G>A	c.(3211-3213)Gaa>Aaa	p.E1071K		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1051	NBPF 7. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TGCAAGACTTCAGGCTCTTCC	0.463																																						ENST00000430580.2																			0											c.(3211-3213)Gaa>Aaa		neuroblastoma breakpoint family, member 1							447.0	360.0	390.0					1																	16890647		2203	4299	6502	SO:0001583	missense	55672					cytoplasm		g.chr1:16890647C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.3211G>A	1.37:g.16890647C>T	ENSP00000474456:p.Glu1071Lys						p.E1071K	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	29	4098	-			1051			NBPF 7.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.3211G>A																																																																																					0.463	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		68	675	0	0	0	1	0	68	675				
ZKSCAN8	7745	broad.mit.edu	37	6	28120136	28120136	+	Missense_Mutation	SNP	A	A	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr6:28120136A>T	ENST00000330236.6	+	5	933	c.749A>T	c.(748-750)gAa>gTa	p.E250V	ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.E250V	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2	Q15776	ZKSC8_HUMAN	zinc finger with KRAB and SCAN domains 8	250	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)										AACAGGCCAGAAAATTTCAGA	0.393																																						ENST00000330236.6																			0											c.(748-750)gAa>gTa		zinc finger with KRAB and SCAN domains 8							153.0	154.0	154.0					6																	28120136		2203	4300	6503	SO:0001583	missense	7745							g.chr6:28120136A>T		CCDS4645.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000198315	ENSG00000198315		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12983	protein-coding gene	gene with protein product		602240	"""zinc finger protein 192"""	ZNF192			Standard	NM_001278119		Approved	LD5-1, ZSCAN40	uc003nkn.2	Q15776	OTTHUMG00000014510	ENST00000330236.6:c.749A>T	6.37:g.28120136A>T	ENSP00000332750:p.Glu250Val					ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.E250V	p.E250V	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2					5	933	+								A1L3D4|B4DYF1|Q4VAR1|Q4VAR2|Q4VAR3|Q9H4T1	Missense_Mutation	SNP	ENST00000330236.6	37	c.749A>T	CCDS4645.1	.	.	.	.	.	.	.	.	.	.	A	19.39	3.819175	0.71028	.	.	ENSG00000198315	ENST00000330236;ENST00000457389	T;T	0.04551	3.6;3.6	5.32	5.32	0.75619	Krueppel-associated box (4);	0.000000	0.56097	D	0.000021	T	0.27765	0.0683	H	0.97611	4.04	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.49579	-0.8925	10	0.87932	D	0	.	14.9553	0.71107	1.0:0.0:0.0:0.0	.	250	Q15776	ZN192_HUMAN	V	250	ENSP00000332750:E250V;ENSP00000402948:E250V	ENSP00000332750:E250V	E	+	2	0	ZNF192	28228115	1.000000	0.71417	0.974000	0.42286	0.558000	0.35554	2.175000	0.42491	2.317000	0.78254	0.460000	0.39030	GAA		0.393	ZKSCAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040178.2			37	74	0	0	0	1	0	37	74				
LCT	3938	broad.mit.edu	37	2	136581548	136581548	+	Missense_Mutation	SNP	A	A	G			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr2:136581548A>G	ENST00000264162.2	-	4	840	c.830T>C	c.(829-831)tTc>tCc	p.F277S	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	277	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GTTGAAGATGAAAACTTTCAC	0.473																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(829-831)tTc>tCc		lactase							118.0	113.0	114.0					2																	136581548		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136581548A>G	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.830T>C	2.37:g.136581548A>G	ENSP00000264162:p.Phe277Ser						p.F277S	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	4	840	-			277			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.830T>C	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.931732	0.52866	.	.	ENSG00000115850	ENST00000264162	T	0.29655	1.56	5.35	5.35	0.76521	.	0.107076	0.43747	D	0.000524	T	0.28830	0.0715	L	0.56769	1.78	0.32455	N	0.544865	P	0.39665	0.682	B	0.34489	0.184	T	0.50474	-0.8824	10	0.56958	D	0.05	-26.4769	11.6631	0.51358	1.0:0.0:0.0:0.0	.	277	P09848	LPH_HUMAN	S	277	ENSP00000264162:F277S	ENSP00000264162:F277S	F	-	2	0	LCT	136298018	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	4.969000	0.63735	2.250000	0.74265	0.454000	0.30748	TTC		0.473	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		32	13	0	0	0	1	0	32	13				
TRPM2	7226	broad.mit.edu	37	21	45821664	45821664	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr21:45821664G>A	ENST00000397928.1	+	16	2867	c.2422G>A	c.(2422-2424)Gcc>Acc	p.A808T	TRPM2_ENST00000300481.9_Missense_Mutation_p.A788T|TRPM2_ENST00000397932.2_Missense_Mutation_p.A808T|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.A808T	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	808					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CTCCTACTTCGCCTTCCTCTG	0.632																																						ENST00000397928.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(2422-2424)Gcc>Acc		transient receptor potential cation channel, subfamily M, member 2							365.0	289.0	315.0					21																	45821664		2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45821664G>A	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.2422G>A	21.37:g.45821664G>A	ENSP00000381023:p.Ala808Thr					TRPM2_ENST00000300482.5_Missense_Mutation_p.A808T|TRPM2_ENST00000397932.2_Missense_Mutation_p.A808T|TRPM2_ENST00000300481.9_Missense_Mutation_p.A788T|TRPM2_ENST00000498430.1_3'UTR	p.A808T	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			16	2867	+			808					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.2422G>A	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.272291	0.40194	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	4.61	-0.173	0.13322	.	0.906802	0.09393	N	0.808347	T	0.40743	0.1129	L	0.35542	1.07	0.25321	N	0.989114	B;B;B	0.27286	0.174;0.106;0.106	B;B;B	0.14578	0.011;0.011;0.011	T	0.17899	-1.0354	10	0.16420	T	0.52	-9.7029	3.0604	0.06197	0.2818:0.0:0.3747:0.3435	.	808;594;808	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	T	808;808;788;808	ENSP00000300482:A808T;ENSP00000381023:A808T;ENSP00000300481:A788T;ENSP00000381026:A808T	ENSP00000300481:A788T	A	+	1	0	TRPM2	44646092	0.003000	0.15002	0.936000	0.37596	0.868000	0.49771	0.396000	0.20867	0.109000	0.17891	0.423000	0.28283	GCC		0.632	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		129	47	0	0	0	1	0	129	47				
IL7	3574	broad.mit.edu	37	8	79646064	79646064	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr8:79646064C>G	ENST00000263851.4	-	6	1018	c.418G>C	c.(418-420)Gaa>Caa	p.E140Q	IL7_ENST00000520269.1_Missense_Mutation_p.E96Q|IL7_ENST00000519833.1_Intron|IL7_ENST00000541183.1_Missense_Mutation_p.E27Q	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	P13232	IL7_HUMAN	interleukin 7	140					bone resorption (GO:0045453)|cell-cell signaling (GO:0007267)|homeostasis of number of cells within a tissue (GO:0048873)|humoral immune response (GO:0006959)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|organ morphogenesis (GO:0009887)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell differentiation (GO:0045582)|regulation of gene expression (GO:0010468)|T cell lineage commitment (GO:0002360)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|interleukin-7 receptor binding (GO:0005139)			endometrium(2)|large_intestine(2)|lung(1)	5						GATTTATTTTCTTCCTAGAGA	0.229																																						ENST00000263851.4																			0				endometrium(2)|large_intestine(2)|lung(1)	5						c.(418-420)Gaa>Caa		interleukin 7							45.0	49.0	48.0					8																	79646064		2198	4290	6488	SO:0001583	missense	3574				bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding	g.chr8:79646064C>G	J04156	CCDS6224.1, CCDS56541.1, CCDS75755.1, CCDS75756.1	8q12-q13	2008-07-03				ENSG00000104432		"""Interleukins and interleukin receptors"""	6023	protein-coding gene	gene with protein product		146660					Standard	NM_000880		Approved	IL-7	uc003ybg.3	P13232		ENST00000263851.4:c.418G>C	8.37:g.79646064C>G	ENSP00000263851:p.Glu140Gln					IL7_ENST00000519833.1_Intron|IL7_ENST00000541183.1_Missense_Mutation_p.E27Q|IL7_ENST00000520269.1_Missense_Mutation_p.E96Q	p.E140Q	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	P13232	IL7_HUMAN			6	1018	-			140					A0N0L3|Q5FBY5|Q5FBY9	Missense_Mutation	SNP	ENST00000263851.4	37	c.418G>C	CCDS6224.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223463	0.58668	.	.	ENSG00000104432	ENST00000263851;ENST00000520269;ENST00000379114;ENST00000541183	T;T;T	0.49139	0.79;0.79;0.79	5.0	5.0	0.66597	.	0.240132	0.29737	N	0.011336	T	0.54334	0.1852	L	0.29908	0.895	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.71870	0.975;0.975	T	0.47005	-0.9150	9	.	.	.	.	13.9761	0.64275	0.0:1.0:0.0:0.0	.	140;96	P13232;Q5FBY9	IL7_HUMAN;.	Q	140;96;93;27	ENSP00000263851:E140Q;ENSP00000427750:E96Q;ENSP00000438922:E27Q	.	E	-	1	0	IL7	79808619	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	2.997000	0.49457	2.762000	0.94881	0.655000	0.94253	GAA		0.229	IL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379429.1			12	73	0	0	0	1	0	12	73				
PCDHA12	56137	broad.mit.edu	37	5	140255239	140255239	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr5:140255239C>T	ENST00000398631.2	+	1	182	c.182C>T	c.(181-183)cCg>cTg	p.P61L	PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	61	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)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCTGGTGCCGCGCCTGTTC	0.612																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(181-183)cCg>cTg									38.0	47.0	44.0					5																	140255239		2200	4289	6489	SO:0001583	missense	56137							g.chr5:140255239C>T	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.182C>T	5.37:g.140255239C>T	ENSP00000381628:p.Pro61Leu					PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron	p.P61L	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	182	+								O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.182C>T	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.196165	0.58126	.	.	ENSG00000251664	ENST00000398631	T	0.26660	1.72	5.18	4.32	0.51571	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.41259	0.1151	M	0.66506	2.035	0.26811	N	0.968998	D;D	0.69078	0.958;0.997	B;P	0.53912	0.406;0.737	T	0.29701	-1.0003	9	0.62326	D	0.03	.	13.1316	0.59385	0.0:0.9217:0.0:0.0783	.	61;61	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	L	61	ENSP00000381628:P61L	ENSP00000381628:P61L	P	+	2	0	PCDHA12	140235423	0.000000	0.05858	0.991000	0.47740	0.722000	0.41435	-0.136000	0.10405	1.189000	0.43028	0.591000	0.81541	CCG		0.612	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		62	70	0	0	0	1	0	62	70				
PML	5371	broad.mit.edu	37	15	74328064	74328064	+	Intron	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr15:74328064C>T	ENST00000268058.3	+	7	1806				PML_ENST00000359928.4_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000565898.1_Intron|PML_ENST00000563500.1_3'UTR|PML_ENST00000436891.3_3'UTR|PML_ENST00000569965.1_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000354026.6_Silent_p.F706F|PML_ENST00000435786.2_3'UTR|PML_ENST00000395132.2_Intron|PML_ENST00000268059.6_Silent_p.F754F	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CCCTCCCCTTCTCCTCCATGG	0.622			T	"""RARA, PAX5"""	"""APL, ALL"""																																	ENST00000268059.6				Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	"""RARA, PAX5"""		"""APL, ALL"""		0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						c.(2260-2262)ttC>ttT		promyelocytic leukemia							50.0	58.0	55.0					15																	74328064		2198	4297	6495	SO:0001627	intron_variant	5371				cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr15:74328064C>T	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1710+1193C>T	15.37:g.74328064C>T						PML_ENST00000569965.1_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000436891.3_3'UTR|PML_ENST00000354026.6_Silent_p.F706F|PML_ENST00000395132.2_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000435786.2_3'UTR|PML_ENST00000359928.4_Intron|PML_ENST00000565898.1_Intron|PML_ENST00000268058.3_Intron|PML_ENST00000563500.1_3'UTR	p.F754F	NM_033239.2|NM_033244.3	NP_150242.1|NP_150247.2	P29590	PML_HUMAN			8	2358	+			0					E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Silent	SNP	ENST00000268058.3	37	c.2262C>T	CCDS10255.1																																																																																				0.622	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		45	70	0	0	0	1	0	45	70				
SPHKAP	80309	broad.mit.edu	37	2	228881810	228881810	+	Missense_Mutation	SNP	G	G	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr2:228881810G>T	ENST00000392056.3	-	7	3806	c.3760C>A	c.(3760-3762)Ccc>Acc	p.P1254T	SPHKAP_ENST00000344657.5_Missense_Mutation_p.P1254T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1254						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCTTTGATGGGCACATTCACT	0.567																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(3760-3762)Ccc>Acc		SPHK1 interactor, AKAP domain containing							65.0	62.0	63.0					2																	228881810		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228881810G>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3760C>A	2.37:g.228881810G>T	ENSP00000375909:p.Pro1254Thr					SPHKAP_ENST00000344657.5_Missense_Mutation_p.P1254T	p.P1254T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	3806	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1254					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.3760C>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378529	0.61735	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.15834	2.42;2.39	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.43809	0.1264	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.03374	-1.1043	10	0.35671	T	0.21	.	19.4315	0.94772	0.0:0.0:1.0:0.0	.	285;1254;1254	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	T	1254	ENSP00000375909:P1254T;ENSP00000339886:P1254T	ENSP00000339886:P1254T	P	-	1	0	SPHKAP	228590054	1.000000	0.71417	0.214000	0.23707	0.586000	0.36452	9.096000	0.94182	2.838000	0.97847	0.655000	0.94253	CCC		0.567	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		40	23	1	0	7.04047e-22	1	7.7609e-22	40	23				
PEG3	5178	broad.mit.edu	37	19	57325583	57325583	+	Silent	SNP	A	A	G			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr19:57325583A>G	ENST00000326441.9	-	10	4590	c.4227T>C	c.(4225-4227)gcT>gcC	p.A1409A	PEG3_ENST00000598410.1_Silent_p.A1285A|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Silent_p.A1409A|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Silent_p.A1283A|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1409	3 X 7 AA repeat of P-E-V-E-A-A-E.|Glu-rich.				apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTTCTGGCTCAGCAGCCTCCA	0.577																																						ENST00000326441.9																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(4225-4227)gcT>gcC		paternally expressed 3							44.0	47.0	46.0					19																	57325583		2201	4291	6492	SO:0001819	synonymous_variant	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57325583A>G	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.4227T>C	19.37:g.57325583A>G						ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.A1409A|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Silent_p.A1283A|PEG3_ENST00000598410.1_Silent_p.A1285A	p.A1409A	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	4590	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1409			3 X 7 AA repeat of P-E-V-E-A-A-E.|Glu-rich.		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	c.4227T>C	CCDS12948.1																																																																																				0.577	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			5	82	0	0	0	1	0	5	82				
OR1J4	26219	broad.mit.edu	37	9	125281665	125281665	+	Silent	SNP	A	A	G			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr9:125281665A>G	ENST00000340750.1	+	1	246	c.246A>G	c.(244-246)ttA>ttG	p.L82L		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						CAAAGATGTTATTAAGCATGC	0.428																																						ENST00000340750.1																			0				large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						c.(244-246)ttA>ttG		olfactory receptor, family 1, subfamily J, member 4							252.0	227.0	235.0					9																	125281665		2203	4300	6503	SO:0001819	synonymous_variant	26219				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125281665A>G	X64979	CCDS35122.1	9q33.2	2013-09-20			ENSG00000239590	ENSG00000239590		"""GPCR / Class A : Olfactory receptors"""	8211	protein-coding gene	gene with protein product						1370859	Standard	NM_001004452		Approved	HTPCRX01, HSHTPCRX01	uc011lyw.2	Q8NGS1	OTTHUMG00000020606	ENST00000340750.1:c.246A>G	9.37:g.125281665A>G							p.L82L	NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN			1	246	+			82					A3KFM0|Q6IEZ3|Q96R89	Silent	SNP	ENST00000340750.1	37	c.246A>G	CCDS35122.1																																																																																				0.428	OR1J4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053936.1			75	161	0	0	0	1	0	75	161				
LPHN1	22859	broad.mit.edu	37	19	14270318	14270318	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr19:14270318C>G	ENST00000340736.6	-	11	2230	c.1933G>C	c.(1933-1935)Gtg>Ctg	p.V645L	CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.V640L	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	645					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCCGTGTGCACCTGCTCCGTG	0.637																																						ENST00000340736.6																			0				central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1933-1935)Gtg>Ctg		latrophilin 1							49.0	46.0	47.0					19																	14270318		2203	4300	6503	SO:0001583	missense	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14270318C>G	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.1933G>C	19.37:g.14270318C>G	ENSP00000340688:p.Val645Leu					CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.V640L	p.V645L	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN			11	2230	-			645					Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	c.1933G>C	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.245763	0.22796	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.07908	3.15;3.15	5.13	5.13	0.70059	Domain of unknown function DUF3497 (1);	0.216967	0.38548	N	0.001660	T	0.03434	0.0099	N	0.01874	-0.695	0.29728	N	0.838101	B;B	0.24483	0.104;0.0	B;B	0.25506	0.061;0.01	T	0.21008	-1.0258	10	0.05959	T	0.93	.	16.0866	0.81060	0.0:1.0:0.0:0.0	.	640;645	O94910-2;O94910	.;LPHN1_HUMAN	L	645;640	ENSP00000340688:V645L;ENSP00000355328:V640L	ENSP00000340688:V645L	V	-	1	0	LPHN1	14131318	0.978000	0.34361	1.000000	0.80357	0.996000	0.88848	2.024000	0.41049	2.385000	0.81259	0.561000	0.74099	GTG		0.637	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		8	26	0	0	0	1	0	8	26				
HERPUD2	64224	broad.mit.edu	37	7	35707179	35707179	+	Nonsense_Mutation	SNP	G	G	C			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr7:35707179G>C	ENST00000396081.1	-	4	1163	c.359C>G	c.(358-360)tCa>tGa	p.S120*	HERPUD2_ENST00000311350.3_Nonsense_Mutation_p.S120*|HERPUD2_ENST00000426180.1_5'UTR	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	120	Ser-rich.				response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						TGGAGTTGTTGATCCTGAATG	0.363																																						ENST00000396081.1																			0				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						c.(358-360)tCa>tGa		HERPUD family member 2							93.0	87.0	89.0					7																	35707179		2203	4300	6503	SO:0001587	stop_gained	64224				response to unfolded protein	integral to membrane		g.chr7:35707179G>C	BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"""						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.359C>G	7.37:g.35707179G>C	ENSP00000379390:p.Ser120*					HERPUD2_ENST00000311350.3_Nonsense_Mutation_p.S120*|HERPUD2_ENST00000426180.1_5'UTR	p.S120*	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN			4	1163	-			120			Ser-rich.		A4D1Y8|Q9H6F9	Nonsense_Mutation	SNP	ENST00000396081.1	37	c.359C>G	CCDS5446.1	.	.	.	.	.	.	.	.	.	.	G	42	9.181966	0.99092	.	.	ENSG00000122557	ENST00000396081;ENST00000311350;ENST00000438224;ENST00000413517;ENST00000427455	.	.	.	5.26	5.26	0.73747	.	0.670357	0.15415	N	0.263569	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-9.4242	18.8657	0.92292	0.0:0.0:1.0:0.0	.	.	.	.	X	120;120;56;94;56	.	ENSP00000310729:S120X	S	-	2	0	HERPUD2	35673704	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.956000	0.63645	2.448000	0.82819	0.655000	0.94253	TCA		0.363	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250584.1	NM_022373		5	94	0	0	0	1	0	5	94				
ANKRD28	23243	broad.mit.edu	37	3	15720996	15720996	+	Missense_Mutation	SNP	A	A	C	rs116976698		TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr3:15720996A>C	ENST00000399451.2	-	22	2741	c.2374T>G	c.(2374-2376)Ttg>Gtg	p.L792V	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.L825V	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	792						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						GCACAATGCAATGGACTAAAA	0.383																																						ENST00000399451.2																			0				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						c.(2374-2376)Ttg>Gtg		ankyrin repeat domain 28							103.0	93.0	96.0					3																	15720996		1888	4113	6001	SO:0001583	missense	23243					nucleoplasm	protein binding	g.chr3:15720996A>C	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.2374T>G	3.37:g.15720996A>C	ENSP00000382379:p.Leu792Val					ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.L825V	p.L792V	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN			22	2741	-			792					B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	ENST00000399451.2	37	c.2374T>G	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	A	17.66	3.443464	0.63067	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.80214	-1.35;1.33;-1.35	6.06	2.47	0.30058	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.89015	0.6595	M	0.90369	3.11	0.54753	D	0.999987	D	0.55605	0.972	D	0.64237	0.923	D	0.87630	0.2515	10	0.66056	D	0.02	.	9.2451	0.37520	0.7947:0.0:0.2053:0.0	.	792	O15084	ANR28_HUMAN	V	792;825;792	ENSP00000382379:L792V;ENSP00000373287:L825V;ENSP00000397341:L792V	ENSP00000373287:L825V	L	-	1	2	ANKRD28	15696000	0.997000	0.39634	0.304000	0.25085	0.991000	0.79684	3.244000	0.51399	0.201000	0.20466	0.533000	0.62120	TTG		0.383	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199		20	15	0	0	0	1	0	20	15				
ITPR2	3709	broad.mit.edu	37	12	26568407	26568407	+	Nonsense_Mutation	SNP	C	C	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr12:26568407C>A	ENST00000381340.3	-	51	7551	c.7135G>T	c.(7135-7137)Gag>Tag	p.E2379*	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2379					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	AGCAAAGTCTCTTCCCTGTAC	0.363																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(7135-7137)Gag>Tag		inositol 1,4,5-trisphosphate receptor, type 2							105.0	103.0	103.0					12																	26568407		1830	4081	5911	SO:0001587	stop_gained	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26568407C>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.7135G>T	12.37:g.26568407C>A	ENSP00000370744:p.Glu2379*					RP11-513G19.1_ENST00000535324.1_RNA	p.E2379*	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			51	7551	-	Colorectal(261;0.0847)		2379					O94773	Nonsense_Mutation	SNP	ENST00000381340.3	37	c.7135G>T	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	51	17.967592	0.99897	.	.	ENSG00000123104	ENST00000381340	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	18.6686	0.91501	0.0:1.0:0.0:0.0	.	.	.	.	X	2379	.	ENSP00000370744:E2379X	E	-	1	0	ITPR2	26459674	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.638000	0.83328	2.636000	0.89361	0.591000	0.81541	GAG		0.363	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		4	79	1	0	0.150653	1	0.150653	4	79				
IMPDH1	3614	broad.mit.edu	37	7	128041099	128041099	+	Silent	SNP	C	C	G			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr7:128041099C>G	ENST00000480861.1	-	3	296	c.219G>C	c.(217-219)gtG>gtC	p.V73V	IMPDH1_ENST00000343214.4_Silent_p.V73V|IMPDH1_ENST00000419067.2_Silent_p.V125V|IMPDH1_ENST00000354269.5_Silent_p.V148V|IMPDH1_ENST00000496200.1_Silent_p.V73V|IMPDH1_ENST00000378717.4_Silent_p.V89V|IMPDH1_ENST00000338791.6_Silent_p.V158V|IMPDH1_ENST00000348127.6_Silent_p.V122V|IMPDH1_ENST00000470772.1_Silent_p.V73V	NM_001142574.1	NP_001136046.1			IMP (inosine 5'-monophosphate) dehydrogenase 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						CAGCCTCTGTCACAGTGTCCA	0.602																																						ENST00000338791.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						c.(472-474)gtG>gtC		IMP (inosine 5'-monophosphate) dehydrogenase 1	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)						100.0	85.0	90.0					7																	128041099		2203	4300	6503	SO:0001819	synonymous_variant	3614				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding	g.chr7:128041099C>G		CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"""retinitis pigmentosa 10 (autosomal dominant)"", ""IMP (inosine monophosphate) dehydrogenase 1"""	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000480861.1:c.219G>C	7.37:g.128041099C>G						IMPDH1_ENST00000470772.1_Silent_p.V73V|IMPDH1_ENST00000480861.1_Silent_p.V73V|IMPDH1_ENST00000378717.4_Silent_p.V89V|IMPDH1_ENST00000419067.2_Silent_p.V125V|IMPDH1_ENST00000496200.1_Silent_p.V73V|IMPDH1_ENST00000354269.5_Silent_p.V148V|IMPDH1_ENST00000348127.6_Silent_p.V122V|IMPDH1_ENST00000343214.4_Silent_p.V73V	p.V158V	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN			6	824	-			73			CBS 1.			Silent	SNP	ENST00000480861.1	37	c.474G>C	CCDS55161.1																																																																																				0.602	IMPDH1-009	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000349462.1	NM_000883		20	38	0	0	0	1	0	20	38				
ZBED6CL	113763	broad.mit.edu	37	7	150027948	150027948	+	Missense_Mutation	SNP	A	A	G			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr7:150027948A>G	ENST00000343855.4	+	1	1011	c.455A>G	c.(454-456)cAg>cGg	p.Q152R	LRRC61_ENST00000493307.1_Intron|LRRC61_ENST00000359623.4_Intron|LRRC61_ENST00000323078.7_Intron	NM_138434.2	NP_612443.1	Q96FA7	ZB6CL_HUMAN	ZBED6 C-terminal like	152																	GAGCCTCTGCAGAGCAGCAGC	0.682																																						ENST00000343855.4																			0											c.(454-456)cAg>cGg		ZBED6 C-terminal like							13.0	17.0	16.0					7																	150027948		2199	4282	6481	SO:0001583	missense	113763							g.chr7:150027948A>G	BC011406	CCDS5900.1	7q35	2013-05-03	2013-05-03	2013-05-03	ENSG00000188707	ENSG00000188707			21720	protein-coding gene	gene with protein product		615252	"""chromosome 7 open reading frame 29"""	C7orf29		23533661	Standard	NM_138434		Approved			Q96FA7	OTTHUMG00000158328	ENST00000343855.4:c.455A>G	7.37:g.150027948A>G	ENSP00000343242:p.Gln152Arg					LRRC61_ENST00000323078.7_Intron|LRRC61_ENST00000359623.4_Intron|LRRC61_ENST00000493307.1_Intron	p.Q152R	NM_138434.2	NP_612443.1					1	1011	+									Missense_Mutation	SNP	ENST00000343855.4	37	c.455A>G	CCDS5900.1	.	.	.	.	.	.	.	.	.	.	A	0.792	-0.758343	0.03019	.	.	ENSG00000188707	ENST00000343855	.	.	.	3.75	-0.12	0.13539	.	.	.	.	.	T	0.24044	0.0582	N	0.19112	0.55	0.09310	N	1	B	0.19583	0.037	B	0.16289	0.015	T	0.20207	-1.0282	8	0.27082	T	0.32	.	7.4373	0.27162	0.5675:0.0:0.4325:0.0	.	152	Q96FA7	CG029_HUMAN	R	152	.	ENSP00000343242:Q152R	Q	+	2	0	C7orf29	149658881	0.000000	0.05858	0.001000	0.08648	0.042000	0.13812	-0.444000	0.06854	-0.111000	0.12001	0.456000	0.33151	CAG		0.682	ZBED6CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350702.1	NM_138434		24	24	0	0	0	1	0	24	24				
OAS3	4940	broad.mit.edu	37	12	113384607	113384607	+	Silent	SNP	G	G	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr12:113384607G>A	ENST00000228928.7	+	4	875	c.696G>A	c.(694-696)ctG>ctA	p.L232L	RP1-71H24.1_ENST00000552784.1_RNA|OAS3_ENST00000546638.1_3'UTR	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	232	OAS domain 1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						TGGAATTGCTGACCATCTTCG	0.597																																						ENST00000228928.7																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						c.(694-696)ctG>ctA		2'-5'-oligoadenylate synthetase 3, 100kDa							50.0	55.0	53.0					12																	113384607		2155	4272	6427	SO:0001819	synonymous_variant	4940				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113384607G>A	AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"""2'-5'-oligoadenylate synthetase 3 (100 kD)"""			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.696G>A	12.37:g.113384607G>A						RP1-71H24.1_ENST00000552784.1_RNA|OAS3_ENST00000546638.1_3'UTR	p.L232L	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN			4	875	+			232			OAS domain 1.		Q2HJ14|Q9H3P5	Silent	SNP	ENST00000228928.7	37	c.696G>A	CCDS44981.1																																																																																				0.597	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			12	27	0	0	0	1	0	12	27				
OR8B4	283162	broad.mit.edu	37	11	124294592	124294592	+	Missense_Mutation	SNP	A	A	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr11:124294592A>T	ENST00000356130.3	-	1	197	c.176T>A	c.(175-177)aTg>aAg	p.M59K		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GAAAAAGTACATGGGGGTGTG	0.408																																						ENST00000356130.3																			0				endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32						c.(175-177)aTg>aAg		olfactory receptor, family 8, subfamily B, member 4							82.0	79.0	80.0					11																	124294592		2201	4299	6500	SO:0001583	missense	283162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124294592A>T	AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"""GPCR / Class A : Olfactory receptors"""	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.176T>A	11.37:g.124294592A>T	ENSP00000348449:p.Met59Lys						p.M59K	NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	197	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	59					B2RNF8|Q6IFQ7	Missense_Mutation	SNP	ENST00000356130.3	37	c.176T>A	CCDS31710.1	.	.	.	.	.	.	.	.	.	.	a	23.0	4.361620	0.82353	.	.	ENSG00000198657	ENST00000356130	T	0.09911	2.93	4.5	4.5	0.54988	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000004	T	0.41119	0.1145	H	0.97682	4.055	0.53688	D	0.999977	D	0.56968	0.978	P	0.55260	0.772	T	0.63256	-0.6678	10	0.87932	D	0	.	13.9222	0.63940	1.0:0.0:0.0:0.0	.	59	Q96RC9	OR8B4_HUMAN	K	59	ENSP00000348449:M59K	ENSP00000348449:M59K	M	-	2	0	OR8B4	123799802	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	6.868000	0.75516	2.026000	0.59711	0.533000	0.62120	ATG		0.408	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387055.1	NM_001005196		39	12	0	0	0	1	0	39	12				
PPARGC1B	133522	broad.mit.edu	37	5	149200006	149200006	+	Missense_Mutation	SNP	C	C	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr5:149200006C>A	ENST00000309241.5	+	2	121	c.89C>A	c.(88-90)tCc>tAc	p.S30Y	PPARGC1B_ENST00000403750.1_Missense_Mutation_p.S5Y|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.S30Y|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.S30Y	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	30	Abolishes DNA transcriptional activity when missing.				actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGTGGAGGGTCCGGGGAGGAG	0.577																																						ENST00000309241.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(88-90)tCc>tAc		peroxisome proliferator-activated receptor gamma, coactivator 1 beta							79.0	87.0	84.0					5																	149200006		2203	4300	6503	SO:0001583	missense	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149200006C>A	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.89C>A	5.37:g.149200006C>A	ENSP00000312649:p.Ser30Tyr					PPARGC1B_ENST00000360453.4_Missense_Mutation_p.S30Y|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.S5Y|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.S30Y	p.S30Y	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		2	121	+			30			Abolishes DNA transcriptional activity when missing.		A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	ENST00000309241.5	37	c.89C>A	CCDS4298.1	.	.	.	.	.	.	.	.	.	.	c	10.25	1.298106	0.23650	.	.	ENSG00000155846	ENST00000360453;ENST00000394320;ENST00000309241;ENST00000403750	T;T;T;T	0.12774	2.93;2.94;2.95;2.65	5.76	5.76	0.90799	.	0.184070	0.49916	D	0.000128	T	0.33265	0.0857	L	0.45581	1.43	0.09310	N	1	D;D;D;P;D	0.69078	0.958;0.958;0.958;0.661;0.997	P;P;P;B;D	0.68192	0.66;0.66;0.66;0.208;0.956	T	0.04017	-1.0984	10	0.87932	D	0	-7.4224	19.9678	0.97275	0.0:1.0:0.0:0.0	.	9;9;30;30;30	Q86YN6-2;Q86YN6-4;Q86YN6-5;Q86YN6;Q86YN6-3	.;.;.;PRGC2_HUMAN;.	Y	30;30;30;5	ENSP00000353638:S30Y;ENSP00000377855:S30Y;ENSP00000312649:S30Y;ENSP00000384403:S5Y	ENSP00000312649:S30Y	S	+	2	0	PPARGC1B	149180199	0.940000	0.31905	0.045000	0.18777	0.184000	0.23303	3.922000	0.56462	2.724000	0.93272	0.651000	0.88453	TCC		0.577	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		19	57	1	0	2.39187e-15	1	2.60034e-15	19	57				
LYL1	4066	broad.mit.edu	37	19	13210418	13210418	+	Silent	SNP	C	C	G			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr19:13210418C>G	ENST00000264824.4	-	4	918	c.558G>C	c.(556-558)ctG>ctC	p.L186L		NM_005583.4	NP_005574.2	P12980	LYL1_HUMAN	lymphoblastic leukemia associated hematopoiesis regulator 1	186	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				B cell differentiation (GO:0030183)|blood vessel maturation (GO:0001955)|definitive hemopoiesis (GO:0060216)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(1)|lung(2)|prostate(1)	7			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)			CGTTCTTGCTCAGCTTCCGGT	0.677			T	TRB@	T-ALL																																	ENST00000264824.4				Dom	yes		19	19p13.2-p13.1	4066	T	lymphoblastic leukemia derived sequence 1			L	TRB@		T-ALL		0				cervix(1)|endometrium(2)|kidney(1)|lung(2)|prostate(1)	7						c.(556-558)ctG>ctC		lymphoblastic leukemia derived sequence 1							15.0	10.0	11.0					19																	13210418		2144	4211	6355	SO:0001819	synonymous_variant	4066				B cell differentiation|blood vessel maturation|definitive hemopoiesis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:13210418C>G		CCDS12292.1	19p13.2	2014-01-20	2014-01-20			ENSG00000104903		"""Basic helix-loop-helix proteins"""	6734	protein-coding gene	gene with protein product		151440	"""lymphoblastic leukemia derived sequence 1"""			2752424	Standard	NM_005583		Approved	bHLHa18	uc002mwi.3	P12980		ENST00000264824.4:c.558G>C	19.37:g.13210418C>G							p.L186L	NM_005583.4	NP_005574.2	P12980	LYL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)		4	918	-			186			Helix-loop-helix motif.		O76102	Silent	SNP	ENST00000264824.4	37	c.558G>C	CCDS12292.1																																																																																				0.677	LYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452827.1	NM_005583		3	8	0	0	0	1	0	3	8				
SIPA1L1	26037	broad.mit.edu	37	14	72190550	72190550	+	Silent	SNP	A	A	G			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr14:72190550A>G	ENST00000555818.1	+	16	4806	c.4458A>G	c.(4456-4458)ggA>ggG	p.G1486G	SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_Silent_p.G940G|SIPA1L1_ENST00000381232.3_Silent_p.G1465G|SIPA1L1_ENST00000358550.2_Silent_p.G1465G	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1486	Ser-rich.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACCTGATTGGATGGAAAAAAC	0.502																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(4456-4458)ggA>ggG		signal-induced proliferation-associated 1 like 1							101.0	109.0	106.0					14																	72190550		2203	4300	6503	SO:0001819	synonymous_variant	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72190550A>G	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.4458A>G	14.37:g.72190550A>G						SIPA1L1_ENST00000358550.2_Silent_p.G1465G|SIPA1L1_ENST00000381232.3_Silent_p.G1465G|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_Silent_p.G940G	p.G1486G	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	16	4806	+			1486			Ser-rich.		J3KP19|O95321|Q9UDU4|Q9UNU4	Silent	SNP	ENST00000555818.1	37	c.4458A>G	CCDS9807.1																																																																																				0.502	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		65	65	0	0	0	1	0	65	65				
FAM47A	158724	broad.mit.edu	37	X	34148560	34148560	+	Silent	SNP	G	G	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chrX:34148560G>A	ENST00000346193.3	-	1	1887	c.1836C>T	c.(1834-1836)ttC>ttT	p.F612F		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	612										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CAGCCCACTTGAAGAATTCAC	0.428																																						ENST00000346193.3																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(1834-1836)ttC>ttT		family with sequence similarity 47, member A							79.0	73.0	75.0					X																	34148560		2105	4248	6353	SO:0001819	synonymous_variant	158724							g.chrX:34148560G>A	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1836C>T	X.37:g.34148560G>A							p.F612F	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	1887	-			612					A8K8I9|Q8TAA0	Silent	SNP	ENST00000346193.3	37	c.1836C>T	CCDS43926.1																																																																																				0.428	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		36	16	0	0	0	1	0	36	16				
IPO7	10527	broad.mit.edu	37	11	9452476	9452476	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr11:9452476G>C	ENST00000379719.3	+	16	1949	c.1807G>C	c.(1807-1809)Gac>Cac	p.D603H	CTD-2371O3.2_ENST00000531111.1_RNA|SNORA23_ENST00000365128.1_RNA	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	603					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		AGGTAGTGATGACAAAGCAGT	0.368																																						ENST00000379719.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1807-1809)Gac>Cac		importin 7							99.0	90.0	93.0					11																	9452476		2201	4294	6495	SO:0001583	missense	10527				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	g.chr11:9452476G>C	AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.1807G>C	11.37:g.9452476G>C	ENSP00000369042:p.Asp603His					CTD-2371O3.2_ENST00000531111.1_RNA	p.D603H	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN		all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)	16	1949	+			603					A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Missense_Mutation	SNP	ENST00000379719.3	37	c.1807G>C	CCDS31425.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.001443	0.93227	.	.	ENSG00000205339	ENST00000379719	T	0.50548	0.74	5.53	5.53	0.82687	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71467	0.3343	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.68557	-0.5377	10	0.26408	T	0.33	.	19.4518	0.94871	0.0:0.0:1.0:0.0	.	603	O95373	IPO7_HUMAN	H	603	ENSP00000369042:D603H	ENSP00000369042:D603H	D	+	1	0	IPO7	9409052	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.861000	0.99562	2.615000	0.88500	0.650000	0.86243	GAC		0.368	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391		25	11	0	0	0	1	0	25	11				
BAZ1B	9031	broad.mit.edu	37	7	72858434	72858434	+	Silent	SNP	G	G	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr7:72858434G>T	ENST00000339594.4	-	17	4208	c.3870C>A	c.(3868-3870)ggC>ggA	p.G1290G	BAZ1B_ENST00000404251.1_Silent_p.G1290G	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1290					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				CGCTGTGCTTGCCCCGGATGG	0.572																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	ENST00000339594.4																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(3868-3870)ggC>ggA		bromodomain adjacent to zinc finger domain, 1B							93.0	89.0	90.0					7																	72858434		2203	4300	6503	SO:0001819	synonymous_variant	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72858434G>T	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.3870C>A	7.37:g.72858434G>T						BAZ1B_ENST00000404251.1_Silent_p.G1290G	p.G1290G	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN			17	4208	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	1290					B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Silent	SNP	ENST00000339594.4	37	c.3870C>A	CCDS5549.1																																																																																				0.572	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		73	71	1	0	6.20995e-33	1	6.94226e-33	73	71				
FRA10AC1	118924	broad.mit.edu	37	10	95459821	95459821	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr10:95459821C>T	ENST00000359204.4	-	2	240	c.43G>A	c.(43-45)Gaa>Aaa	p.E15K	FRA10AC1_ENST00000394100.2_Missense_Mutation_p.E15K|FRA10AC1_ENST00000371430.2_Missense_Mutation_p.E15K|FRA10AC1_ENST00000536233.1_Missense_Mutation_p.E15K	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	15						nucleus (GO:0005634)				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						CCACAGCGTTCATCATCACTA	0.323																																						ENST00000359204.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						c.(43-45)Gaa>Aaa		fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1							83.0	77.0	79.0					10																	95459821		2203	4300	6503	SO:0001583	missense	118924					nucleus	protein binding	g.chr10:95459821C>T	AK090955	CCDS7430.1	10q23.33	2014-01-28	2010-05-25	2010-05-25	ENSG00000148690	ENSG00000148690			1162	protein-coding gene	gene with protein product		608866	"""chromosome 10 open reading frame 4"""	C10orf4		15203205	Standard	NM_145246		Approved		uc001kiz.2	Q70Z53	OTTHUMG00000018776	ENST00000359204.4:c.43G>A	10.37:g.95459821C>T	ENSP00000360488:p.Glu15Lys					FRA10AC1_ENST00000371430.2_Missense_Mutation_p.E15K|FRA10AC1_ENST00000394100.2_Missense_Mutation_p.E15K|FRA10AC1_ENST00000536233.1_Missense_Mutation_p.E15K	p.E15K	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN			2	240	-			15					C9JCR4|C9JCR5|C9JMY4|Q70Z49|Q70Z50|Q70Z51|Q70Z52|Q8N293|Q8WVH5|Q96JQ8	Missense_Mutation	SNP	ENST00000359204.4	37	c.43G>A	CCDS7430.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.935871	0.92458	.	.	ENSG00000148690	ENST00000359204;ENST00000536233;ENST00000371426;ENST00000371430;ENST00000394100	T;T;T;T	0.25414	1.84;1.84;1.8;1.82	5.39	5.39	0.77823	.	0.110302	0.64402	D	0.000010	T	0.29914	0.0748	L	0.54323	1.7	0.49798	D	0.999823	P;P;P	0.47910	0.902;0.902;0.651	B;B;B	0.40066	0.318;0.318;0.15	T	0.10989	-1.0606	10	0.62326	D	0.03	-20.2624	19.5285	0.95215	0.0:1.0:0.0:0.0	.	15;15;15	F8WCS9;Q70Z53-2;Q70Z53	.;.;F10C1_HUMAN	K	15	ENSP00000360488:E15K;ENSP00000438405:E15K;ENSP00000360484:E15K;ENSP00000377660:E15K	ENSP00000360488:E15K	E	-	1	0	FRA10AC1	95449811	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.432000	0.73400	2.692000	0.91855	0.655000	0.94253	GAA		0.323	FRA10AC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049439.1	NM_145246		25	40	0	0	0	1	0	25	40				
EIF4G1	1981	broad.mit.edu	37	3	184043061	184043061	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr3:184043061G>A	ENST00000346169.2	+	19	3132	c.2861G>A	c.(2860-2862)cGa>cAa	p.R954Q	EIF4G1_ENST00000435046.2_Missense_Mutation_p.R758Q|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R790Q|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R915Q|EIF4G1_ENST00000342981.4_Missense_Mutation_p.R955Q|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R759Q|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R961Q|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R791Q|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R914Q|SNORD66_ENST00000390856.1_RNA|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R868Q|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R867Q|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R954Q|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R961Q|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R961Q	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	954	eIF3/EIF4A-binding.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCCTAGCCCCGAATGGATCAG	0.522																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(2863-2865)cGa>cAa		eukaryotic translation initiation factor 4 gamma, 1							86.0	90.0	89.0					3																	184043061		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184043061G>A	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.2861G>A	3.37:g.184043061G>A	ENSP00000316879:p.Arg954Gln					EIF4G1_ENST00000427845.1_Missense_Mutation_p.R868Q|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R961Q|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R867Q|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R915Q|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R961Q|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R758Q|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R790Q|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R961Q|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R954Q|EIF4G1_ENST00000346169.2_Missense_Mutation_p.R954Q|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R759Q|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R791Q|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R914Q	p.R955Q	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		18	3278	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		954			eIF3/EIF4A-binding.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.2864G>A	CCDS3259.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.483628|5.483628	0.96307|0.96307	.|.	.|.	ENSG00000114867|ENSG00000114867	ENST00000448284|ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.21932	.|1.98;1.98;1.98;1.98;1.98;1.98;1.98;1.98;1.98;1.98;1.98;1.98;1.98;1.98;1.98	5.53|5.53	5.53|5.53	0.82687|0.82687	.|MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	.|0.056876	.|0.64402	.|D	.|0.000001	T|T	0.43322|0.43322	0.1242|0.1242	L|L	0.59967|0.59967	1.855|1.855	0.80722|0.80722	D|D	1|1	.|D;P;D;D	.|0.89917	.|1.0;0.942;0.994;0.987	.|D;P;P;P	.|0.77004	.|0.989;0.72;0.863;0.72	T|T	0.05954|0.05954	-1.0854|-1.0854	5|10	.|0.20046	.|T	.|0.44	-7.1642|-7.1642	19.453|19.453	0.94875|0.94875	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|961;955;954;961	.|E9PFM1;D3DNT2;Q04637;B2RU10	.|.;.;IF4G1_HUMAN;.	K|Q	6|954;914;867;961;895;790;961;868;955;954;961;915;791;759;758	.|ENSP00000316879:R954Q;ENSP00000391935:R914Q;ENSP00000376320:R867Q;ENSP00000371767:R961Q;ENSP00000403269:R895Q;ENSP00000317600:R790Q;ENSP00000338020:R961Q;ENSP00000407682:R868Q;ENSP00000343450:R955Q;ENSP00000323737:R954Q;ENSP00000416255:R961Q;ENSP00000395974:R915Q;ENSP00000399858:R791Q;ENSP00000411826:R759Q;ENSP00000404754:R758Q	.|ENSP00000323737:R954Q	E|R	+|+	1|2	0|0	EIF4G1|EIF4G1	185525755|185525755	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	9.665000|9.665000	0.98609|0.98609	2.613000|2.613000	0.88420|0.88420	0.555000|0.555000	0.69702|0.69702	GAA|CGA		0.522	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		25	121	0	0	0	1	0	25	121				
GOLGA5	9950	broad.mit.edu	37	14	93263973	93263973	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr14:93263973C>T	ENST00000163416.2	+	2	447	c.191C>T	c.(190-192)tCa>tTa	p.S64L	GOLGA5_ENST00000355976.2_Missense_Mutation_p.S64L	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	64					Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		ACGTATATTTCATCAGCAGCT	0.393			T	RET	papillary thyroid																																	ENST00000163416.2				Dom	yes		14	14q	9950	T	"""golgi autoantigen, golgin subfamily a, 5  (PTC5)"""			E	RET		papillary thyroid		0				large_intestine(6)|lung(1)|ovary(2)	9						c.(190-192)tCa>tTa		golgin A5							89.0	86.0	87.0					14																	93263973		2203	4300	6503	SO:0001583	missense	9950				Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding	g.chr14:93263973C>T	AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"""golgi integral membrane protein 5"""	606918	"""golgi autoantigen, golgin subfamily a, 5"""			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.191C>T	14.37:g.93263973C>T	ENSP00000163416:p.Ser64Leu					GOLGA5_ENST00000355976.2_Missense_Mutation_p.S64L	p.S64L	NM_005113.2	NP_005104.2	Q8TBA6	GOGA5_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	2	447	+		all_cancers(154;0.0934)	64					C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Missense_Mutation	SNP	ENST00000163416.2	37	c.191C>T	CCDS9905.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.029767	0.35797	.	.	ENSG00000066455	ENST00000163416;ENST00000355976;ENST00000439315	T;T	0.35048	1.34;1.33	5.65	4.77	0.60923	.	0.138647	0.33272	N	0.005088	T	0.38931	0.1059	M	0.69823	2.125	0.80722	D	1	B	0.27286	0.174	B	0.18263	0.021	T	0.29181	-1.0020	10	0.46703	T	0.11	-8.0125	15.2044	0.73165	0.0:0.9323:0.0:0.0677	.	64	Q8TBA6	GOGA5_HUMAN	L	64	ENSP00000163416:S64L;ENSP00000348252:S64L	ENSP00000163416:S64L	S	+	2	0	GOLGA5	92333726	1.000000	0.71417	0.960000	0.40013	0.040000	0.13550	5.108000	0.64609	1.540000	0.49301	-0.126000	0.14955	TCA		0.393	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412365.1			42	34	0	0	0	1	0	42	34				
RTP4	64108	broad.mit.edu	37	3	187089114	187089114	+	Missense_Mutation	SNP	A	A	G			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr3:187089114A>G	ENST00000259030.2	+	2	804	c.694A>G	c.(694-696)Att>Gtt	p.I232V		NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	receptor (chemosensory) transporter protein 4	232					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CTGTGTCTTTATTTTGCTGCT	0.413																																						ENST00000259030.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11						c.(694-696)Att>Gtt		receptor (chemosensory) transporter protein 4							71.0	60.0	64.0					3																	187089114		2203	4300	6503	SO:0001583	missense	64108				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding	g.chr3:187089114A>G	BC013161	CCDS33910.1	3q27.3	2014-02-20	2006-11-21		ENSG00000136514	ENSG00000136514		"""Receptor transporter proteins"""	23992	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 4"""	609350	"""receptor transporter protein 4"""			16271481, 15550249, 16720576	Standard	NM_022147		Approved	IFRG28, Z3CXXC4	uc003frm.3	Q96DX8	OTTHUMG00000156459	ENST00000259030.2:c.694A>G	3.37:g.187089114A>G	ENSP00000259030:p.Ile232Val						p.I232V	NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	2	804	+	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		232					Q9H4F3	Missense_Mutation	SNP	ENST00000259030.2	37	c.694A>G	CCDS33910.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.605674	0.00842	.	.	ENSG00000136514	ENST00000259030	T	0.18502	2.21	3.36	-6.28	0.02020	.	6.474240	0.00633	N	0.000490	T	0.07773	0.0195	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21621	-1.0240	10	0.38643	T	0.18	1.736	4.1587	0.10273	0.4557:0.0:0.2253:0.319	.	232	Q96DX8	RTP4_HUMAN	V	232	ENSP00000259030:I232V	ENSP00000259030:I232V	I	+	1	0	RTP4	188571808	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.863000	0.04259	-2.134000	0.00812	-2.613000	0.00159	ATT		0.413	RTP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344260.1	NM_022147		27	42	0	0	0	1	0	27	42				
COL11A1	1301	broad.mit.edu	37	1	103405944	103405944	+	Missense_Mutation	SNP	C	C	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr1:103405944C>A	ENST00000370096.3	-	43	3635	c.3323G>T	c.(3322-3324)gGt>gTt	p.G1108V	COL11A1_ENST00000358392.2_Missense_Mutation_p.G1120V|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1069V|COL11A1_ENST00000512756.1_Missense_Mutation_p.G992V	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1108	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCAACAGGACCTTGAACTCC	0.483																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(3358-3360)gGt>gTt		collagen, type XI, alpha 1							61.0	67.0	65.0					1																	103405944		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103405944C>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3323G>T	1.37:g.103405944C>A	ENSP00000359114:p.Gly1108Val					COL11A1_ENST00000512756.1_Missense_Mutation_p.G992V|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1069V|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1108V	p.G1120V	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	43	3676	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1108			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.3359G>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.933195	0.73442	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.99637	-6.29;-6.29;-6.29;-6.29	5.28	5.28	0.74379	.	0.118551	0.64402	D	0.000020	D	0.99771	0.9906	M	0.94021	3.485	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;1.0;1.0;0.998;0.999	D	0.97271	0.9911	10	0.87932	D	0	.	18.9157	0.92505	0.0:1.0:0.0:0.0	.	992;1069;1120;1108;328	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	V	1108;1120;1069;328;992	ENSP00000359114:G1108V;ENSP00000351163:G1120V;ENSP00000302551:G1069V;ENSP00000426533:G992V	ENSP00000302551:G1069V	G	-	2	0	COL11A1	103178532	1.000000	0.71417	0.970000	0.41538	0.980000	0.70556	7.792000	0.85828	2.467000	0.83353	0.650000	0.86243	GGT		0.483	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		16	19	1	0	3.41278e-10	1	3.64338e-10	16	19				
RALGAPA1	253959	broad.mit.edu	37	14	36192260	36192260	+	Nonsense_Mutation	SNP	G	G	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr14:36192260G>A	ENST00000389698.3	-	15	2467	c.2077C>T	c.(2077-2079)Cag>Tag	p.Q693*	RALGAPA1_ENST00000307138.6_Nonsense_Mutation_p.Q693*|RALGAPA1_ENST00000382366.3_Nonsense_Mutation_p.Q693*|RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000258840.6_Nonsense_Mutation_p.Q693*	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	693					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTTTGTTTCTGTTCACTCAGC	0.343																																						ENST00000258840.6																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(2077-2079)Cag>Tag		Ral GTPase activating protein, alpha subunit 1 (catalytic)							101.0	94.0	96.0					14																	36192260		2203	4300	6503	SO:0001587	stop_gained	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36192260G>A	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.2077C>T	14.37:g.36192260G>A	ENSP00000374348:p.Gln693*					RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000389698.3_Nonsense_Mutation_p.Q693*|RALGAPA1_ENST00000382366.3_Nonsense_Mutation_p.Q693*|RALGAPA1_ENST00000307138.6_Nonsense_Mutation_p.Q693*	p.Q693*			Q6GYQ0	RGPA1_HUMAN			15	2467	-			693					A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Nonsense_Mutation	SNP	ENST00000389698.3	37	c.2077C>T	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	G	44	10.980754	0.99498	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-6.7921	19.2699	0.94004	0.0:0.0:1.0:0.0	.	.	.	.	X	693	.	ENSP00000258840:Q693X	Q	-	1	0	RALGAPA1	35262011	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.630000	0.98420	2.570000	0.86706	0.591000	0.81541	CAG		0.343	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		157	37	0	0	0	1	0	157	37				
SSPO	23145	broad.mit.edu	37	7	149514780	149514780	+	RNA	SNP	C	C	T	rs374846709		TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr7:149514780C>T	ENST00000378016.2	+	0	11322							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTCAGCCCCTCGGGCCTGGAG	0.652																																						ENST00000378016.2																			0													SCO-spondin		C		0,4146		0,0,2073	21.0	24.0	23.0		11332	-8.8	0.0	7		23	1,8419		0,1,4209	no	coding-notMod3	SSPO	NM_198455.2		0,1,6282	TT,TC,CC		0.0119,0.0,0.0080			149514780	1,12565	2073	4210	6283			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149514780C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149514780C>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	11322	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.652	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				26	18	0	0	0	1	0	26	18				
ARAP1	116985	broad.mit.edu	37	11	72421485	72421485	+	Missense_Mutation	SNP	T	T	C			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr11:72421485T>C	ENST00000393609.3	-	10	1563	c.1361A>G	c.(1360-1362)aAt>aGt	p.N454S	ARAP1_ENST00000455638.2_Missense_Mutation_p.N454S|ARAP1_ENST00000393605.3_Missense_Mutation_p.N214S|ARAP1_ENST00000429686.1_Missense_Mutation_p.N209S|ARAP1_ENST00000359373.5_Missense_Mutation_p.N454S|ARAP1_ENST00000426523.1_Missense_Mutation_p.N209S|ARAP1_ENST00000334211.8_Missense_Mutation_p.N209S	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	454	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GTACAGCTTATTCTTGAAGCC	0.607																																					Ovarian(102;1198 1520 13195 17913 37529)	ENST00000359373.5																			0				cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						c.(1360-1362)aAt>aGt		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1							115.0	109.0	111.0					11																	72421485		2200	4293	6493	SO:0001583	missense	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72421485T>C	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.1361A>G	11.37:g.72421485T>C	ENSP00000377233:p.Asn454Ser					ARAP1_ENST00000429686.1_Missense_Mutation_p.N209S|ARAP1_ENST00000334211.8_Missense_Mutation_p.N209S|ARAP1_ENST00000455638.2_Missense_Mutation_p.N454S|ARAP1_ENST00000426523.1_Missense_Mutation_p.N209S|ARAP1_ENST00000393605.3_Missense_Mutation_p.N214S|ARAP1_ENST00000393609.3_Missense_Mutation_p.N454S	p.N454S			Q96P48	ARAP1_HUMAN			10	2212	-			454			PH 2.		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	37	c.1361A>G	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	T	9.024	0.985589	0.18889	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000340247	T;T;T;T;T;T;T	0.62788	0.0;0.0;0.0;0.0;0.0;0.0;0.0	5.42	1.54	0.23209	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.206897	0.40728	N	0.001023	T	0.32645	0.0836	N	0.05441	-0.05	0.24786	N	0.99279	B;B;B;B;B	0.24920	0.02;0.002;0.114;0.04;0.034	B;B;B;B;B	0.24974	0.013;0.001;0.057;0.014;0.028	T	0.17379	-1.0371	10	0.10902	T	0.67	.	6.055	0.19807	0.0:0.1531:0.1373:0.7096	.	209;209;454;454;214	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	S	454;454;214;209;454;209;209;243	ENSP00000352332:N454S;ENSP00000390461:N454S;ENSP00000377230:N214S;ENSP00000335506:N209S;ENSP00000377233:N454S;ENSP00000392264:N209S;ENSP00000403127:N209S	ENSP00000335506:N209S	N	-	2	0	ARAP1	72099133	0.999000	0.42202	0.999000	0.59377	0.991000	0.79684	0.472000	0.22116	0.908000	0.36671	0.460000	0.39030	AAT		0.607	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		106	40	0	0	0	1	0	106	40				
GNPAT	8443	broad.mit.edu	37	1	231377141	231377141	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr1:231377141C>T	ENST00000366647.4	+	1	186	c.17C>T	c.(16-18)tCa>tTa	p.S6L	C1orf131_ENST00000471936.1_5'Flank|GNPAT_ENST00000366646.3_Missense_Mutation_p.S6L|C1orf131_ENST00000366649.2_5'Flank|C1orf131_ENST00000318906.2_5'Flank|C1orf131_ENST00000366651.3_5'Flank	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	6	Poly-Ser.				cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TCTTCCAGTTCATCTAACTCT	0.622																																						ENST00000366647.4																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23						c.(16-18)tCa>tTa		glyceronephosphate O-acyltransferase							102.0	112.0	109.0					1																	231377141		2203	4300	6503	SO:0001583	missense	8443				ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity	g.chr1:231377141C>T	AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.17C>T	1.37:g.231377141C>T	ENSP00000355607:p.Ser6Leu					GNPAT_ENST00000366646.3_Missense_Mutation_p.S6L	p.S6L	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN			1	186	+	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)	6			Poly-Ser.		B4DNM9|Q5TBH7|Q9BWC2	Missense_Mutation	SNP	ENST00000366647.4	37	c.17C>T	CCDS1592.1	.	.	.	.	.	.	.	.	.	.	C	9.378	1.072241	0.20147	.	.	ENSG00000116906	ENST00000436239;ENST00000366647;ENST00000366646;ENST00000416000	D;T;T;T	0.90385	-2.66;-0.16;-0.63;-0.16	4.75	3.84	0.44239	.	1.216530	0.06175	N	0.678450	D	0.88093	0.6344	L	0.51422	1.61	0.09310	N	1	B;B	0.27498	0.18;0.18	B;B	0.24269	0.052;0.037	T	0.77624	-0.2518	10	0.72032	D	0.01	-15.3877	8.6211	0.33861	0.0:0.8967:0.0:0.1033	.	6;6	B4DNM9;O15228	.;GNPAT_HUMAN	L	6	ENSP00000402811:S6L;ENSP00000355607:S6L;ENSP00000355606:S6L;ENSP00000411640:S6L	ENSP00000355606:S6L	S	+	2	0	GNPAT	229443764	0.009000	0.17119	0.002000	0.10522	0.006000	0.05464	1.673000	0.37534	1.212000	0.43366	0.655000	0.94253	TCA		0.622	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092871.1			66	51	0	0	0	1	0	66	51				
CLTC	1213	broad.mit.edu	37	17	57761261	57761261	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr17:57761261C>T	ENST00000269122.3	+	28	4623	c.4349C>T	c.(4348-4350)cCg>cTg	p.P1450L	CLTC_ENST00000393043.1_Missense_Mutation_p.P1450L|CLTC_ENST00000579456.1_Missense_Mutation_p.P387L	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1450	Heavy chain arm.|Involved in binding clathrin light chain. {ECO:0000250}.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CTGGTGAAACCGTATTTGCGT	0.328			T	"""ALK, TFE3"""	"""ALCL, renal """																																	ENST00000269122.3				Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	"""ALK, TFE3"""		"""ALCL, renal """	CLTC/ALK(44)|CLTC/TFE3(2)	0				breast(2)|large_intestine(6)|ovary(1)	9						c.(4348-4350)cCg>cTg		clathrin, heavy chain (Hc)							69.0	66.0	67.0					17																	57761261		2203	4300	6503	SO:0001583	missense	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57761261C>T	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.4349C>T	17.37:g.57761261C>T	ENSP00000269122:p.Pro1450Leu					CLTC_ENST00000393043.1_Missense_Mutation_p.P1450L|CLTC_ENST00000579456.1_Missense_Mutation_p.P387L	p.P1450L	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN			28	4623	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1450			Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	c.4349C>T	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.481813	0.84747	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.20738	2.05;2.05	5.55	5.55	0.83447	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58075	0.2097	M	0.91972	3.26	0.80722	D	1	D;P	0.71674	0.998;0.91	D;P	0.79108	0.992;0.803	T	0.66803	-0.5831	10	0.87932	D	0	.	19.8621	0.96787	0.0:1.0:0.0:0.0	.	1450;1450	Q00610;Q00610-2	CLH1_HUMAN;.	L	1450	ENSP00000269122:P1450L;ENSP00000376763:P1450L	ENSP00000269122:P1450L	P	+	2	0	CLTC	55116043	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.818000	0.86416	2.770000	0.95276	0.563000	0.77884	CCG		0.328	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		25	36	0	0	0	1	0	25	36				
LINGO4	339398	broad.mit.edu	37	1	151773897	151773897	+	Silent	SNP	G	G	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr1:151773897G>A	ENST00000368820.3	-	2	2221	c.1284C>T	c.(1282-1284)ggC>ggT	p.G428G	RP11-98D18.17_ENST00000601909.1_lincRNA	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	428	Ig-like C2-type.					integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCGCATGCCCGCCCTCCTCTG	0.612																																						ENST00000368820.3																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1282-1284)ggC>ggT		leucine rich repeat and Ig domain containing 4							61.0	62.0	61.0					1																	151773897		2203	4300	6503	SO:0001819	synonymous_variant	339398					integral to membrane		g.chr1:151773897G>A		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.1284C>T	1.37:g.151773897G>A							p.G428G	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	2221	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		428			Ig-like C2-type.			Silent	SNP	ENST00000368820.3	37	c.1284C>T	CCDS30855.1																																																																																				0.612	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387		19	91	0	0	0	1	0	19	91				
ARHGEF15	22899	broad.mit.edu	37	17	8216345	8216345	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr17:8216345G>A	ENST00000361926.3	+	3	817	c.707G>A	c.(706-708)aGg>aAg	p.R236K	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R236K	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	236					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GAGGTCCCCAGGGTCCCCCGT	0.711																																						ENST00000361926.3																			0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(706-708)aGg>aAg		Rho guanine nucleotide exchange factor (GEF) 15							49.0	60.0	56.0					17																	8216345		2202	4297	6499	SO:0001583	missense	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8216345G>A	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.707G>A	17.37:g.8216345G>A	ENSP00000355026:p.Arg236Lys					ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R236K	p.R236K	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			3	817	+			236					A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	37	c.707G>A	CCDS11139.1	.	.	.	.	.	.	.	.	.	.	G	7.935	0.741419	0.15642	.	.	ENSG00000198844	ENST00000361926;ENST00000421050	T;T	0.40756	1.02;1.02	4.91	1.65	0.23941	.	0.287341	0.34435	N	0.003964	T	0.25827	0.0629	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.12656	-1.0539	10	0.33141	T	0.24	-11.3325	6.5892	0.22638	0.3336:0.0:0.6664:0.0	.	236	O94989	ARHGF_HUMAN	K	236	ENSP00000355026:R236K;ENSP00000412505:R236K	ENSP00000355026:R236K	R	+	2	0	ARHGEF15	8157070	0.050000	0.20438	0.333000	0.25482	0.090000	0.18270	0.439000	0.21575	0.604000	0.29930	0.561000	0.74099	AGG		0.711	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		68	28	0	0	0	1	0	68	28				
MAST2	23139	broad.mit.edu	37	1	46472023	46472023	+	Missense_Mutation	SNP	A	A	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr1:46472023A>T	ENST00000361297.2	+	8	1141	c.858A>T	c.(856-858)gaA>gaT	p.E286D	MAST2_ENST00000372009.2_Missense_Mutation_p.E286D	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CAGATGAGGAAGGACGGCAGT	0.557																																						ENST00000361297.2																			0				breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.(856-858)gaA>gaT		microtubule associated serine/threonine kinase 2							101.0	106.0	104.0					1																	46472023		2112	4238	6350	SO:0001583	missense	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46472023A>T	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.858A>T	1.37:g.46472023A>T	ENSP00000354671:p.Glu286Asp					MAST2_ENST00000372008.1_Missense_Mutation_p.E171D|MAST2_ENST00000372009.2_Missense_Mutation_p.E286D	p.E286D	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN			8	1141	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		286						Missense_Mutation	SNP	ENST00000361297.2	37	c.858A>T	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	A	11.63	1.696131	0.30052	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000456625;ENST00000372008	T;T;T	0.26810	1.71;1.71;1.71	5.49	1.55	0.23275	Microtubule-associated serine/threonine-protein kinase, domain (1);	0.000000	0.85682	D	0.000000	T	0.07007	0.0178	N	0.01405	-0.89	0.09310	N	0.999999	B;B;B;B	0.30281	0.002;0.004;0.275;0.017	B;B;B;B	0.29785	0.006;0.007;0.107;0.048	T	0.41805	-0.9488	10	0.07325	T	0.83	-23.8493	9.3386	0.38065	0.4265:0.0:0.5735:0.0	.	286;150;286;286	Q6P0Q8-2;E9PBM6;E7ERL6;Q6P0Q8	.;.;.;MAST2_HUMAN	D	286;286;150;171	ENSP00000354671:E286D;ENSP00000361079:E286D;ENSP00000361078:E171D	ENSP00000354671:E286D	E	+	3	2	MAST2	46244610	1.000000	0.71417	0.997000	0.53966	0.925000	0.55904	0.716000	0.25836	0.046000	0.15833	-1.006000	0.02489	GAA		0.557	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		35	89	0	0	0	1	0	35	89				
PLK4	10733	broad.mit.edu	37	4	128814571	128814571	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr4:128814571G>A	ENST00000270861.5	+	11	2594	c.2320G>A	c.(2320-2322)Gag>Aag	p.E774K	PLK4_ENST00000513090.1_Missense_Mutation_p.E742K|PLK4_ENST00000507249.1_Missense_Mutation_p.E713K|PLK4_ENST00000515069.1_Missense_Mutation_p.E696K|PLK4_ENST00000514379.1_Missense_Mutation_p.E733K|RNU6-583P_ENST00000516012.1_RNA	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	774					centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E774*(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						CCATGCTAATGAGGTACATAC	0.333																																					Colon(135;508 1718 19061 31832 42879)	ENST00000270861.5																			1	Substitution - Nonsense(1)	p.E774*(1)	endometrium(1)	central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(2320-2322)Gag>Aag		polo-like kinase 4							93.0	94.0	94.0					4																	128814571		2202	4299	6501	SO:0001583	missense	10733				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:128814571G>A	Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"""serine/threonine kinase 18"", ""polo-like kinase 4 (Drosophila)"""	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.2320G>A	4.37:g.128814571G>A	ENSP00000270861:p.Glu774Lys					PLK4_ENST00000507249.1_Missense_Mutation_p.E713K|PLK4_ENST00000513090.1_Missense_Mutation_p.E742K|PLK4_ENST00000514379.1_Missense_Mutation_p.E733K|PLK4_ENST00000515069.1_Missense_Mutation_p.E696K	p.E774K	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN			11	2594	+			774					B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Missense_Mutation	SNP	ENST00000270861.5	37	c.2320G>A	CCDS3735.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.873160	0.91664	.	.	ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000513090;ENST00000507249;ENST00000514379	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.55226	0.1907	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.57551	-0.7792	10	0.87932	D	0	-7.5324	18.6726	0.91517	0.0:0.0:1.0:0.0	.	742;774	O00444-2;O00444	.;PLK4_HUMAN	K	774;696;742;713;733	ENSP00000270861:E774K;ENSP00000421774:E696K;ENSP00000427554:E742K;ENSP00000423412:E713K;ENSP00000423582:E733K	ENSP00000270861:E774K	E	+	1	0	PLK4	129034021	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	8.612000	0.90909	2.631000	0.89168	0.655000	0.94253	GAG		0.333	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3			32	14	0	0	0	1	0	32	14				
ZSWIM4	65249	broad.mit.edu	37	19	13941053	13941053	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr19:13941053C>T	ENST00000254323.2	+	13	2348	c.2159C>T	c.(2158-2160)aCa>aTa	p.T720I	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.T554I	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	720							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			TCCTTATTCACACCAGTGGAG	0.617																																						ENST00000254323.2																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(2158-2160)aCa>aTa		zinc finger, SWIM-type containing 4							71.0	70.0	70.0					19																	13941053		2203	4300	6503	SO:0001583	missense	65249						zinc ion binding	g.chr19:13941053C>T	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.2159C>T	19.37:g.13941053C>T	ENSP00000254323:p.Thr720Ile					ZSWIM4_ENST00000440752.2_Missense_Mutation_p.T554I	p.T720I	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		13	2348	+			720						Missense_Mutation	SNP	ENST00000254323.2	37	c.2159C>T	CCDS32924.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584158	0.46110	.	.	ENSG00000132003	ENST00000254323;ENST00000440752	T;T	0.56776	0.44;0.47	4.16	3.08	0.35506	.	0.000000	0.64402	D	0.000014	T	0.68668	0.3026	M	0.72894	2.215	0.47584	D	0.999468	D;D	0.89917	0.999;1.0	D;D	0.83275	0.973;0.996	T	0.70215	-0.4933	10	0.72032	D	0.01	-50.6008	11.3999	0.49864	0.0:0.8147:0.1853:0.0	.	554;720	E7ERX2;Q9H7M6	.;ZSWM4_HUMAN	I	720;554	ENSP00000254323:T720I;ENSP00000405278:T554I	ENSP00000254323:T720I	T	+	2	0	ZSWIM4	13802053	1.000000	0.71417	0.392000	0.26245	0.437000	0.31866	5.773000	0.68898	0.681000	0.31386	0.491000	0.48974	ACA		0.617	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		15	38	0	0	0	1	0	15	38				
SELP	6403	broad.mit.edu	37	1	169581536	169581536	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr1:169581536C>T	ENST00000263686.6	-	6	917	c.880G>A	c.(880-882)Gag>Aag	p.E294K	SELP_ENST00000367792.2_Missense_Mutation_p.E294K|SELP_ENST00000458599.2_Missense_Mutation_p.E294K|SELP_ENST00000367793.2_Intron|SELP_ENST00000367794.2_Missense_Mutation_p.E294K|SELP_ENST00000367788.2_Intron|SELP_ENST00000367786.2_Missense_Mutation_p.E294K|SELP_ENST00000367791.2_Missense_Mutation_p.E294K	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	294	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	GCAAATCCCTCTTCACAACTG	0.527																																						ENST00000263686.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(880-882)Gag>Aag		selectin P (granule membrane protein 140kDa, antigen CD62)	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						124.0	112.0	116.0					1																	169581536		2203	4300	6503	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169581536C>T	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.880G>A	1.37:g.169581536C>T	ENSP00000263686:p.Glu294Lys					SELP_ENST00000367786.2_Missense_Mutation_p.E294K|SELP_ENST00000367794.2_Missense_Mutation_p.E294K|SELP_ENST00000458599.2_Missense_Mutation_p.E294K|SELP_ENST00000367792.2_Missense_Mutation_p.E294K|SELP_ENST00000367788.2_Intron|SELP_ENST00000367791.2_Missense_Mutation_p.E294K|SELP_ENST00000367793.2_Intron	p.E294K	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN			6	917	-	all_hematologic(923;0.208)		294			Sushi 2.		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.880G>A	CCDS1282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.70|12.70	2.017922|2.017922	0.35606|0.35606	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367786;ENST00000458599|ENST00000446728	T;T;T;T;T|.	0.66815|.	-0.23;-0.23;-0.23;-0.23;-0.23|.	5.39|5.39	3.5|3.5	0.40072|0.40072	Complement control module (2);Sushi/SCR/CCP (3);|.	0.000000|.	0.47093|.	D|.	0.000251|.	T|T	0.41236|0.41236	0.1150|0.1150	L|L	0.45422|0.45422	1.42|1.42	0.36016|0.36016	D|D	0.838391|0.838391	P;B;P|.	0.39809|.	0.689;0.167;0.454|.	P;B;B|.	0.49922|.	0.626;0.124;0.286|.	T|T	0.28490|0.28490	-1.0042|-1.0042	10|5	0.23302|.	T|.	0.38|.	.|.	11.0875|11.0875	0.48095|0.48095	0.0:0.8461:0.0:0.1539|0.0:0.8461:0.0:0.1539	.|.	294;294;294|.	Q6NUL9;P16109;G3V1U2|.	.;LYAM3_HUMAN;.|.	K|K	294;294;293;294;294;294;294;294;294;294;279|293	ENSP00000263686:E294K;ENSP00000356768:E294K;ENSP00000356766:E294K;ENSP00000356765:E294K;ENSP00000356760:E294K|.	ENSP00000263686:E294K|.	E|R	-|-	1|2	0|0	SELP|SELP	167848160|167848160	0.000000|0.000000	0.05858|0.05858	0.055000|0.055000	0.19348|0.19348	0.241000|0.241000	0.25554|0.25554	0.046000|0.046000	0.14035|0.14035	0.630000|0.630000	0.30394|0.30394	0.650000|0.650000	0.86243|0.86243	GAG|AGA		0.527	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		40	32	0	0	0	1	0	40	32				
EVI5L	115704	broad.mit.edu	37	19	7927297	7927297	+	Silent	SNP	G	G	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr19:7927297G>A	ENST00000270530.4	+	16	1987	c.1791G>A	c.(1789-1791)ctG>ctA	p.L597L	EVI5L_ENST00000538904.2_Silent_p.L608L	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	597					negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						GCAACCTTCTGAACCGCGTGG	0.677																																						ENST00000270530.4																			0				breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(1789-1791)ctG>ctA		ecotropic viral integration site 5-like							23.0	27.0	26.0					19																	7927297		2199	4299	6498	SO:0001819	synonymous_variant	115704					intracellular	protein binding|Rab GTPase activator activity	g.chr19:7927297G>A	BC014111	CCDS12188.1, CCDS54209.1	19p13	2013-07-09				ENSG00000142459			30464	protein-coding gene	gene with protein product						23669355	Standard	NM_001159944		Approved		uc010xjz.2	Q96CN4		ENST00000270530.4:c.1791G>A	19.37:g.7927297G>A						EVI5L_ENST00000538904.2_Silent_p.L608L	p.L597L	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN			16	1987	+			597					B9A6I9	Silent	SNP	ENST00000270530.4	37	c.1791G>A	CCDS12188.1																																																																																				0.677	EVI5L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461347.1	NM_145245		11	20	0	0	0	1	0	11	20				
KMT2D	8085	broad.mit.edu	37	12	49442492	49442492	+	Nonsense_Mutation	SNP	G	G	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr12:49442492G>A	ENST00000301067.7	-	13	4080	c.4081C>T	c.(4081-4083)Cag>Tag	p.Q1361*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1361					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										ACGGTATTCTGCATGGTGTCA	0.453																																						ENST00000301067.7																			0											c.(4081-4083)Cag>Tag		lysine (K)-specific methyltransferase 2D							277.0	279.0	279.0					12																	49442492		2047	4193	6240	SO:0001587	stop_gained	8085							g.chr12:49442492G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.4081C>T	12.37:g.49442492G>A	ENSP00000301067:p.Gln1361*						p.Q1361*	NM_003482.3	NP_003473.3					13	4080	-								O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.4081C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	44	10.682374	0.99449	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.92	5.92	0.95590	.	0.000000	0.33938	N	0.004410	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.0866	0.93204	0.0:0.0:1.0:0.0	.	.	.	.	X	1361	.	ENSP00000301067:Q1361X	Q	-	1	0	MLL2	47728759	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.845000	0.99498	2.809000	0.96659	0.467000	0.42956	CAG		0.453	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			118	168	0	0	0	1	0	118	168				
DEFB128	245939	broad.mit.edu	37	20	168551	168551	+	Silent	SNP	G	G	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr20:168551G>T	ENST00000334391.4	-	2	315	c.258C>A	c.(256-258)ccC>ccA	p.P86P		NM_001037732.1	NP_001032821.1	Q7Z7B8	DB128_HUMAN	defensin, beta 128	86					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5		all_cancers(10;0.00499)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			TGGTGATGGTGGGTAAGATGA	0.433																																						ENST00000334391.4																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(256-258)ccC>ccA		defensin, beta 128							343.0	297.0	313.0					20																	168551		2203	4300	6503	SO:0001819	synonymous_variant	245939				defense response to bacterium	extracellular region		g.chr20:168551G>T	AF525930	CCDS33430.1	20p13	2011-03-29			ENSG00000185982	ENSG00000185982		"""Defensins, beta"""	18106	protein-coding gene	gene with protein product	"""defensin, beta 28"""					11854508, 16033865	Standard	NM_001037732		Approved	DEFB-28	uc002wcz.1	Q7Z7B8	OTTHUMG00000043057	ENST00000334391.4:c.258C>A	20.37:g.168551G>T							p.P86P	NM_001037732.1	NP_001032821.1	Q7Z7B8	DB128_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.122)		2	315	-		all_cancers(10;0.00499)|Lung NSC(37;0.227)	86					B2RU29	Silent	SNP	ENST00000334391.4	37	c.258C>A	CCDS33430.1																																																																																				0.433	DEFB128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000101361.2	NM_001037732		45	137	1	0	4.25531e-23	1	4.71266e-23	45	137				
ASAH2	56624	broad.mit.edu	37	10	51970603	51970603	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr10:51970603C>G	ENST00000395526.4	-	11	1393	c.1394G>C	c.(1393-1395)gGa>gCa	p.G465A	ASAH2_ENST00000329428.6_Missense_Mutation_p.G411A|ASAH2_ENST00000447815.1_Missense_Mutation_p.G430A|ASAH2_ENST00000443575.1_Missense_Mutation_p.G307A	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	465					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ceramidase activity (GO:0017040)			large_intestine(1)|lung(9)|urinary_tract(1)	11						ATTGAGGCCTCCAACTCCATC	0.378																																						ENST00000395526.3																			0				large_intestine(1)|lung(9)|urinary_tract(1)	11						c.(1393-1395)gGa>gCa		N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2							63.0	43.0	54.0					10																	51970603		1704	1291	2995	SO:0001583	missense	56624				apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity	g.chr10:51970603C>G	AF250847	CCDS7239.2, CCDS44398.1	10q11.23	2008-08-11			ENSG00000188611	ENSG00000188611			18860	protein-coding gene	gene with protein product		611202				10781606	Standard	NM_019893		Approved		uc001jjd.3	Q9NR71	OTTHUMG00000018223	ENST00000395526.4:c.1394G>C	10.37:g.51970603C>G	ENSP00000378897:p.Gly465Ala					ASAH2_ENST00000329428.6_Missense_Mutation_p.G411A|ASAH2_ENST00000447815.1_Missense_Mutation_p.G430A|ASAH2_ENST00000443575.1_Missense_Mutation_p.G307A	p.G465A	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN			11	1393	-			465					Q3KNU1|Q5SNT7|Q5SZP6|Q5SZP7|Q5T1D5|Q71ME6	Missense_Mutation	SNP	ENST00000395526.4	37	c.1394G>C	CCDS7239.2	.	.	.	.	.	.	.	.	.	.	C	13.38	2.218638	0.39201	.	.	ENSG00000188611	ENST00000395526;ENST00000447815;ENST00000443575;ENST00000329428	T;T;T;T	0.60171	0.21;0.21;0.21;0.21	5.24	3.33	0.38152	.	0.289314	0.38217	N	0.001779	T	0.73745	0.3626	M	0.79926	2.475	0.46185	D	0.99891	D;D	0.63046	0.992;0.989	P;D	0.63703	0.864;0.917	T	0.75545	-0.3280	10	0.52906	T	0.07	.	13.6237	0.62150	0.0:0.6112:0.3888:0.0	.	430;465	Q9NR71-2;Q9NR71	.;ASAH2_HUMAN	A	465;430;307;411	ENSP00000378897:G465A;ENSP00000388206:G430A;ENSP00000392766:G307A;ENSP00000329886:G411A	ENSP00000329886:G411A	G	-	2	0	ASAH2	51640609	1.000000	0.71417	0.663000	0.29738	0.221000	0.24807	5.032000	0.64140	0.540000	0.28808	-0.519000	0.04390	GGA		0.378	ASAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048061.3	NM_019893		41	121	0	0	0	1	0	41	121				
PLEC	5339	broad.mit.edu	37	8	144993486	144993486	+	Silent	SNP	G	G	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr8:144993486G>A	ENST00000322810.4	-	32	11083	c.10914C>T	c.(10912-10914)gtC>gtT	p.V3638V	PLEC_ENST00000527096.1_Silent_p.V3524V|PLEC_ENST00000354958.2_Silent_p.V3479V|PLEC_ENST00000354589.3_Silent_p.V3501V|PLEC_ENST00000345136.3_Silent_p.V3501V|PLEC_ENST00000436759.2_Silent_p.V3528V|PLEC_ENST00000357649.2_Silent_p.V3505V|PLEC_ENST00000356346.3_Silent_p.V3487V|PLEC_ENST00000398774.2_Silent_p.V3469V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3638	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGTCCGCCAGGACGCGGTTCA	0.657																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(10912-10914)gtC>gtT		plectin							70.0	79.0	76.0					8																	144993486		2074	4188	6262	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144993486G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.10914C>T	8.37:g.144993486G>A						PLEC_ENST00000436759.2_Silent_p.V3528V|PLEC_ENST00000357649.2_Silent_p.V3505V|PLEC_ENST00000398774.2_Silent_p.V3469V|PLEC_ENST00000354589.3_Silent_p.V3501V|PLEC_ENST00000345136.3_Silent_p.V3501V|PLEC_ENST00000354958.2_Silent_p.V3479V|PLEC_ENST00000527096.1_Silent_p.V3524V|PLEC_ENST00000356346.3_Silent_p.V3487V	p.V3638V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	11083	-			3638			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.10914C>T	CCDS43772.1																																																																																				0.657	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		34	186	0	0	0	1	0	34	186				
ABCC1	4363	broad.mit.edu	37	16	16208861	16208861	+	Silent	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr16:16208861C>T	ENST00000399410.3	+	23	3493	c.3318C>T	c.(3316-3318)atC>atT	p.I1106I	ABCC1_ENST00000345148.5_Silent_p.I1106I|ABCC1_ENST00000399408.2_Silent_p.I1116I|ABCC1_ENST00000346370.5_Silent_p.I1050I|ABCC1_ENST00000351154.5_Silent_p.I1047I|ABCC1_ENST00000349029.5_Silent_p.I991I	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1106	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	GTGCCTGCATCGTTATCCTGC	0.567																																						ENST00000399408.2																			0				breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56						c.(3346-3348)atC>atT		ATP-binding cassette, sub-family C (CFTR/MRP), member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						62.0	68.0	66.0					16																	16208861		2153	4276	6429	SO:0001819	synonymous_variant	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16208861C>T	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.3318C>T	16.37:g.16208861C>T						ABCC1_ENST00000399410.3_Silent_p.I1106I|ABCC1_ENST00000346370.5_Silent_p.I1050I|ABCC1_ENST00000345148.5_Silent_p.I1106I|ABCC1_ENST00000351154.5_Silent_p.I1047I|ABCC1_ENST00000349029.5_Silent_p.I991I	p.I1116I			P33527	MRP1_HUMAN			24	3523	+			1106			ABC transmembrane type-1 2.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Silent	SNP	ENST00000399410.3	37	c.3348C>T	CCDS42122.1																																																																																				0.567	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		11	35	0	0	0	1	0	11	35				
SH3TC2	79628	broad.mit.edu	37	5	148406460	148406460	+	Missense_Mutation	SNP	C	C	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr5:148406460C>A	ENST00000515425.1	-	11	2936	c.2835G>T	c.(2833-2835)atG>atT	p.M945I	SH3TC2_ENST00000394358.2_Missense_Mutation_p.M830I|SH3TC2_ENST00000538184.1_Missense_Mutation_p.M492I|SH3TC2_ENST00000512049.1_Missense_Mutation_p.M938I|SH3TC2_ENST00000513340.1_5'Flank	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	945					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGCAATGCCATTTCATAAC	0.443																																						ENST00000538184.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39						c.(1474-1476)atG>atT		SH3 domain and tetratricopeptide repeats 2							149.0	150.0	150.0					5																	148406460		2203	4300	6503	SO:0001583	missense	79628						binding	g.chr5:148406460C>A	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.2835G>T	5.37:g.148406460C>A	ENSP00000423660:p.Met945Ile					SH3TC2_ENST00000515425.1_Missense_Mutation_p.M945I|SH3TC2_ENST00000512049.1_Missense_Mutation_p.M938I|SH3TC2_ENST00000394358.2_Missense_Mutation_p.M830I	p.M492I			Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	2364	-			945					B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	c.1476G>T	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	C	7.617	0.675985	0.14841	.	.	ENSG00000169247	ENST00000538184;ENST00000515425;ENST00000512049;ENST00000394358	T;T;T;T	0.76839	-1.05;-0.95;-0.95;-1.05	6.02	5.15	0.70609	Tetratricopeptide-like helical (1);	0.252926	0.44285	D	0.000477	T	0.71195	0.3311	L	0.52573	1.65	0.36794	D	0.885015	B;B;B;B	0.21606	0.019;0.023;0.058;0.023	B;B;B;B	0.18263	0.02;0.013;0.021;0.013	T	0.71213	-0.4659	10	0.39692	T	0.17	-7.41	11.3034	0.49320	0.1274:0.8065:0.0:0.0661	.	830;938;945;945	C9JLC3;Q14CC0;E9PDF1;Q8TF17	.;.;.;S3TC2_HUMAN	I	492;945;938;830	ENSP00000441427:M492I;ENSP00000423660:M945I;ENSP00000421860:M938I;ENSP00000377886:M830I	ENSP00000377886:M830I	M	-	3	0	SH3TC2	148386653	0.979000	0.34478	0.994000	0.49952	0.539000	0.34962	1.543000	0.36147	1.547000	0.49401	0.650000	0.86243	ATG		0.443	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		17	204	1	0	1.67942e-08	1	1.76116e-08	17	204				
DNAH2	146754	broad.mit.edu	37	17	7701546	7701546	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr17:7701546C>T	ENST00000572933.1	+	54	9762	c.8302C>T	c.(8302-8304)Cgc>Tgc	p.R2768C	DNAH2_ENST00000389173.2_Missense_Mutation_p.R2768C			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2768	AAA 4. {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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GGGCAGCGGACGCCAGAGTCT	0.607																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(8302-8304)Cgc>Tgc		dynein, axonemal, heavy chain 2							56.0	56.0	56.0					17																	7701546		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7701546C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.8302C>T	17.37:g.7701546C>T	ENSP00000458355:p.Arg2768Cys					DNAH2_ENST00000389173.2_Missense_Mutation_p.R2768C	p.R2768C			Q9P225	DYH2_HUMAN			54	9762	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2768			AAA 4 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.8302C>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.196618	0.58126	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.41400	1.0	5.6	4.61	0.57282	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.64402	D	0.000001	T	0.74665	0.3746	H	0.97131	3.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82546	-0.0403	10	0.87932	D	0	.	12.32	0.54979	0.3175:0.6825:0.0:0.0	.	2768	Q9P225	DYH2_HUMAN	C	2768	ENSP00000373825:R2768C	ENSP00000353818:R2768C	R	+	1	0	DNAH2	7642271	0.751000	0.28327	0.995000	0.50966	0.373000	0.29922	1.361000	0.34136	1.305000	0.44909	0.455000	0.32223	CGC		0.607	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		48	33	0	0	0	1	0	48	33				
MUC4	4585	broad.mit.edu	37	3	195515500	195515500	+	Missense_Mutation	SNP	G	G	A	rs374537854		TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr3:195515500G>A	ENST00000463781.3	-	2	3410	c.2951C>T	c.(2950-2952)tCg>tTg	p.S984L	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S984L|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	989	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTGGATGCCGAGGAAGCGTA	0.577																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2950-2952)tCg>tTg		mucin 4, cell surface associated		G	,,LEU/SER	1,4391		0,1,2195	79.0	73.0	75.0		,,2951		0.0	3		75	1,8561		0,1,4280	no	intron,intron,missense	MUC4	NM_004532.5,NM_138297.4,NM_018406.6	,,145	0,2,6475	AA,AG,GG		0.0117,0.0228,0.0154	,,benign	,,984/5413	195515500	2,12952	2196	4281	6477	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195515500G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.2951C>T	3.37:g.195515500G>A	ENSP00000417498:p.Ser984Leu					MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S984L	p.S984L	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	3410	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	989			Ser-rich.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.2951C>T	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	5.418	0.262320	0.10239	2.28E-4	1.17E-4	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.36699	1.24;1.24	.	.	.	.	17.197400	0.00508	U	0.000177	T	0.19287	0.0463	N	0.19112	0.55	0.09310	N	1	B	0.26975	0.165	B	0.18263	0.021	T	0.03413	-1.1039	9	0.32370	T	0.25	.	1.4205	0.02311	0.3306:0.0:0.3283:0.341	.	984	E7ESK3	.	L	984;984;958	ENSP00000417498:S984L;ENSP00000420243:S984L	ENSP00000376209:S958L	S	-	2	0	MUC4	196999895	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.555000	0.23422	-1.138000	0.02884	-1.217000	0.01609	TCG		0.577	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		4	43	0	0	0	1	0	4	43				
NIN	51199	broad.mit.edu	37	14	51238126	51238126	+	Missense_Mutation	SNP	T	T	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr14:51238126T>A	ENST00000382041.3	-	10	1232	c.1042A>T	c.(1042-1044)Aat>Tat	p.N348Y	NIN_ENST00000530997.2_Missense_Mutation_p.N348Y|NIN_ENST00000382043.4_Missense_Mutation_p.N348Y|NIN_ENST00000389868.3_Missense_Mutation_p.N348Y|NIN_ENST00000453196.1_Missense_Mutation_p.N348Y|NIN_ENST00000245441.5_Missense_Mutation_p.N348Y|NIN_ENST00000324330.9_Missense_Mutation_p.N348Y	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	348	EF-hand 5. {ECO:0000255|PROSITE- ProRule:PRU00448}.				centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					AAAAGTTCATTTTCAAGGGCC	0.443			T	PDGFRB	MPD																																	ENST00000245441.5				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71						c.(1042-1044)Aat>Tat		ninein (GSK3B interacting protein)							113.0	109.0	110.0					14																	51238126		2203	4300	6503	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51238126T>A	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.1042A>T	14.37:g.51238126T>A	ENSP00000371472:p.Asn348Tyr					NIN_ENST00000530997.2_Missense_Mutation_p.N348Y|NIN_ENST00000389868.3_Missense_Mutation_p.N348Y|NIN_ENST00000382041.3_Missense_Mutation_p.N348Y|NIN_ENST00000382043.4_Missense_Mutation_p.N348Y|NIN_ENST00000453196.1_Missense_Mutation_p.N348Y|NIN_ENST00000324330.9_Missense_Mutation_p.N348Y	p.N348Y	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN			10	1232	-	all_epithelial(31;0.00244)|Breast(41;0.127)		348			EF-hand 5.		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.1042A>T	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.422598	0.83559	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196;ENST00000453401	T;T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87;1.87	5.67	5.67	0.87782	EF-hand-like domain (1);	0.084158	0.85682	D	0.000000	T	0.46658	0.1404	M	0.62723	1.935	0.52099	D	0.999941	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.993;1.0	D;D;D;P;D	0.91635	0.991;0.984;0.999;0.888;0.998	T	0.44544	-0.9321	10	0.62326	D	0.03	-18.977	11.1434	0.48415	0.0:0.0:0.1541:0.8459	.	354;348;348;348;348	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.;.;NIN_HUMAN;.;.	Y	348;348;348;348;354;348;348;348;310	ENSP00000245441:N348Y;ENSP00000374518:N348Y;ENSP00000371474:N348Y;ENSP00000371472:N348Y;ENSP00000324210:N348Y;ENSP00000412391:N348Y;ENSP00000398641:N310Y	ENSP00000245441:N348Y	N	-	1	0	NIN	50307876	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.870000	0.69620	2.157000	0.67596	0.454000	0.30748	AAT		0.443	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		27	48	0	0	0	1	0	27	48				
WWC2	80014	broad.mit.edu	37	4	184202007	184202007	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr4:184202007G>C	ENST00000403733.3	+	17	2840	c.2641G>C	c.(2641-2643)Gaa>Caa	p.E881Q	WWC2_ENST00000504005.1_Missense_Mutation_p.E563Q|WWC2_ENST00000513834.1_Missense_Mutation_p.E832Q|WWC2_ENST00000448232.2_Missense_Mutation_p.E881Q|WWC2_ENST00000508747.1_5'Flank	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	881					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		agaagaagaagaagaatcagg	0.443																																						ENST00000403733.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32						c.(2641-2643)Gaa>Caa		WW and C2 domain containing 2							78.0	62.0	68.0					4																	184202007		2203	4300	6503	SO:0001583	missense	80014							g.chr4:184202007G>C	BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.2641G>C	4.37:g.184202007G>C	ENSP00000384222:p.Glu881Gln					WWC2_ENST00000504005.1_Missense_Mutation_p.E563Q|WWC2_ENST00000513834.1_Missense_Mutation_p.E832Q|WWC2_ENST00000448232.2_Missense_Mutation_p.E881Q	p.E881Q	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)	17	2840	+		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)	881					Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Missense_Mutation	SNP	ENST00000403733.3	37	c.2641G>C	CCDS34109.2	.	.	.	.	.	.	.	.	.	.	G	12.39	1.923422	0.33908	.	.	ENSG00000151718	ENST00000403733;ENST00000513834;ENST00000448232;ENST00000504005	T;T;T;T	0.06608	3.48;3.48;3.28;3.34	4.32	3.46	0.39613	.	1.809020	0.03450	N	0.210523	T	0.13586	0.0329	M	0.70595	2.14	0.80722	D	1	B;B;B	0.21688	0.006;0.059;0.047	B;B;B	0.24701	0.023;0.05;0.055	T	0.38607	-0.9653	10	0.23891	T	0.37	-6.6724	13.7941	0.63160	0.0:0.1551:0.8448:0.0	.	881;881;832	Q6AWC2-6;Q6AWC2;Q6AWC2-4	.;WWC2_HUMAN;.	Q	881;832;881;563	ENSP00000384222:E881Q;ENSP00000425054:E832Q;ENSP00000398577:E881Q;ENSP00000427569:E563Q	ENSP00000384222:E881Q	E	+	1	0	WWC2	184439001	0.989000	0.36119	0.025000	0.17156	0.007000	0.05969	1.979000	0.40608	1.030000	0.39839	0.455000	0.32223	GAA		0.443	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	NM_024949		3	2	0	0	0	1	0	3	2				
SLCO1A2	6579	broad.mit.edu	37	12	21457366	21457366	+	Missense_Mutation	SNP	T	T	C			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr12:21457366T>C	ENST00000307378.6	-	7	1304	c.584A>G	c.(583-585)tAt>tGt	p.Y195C	SLCO1A2_ENST00000458504.1_Missense_Mutation_p.Y63C|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.Y195C|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.Y63C|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.Y193C	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	195					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	CTTACCAATATATAAAGGAGA	0.343																																						ENST00000307378.6																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						c.(583-585)tAt>tGt		solute carrier organic anion transporter family, member 1A2							46.0	49.0	48.0					12																	21457366		2203	4300	6503	SO:0001583	missense	6579				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21457366T>C		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.584A>G	12.37:g.21457366T>C	ENSP00000305974:p.Tyr195Cys					SLCO1A2_ENST00000458504.1_Missense_Mutation_p.Y63C|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.Y195C|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.Y193C|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.Y63C	p.Y195C	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN			7	1304	-			195					Q9UGP7|Q9UL38	Missense_Mutation	SNP	ENST00000307378.6	37	c.584A>G	CCDS8686.1	.	.	.	.	.	.	.	.	.	.	T	19.71	3.878925	0.72294	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000458504;ENST00000537524;ENST00000390670	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79	4.75	4.75	0.60458	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.065124	0.64402	D	0.000005	T	0.77837	0.4190	H	0.96518	3.835	0.46823	D	0.99921	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.992;0.986;0.999	D	0.85308	0.1077	10	0.87932	D	0	.	14.0864	0.64959	0.0:0.0:0.0:1.0	.	175;193;195	Q8IV69;P46721-2;P46721	.;.;SO1A2_HUMAN	C	195;195;63;63;193	ENSP00000305974:Y195C;ENSP00000393973:Y195C;ENSP00000394854:Y63C;ENSP00000439401:Y63C;ENSP00000375088:Y193C	ENSP00000305974:Y195C	Y	-	2	0	SLCO1A2	21348633	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.217000	0.77982	1.995000	0.58328	0.482000	0.46254	TAT		0.343	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094		26	28	0	0	0	1	0	26	28				
SASH1	23328	broad.mit.edu	37	6	148854978	148854978	+	Silent	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr6:148854978C>T	ENST00000367467.3	+	15	2281	c.1806C>T	c.(1804-1806)gtC>gtT	p.V602V		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	602	SH3.				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)		ACAACAAAGTCGGCACGTTCA	0.552																																						ENST00000367467.3																			0				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						c.(1804-1806)gtC>gtT		SAM and SH3 domain containing 1							124.0	113.0	117.0					6																	148854978		2203	4300	6503	SO:0001819	synonymous_variant	23328						protein binding	g.chr6:148854978C>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.1806C>T	6.37:g.148854978C>T							p.V602V	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	15	2281	+		Ovarian(120;0.0169)	602			SH3.		Q5TGN5|Q8TAI0|Q9H7R7	Silent	SNP	ENST00000367467.3	37	c.1806C>T	CCDS5212.1																																																																																				0.552	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		32	77	0	0	0	1	0	32	77				
NDRG2	57447	broad.mit.edu	37	14	21487277	21487277	+	Silent	SNP	G	G	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr14:21487277G>A	ENST00000556147.1	-	11	1699	c.759C>T	c.(757-759)ctC>ctT	p.L253L	NDRG2_ENST00000554143.1_Silent_p.L239L|NDRG2_ENST00000553503.1_Silent_p.L239L|NDRG2_ENST00000554104.1_Silent_p.L166L|NDRG2_ENST00000397851.2_Silent_p.L253L|NDRG2_ENST00000298684.5_Silent_p.L210L|NDRG2_ENST00000397853.3_Silent_p.L253L|NDRG2_ENST00000397858.1_Silent_p.L253L|NDRG2_ENST00000397847.2_Silent_p.L253L|NDRG2_ENST00000397855.3_Silent_p.L210L|NDRG2_ENST00000554277.1_5'UTR|NDRG2_ENST00000403829.3_Silent_p.L249L|NDRG2_ENST00000555158.1_Silent_p.L239L|NDRG2_ENST00000397844.2_Silent_p.L239L|NDRG2_ENST00000298687.5_Silent_p.L253L|NDRG2_ENST00000397856.3_Silent_p.L239L|NDRG2_ENST00000360463.3_Silent_p.L239L|NDRG2_ENST00000350792.3_Silent_p.L239L			Q9UN36	NDRG2_HUMAN	NDRG family member 2	253					cell differentiation (GO:0030154)|negative regulation of cytokine production (GO:0001818)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of platelet-derived growth factor production (GO:0090361)|regulation of vascular endothelial growth factor production (GO:0010574)|substantia nigra development (GO:0021762)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		AGTCTTACCTGAGGGTGATAT	0.463																																						ENST00000556147.1																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(757-759)ctC>ctT		NDRG family member 2							105.0	94.0	97.0					14																	21487277		2203	4300	6503	SO:0001819	synonymous_variant	57447				cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm		g.chr14:21487277G>A	AB033074	CCDS9564.1, CCDS9565.1, CCDS61384.1, CCDS61386.1, CCDS73613.1	14q11.2	2008-07-09			ENSG00000165795	ENSG00000165795			14460	protein-coding gene	gene with protein product		605272				10831399	Standard	NM_201535		Approved	KIAA1248, SYLD	uc001vyx.3	Q9UN36	OTTHUMG00000029619	ENST00000556147.1:c.759C>T	14.37:g.21487277G>A						NDRG2_ENST00000298684.5_Silent_p.L210L|NDRG2_ENST00000397853.3_Silent_p.L253L|NDRG2_ENST00000397858.1_Silent_p.L253L|NDRG2_ENST00000554277.1_5'UTR|NDRG2_ENST00000397844.2_Silent_p.L239L|NDRG2_ENST00000397851.2_Silent_p.L253L|NDRG2_ENST00000397847.2_Silent_p.L253L|NDRG2_ENST00000360463.3_Silent_p.L239L|NDRG2_ENST00000554104.1_Silent_p.L166L|NDRG2_ENST00000298687.5_Silent_p.L253L|NDRG2_ENST00000350792.3_Silent_p.L239L|NDRG2_ENST00000397855.3_Silent_p.L210L|NDRG2_ENST00000553503.1_Silent_p.L239L|NDRG2_ENST00000554143.1_Silent_p.L239L|NDRG2_ENST00000403829.3_Silent_p.L249L|NDRG2_ENST00000555158.1_Silent_p.L239L|NDRG2_ENST00000397856.3_Silent_p.L239L	p.L253L			Q9UN36	NDRG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)	11	1699	-	all_cancers(95;0.00185)		253					B3KUE3|B4DE86|B7WP11|B7WPD5|D3DS07|D3DS10|Q567T1|Q68DW2|Q86U08|Q86U46|Q96FD3|Q96FT0|Q96JU0|Q96PN0|Q9BQH5|Q9ULH2	Silent	SNP	ENST00000556147.1	37	c.759C>T	CCDS9565.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338320	0.41398	.	.	ENSG00000165795	ENST00000553593	.	.	.	5.26	4.33	0.51752	.	.	.	.	.	T	0.58779	0.2146	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54275	-0.8318	4	.	.	.	-12.8204	8.9513	0.35790	0.0:0.1595:0.6756:0.1649	.	.	.	.	L	169	.	.	S	-	2	0	NDRG2	20557117	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.145000	0.31577	2.735000	0.93741	0.563000	0.77884	TCA		0.463	NDRG2-013	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411717.1			19	46	0	0	0	1	0	19	46				
SNIP1	79753	broad.mit.edu	37	1	38003454	38003454	+	Silent	SNP	G	G	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr1:38003454G>A	ENST00000296215.6	-	4	1158	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F	SNIP1_ENST00000468040.1_5'Flank	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	362					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				CTCTGCTACTGAATCCAAATT	0.428																																						ENST00000296215.6																			0				breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25						c.(1084-1086)ttC>ttT		Smad nuclear interacting protein 1							291.0	258.0	269.0					1																	38003454		2203	4300	6503	SO:0001819	synonymous_variant	79753				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding	g.chr1:38003454G>A		CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877			30587	protein-coding gene	gene with protein product		608241				10887155, 15378006	Standard	NM_024700		Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225	ENST00000296215.6:c.1086C>T	1.37:g.38003454G>A							p.F362F	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN			4	1158	-		Myeloproliferative disorder(586;0.0393)	362					Q96SP9|Q9H9T7	Silent	SNP	ENST00000296215.6	37	c.1086C>T	CCDS419.1																																																																																				0.428	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012169.2	NM_024700		38	101	0	0	0	1	0	38	101				
LAG3	3902	broad.mit.edu	37	12	6884441	6884441	+	Missense_Mutation	SNP	C	C	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr12:6884441C>A	ENST00000203629.2	+	5	1117	c.784C>A	c.(784-786)Ctg>Atg	p.L262M	LAG3_ENST00000441671.2_Missense_Mutation_p.L262M	NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	262					cell surface receptor signaling pathway (GO:0007166)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell activation (GO:0050868)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|MHC class II protein binding (GO:0042289)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CTCTTCAGGTCTGGAGCCCCC	0.602																																						ENST00000203629.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(784-786)Ctg>Atg		lymphocyte-activation gene 3							99.0	106.0	104.0					12																	6884441		2203	4300	6503	SO:0001583	missense	3902					integral to membrane	antigen binding|MHC class II protein binding	g.chr12:6884441C>A		CCDS8561.1	12p13.3	2013-01-11			ENSG00000089692	ENSG00000089692		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6476	protein-coding gene	gene with protein product		153337					Standard	NM_002286		Approved	CD223	uc001qqt.4	P18627	OTTHUMG00000169197	ENST00000203629.2:c.784C>A	12.37:g.6884441C>A	ENSP00000203629:p.Leu262Met					LAG3_ENST00000441671.2_Missense_Mutation_p.L262M	p.L262M	NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN			5	1117	+			262					A8K7T9|Q7Z643	Missense_Mutation	SNP	ENST00000203629.2	37	c.784C>A	CCDS8561.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610625	0.46527	.	.	ENSG00000089692	ENST00000441671;ENST00000203629	T;T	0.16897	2.31;2.5	5.55	5.55	0.83447	.	0.243772	0.29152	N	0.012993	T	0.40094	0.1103	M	0.72118	2.19	0.35380	D	0.789859	D;D	0.69078	0.997;0.997	D;D	0.71870	0.975;0.964	T	0.45440	-0.9261	10	0.38643	T	0.18	-2.3868	15.0046	0.71501	0.0:1.0:0.0:0.0	.	262;262	P18627;Q7Z643	LAG3_HUMAN;.	M	262	ENSP00000413825:L262M;ENSP00000203629:L262M	ENSP00000203629:L262M	L	+	1	2	LAG3	6754702	0.996000	0.38824	0.996000	0.52242	0.227000	0.25037	2.526000	0.45607	2.623000	0.88846	0.462000	0.41574	CTG		0.602	LAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402846.1			41	160	1	0	7.63091e-17	1	8.33422e-17	41	160				
PTCH1	5727	broad.mit.edu	37	9	98220567	98220567	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr9:98220567C>T	ENST00000331920.6	-	18	3195	c.2896G>A	c.(2896-2898)Gca>Aca	p.A966T	PTCH1_ENST00000429896.2_Missense_Mutation_p.A815T|PTCH1_ENST00000375274.2_Missense_Mutation_p.A965T|PTCH1_ENST00000418258.1_Missense_Mutation_p.A815T|PTCH1_ENST00000437951.1_Missense_Mutation_p.A900T|PTCH1_ENST00000430669.2_Missense_Mutation_p.A900T|PTCH1_ENST00000421141.1_Missense_Mutation_p.A815T	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	966					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.I963fs*2(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				ATGGGCTCTGCTGCCGGGACT	0.512																																						ENST00000430669.2																			1	Deletion - Frameshift(1)	p.I963fs*2(1)	central_nervous_system(1)	NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490						c.(2698-2700)Gca>Aca		patched 1							32.0	28.0	29.0					9																	98220567		2203	4300	6503	SO:0001583	missense	5727				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98220567C>T	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.2896G>A	9.37:g.98220567C>T	ENSP00000332353:p.Ala966Thr					PTCH1_ENST00000418258.1_Missense_Mutation_p.A815T|PTCH1_ENST00000421141.1_Missense_Mutation_p.A815T|PTCH1_ENST00000429896.2_Missense_Mutation_p.A815T|PTCH1_ENST00000375274.2_Missense_Mutation_p.A965T|PTCH1_ENST00000437951.1_Missense_Mutation_p.A900T|PTCH1_ENST00000331920.6_Missense_Mutation_p.A966T	p.A900T			Q13635	PTC1_HUMAN			18	3283	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	966					A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	c.2698G>A	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	C	32	5.125176	0.94429	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000375275;ENST00000430669;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.91351	-2.82;-2.81;-2.8;-2.8;-2.81;-2.8;-2.83	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.94238	0.8150	M	0.79926	2.475	0.80722	D	1	P;D;D	0.58970	0.845;0.984;0.967	P;P;P	0.58391	0.646;0.785;0.838	D	0.92337	0.5878	10	0.23891	T	0.37	-16.2095	18.7069	0.91641	0.0:1.0:0.0:0.0	.	900;965;966	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	T	966;900;815;815;402;900;815;965	ENSP00000332353:A966T;ENSP00000389744:A900T;ENSP00000399981:A815T;ENSP00000396135:A815T;ENSP00000410287:A900T;ENSP00000414823:A815T;ENSP00000364423:A965T	ENSP00000332353:A966T	A	-	1	0	PTCH1	97260388	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	7.278000	0.78587	2.724000	0.93272	0.462000	0.41574	GCA		0.512	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		12	15	0	0	0	1	0	12	15				
RALYL	138046	broad.mit.edu	37	8	85774568	85774568	+	Missense_Mutation	SNP	C	C	T	rs527942610		TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr8:85774568C>T	ENST00000521268.1	+	6	1556	c.451C>T	c.(451-453)Cgt>Tgt	p.R151C	RALYL_ENST00000523850.1_Missense_Mutation_p.R78C|RALYL_ENST00000522455.1_Missense_Mutation_p.R151C|RALYL_ENST00000521376.1_Missense_Mutation_p.R62C|RALYL_ENST00000518566.1_Missense_Mutation_p.R140C|RALYL_ENST00000517638.1_Missense_Mutation_p.R164C|RALYL_ENST00000521695.1_Missense_Mutation_p.R151C	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	151							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R151G(4)		endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						TCCACCTCCCCGTGCAGTAAT	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		15921	0.0		0.001	False		,,,				2504	0.0					ENST00000521268.1																			4	Substitution - Missense(4)	p.R151G(4)	lung(4)	endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						c.(451-453)Cgt>Tgt		RALY RNA binding protein-like							56.0	56.0	56.0					8																	85774568		1909	4128	6037	SO:0001583	missense	138046						identical protein binding|nucleotide binding|RNA binding	g.chr8:85774568C>T		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"""RNA binding motif (RRM) containing"""	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.451C>T	8.37:g.85774568C>T	ENSP00000430367:p.Arg151Cys					RALYL_ENST00000517638.1_Missense_Mutation_p.R164C|RALYL_ENST00000522455.1_Missense_Mutation_p.R151C|RALYL_ENST00000521376.1_Missense_Mutation_p.R62C|RALYL_ENST00000518566.1_Missense_Mutation_p.R140C|RALYL_ENST00000521695.1_Missense_Mutation_p.R151C|RALYL_ENST00000523850.1_Missense_Mutation_p.R78C	p.R151C	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN			6	1556	+			151					B3KTH2|G3V129|Q6ZW87|Q8N1C2	Missense_Mutation	SNP	ENST00000521268.1	37	c.451C>T	CCDS55253.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810460	0.70797	.	.	ENSG00000184672	ENST00000522455;ENST00000521695;ENST00000521268;ENST00000518566;ENST00000517638;ENST00000523850;ENST00000521376	T;T;T;T;T;T;T	0.23754	2.59;2.59;2.59;2.53;2.58;2.13;1.89	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.53948	0.1828	M	0.75264	2.295	0.54753	D	0.999986	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	P;D;D;D;D	0.87578	0.899;0.997;0.998;0.997;0.997	T	0.55692	-0.8101	10	0.59425	D	0.04	-3.6618	19.1979	0.93696	0.0:1.0:0.0:0.0	.	140;151;78;164;151	B3KT61;B3KSX3;Q86SE5-2;G3V129;Q86SE5	.;.;.;.;RALYL_HUMAN	C	151;151;151;140;164;78;62	ENSP00000430394:R151C;ENSP00000428667:R151C;ENSP00000430367:R151C;ENSP00000430065:R140C;ENSP00000430128:R164C;ENSP00000428807:R78C;ENSP00000428310:R62C	ENSP00000430128:R164C	R	+	1	0	RALYL	85937123	0.997000	0.39634	0.670000	0.29842	0.457000	0.32468	4.017000	0.57167	2.599000	0.87857	0.551000	0.68910	CGT		0.502	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1			29	14	0	0	0	1	0	29	14				
MUC16	94025	broad.mit.edu	37	19	8987333	8987333	+	Splice_Site	SNP	G	G	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr19:8987333G>A	ENST00000397910.4	-	68	41957	c.41754C>T	c.(41752-41754)acC>acT	p.T13918T	MUC16_ENST00000380951.5_Splice_Site_p.T559T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13943				Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T13918T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGACCACCCCGGCTAGGGCAG	0.597																																						ENST00000397910.4																			1	Substitution - coding silent(1)	p.T13918T(1)	endometrium(1)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.e68-1		mucin 16, cell surface associated							75.0	70.0	72.0					19																	8987333		2096	4236	6332	SO:0001630	splice_region_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8987333G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.41753-1C>T	19.37:g.8987333G>A						MUC16_ENST00000380951.5_Splice_Site_p.T559_splice	p.T13918_splice	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			68	41957	-			13921	Missing (in Ref. 3; AAK74120).				Q6ZQW5|Q96RK2	Splice_Site	SNP	ENST00000397910.4	37	c.41752_splice	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	G	1.934	-0.445200	0.04604	.	.	ENSG00000181143	ENST00000542240	.	.	.	3.45	-1.76	0.08006	.	.	.	.	.	T	0.39036	0.1063	.	.	.	.	.	.	.	.	.	.	.	.	T	0.47983	-0.9074	3	.	.	.	.	8.1489	0.31128	0.4404:0.0:0.5596:0.0	.	.	.	.	L	758	.	.	P	-	2	0	MUC16	8848333	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.704000	0.05058	-0.438000	0.07232	-0.384000	0.06662	CCG		0.597	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	Silent	9	23	0	0	0	1	0	9	23				
KIF20B	9585	broad.mit.edu	37	10	91512372	91512372	+	Missense_Mutation	SNP	A	A	G			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr10:91512372A>G	ENST00000371728.3	+	25	4336	c.4271A>G	c.(4270-4272)aAt>aGt	p.N1424S	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000416354.1_Missense_Mutation_p.N1454S|KIF20B_ENST00000260753.4_Missense_Mutation_p.N1384S|KIF20B_ENST00000394289.2_Missense_Mutation_p.N1424S	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1424					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ACCAAAAACAATCAAAGGTCA	0.299																																						ENST00000416354.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						c.(4360-4362)aAt>aGt		kinesin family member 20B							85.0	82.0	83.0					10																	91512372		2202	4299	6501	SO:0001583	missense	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91512372A>G	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.4271A>G	10.37:g.91512372A>G	ENSP00000360793:p.Asn1424Ser					KIF20B_ENST00000394289.2_Missense_Mutation_p.N1424S|KIF20B_ENST00000371728.3_Missense_Mutation_p.N1424S|KIF20B_ENST00000260753.4_Missense_Mutation_p.N1384S|KIF20B_ENST00000478929.1_3'UTR	p.N1454S			Q96Q89	KI20B_HUMAN			25	4433	+			1424					A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37	c.4361A>G		.	.	.	.	.	.	.	.	.	.	A	3.769	-0.048095	0.07407	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.52	4.38	0.52667	.	0.754935	0.11826	N	0.525700	T	0.42607	0.1210	L	0.57536	1.79	0.09310	N	1	B;B	0.25719	0.132;0.047	B;B	0.20767	0.031;0.014	T	0.31052	-0.9957	10	0.34782	T	0.22	-7.5075	8.3278	0.32167	0.91:0.0:0.09:0.0	.	1424;1384	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	S	1384;1454;1424;1424	ENSP00000260753:N1384S;ENSP00000411545:N1454S;ENSP00000377830:N1424S;ENSP00000360793:N1424S	ENSP00000260753:N1384S	N	+	2	0	KIF20B	91502352	0.000000	0.05858	0.032000	0.17829	0.024000	0.10985	0.273000	0.18662	1.020000	0.39573	0.528000	0.53228	AAT		0.299	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		12	37	0	0	0	1	0	12	37				
PRKCG	5582	broad.mit.edu	37	19	54387494	54387494	+	Silent	SNP	G	G	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr19:54387494G>A	ENST00000263431.3	+	3	564	c.282G>A	c.(280-282)acG>acA	p.T94T	PRKCG_ENST00000536044.1_Silent_p.T94T|PRKCG_ENST00000540413.1_Silent_p.T94T|PRKCG_ENST00000542049.1_Missense_Mutation_p.G19R	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	94					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	GCCCCCAGACGGACGTGAGTG	0.582																																						ENST00000542049.1																			0				large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10						c.(55-57)Gga>Aga		protein kinase C, gamma							71.0	66.0	68.0					19																	54387494		2203	4300	6503	SO:0001819	synonymous_variant	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54387494G>A	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.282G>A	19.37:g.54387494G>A						PRKCG_ENST00000540413.1_Silent_p.T94T|PRKCG_ENST00000536044.1_Silent_p.T94T|PRKCG_ENST00000263431.3_Silent_p.T94T	p.G19R			P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	2	112	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		0					B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	c.55G>A	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.896567	0.52121	.	.	ENSG00000126583	ENST00000542049	T	0.70282	-0.47	4.54	0.644	0.17776	.	.	.	.	.	T	0.53626	0.1808	.	.	.	0.25361	N	0.988784	B	0.09022	0.002	B	0.01281	0.0	T	0.42732	-0.9434	8	0.41790	T	0.15	.	5.632	0.17516	0.5058:0.0:0.4942:0.0	.	19	B7Z8Q0	.	R	19	ENSP00000438090:G19R	ENSP00000438090:G19R	G	+	1	0	PRKCG	59079306	0.991000	0.36638	1.000000	0.80357	0.965000	0.64279	0.241000	0.18065	0.461000	0.27071	0.313000	0.20887	GGA		0.582	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		24	67	0	0	0	1	0	24	67				
DOCK1	1793	broad.mit.edu	37	10	128795100	128795100	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr10:128795100C>T	ENST00000280333.6	+	7	671	c.562C>T	c.(562-564)Cat>Tat	p.H188Y		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	188					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.H188Y(1)		NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CTTCAGAGCTCATGAAATAGC	0.363																																						ENST00000280333.6																			1	Substitution - Missense(1)	p.H188Y(1)	NS(1)	NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72						c.(562-564)Cat>Tat		dedicator of cytokinesis 1							185.0	178.0	180.0					10																	128795100		1853	4103	5956	SO:0001583	missense	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:128795100C>T	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.562C>T	10.37:g.128795100C>T	ENSP00000280333:p.His188Tyr						p.H188Y	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	7	671	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	188					A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37	c.562C>T		.	.	.	.	.	.	.	.	.	.	C	25.0	4.596147	0.86953	.	.	ENSG00000150760	ENST00000280333	T	0.58358	0.34	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.77198	0.4095	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;0.987	D;P	0.80764	0.994;0.898	T	0.81387	-0.0956	10	0.87932	D	0	.	18.7285	0.91724	0.0:1.0:0.0:0.0	.	188;188	B2RUU3;Q14185	.;DOCK1_HUMAN	Y	188	ENSP00000280333:H188Y	ENSP00000280333:H188Y	H	+	1	0	DOCK1	128685090	1.000000	0.71417	0.226000	0.23910	0.982000	0.71751	7.181000	0.77682	2.665000	0.90641	0.655000	0.94253	CAT		0.363	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		60	57	0	0	0	1	0	60	57				
CD5L	922	broad.mit.edu	37	1	157805814	157805814	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr1:157805814G>A	ENST00000368174.4	-	3	283	c.187C>T	c.(187-189)Cgg>Tgg	p.R63W	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	63	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCCAGCTCCCGGCACAACACA	0.577																																						ENST00000368174.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52						c.(187-189)Cgg>Tgg		CD5 molecule-like							128.0	130.0	130.0					1																	157805814		2203	4300	6503	SO:0001583	missense	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157805814G>A	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.187C>T	1.37:g.157805814G>A	ENSP00000357156:p.Arg63Trp					CD5L_ENST00000484609.1_5'UTR	p.R63W	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		3	283	-	all_hematologic(112;0.0378)		63			SRCR 1.		A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	c.187C>T	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.666152	0.47677	.	.	ENSG00000073754	ENST00000368174	T	0.44482	0.92	4.85	1.82	0.25136	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.343624	0.21072	N	0.080652	T	0.51126	0.1656	H	0.96833	3.89	0.30263	N	0.792999	D	0.69078	0.997	P	0.56788	0.806	T	0.51228	-0.8732	10	0.72032	D	0.01	.	3.1111	0.06359	0.0872:0.1533:0.4444:0.3151	.	63	O43866	CD5L_HUMAN	W	63	ENSP00000357156:R63W	ENSP00000357156:R63W	R	-	1	2	CD5L	156072438	0.008000	0.16893	0.997000	0.53966	0.758000	0.43043	0.000000	0.12993	0.202000	0.20498	0.563000	0.77884	CGG		0.577	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		87	67	0	0	0	1	0	87	67				
NPR3	4883	broad.mit.edu	37	5	32712325	32712325	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr5:32712325C>T	ENST00000265074.8	+	1	786	c.443C>T	c.(442-444)tCg>tTg	p.S148L	NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415167.2_Missense_Mutation_p.S148L|NPR3_ENST00000415685.2_Intron	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	148					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	CGGCTTGCATCGCACTGGGAC	0.701																																						ENST00000265074.8																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(442-444)tCg>tTg		natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	Nesiritide(DB04899)						45.0	51.0	49.0					5																	32712325		1990	4125	6115	SO:0001583	missense	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32712325C>T		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.443C>T	5.37:g.32712325C>T	ENSP00000265074:p.Ser148Leu					NPR3_ENST00000415167.2_Missense_Mutation_p.S148L|NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415685.2_Intron	p.S148L	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN			1	786	+			148					A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	37	c.443C>T	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.538539	0.65085	.	.	ENSG00000113389	ENST00000265074;ENST00000415167	D;D	0.83250	-1.7;-1.7	4.66	3.79	0.43588	Extracellular ligand-binding receptor (1);	0.244488	0.43110	D	0.000616	D	0.87557	0.6207	M	0.79475	2.455	0.80722	D	1	D;D	0.76494	0.999;0.998	P;P	0.55055	0.767;0.704	D	0.88224	0.2899	10	0.56958	D	0.05	-9.6613	12.4316	0.55577	0.0:0.9178:0.0:0.0822	.	148;148	P17342;Q60I31	ANPRC_HUMAN;.	L	148	ENSP00000265074:S148L;ENSP00000398028:S148L	ENSP00000265074:S148L	S	+	2	0	NPR3	32748082	1.000000	0.71417	0.778000	0.31720	0.562000	0.35680	3.624000	0.54231	1.193000	0.43086	0.561000	0.74099	TCG		0.701	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		30	84	0	0	0	1	0	30	84				
SRRM5	100170229	broad.mit.edu	37	19	44118399	44118399	+	Nonsense_Mutation	SNP	C	C	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr19:44118399C>A	ENST00000607544.1	+	3	2448	c.2126C>A	c.(2125-2127)tCa>tAa	p.S709*	SRRM5_ENST00000417606.1_Nonsense_Mutation_p.S709*|SRRM5_ENST00000526798.1_Nonsense_Mutation_p.S724*|ZNF428_ENST00000300811.3_Missense_Mutation_p.D20Y			B3KS81	SRRM5_HUMAN	serine/arginine repetitive matrix 5	709	Ser-rich.									endometrium(11)|kidney(2)|skin(1)|stomach(1)	15						AGGTCTTCATCATCTTCTTCC	0.592																																						ENST00000526798.1																			0				endometrium(11)|kidney(2)|skin(1)|stomach(1)	15						c.(2170-2172)tCa>tAa		serine/arginine repetitive matrix 5							108.0	77.0	88.0					19																	44118399		2203	4300	6503	SO:0001587	stop_gained	100170229							g.chr19:44118399C>A	AK297891	CCDS46095.1	19q13.31	2013-09-20			ENSG00000226763	ENSG00000226763			37248	protein-coding gene	gene with protein product							Standard	NM_001145641		Approved		uc010xwr.2	B3KS81	OTTHUMG00000165480	ENST00000607544.1:c.2126C>A	19.37:g.44118399C>A	ENSP00000476253:p.Ser709*					ZNF428_ENST00000300811.3_Missense_Mutation_p.D20Y|SRRM5_ENST00000607544.1_Nonsense_Mutation_p.S709*|SRRM5_ENST00000417606.1_Nonsense_Mutation_p.S709*	p.S724*			B3KS81	SRRM5_HUMAN			3	2448	+			709					B4DNF0	Nonsense_Mutation	SNP	ENST00000607544.1	37	c.2171C>A	CCDS46095.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	7.086461|7.086461	0.98055|0.98055	.|.	.|.	ENSG00000131116|ENSG00000226763	ENST00000300811;ENST00000391964|ENST00000526798;ENST00000417606	.|.	.|.	.|.	5.14|5.14	4.11|4.11	0.48088|0.48088	.|.	0.125923|.	0.36101|.	N|.	0.002784|.	T|.	0.64182|.	0.2575|.	.|.	.|.	.|.	0.35531|0.35531	D|D	0.80227|0.80227	B|.	0.32968|.	0.392|.	B|.	0.42851|.	0.4|.	T|.	0.74064|.	-0.3785|.	8|.	0.87932|0.87932	D|D	0|0	-3.7879|-3.7879	9.3273|9.3273	0.38001|0.38001	0.0:0.9035:0.0:0.0965|0.0:0.9035:0.0:0.0965	.|.	20|.	Q96B54|.	ZN428_HUMAN|.	Y|X	20|724;709	.|.	ENSP00000300811:D20Y|ENSP00000414512:S709X	D|S	-|+	1|2	0|0	ZNF428|SRRM5	48810239|48810239	0.955000|0.955000	0.32602|0.32602	0.659000|0.659000	0.29680|0.29680	0.452000|0.452000	0.32318|0.32318	2.211000|2.211000	0.42825|0.42825	1.399000|1.399000	0.46721|0.46721	0.561000|0.561000	0.74099|0.74099	GAT|TCA		0.592	SRRM5-001	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000384398.2	NM_001145641		18	33	1	0	2.37509e-13	1	2.5703e-13	18	33				
TPD52	7163	broad.mit.edu	37	8	80992685	80992685	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr8:80992685C>T	ENST00000379097.3	-	1	366	c.4G>A	c.(4-6)Gat>Aat	p.D2N	TPD52_ENST00000520527.1_Missense_Mutation_p.D2N|TPD52_ENST00000448733.2_Missense_Mutation_p.D2N|TPD52_ENST00000518937.1_Intron|TPD52_ENST00000537855.1_Missense_Mutation_p.D2N|TPD52_ENST00000519303.2_Intron|TPD52_ENST00000517427.1_Missense_Mutation_p.D2N|TPD52_ENST00000379096.5_Intron	NM_001025252.1	NP_001020423.1	P55327	TPD52_HUMAN	tumor protein D52	2					anatomical structure morphogenesis (GO:0009653)|B cell differentiation (GO:0030183)|positive regulation of cell proliferation (GO:0008284)|secretion (GO:0046903)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			TCTCTACAATCCATTCCAGAC	0.453																																						ENST00000520527.1																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8						c.(4-6)Gat>Aat		tumor protein D52							72.0	66.0	68.0					8																	80992685		2203	4300	6503	SO:0001583	missense	7163				anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr8:80992685C>T	U18914	CCDS34912.1, CCDS47879.1, CCDS55249.1, CCDS75757.1, CCDS75758.1, CCDS75759.1	8q21.13	2014-06-24			ENSG00000076554	ENSG00000076554			12005	protein-coding gene	gene with protein product		604068				7796418	Standard	NM_001287144		Approved	D52, hD52, N8L	uc003ybr.1	P55327	OTTHUMG00000164565	ENST00000379097.3:c.4G>A	8.37:g.80992685C>T	ENSP00000368391:p.Asp2Asn					TPD52_ENST00000519303.2_Intron|TPD52_ENST00000518937.1_Intron|TPD52_ENST00000517427.1_Missense_Mutation_p.D2N|TPD52_ENST00000537855.1_Missense_Mutation_p.D2N|TPD52_ENST00000379097.3_Missense_Mutation_p.D2N|TPD52_ENST00000448733.2_Missense_Mutation_p.D2N|TPD52_ENST00000379096.5_Intron	p.D2N			P55327	TPD52_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)		1	366	-	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	2					B7Z414|C9J502|D0UFD1|D0UFD2|D0UFD3|D0UFD4|D0UFD5|E5RKB4|Q13056|Q53EK8|Q6FGP3|Q6FGS3|Q86YZ2|Q9UCX8	Missense_Mutation	SNP	ENST00000379097.3	37	c.4G>A	CCDS34912.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195431	0.58126	.	.	ENSG00000076554	ENST00000537855;ENST00000520527;ENST00000517427;ENST00000448733;ENST00000543691;ENST00000379097	T;T;T;T;T	0.27104	2.01;1.69;1.73;1.72;1.71	4.85	4.85	0.62838	.	2.811090	0.01438	N	0.014990	T	0.27559	0.0677	L	0.27053	0.805	0.26805	N	0.969128	B	0.10296	0.003	B	0.10450	0.005	T	0.30179	-0.9987	10	0.52906	T	0.07	-2.2178	15.504	0.75722	0.0:1.0:0.0:0.0	.	2	P55327	TPD52_HUMAN	N	2	ENSP00000438113:D2N;ENSP00000429309:D2N;ENSP00000429351:D2N;ENSP00000410222:D2N;ENSP00000368391:D2N	ENSP00000368391:D2N	D	-	1	0	TPD52	81155240	0.998000	0.40836	0.357000	0.25798	0.944000	0.59088	2.155000	0.42301	2.510000	0.84645	0.579000	0.79373	GAT		0.453	TPD52-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379539.2	NM_005079		14	62	0	0	0	1	0	14	62				
POTEH	23784	broad.mit.edu	37	22	16279195	16279195	+	Splice_Site	SNP	C	C	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr22:16279195C>A	ENST00000343518.6	-	4	1079	c.1028G>T	c.(1027-1029)aGa>aTa	p.R343I	RNU6-816P_ENST00000390914.1_RNA|POTEH-AS1_ENST00000422014.1_RNA	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	343										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						AGAACTATACCTTCCATATCT	0.303																																						ENST00000343518.6																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.e4+1		POTE ankyrin domain family, member H																																				SO:0001630	splice_region_variant	23784							g.chr22:16279195C>A	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.1028+1G>T	22.37:g.16279195C>A							p.R343_splice	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN			4	1079	-			343					A2CEK4|A6NCI1|A9Z1W0	Splice_Site	SNP	ENST00000343518.6	37	c.1028_splice	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	13.81	2.347226	0.41599	.	.	ENSG00000198062	ENST00000359587;ENST00000343518	T	0.65732	-0.17	1.38	1.38	0.22167	Ankyrin repeat-containing domain (4);	0.000000	0.35838	U	0.002950	T	0.69949	0.3168	M	0.64260	1.97	0.44719	D	0.997713	D;D	0.76494	0.999;0.999	D;D	0.87578	0.991;0.998	T	0.67534	-0.5646	9	.	.	.	.	6.2318	0.20738	0.0:1.0:0.0:0.0	.	343;306	Q6S545;A6NKF6	POTEH_HUMAN;.	I	306;343	ENSP00000340610:R343I	.	R	-	2	0	POTEH	14659195	1.000000	0.71417	0.089000	0.20774	0.051000	0.14879	3.320000	0.51991	1.077000	0.40990	0.175000	0.17021	AGA		0.303	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213	Missense_Mutation	22	112	1	0	1.10923e-09	1	1.17887e-09	22	112				
ANK3	288	broad.mit.edu	37	10	61829895	61829895	+	Missense_Mutation	SNP	T	T	C			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr10:61829895T>C	ENST00000280772.2	-	37	10935	c.10744A>G	c.(10744-10746)Aca>Gca	p.T3582A	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3582					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GCTGGCGTTGTATCAGGGGTT	0.493																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(10744-10746)Aca>Gca		ankyrin 3, node of Ranvier (ankyrin G)							133.0	124.0	127.0					10																	61829895		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61829895T>C	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.10744A>G	10.37:g.61829895T>C	ENSP00000280772:p.Thr3582Ala					ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	p.T3582A	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	10935	-			3582					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.10744A>G	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	T	18.42	3.619925	0.66787	.	.	ENSG00000151150	ENST00000280772	T	0.15952	2.38	5.77	5.77	0.91146	.	0.000000	0.43416	D	0.000572	T	0.37265	0.0997	L	0.50333	1.59	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.08106	-1.0738	10	0.87932	D	0	.	16.0879	0.81070	0.0:0.0:0.0:1.0	.	3582	Q12955	ANK3_HUMAN	A	3582	ENSP00000280772:T3582A	ENSP00000280772:T3582A	T	-	1	0	ANK3	61499901	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.289000	0.72696	2.199000	0.70637	0.533000	0.62120	ACA		0.493	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		55	52	0	0	0	1	0	55	52				
AXIN1	8312	broad.mit.edu	37	16	354309	354309	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr16:354309G>A	ENST00000262320.3	-	5	1620	c.1249C>T	c.(1249-1251)Cgc>Tgc	p.R417C	AXIN1_ENST00000354866.3_Missense_Mutation_p.R417C|AXIN1_ENST00000481769.1_5'UTR	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	417	Interaction with GSK3B. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)	p.?(1)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CTCACCATGCGCACGCGCTTC	0.677																																						ENST00000262320.3																			1	Unknown(1)	p.?(1)	liver(1)	biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221						c.(1249-1251)Cgc>Tgc		axin 1							38.0	39.0	39.0					16																	354309		2196	4293	6489	SO:0001583	missense	8312				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr16:354309G>A	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.1249C>T	16.37:g.354309G>A	ENSP00000262320:p.Arg417Cys					AXIN1_ENST00000481769.1_5'UTR|AXIN1_ENST00000354866.3_Missense_Mutation_p.R417C	p.R417C	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN			5	1620	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	417			Interaction with GSK3B (By similarity).		Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Missense_Mutation	SNP	ENST00000262320.3	37	c.1249C>T	CCDS10405.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.668879	0.67814	.	.	ENSG00000103126	ENST00000262320;ENST00000354866	D;D	0.93811	-3.29;-3.29	5.0	4.02	0.46733	.	0.000000	0.85682	D	0.000000	D	0.94644	0.8273	L	0.49126	1.545	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.61874	0.895;0.847	D	0.94752	0.7928	10	0.72032	D	0.01	-1.4291	14.4788	0.67564	0.0:0.0:0.8516:0.1484	.	417;417	O15169-2;O15169	.;AXIN1_HUMAN	C	417	ENSP00000262320:R417C;ENSP00000346935:R417C	ENSP00000262320:R417C	R	-	1	0	AXIN1	294310	1.000000	0.71417	0.470000	0.27216	0.922000	0.55478	5.361000	0.66092	1.073000	0.40885	0.563000	0.77884	CGC		0.677	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3			31	33	0	0	0	1	0	31	33				
SIRT1	23411	broad.mit.edu	37	10	69672542	69672542	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr10:69672542G>A	ENST00000212015.6	+	8	1722	c.1669G>A	c.(1669-1671)Gac>Aac	p.D557N	SIRT1_ENST00000432464.1_Missense_Mutation_p.D262N|SIRT1_ENST00000403579.1_Missense_Mutation_p.D254N|SIRT1_ENST00000406900.1_Missense_Mutation_p.D254N	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	557					angiogenesis (GO:0001525)|cell aging (GO:0007569)|cellular glucose homeostasis (GO:0001678)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to starvation (GO:0009267)|cellular response to tumor necrosis factor (GO:0071356)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|chromatin organization (GO:0006325)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|establishment of chromatin silencing (GO:0006343)|fatty acid homeostasis (GO:0055089)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of chromatin silencing (GO:0006344)|methylation-dependent chromatin silencing (GO:0006346)|muscle organ development (GO:0007517)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of cell growth (GO:0030308)|negative regulation of cellular response to testosterone stimulus (GO:2000655)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of helicase activity (GO:0051097)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of neuron death (GO:1901215)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostaglandin biosynthetic process (GO:0031393)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of TOR signaling (GO:0032007)|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)|ovulation from ovarian follicle (GO:0001542)|peptidyl-lysine acetylation (GO:0018394)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular senescence (GO:2000774)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of chromatin silencing (GO:0031937)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of macroautophagy (GO:0016239)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deacetylation (GO:0006476)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cell proliferation (GO:0042127)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle (GO:0007346)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of smooth muscle cell apoptotic process (GO:0034391)|response to hydrogen peroxide (GO:0042542)|response to insulin (GO:0032868)|response to oxidative stress (GO:0006979)|rRNA processing (GO:0006364)|single strand break repair (GO:0000012)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|triglyceride mobilization (GO:0006642)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|rDNA heterochromatin (GO:0033553)	bHLH transcription factor binding (GO:0043425)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase activity (GO:0004407)|HLH domain binding (GO:0043398)|identical protein binding (GO:0042802)|keratin filament binding (GO:1990254)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent protein deacetylase activity (GO:0034979)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						CACACTTTTAGACCAAGCAGC	0.393																																						ENST00000212015.6																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						c.(1669-1671)Gac>Aac		sirtuin 1							95.0	94.0	94.0					10																	69672542		2203	4300	6503	SO:0001583	missense	23411				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding	g.chr10:69672542G>A	AF083106	CCDS7273.1, CCDS44412.1	10q21	2010-06-25	2010-06-25		ENSG00000096717	ENSG00000096717			14929	protein-coding gene	gene with protein product		604479	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1"", ""sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)"""			10381378	Standard	NM_012238		Approved	SIR2L1	uc001jnd.3	Q96EB6	OTTHUMG00000018340	ENST00000212015.6:c.1669G>A	10.37:g.69672542G>A	ENSP00000212015:p.Asp557Asn					SIRT1_ENST00000432464.1_Missense_Mutation_p.D262N|SIRT1_ENST00000403579.1_Missense_Mutation_p.D254N|SIRT1_ENST00000406900.1_Missense_Mutation_p.D254N	p.D557N	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN			8	1722	+			557					Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Missense_Mutation	SNP	ENST00000212015.6	37	c.1669G>A	CCDS7273.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.298683	0.23650	.	.	ENSG00000096717	ENST00000212015;ENST00000432464;ENST00000406900;ENST00000403579	T;T;T;T	0.24538	2.42;1.85;1.85;1.85	5.08	4.18	0.49190	.	0.209202	0.38778	N	0.001564	T	0.12433	0.0302	N	0.14661	0.345	0.45097	D	0.998113	B;B	0.31026	0.304;0.083	B;B	0.26310	0.068;0.02	T	0.10428	-1.0630	10	0.11182	T	0.66	-8.8573	10.3492	0.43924	0.1552:0.0:0.8448:0.0	.	254;557	B0QZ35;Q96EB6	.;SIRT1_HUMAN	N	557;262;254;254	ENSP00000212015:D557N;ENSP00000409208:D262N;ENSP00000384508:D254N;ENSP00000384063:D254N	ENSP00000212015:D557N	D	+	1	0	SIRT1	69342548	0.999000	0.42202	1.000000	0.80357	0.732000	0.41865	2.694000	0.47035	1.470000	0.48102	0.650000	0.86243	GAC		0.393	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048296.1			74	45	0	0	0	1	0	74	45				
GPR56	9289	broad.mit.edu	37	16	57690482	57690482	+	Nonsense_Mutation	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr16:57690482C>T	ENST00000388812.4	+	9	1560	c.1120C>T	c.(1120-1122)Caa>Taa	p.Q374*	GPR56_ENST00000568908.1_Nonsense_Mutation_p.Q374*|GPR56_ENST00000379694.4_Nonsense_Mutation_p.Q204*|GPR56_ENST00000567835.1_Nonsense_Mutation_p.Q374*|GPR56_ENST00000562558.1_Nonsense_Mutation_p.Q374*|GPR56_ENST00000568909.1_Nonsense_Mutation_p.Q374*|GPR56_ENST00000540164.2_Nonsense_Mutation_p.Q374*|GPR56_ENST00000456916.1_Nonsense_Mutation_p.Q374*|GPR56_ENST00000538815.1_Nonsense_Mutation_p.Q374*|GPR56_ENST00000544297.1_Nonsense_Mutation_p.Q199*|GPR56_ENST00000388813.5_Nonsense_Mutation_p.Q374*|GPR56_ENST00000379696.3_Nonsense_Mutation_p.Q374*|GPR56_ENST00000562631.1_Nonsense_Mutation_p.Q374*			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	374	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						GAGAGAAACCCAAACATCCTG	0.607																																						ENST00000562631.1																			0				kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						c.(1120-1122)Caa>Taa		G protein-coupled receptor 56							183.0	150.0	161.0					16																	57690482		2198	4300	6498	SO:0001587	stop_gained	9289				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity	g.chr16:57690482C>T	AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"""-"", ""GPCR / Class B : Orphans"""	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.1120C>T	16.37:g.57690482C>T	ENSP00000373464:p.Gln374*					GPR56_ENST00000538815.1_Nonsense_Mutation_p.Q374*|GPR56_ENST00000456916.1_Nonsense_Mutation_p.Q374*|GPR56_ENST00000388813.5_Nonsense_Mutation_p.Q374*|GPR56_ENST00000544297.1_Nonsense_Mutation_p.Q199*|GPR56_ENST00000568908.1_Nonsense_Mutation_p.Q374*|GPR56_ENST00000568909.1_Nonsense_Mutation_p.Q374*|GPR56_ENST00000379696.3_Nonsense_Mutation_p.Q374*|GPR56_ENST00000567835.1_Nonsense_Mutation_p.Q374*|GPR56_ENST00000388812.4_Nonsense_Mutation_p.Q374*|GPR56_ENST00000540164.2_Nonsense_Mutation_p.Q374*|GPR56_ENST00000379694.4_Nonsense_Mutation_p.Q204*|GPR56_ENST00000562558.1_Nonsense_Mutation_p.Q374*	p.Q374*			Q9Y653	GPR56_HUMAN			9	1652	+			374			GPS.		A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Nonsense_Mutation	SNP	ENST00000388812.4	37	c.1120C>T	CCDS32460.1	.	.	.	.	.	.	.	.	.	.	C	38	6.954947	0.97960	.	.	ENSG00000205336	ENST00000388813;ENST00000388812;ENST00000538815;ENST00000456916;ENST00000540164;ENST00000544297;ENST00000379694;ENST00000379696	.	.	.	5.57	2.14	0.27477	.	0.532374	0.18640	N	0.135319	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	12.0963	0.53757	0.129:0.6474:0.2236:0.0	.	.	.	.	X	374;374;374;374;374;199;204;374	.	ENSP00000369016:Q204X	Q	+	1	0	GPR56	56247983	0.343000	0.24818	0.333000	0.25482	0.240000	0.25518	0.919000	0.28692	0.690000	0.31570	0.563000	0.77884	CAA		0.607	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433436.3			40	76	0	0	0	1	0	40	76				
EP400	57634	broad.mit.edu	37	12	132511992	132511992	+	Silent	SNP	G	G	C			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr12:132511992G>C	ENST00000333577.4	+	27	5242	c.5133G>C	c.(5131-5133)ccG>ccC	p.P1711P	EP400_ENST00000389561.2_Silent_p.P1675P|EP400_ENST00000389562.2_Silent_p.P1674P|EP400_ENST00000330386.6_Silent_p.P1594P|EP400_ENST00000332482.4_Silent_p.P1638P			Q96L91	EP400_HUMAN	E1A binding protein p400	1711					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TTGGCGTTCCGGGCCGCGTGG	0.562																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(5131-5133)ccG>ccC		E1A binding protein p400							67.0	64.0	65.0					12																	132511992		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132511992G>C	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.5133G>C	12.37:g.132511992G>C						EP400_ENST00000389561.2_Silent_p.P1675P|EP400_ENST00000332482.4_Silent_p.P1638P|EP400_ENST00000330386.6_Silent_p.P1594P|EP400_ENST00000389562.2_Silent_p.P1674P	p.P1711P			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	27	5242	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	1711					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.5133G>C																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		19	34	0	0	0	1	0	19	34				
PKN1	5585	broad.mit.edu	37	19	14581060	14581060	+	Silent	SNP	G	G	A	rs368511038		TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr19:14581060G>A	ENST00000242783.6	+	19	2544	c.2379G>A	c.(2377-2379)acG>acA	p.T793T	PKN1_ENST00000342216.4_Silent_p.T799T	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	793	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CGTCGTACACGCGAGCTGTGG	0.637																																					NSCLC(185;2539 2965 10733 52867)	ENST00000242783.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						c.(2377-2379)acG>acA		protein kinase N1		G	,	1,4405	2.1+/-5.4	0,1,2202	98.0	112.0	107.0		2379,2397	-8.1	0.0	19		107	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PKN1	NM_002741.3,NM_213560.1	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	793/943,799/949	14581060	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5585				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	g.chr19:14581060G>A	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"""protein kinase C-like 1"""	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.2379G>A	19.37:g.14581060G>A						PKN1_ENST00000342216.4_Silent_p.T799T	p.T793T	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN			19	2544	+			793			Protein kinase.		A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Silent	SNP	ENST00000242783.6	37	c.2379G>A	CCDS42513.1																																																																																				0.637	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		14	29	0	0	0	1	0	14	29				
WBP1L	54838	broad.mit.edu	37	10	104572904	104572904	+	Missense_Mutation	SNP	A	A	G			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr10:104572904A>G	ENST00000369889.4	+	4	987	c.845A>G	c.(844-846)gAc>gGc	p.D282G	WBP1L_ENST00000448841.1_Missense_Mutation_p.D303G	NM_017787.4	NP_060257.4	Q9NX94	WBP1L_HUMAN	WW domain binding protein 1-like	282						integral component of membrane (GO:0016021)											GGGCCCCTGGACTTCTGCGAC	0.607																																						ENST00000369889.4																			0											c.(844-846)gAc>gGc		WW domain binding protein 1-like							64.0	69.0	68.0					10																	104572904		2203	4300	6503	SO:0001583	missense	54838					integral to membrane		g.chr10:104572904A>G	AK056285	CCDS7540.1, CCDS44473.1	10q24.33	2012-05-02	2012-05-02	2012-05-02	ENSG00000166272	ENSG00000166272			23510	protein-coding gene	gene with protein product	"""outcome predictor in acute leukemia 1"""	611129	"""chromosome 10 open reading frame 26"""	C10orf26			Standard	NM_017787		Approved	FLJ20154, OPAL1	uc001kwf.4	Q9NX94	OTTHUMG00000018968	ENST00000369889.4:c.845A>G	10.37:g.104572904A>G	ENSP00000358905:p.Asp282Gly					WBP1L_ENST00000448841.1_Missense_Mutation_p.D303G	p.D282G	NM_017787.4	NP_060257.4	Q9NX94	OPA1L_HUMAN			4	987	+			282					B3KPF4|B7Z6S7|D3DR90|Q1EG70|Q2HIY7|Q5F2G6	Missense_Mutation	SNP	ENST00000369889.4	37	c.845A>G	CCDS7540.1	.	.	.	.	.	.	.	.	.	.	a	23.4	4.407182	0.83230	.	.	ENSG00000166272	ENST00000448841;ENST00000369889	T;T	0.44083	0.93;1.0	5.93	4.77	0.60923	.	0.367155	0.36034	N	0.002827	T	0.56262	0.1973	M	0.62723	1.935	0.58432	D	0.999999	D;D	0.54047	0.959;0.964	P;P	0.59056	0.773;0.851	T	0.58819	-0.7569	10	0.87932	D	0	-17.5174	11.8766	0.52550	0.8543:0.1457:0.0:0.0	.	303;282	Q9NX94-2;Q9NX94	.;OPA1L_HUMAN	G	303;282	ENSP00000414721:D303G;ENSP00000358905:D282G	ENSP00000358905:D282G	D	+	2	0	C10orf26	104562894	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.387000	0.73191	1.025000	0.39708	0.454000	0.30748	GAC		0.607	WBP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050100.1	NM_017787		62	63	0	0	0	1	0	62	63				
BCRP7	100133163	broad.mit.edu	37	22	18845998	18845998	+	3'UTR	SNP	G	G	A	rs201503410		TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr22:18845998G>A	ENST00000412938.1	+	0	3356																											CCCGTCCTGCGCAGGCCGACA	0.607																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	100133163							g.chr22:18845998G>A																												ENST00000412938.1:c.*3353G>A	22.37:g.18845998G>A														0	3356	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.607	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			4	79	0	0	0	1	0	4	79				
SLK	9748	broad.mit.edu	37	10	105763081	105763081	+	Silent	SNP	C	C	T	rs368294178		TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr10:105763081C>T	ENST00000369755.3	+	9	2690	c.2145C>T	c.(2143-2145)atC>atT	p.I715I	SLK_ENST00000335753.4_Silent_p.I715I	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	715					apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GTATTAATATCAACTCTGACA	0.348																																					NSCLC(111;540 1651 1927 4474 17706)	ENST00000369755.3																			0				kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8						c.(2143-2145)atC>atT		STE20-like kinase		C		1,4405	2.1+/-5.4	0,1,2202	55.0	57.0	56.0		2145	3.2	1.0	10		56	0,8600		0,0,4300	no	coding-synonymous	SLK	NM_014720.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		715/1236	105763081	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105763081C>T		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.2145C>T	10.37:g.105763081C>T						SLK_ENST00000335753.4_Silent_p.I715I	p.I715I	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	9	2690	+		Colorectal(252;0.178)	715					D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Silent	SNP	ENST00000369755.3	37	c.2145C>T	CCDS7553.1																																																																																				0.348	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		47	47	0	0	0	1	0	47	47				
BCRP7	100133163	broad.mit.edu	37	22	18845990	18845990	+	3'UTR	SNP	C	C	T	rs200186747		TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr22:18845990C>T	ENST00000412938.1	+	0	3348																											ACCTCCATCCCGTCCTGCGCA	0.582																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	100133163							g.chr22:18845990C>T																												ENST00000412938.1:c.*3345C>T	22.37:g.18845990C>T														0	3348	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.582	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			5	75	0	0	0	1	0	5	75				
ARID3B	10620	broad.mit.edu	37	15	74887992	74887992	+	Silent	SNP	G	G	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr15:74887992G>A	ENST00000346246.5	+	9	1791	c.1560G>A	c.(1558-1560)acG>acA	p.T520T		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	521						nucleus (GO:0005634)	DNA binding (GO:0003677)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						ACCTCATCACGGGGTCTGCTC	0.642																																						ENST00000346246.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						c.(1558-1560)acG>acA		AT rich interactive domain 3B (BRIGHT-like)							47.0	36.0	39.0					15																	74887992		2197	4293	6490	SO:0001819	synonymous_variant	10620				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr15:74887992G>A		CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"""-"""	14350	protein-coding gene	gene with protein product		612457	"""AT rich interactive domain 3B (BRIGHT- like)"""				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.1560G>A	15.37:g.74887992G>A							p.T520T	NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN			9	1791	+			521					O95443|Q59HC9|Q6P9C9	Silent	SNP	ENST00000346246.5	37	c.1560G>A	CCDS10264.1																																																																																				0.642	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280688.2	NM_006465		5	33	0	0	0	1	0	5	33				
FNDC1	84624	broad.mit.edu	37	6	159653694	159653694	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr6:159653694C>T	ENST00000297267.9	+	11	2350	c.2150C>T	c.(2149-2151)tCa>tTa	p.S717L	FNDC1_ENST00000340366.6_Missense_Mutation_p.S654L	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	717	Ser-rich.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCCCCACCCTCAAGACTTTCT	0.657																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(2149-2151)tCa>tTa		fibronectin type III domain containing 1							22.0	26.0	24.0					6																	159653694		1976	4136	6112	SO:0001583	missense	84624					extracellular region		g.chr6:159653694C>T	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.2150C>T	6.37:g.159653694C>T	ENSP00000297267:p.Ser717Leu					FNDC1_ENST00000340366.6_Missense_Mutation_p.S654L	p.S717L	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	2350	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	717			Ser-rich.		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.2150C>T	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.396108	0.42512	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.08458	3.09;3.89	4.87	3.07	0.35406	.	1.899140	0.02526	N	0.093045	T	0.02533	0.0077	L	0.29908	0.895	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.09377	0.004;0.002	T	0.39014	-0.9634	10	0.45353	T	0.12	2.7528	7.9632	0.30083	0.0:0.7507:0.1604:0.0889	.	654;717	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	L	717;654	ENSP00000297267:S717L;ENSP00000342460:S654L	ENSP00000297267:S717L	S	+	2	0	FNDC1	159573684	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	0.167000	0.16602	0.449000	0.26747	0.655000	0.94253	TCA		0.657	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		3	17	0	0	0	1	0	3	17				
EIF3A	8661	broad.mit.edu	37	10	120817671	120817671	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr10:120817671C>T	ENST00000369144.3	-	12	1901	c.1774G>A	c.(1774-1776)Gaa>Aaa	p.E592K	SNORA19_ENST00000410656.1_RNA|EIF3A_ENST00000541549.1_Missense_Mutation_p.E558K|SNORA19_ENST00000384737.1_RNA	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TCCAATTCTTCTTTCTCACGC	0.502																																						ENST00000369144.3																			0				endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56						c.(1774-1776)Gaa>Aaa		eukaryotic translation initiation factor 3, subunit A							79.0	71.0	74.0					10																	120817671		2203	4300	6503	SO:0001583	missense	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120817671C>T	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.1774G>A	10.37:g.120817671C>T	ENSP00000358140:p.Glu592Lys					EIF3A_ENST00000541549.1_Missense_Mutation_p.E558K|EIF3A_ENST00000478852.1_Intron	p.E592K	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	12	1901	-		Lung NSC(174;0.094)|all_lung(145;0.123)	592			Glu-rich.		B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	c.1774G>A	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.201394	0.79015	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.47869	0.83;0.83	5.5	5.5	0.81552	.	0.000000	0.40469	N	0.001087	T	0.50240	0.1604	M	0.67569	2.06	0.80722	D	1	B	0.32071	0.355	B	0.29267	0.1	T	0.51466	-0.8702	10	0.49607	T	0.09	-26.7216	19.775	0.96388	0.0:1.0:0.0:0.0	.	592	Q14152	EIF3A_HUMAN	K	592;558	ENSP00000358140:E592K;ENSP00000438178:E558K	ENSP00000358140:E592K	E	-	1	0	EIF3A	120807661	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.017000	0.70805	2.741000	0.93983	0.585000	0.79938	GAA		0.502	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		20	25	0	0	0	1	0	20	25				
RNF111	54778	broad.mit.edu	37	15	59350698	59350698	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr15:59350698G>A	ENST00000557998.1	+	5	1602	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K	RNF111_ENST00000559209.1_Missense_Mutation_p.E439K|RNF111_ENST00000348370.4_Missense_Mutation_p.E439K|RNF111_ENST00000561186.1_Missense_Mutation_p.E439K|RNF111_ENST00000434298.1_Missense_Mutation_p.E439K	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	439	Ser-rich.				gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|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 SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		CACAGTGTCAGAGACTTCAGC	0.448																																					NSCLC(72;983 1365 10746 34387 47081)	ENST00000348370.4																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1315-1317)Gag>Aag		ring finger protein 111							239.0	239.0	239.0					15																	59350698		2192	4291	6483	SO:0001583	missense	54778				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:59350698G>A	AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.1315G>A	15.37:g.59350698G>A	ENSP00000452732:p.Glu439Lys					RNF111_ENST00000434298.1_Missense_Mutation_p.E439K|RNF111_ENST00000557998.1_Missense_Mutation_p.E439K|RNF111_ENST00000561186.1_Missense_Mutation_p.E439K|RNF111_ENST00000559209.1_Missense_Mutation_p.E439K	p.E439K	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN		all cancers(107;0.194)	5	1748	+			439			Ser-rich.		C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	ENST00000557998.1	37	c.1315G>A	CCDS58366.1	.	.	.	.	.	.	.	.	.	.	G	37	6.010282	0.97200	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.17054	2.3;2.3	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.29850	0.0746	L	0.29908	0.895	0.54753	D	0.999984	D;D;D	0.67145	0.996;0.991;0.995	P;P;P	0.59761	0.863;0.664;0.819	T	0.00551	-1.1675	10	0.72032	D	0.01	-15.119	19.6407	0.95757	0.0:0.0:1.0:0.0	.	439;439;439	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	K	439	ENSP00000288199:E439K;ENSP00000393641:E439K	ENSP00000288199:E439K	E	+	1	0	RNF111	57137990	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.419000	0.80179	2.890000	0.99128	0.585000	0.79938	GAG		0.448	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610		144	218	0	0	0	1	0	144	218				
ATP1A3	478	broad.mit.edu	37	19	42471431	42471431	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr19:42471431G>A	ENST00000302102.5	-	22	3133	c.2983C>T	c.(2983-2985)Cgc>Tgc	p.R995C	ATP1A3_ENST00000543770.1_Missense_Mutation_p.R1006C|ATP1A3_ENST00000602133.1_Missense_Mutation_p.R965C|ATP1A3_ENST00000545399.1_Missense_Mutation_p.R1008C	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	995					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.R995C(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						ATGAGTTTGCGGATTTCGTCG	0.662																																						ENST00000545399.1																			1	Substitution - Missense(1)	p.R995C(1)	upper_aerodigestive_tract(1)	NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						c.(3022-3024)Cgc>Tgc		ATPase, Na+/K+ transporting, alpha 3 polypeptide							40.0	41.0	41.0					19																	42471431		2203	4300	6503	SO:0001583	missense	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42471431G>A		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.2983C>T	19.37:g.42471431G>A	ENSP00000302397:p.Arg995Cys					ATP1A3_ENST00000302102.5_Missense_Mutation_p.R995C|ATP1A3_ENST00000602133.1_Missense_Mutation_p.R965C|ATP1A3_ENST00000543770.1_Missense_Mutation_p.R1006C	p.R1008C	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN			22	3175	-			995					B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	c.3022C>T	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993934	0.74703	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000543770	D;D;D;D	0.96365	-3.99;-3.99;-3.99;-3.99	3.32	2.16	0.27623	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98732	0.9574	H	0.99286	4.5	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;1.0;1.0	D	0.97478	1.0045	10	0.87932	D	0	.	9.5421	0.39257	0.0:0.0:0.7902:0.2098	.	1008;1006;995;995	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	C	995;995;1008;965;1006	ENSP00000302397:R995C;ENSP00000411503:R995C;ENSP00000444688:R1008C;ENSP00000437577:R1006C	ENSP00000302397:R995C	R	-	1	0	ATP1A3	47163271	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.305000	0.59110	1.887000	0.54652	0.462000	0.41574	CGC		0.662	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		8	35	0	0	0	1	0	8	35				
RNF17	56163	broad.mit.edu	37	13	25404708	25404708	+	Missense_Mutation	SNP	A	A	C			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr13:25404708A>C	ENST00000255324.5	+	17	2384	c.2332A>C	c.(2332-2334)Aag>Cag	p.K778Q	RNF17_ENST00000381921.1_Missense_Mutation_p.K778Q	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	778	Tudor 1. {ECO:0000255|PROSITE- ProRule:PRU00211}.				multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GCGTAAAATAAAGGATGAGTT	0.328																																						ENST00000255324.5																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(2332-2334)Aag>Cag		ring finger protein 17							98.0	104.0	102.0					13																	25404708		2203	4298	6501	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25404708A>C	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.2332A>C	13.37:g.25404708A>C	ENSP00000255324:p.Lys778Gln					RNF17_ENST00000381921.1_Missense_Mutation_p.K778Q	p.K778Q	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	17	2384	+		Lung SC(185;0.0225)|Breast(139;0.077)	778			Tudor 1.		Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.2332A>C	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	A	15.30	2.791336	0.50102	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120	T;T;T	0.09445	2.98;2.98;2.98	5.53	5.53	0.82687	Tudor subgroup (1);Staphylococcal nuclease (SNase-like) (1);Maternal tudor protein (1);Tudor domain (1);	0.117684	0.56097	D	0.000033	T	0.27524	0.0676	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79784	0.977;0.993	T	0.00878	-1.1530	10	0.30854	T	0.27	-11.7201	13.4707	0.61281	1.0:0.0:0.0:0.0	.	778;778	B7Z7S1;Q9BXT8	.;RNF17_HUMAN	Q	778;778;637;102	ENSP00000255324:K778Q;ENSP00000371346:K778Q;ENSP00000388892:K102Q	ENSP00000255324:K778Q	K	+	1	0	RNF17	24302708	1.000000	0.71417	1.000000	0.80357	0.265000	0.26407	3.873000	0.56093	2.217000	0.71921	0.477000	0.44152	AAG		0.328	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		24	42	0	0	0	1	0	24	42				
CRYGD	1421	broad.mit.edu	37	2	208986513	208986513	+	Missense_Mutation	SNP	A	A	G			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr2:208986513A>G	ENST00000264376.4	-	3	436	c.409T>C	c.(409-411)Tcc>Ccc	p.S137P		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D	137	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				cellular response to reactive oxygen species (GO:0034614)|lens development in camera-type eye (GO:0002088)|lens fiber cell differentiation (GO:0070306)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		CGGTAGTTGGACAGCTCGTAG	0.592																																						ENST00000264376.4																			0				breast(1)|endometrium(1)|lung(3)	5						c.(409-411)Tcc>Ccc		crystallin, gamma D							97.0	91.0	93.0					2																	208986513		2203	4300	6503	SO:0001583	missense	1421				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens	g.chr2:208986513A>G		CCDS2378.1	2q33.3	2013-02-14			ENSG00000118231	ENSG00000118231			2411	protein-coding gene	gene with protein product		123690		CRYG4			Standard	NM_006891		Approved		uc002vcn.4	P07320	OTTHUMG00000132944	ENST00000264376.4:c.409T>C	2.37:g.208986513A>G	ENSP00000264376:p.Ser137Pro						p.S137P	NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)	3	436	-			137			Beta/gamma crystallin 'Greek key' 4.		Q17RF7|Q53R51|Q99681	Missense_Mutation	SNP	ENST00000264376.4	37	c.409T>C	CCDS2378.1	.	.	.	.	.	.	.	.	.	.	A	4.960	0.178291	0.09443	.	.	ENSG00000118231	ENST00000264376	T	0.72835	-0.69	4.25	2.37	0.29283	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.180359	0.49305	N	0.000142	T	0.21145	0.0509	N	0.00057	-2.36	0.26068	N	0.981269	B	0.02656	0.0	B	0.01281	0.0	T	0.45659	-0.9246	10	0.02654	T	1	.	6.3093	0.21156	0.1009:0.0:0.7095:0.1896	.	137	P07320	CRGD_HUMAN	P	137	ENSP00000264376:S137P	ENSP00000264376:S137P	S	-	1	0	CRYGD	208694758	1.000000	0.71417	0.969000	0.41365	0.983000	0.72400	5.119000	0.64679	0.401000	0.25424	-0.239000	0.12128	TCC		0.592	CRYGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256476.2	NM_006891		35	63	0	0	0	1	0	35	63				
SNHG14	104472715	broad.mit.edu	37	15	25430620	25430620	+	RNA	SNP	G	G	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr15:25430620G>A	ENST00000424208.1	+	0	481				SNORD115-10_ENST00000365073.1_RNA|SNORD115-8_ENST00000363856.1_RNA|SNORD115-9_ENST00000362912.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		ATTGCGTTAGGCCCTTTGGCC	0.587																																						ENST00000424208.1																			0																																																			104472715							g.chr15:25430620G>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25430620G>A								NR_003305.1						0	481	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.587	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			10	11	0	0	0	1	0	10	11				
ABCC1	4363	broad.mit.edu	37	16	16208862	16208862	+	Missense_Mutation	SNP	G	G	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr16:16208862G>T	ENST00000399410.3	+	23	3494	c.3319G>T	c.(3319-3321)Gtt>Ttt	p.V1107F	ABCC1_ENST00000345148.5_Missense_Mutation_p.V1107F|ABCC1_ENST00000399408.2_Missense_Mutation_p.V1117F|ABCC1_ENST00000346370.5_Missense_Mutation_p.V1051F|ABCC1_ENST00000351154.5_Missense_Mutation_p.V1048F|ABCC1_ENST00000349029.5_Missense_Mutation_p.V992F	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1107	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	TGCCTGCATCGTTATCCTGCT	0.572																																						ENST00000399408.2																			0				breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56						c.(3349-3351)Gtt>Ttt		ATP-binding cassette, sub-family C (CFTR/MRP), member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						62.0	68.0	66.0					16																	16208862		2154	4272	6426	SO:0001583	missense	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16208862G>T	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.3319G>T	16.37:g.16208862G>T	ENSP00000382342:p.Val1107Phe					ABCC1_ENST00000399410.3_Missense_Mutation_p.V1107F|ABCC1_ENST00000346370.5_Missense_Mutation_p.V1051F|ABCC1_ENST00000345148.5_Missense_Mutation_p.V1107F|ABCC1_ENST00000351154.5_Missense_Mutation_p.V1048F|ABCC1_ENST00000349029.5_Missense_Mutation_p.V992F	p.V1117F			P33527	MRP1_HUMAN			24	3524	+			1107			ABC transmembrane type-1 2.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	c.3349G>T	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.242962	0.58995	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	D;D;D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77;-2.77;-2.77	5.18	-1.58	0.08479	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.248378	0.46758	D	0.000268	D	0.91036	0.7180	M	0.83774	2.66	0.33301	D	0.564876	P;P;P;P;P;P	0.41673	0.723;0.732;0.745;0.759;0.646;0.593	P;P;B;B;P;P	0.49561	0.589;0.615;0.321;0.196;0.519;0.512	D	0.88903	0.3354	10	0.87932	D	0	-12.8244	5.8762	0.18830	0.5815:0.1287:0.2898:0.0	.	992;1107;1051;1048;1107;1117	P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;MRP1_HUMAN;.	F	1107;1117;1051;1048;1107;992;791	ENSP00000382342:V1107F;ENSP00000382340:V1117F;ENSP00000263019:V1051F;ENSP00000263017:V1048F;ENSP00000263014:V1107F;ENSP00000263016:V992F	ENSP00000263014:V1107F	V	+	1	0	ABCC1	16116363	0.990000	0.36364	0.974000	0.42286	0.531000	0.34715	1.277000	0.33167	-0.577000	0.05967	-0.290000	0.09829	GTT		0.572	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		12	34	1	0	0.000151284	1	0.000154545	12	34				
SLC6A5	9152	broad.mit.edu	37	11	20636288	20636288	+	Missense_Mutation	SNP	C	C	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr11:20636288C>A	ENST00000525748.1	+	6	1322	c.1049C>A	c.(1048-1050)gCt>gAt	p.A350D		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	350					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TGCATGACCGCTTATCCCAAC	0.398																																						ENST00000525748.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63						c.(1048-1050)gCt>gAt		solute carrier family 6 (neurotransmitter transporter), member 5	Glycine(DB00145)						184.0	163.0	170.0					11																	20636288		2203	4300	6503	SO:0001583	missense	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20636288C>A	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.1049C>A	11.37:g.20636288C>A	ENSP00000434364:p.Ala350Asp						p.A350D	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN			6	1322	+			350					O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	c.1049C>A	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962615	0.74016	.	.	ENSG00000165970	ENST00000525748	T	0.72942	-0.7	5.71	5.71	0.89125	.	0.725689	0.13699	N	0.368976	T	0.64450	0.2599	L	0.35644	1.08	0.80722	D	1	P	0.38335	0.627	B	0.38755	0.281	T	0.59521	-0.7439	10	0.10902	T	0.67	.	19.4584	0.94904	0.0:1.0:0.0:0.0	.	350	Q9Y345	SC6A5_HUMAN	D	350	ENSP00000434364:A350D	ENSP00000434364:A350D	A	+	2	0	SLC6A5	20592864	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.907000	0.75724	2.697000	0.92050	0.591000	0.81541	GCT		0.398	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		73	32	1	0	8.73484e-25	1	9.71905e-25	73	32				
LOC101927079	101927079	broad.mit.edu	37	15	22332570	22332570	+	RNA	SNP	T	T	C	rs551210093		TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr15:22332570T>C	ENST00000558896.1	+	0	377																											CCCATGCTCATCTGCTCCAAT	0.398																																						ENST00000558896.1																			0																																																			101927079							g.chr15:22332570T>C																													15.37:g.22332570T>C														0	377	+									RNA	SNP	ENST00000558896.1	37																																																																																						0.398	RP11-69H14.6-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000417625.1			6	127	0	0	0	1	0	6	127				
DNM1P46	196968	broad.mit.edu	37	15	100339997	100339997	+	RNA	SNP	G	G	C	rs201407168		TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr15:100339997G>C	ENST00000341853.1	-	0	929					NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										GTGTCTTCTCGTTCCCACGCG	0.612																																						ENST00000341853.1																			0																				35.0	30.0	32.0					15																	100339997		874	1991	2865			196968							g.chr15:100339997G>C	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100339997G>C								NR_003260.1						0	929	-								Q3ZCN3	RNA	SNP	ENST00000341853.1	37																																																																																						0.612	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260		4	40	0	0	0	1	0	4	40				
MUC2	4583	broad.mit.edu	37	11	1094756	1094756	+	Silent	SNP	G	G	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr11:1094756G>A	ENST00000441003.2	+	31	5871	c.5844G>A	c.(5842-5844)acG>acA	p.T1948T	MUC2_ENST00000361558.6_Silent_p.T86T|MUC2_ENST00000333592.6_Silent_p.T236T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4310					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGACCCCAACGCCGACCCCAC	0.632																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(5842-5844)acG>acA		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						137.0	161.0	153.0					11																	1094756		2105	4216	6321	SO:0001819	synonymous_variant	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1094756G>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5844G>A	11.37:g.1094756G>A						MUC2_ENST00000361558.6_Silent_p.T86T|MUC2_ENST00000333592.6_Silent_p.T236T	p.T1948T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	5871	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	1979					Q14878	Silent	SNP	ENST00000441003.2	37	c.5844G>A																																																																																					0.632	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		74	28	0	0	0	1	0	74	28				
UTP14A	10813	broad.mit.edu	37	X	129063563	129063563	+	Silent	SNP	G	G	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chrX:129063563G>A	ENST00000394422.3	+	15	2323	c.2295G>A	c.(2293-2295)ctG>ctA	p.L765L	UTP14A_ENST00000425117.2_Silent_p.L713L|UTP14A_ENST00000371042.3_Silent_p.L597L|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371051.5_Silent_p.L711L	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	765					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						AAAAACAGCTGAAGAAATGCT	0.483																																						ENST00000394422.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						c.(2293-2295)ctG>ctA		UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)							92.0	82.0	85.0					X																	129063563		2203	4300	6503	SO:0001819	synonymous_variant	10813				rRNA processing	nucleolus|small-subunit processome	protein binding	g.chrX:129063563G>A	AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.2295G>A	X.37:g.129063563G>A						UTP14A_ENST00000371051.5_Silent_p.L711L|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Silent_p.L713L|UTP14A_ENST00000371042.3_Silent_p.L597L	p.L765L	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN			15	2323	+			765					A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Silent	SNP	ENST00000394422.3	37	c.2295G>A	CCDS14615.1																																																																																				0.483	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649		32	10	0	0	0	1	0	32	10				
DDX46	9879	broad.mit.edu	37	5	134153352	134153352	+	Missense_Mutation	SNP	A	A	G			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr5:134153352A>G	ENST00000354283.4	+	20	2912	c.2777A>G	c.(2776-2778)aAt>aGt	p.N926S	DDX46_ENST00000452510.2_Missense_Mutation_p.N927S			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	926					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGTGGACAGAATGAATCTTTT	0.373																																					Colon(13;391 453 4901 21675 24897)	ENST00000452510.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(2779-2781)aAt>aGt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 46							109.0	107.0	108.0					5																	134153352		2203	4300	6503	SO:0001583	missense	9879				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr5:134153352A>G		CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.2777A>G	5.37:g.134153352A>G	ENSP00000346236:p.Asn926Ser					DDX46_ENST00000354283.4_Missense_Mutation_p.N926S	p.N927S	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		20	2938	+			926					O94894|Q96EI0|Q9Y658	Missense_Mutation	SNP	ENST00000354283.4	37	c.2780A>G	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	A	8.815	0.936164	0.18206	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	T;T	0.24350	1.86;1.86	5.8	4.66	0.58398	.	0.272984	0.44097	N	0.000498	T	0.10294	0.0252	N	0.02011	-0.69	0.33205	D	0.552593	B	0.06786	0.001	B	0.09377	0.004	T	0.09292	-1.0681	10	0.30078	T	0.28	-23.0074	11.0362	0.47802	0.9266:0.0:0.0734:0.0	.	926	Q7L014	DDX46_HUMAN	S	927;926	ENSP00000416534:N927S;ENSP00000346236:N926S	ENSP00000346236:N926S	N	+	2	0	DDX46	134181251	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.255000	0.51484	1.038000	0.40049	0.533000	0.62120	AAT		0.373	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829		9	38	0	0	0	1	0	9	38				
PLCB1	23236	broad.mit.edu	37	20	8745848	8745848	+	Nonsense_Mutation	SNP	A	A	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr20:8745848A>T	ENST00000338037.6	+	26	2800	c.2773A>T	c.(2773-2775)Aaa>Taa	p.K925*	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378641.3_Nonsense_Mutation_p.K925*|PLCB1_ENST00000378637.2_Nonsense_Mutation_p.K925*	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	925					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ACTTCAAAAGAAACACTACAA	0.373																																						ENST00000378641.3																			0				NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						c.(2773-2775)Aaa>Taa		phospholipase C, beta 1 (phosphoinositide-specific)							80.0	76.0	77.0					20																	8745848		2203	4300	6503	SO:0001587	stop_gained	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8745848A>T	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.2773A>T	20.37:g.8745848A>T	ENSP00000338185:p.Lys925*					PLCB1_ENST00000338037.6_Nonsense_Mutation_p.K925*|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Nonsense_Mutation_p.K925*	p.K925*	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN			26	3248	+			925					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Nonsense_Mutation	SNP	ENST00000338037.6	37	c.2773A>T	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	A	46	12.128385	0.99638	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.3979	0.83621	1.0:0.0:0.0:0.0	.	.	.	.	X	925;925;925;845;845	.	ENSP00000338185:K925X	K	+	1	0	PLCB1	8693848	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.609000	0.67661	2.333000	0.79357	0.533000	0.62120	AAA		0.373	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			13	52	0	0	0	1	0	13	52				
GAPVD1	26130	broad.mit.edu	37	9	128099532	128099532	+	Missense_Mutation	SNP	T	T	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr9:128099532T>A	ENST00000495955.1	+	17	2829	c.2539T>A	c.(2539-2541)Tat>Aat	p.Y847N	GAPVD1_ENST00000394083.2_Missense_Mutation_p.Y826N|GAPVD1_ENST00000297933.6_Missense_Mutation_p.Y847N|GAPVD1_ENST00000265956.4_Missense_Mutation_p.Y821N|GAPVD1_ENST00000394104.2_Missense_Mutation_p.Y847N|GAPVD1_ENST00000312123.9_Missense_Mutation_p.Y826N|GAPVD1_ENST00000394105.2_Missense_Mutation_p.Y874N|GAPVD1_ENST00000470056.1_Missense_Mutation_p.Y847N			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	847					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AAAGGTTCACTATGCTAGGCC	0.478																																						ENST00000470056.1																			0				central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2539-2541)Tat>Aat		GTPase activating protein and VPS9 domains 1							84.0	84.0	84.0					9																	128099532		2203	4300	6503	SO:0001583	missense	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128099532T>A		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.2539T>A	9.37:g.128099532T>A	ENSP00000419063:p.Tyr847Asn					GAPVD1_ENST00000394105.2_Missense_Mutation_p.Y874N|GAPVD1_ENST00000297933.6_Missense_Mutation_p.Y847N|GAPVD1_ENST00000265956.4_Missense_Mutation_p.Y821N|GAPVD1_ENST00000394083.2_Missense_Mutation_p.Y826N|GAPVD1_ENST00000394104.2_Missense_Mutation_p.Y847N|GAPVD1_ENST00000312123.9_Missense_Mutation_p.Y826N|GAPVD1_ENST00000495955.1_Missense_Mutation_p.Y847N	p.Y847N			Q14C86	GAPD1_HUMAN			15	2699	+			847					A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	37	c.2539T>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.9|22.9	4.355950|4.355950	0.82243|0.82243	.|.	.|.	ENSG00000165219|ENSG00000165219	ENST00000436712|ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.60894|0.60894	0.2304|0.2304	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.76494	.|0.997;0.995;0.997;0.997;0.997;0.999	.|D;D;D;D;D;D	.|0.80764	.|0.991;0.979;0.991;0.991;0.991;0.994	T|T	0.54846|0.54846	-0.8232|-0.8232	5|9	.|0.08381	.|T	.|0.77	.|.	16.0034|16.0034	0.80327|0.80327	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|821;847;847;826;847;874	.|Q14C86-5;Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6	.|.;GAPD1_HUMAN;.;.;.;.	Q|N	683|847;874;847;821;826;847;847;847;826	.|.	.|ENSP00000265956:Y821N	L|Y	+|+	2|1	0|0	GAPVD1|GAPVD1	127139353|127139353	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.698000|7.698000	0.84413|0.84413	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	CTA|TAT		0.478	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			63	51	0	0	0	1	0	63	51				
DNAJB9	4189	broad.mit.edu	37	7	108213675	108213675	+	Missense_Mutation	SNP	T	T	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr7:108213675T>A	ENST00000249356.3	+	3	1096	c.550T>A	c.(550-552)Tct>Act	p.S184T	DNAJB9_ENST00000465725.1_Intron	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	184					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	misfolded protein binding (GO:0051787)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						TGGTTTTGACTCTACCAATCA	0.358																																						ENST00000249356.3																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						c.(550-552)Tct>Act		DnaJ (Hsp40) homolog, subfamily B, member 9							132.0	132.0	132.0					7																	108213675		2203	4300	6503	SO:0001583	missense	4189				ER-associated protein catabolic process|protein folding	endoplasmic reticulum|nucleolus	heat shock protein binding|misfolded protein binding|unfolded protein binding	g.chr7:108213675T>A	AB026908	CCDS5752.1	7q31	2011-09-02			ENSG00000128590	ENSG00000128590		"""Heat shock proteins / DNAJ (HSP40)"""	6968	protein-coding gene	gene with protein product		602634		MDG1		9533036, 11147971	Standard	NM_012328		Approved		uc003vfn.3	Q9UBS3	OTTHUMG00000154866	ENST00000249356.3:c.550T>A	7.37:g.108213675T>A	ENSP00000249356:p.Ser184Thr					DNAJB9_ENST00000465725.1_Intron	p.S184T	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN			3	1096	+			184						Missense_Mutation	SNP	ENST00000249356.3	37	c.550T>A	CCDS5752.1	.	.	.	.	.	.	.	.	.	.	T	2.888	-0.230401	0.05983	.	.	ENSG00000128590	ENST00000249356	T	0.61510	0.1	5.75	-1.19	0.09585	.	0.930016	0.09180	N	0.837523	T	0.21841	0.0526	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13683	-1.0500	9	.	.	.	.	0.6292	0.00791	0.3747:0.2422:0.1336:0.2495	.	184	Q9UBS3	DNJB9_HUMAN	T	184	ENSP00000249356:S184T	.	S	+	1	0	DNAJB9	108000911	0.190000	0.23276	0.002000	0.10522	0.943000	0.58893	1.233000	0.32648	-0.445000	0.07159	-1.422000	0.01108	TCT		0.358	DNAJB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337414.1			42	49	0	0	0	1	0	42	49				
PPP1R18	170954	broad.mit.edu	37	6	30653531	30653531	+	Nonsense_Mutation	SNP	G	G	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr6:30653531G>A	ENST00000274853.3	-	1	2141	c.265C>T	c.(265-267)Cga>Tga	p.R89*	PPP1R18_ENST00000488324.1_Intron|NRM_ENST00000470733.1_5'Flank|PPP1R18_ENST00000399199.3_Nonsense_Mutation_p.R89*	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	89						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											CGGATGAATCGGTTCTGGTGC	0.637																																						ENST00000274853.3																			0											c.(265-267)Cga>Tga		protein phosphatase 1, regulatory subunit 18							32.0	40.0	37.0					6																	30653531		1331	2610	3941	SO:0001587	stop_gained	170954					cytoplasm|cytoskeleton	actin binding	g.chr6:30653531G>A	AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29413	protein-coding gene	gene with protein product	"""protein phosphatase 1 F-actin cytoskeleton targeting subunit"""	610990	"""KIAA1949"""	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.265C>T	6.37:g.30653531G>A	ENSP00000274853:p.Arg89*					PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_Nonsense_Mutation_p.R89*	p.R89*	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN			1	2141	-			89					A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	Nonsense_Mutation	SNP	ENST00000274853.3	37	c.265C>T	CCDS43444.1	.	.	.	.	.	.	.	.	.	.	G	38	6.846475	0.97881	.	.	ENSG00000146112	ENST00000274853;ENST00000399199;ENST00000376424	.	.	.	5.03	5.03	0.67393	.	0.215521	0.23642	N	0.046005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.9021	17.2941	0.87166	0.0:0.0:1.0:0.0	.	.	.	.	X	89	.	ENSP00000274853:R89X	R	-	1	2	KIAA1949	30761510	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.968000	0.49224	2.620000	0.88729	0.655000	0.94253	CGA		0.637	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076498.2	NM_133471		14	16	0	0	0	1	0	14	16				
SPTA1	6708	broad.mit.edu	37	1	158604380	158604380	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr1:158604380C>T	ENST00000368147.4	-	39	5698	c.5518G>A	c.(5518-5520)Gct>Act	p.A1840T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1840					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACAGCCAAAGCATTCTTTTCA	0.403																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(5518-5520)Gct>Act		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							201.0	184.0	189.0					1																	158604380		1956	4144	6100	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158604380C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5518G>A	1.37:g.158604380C>T	ENSP00000357129:p.Ala1840Thr					SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.A1840T	p.A1840T	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			39	5698	-	all_hematologic(112;0.0378)		1840					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.5518G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	5.863	0.343438	0.11069	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51574	0.7;0.7	5.64	5.64	0.86602	.	0.000000	0.32120	N	0.006555	T	0.15696	0.0378	L	0.35341	1.055	0.20307	N	0.999915	B	0.22080	0.064	B	0.21151	0.033	T	0.07751	-1.0756	10	0.09590	T	0.72	.	10.4225	0.44359	0.0:0.9146:0.0:0.0854	.	1840	P02549	SPTA1_HUMAN	T	1840	ENSP00000357130:A1840T;ENSP00000357129:A1840T	ENSP00000357129:A1840T	A	-	1	0	SPTA1	156871004	0.999000	0.42202	0.273000	0.24645	0.785000	0.44390	2.571000	0.45990	2.937000	0.99478	0.650000	0.86243	GCT		0.403	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		45	49	0	0	0	1	0	45	49				
PPM1B	5495	broad.mit.edu	37	2	44428690	44428690	+	Missense_Mutation	SNP	C	C	T	rs368246958		TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr2:44428690C>T	ENST00000282412.4	+	2	764	c.352C>T	c.(352-354)Cgt>Tgt	p.R118C	PPM1B_ENST00000409895.4_Missense_Mutation_p.R118C|PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000378551.2_Missense_Mutation_p.R118C|PPM1B_ENST00000409432.3_Missense_Mutation_p.R118C|PPM1B_ENST00000345249.4_Intron	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	118					cytokine-mediated signaling pathway (GO:0019221)|N-terminal protein myristoylation (GO:0006499)|negative regulation of defense response to virus (GO:0050687)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGAATACATGCGTAACTTTTC	0.403																																						ENST00000378551.2																			0				kidney(4)|large_intestine(3)|lung(7)|skin(2)	16						c.(352-354)Cgt>Tgt		protein phosphatase, Mg2+/Mn2+ dependent, 1B		C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,	0,4406		0,0,2203	118.0	118.0	118.0		352,352,352,352,	5.7	1.0	2		118	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,intron	PPM1B	NM_001033556.1,NM_001033557.1,NM_002706.4,NM_177968.2,NM_177969.2	180,180,180,180,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,	118/328,118/381,118/480,118/388,	44428690	1,13005	2203	4300	6503	SO:0001583	missense	5495				protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr2:44428690C>T	AJ005801	CCDS1816.1, CCDS1817.1, CCDS1818.1, CCDS46271.1	2p22.1	2012-04-17	2010-03-05		ENSG00000138032	ENSG00000138032	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9276	protein-coding gene	gene with protein product	"""protein phosphatase 2C, beta isoform"""	603770	"""protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform"""			9684878	Standard	NM_002706		Approved	PPC2BETAX, PP2CB, PP2CBETA	uc002rtt.3	O75688	OTTHUMG00000128757	ENST00000282412.4:c.352C>T	2.37:g.44428690C>T	ENSP00000282412:p.Arg118Cys					PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000409895.4_Missense_Mutation_p.R118C|PPM1B_ENST00000409432.3_Missense_Mutation_p.R118C|PPM1B_ENST00000282412.4_Missense_Mutation_p.R118C	p.R118C	NM_177968.2	NP_808907.1	O75688	PPM1B_HUMAN			2	764	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	118					Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	Missense_Mutation	SNP	ENST00000282412.4	37	c.352C>T	CCDS1817.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663407	0.88251	0.0	1.16E-4	ENSG00000138032	ENST00000419807;ENST00000409895;ENST00000409432;ENST00000282412;ENST00000378551;ENST00000409473	T;T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18;2.18	5.71	5.71	0.89125	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.52789	0.1756	M	0.83774	2.66	0.80722	D	1	D;P;D;D;P	0.89917	1.0;0.918;1.0;1.0;0.927	D;B;D;D;P	0.77557	0.974;0.393;0.99;0.974;0.591	T	0.54050	-0.8351	10	0.54805	T	0.06	-15.4016	19.8632	0.96793	0.0:1.0:0.0:0.0	.	118;118;118;118;118	Q4J6C0;O75688-2;Q4J6C1;O75688;Q4J6C2	.;.;.;PPM1B_HUMAN;.	C	118	ENSP00000390087:R118C;ENSP00000387341:R118C;ENSP00000387287:R118C;ENSP00000282412:R118C;ENSP00000367813:R118C;ENSP00000386982:R118C	ENSP00000282412:R118C	R	+	1	0	PPM1B	44282194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.862000	0.62976	2.699000	0.92147	0.655000	0.94253	CGT		0.403	PPM1B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250672.1	NM_002706		20	79	0	0	0	1	0	20	79				
MC1R	4157	broad.mit.edu	37	16	89986228	89986228	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr16:89986228G>A	ENST00000555147.1	+	1	1942	c.562G>A	c.(562-564)Gtc>Atc	p.V188I	TUBB3_ENST00000554444.1_5'Flank|RP11-566K11.7_ENST00000570217.1_RNA|TUBB3_ENST00000556922.1_Missense_Mutation_p.V188I|RP11-566K11.4_ENST00000554623.1_RNA|MC1R_ENST00000555427.1_Missense_Mutation_p.V188I	NM_002386.3	NP_002377.4	Q01726	MSHR_HUMAN	melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	188					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intracellular signal transduction (GO:0035556)|melanin biosynthetic process (GO:0042438)|multicellular organismal development (GO:0007275)|negative regulation of tumor necrosis factor production (GO:0032720)|pigmentation (GO:0043473)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sensory perception of pain (GO:0019233)|UV protection (GO:0009650)|UV-damage excision repair (GO:0070914)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		CCACGTGGCCGTCCTGCTGTG	0.667									Melanoma, Familial Clustering of																													ENST00000555427.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(562-564)Gtc>Atc		melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)							44.0	47.0	46.0					16																	89986228		2178	4268	6446	SO:0001583	missense	4157	Melanoma, Familial Clustering of	Familial Cancer Database					g.chr16:89986228G>A		CCDS56011.1	16q24.3	2012-10-05			ENSG00000258839	ENSG00000258839		"""GPCR / Class A : Melanocortin receptors"""	6929	protein-coding gene	gene with protein product		155555				8458079	Standard	NM_002386		Approved	MSH-R		Q01726		ENST00000555147.1:c.562G>A	16.37:g.89986228G>A	ENSP00000451605:p.Val188Ile					MC1R_ENST00000555147.1_Missense_Mutation_p.V188I|TUBB3_ENST00000556922.1_Missense_Mutation_p.V188I	p.V188I						BRCA - Breast invasive adenocarcinoma(80;0.0273)	3	2865	+		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)						Q66K38|Q6UR93|Q8WWX6|Q8WWX7|Q96I33|Q96RU4|Q9UBF7|Q9UN58|Q9UN59|Q9UN60|Q9UN61|Q9UN62	Missense_Mutation	SNP	ENST00000555147.1	37	c.562G>A	CCDS56011.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177929	0.38413	.	.	ENSG00000258947;ENSG00000258947;ENSG00000258839	ENST00000555427;ENST00000556922;ENST00000555147	T;T;T	0.37411	1.2;1.2;1.2	4.57	3.61	0.41365	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34531	U	0.003892	T	0.29423	0.0733	L	0.55990	1.75	0.40680	D	0.982298	P	0.37398	0.593	B	0.34301	0.179	T	0.06826	-1.0805	9	.	.	.	.	8.5513	0.33453	0.2023:0.0:0.7977:0.0	.	188	Q01726	MSHR_HUMAN	I	188	ENSP00000451760:V188I;ENSP00000451560:V188I;ENSP00000451605:V188I	.	V	+	1	0	MC1R;RP11-566K11.2	88513729	1.000000	0.71417	0.549000	0.28204	0.118000	0.20060	3.804000	0.55568	0.921000	0.36994	0.305000	0.20034	GTC		0.667	MC1R-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412014.1	NM_002386		12	43	0	0	0	1	0	12	43				
THAP3	90326	broad.mit.edu	37	1	6688643	6688643	+	Silent	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr1:6688643C>T	ENST00000054650.4	+	3	317	c.159C>T	c.(157-159)gtC>gtT	p.V53V	THAP3_ENST00000307896.6_Silent_p.V53V|THAP3_ENST00000377627.3_Silent_p.V53V	NM_001195753.1	NP_001182682.1	Q8WTV1	THAP3_HUMAN	THAP domain containing, apoptosis associated protein 3	53							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|large_intestine(1)|prostate(1)	4	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		AGCACACGGTCATCTGCTCCG	0.602																																						ENST00000377627.3																			0				breast(1)|cervix(1)|large_intestine(1)|prostate(1)	4						c.(157-159)gtC>gtT		THAP domain containing, apoptosis associated protein 3							70.0	58.0	62.0					1																	6688643		2203	4300	6503	SO:0001819	synonymous_variant	90326						DNA binding|metal ion binding	g.chr1:6688643C>T	BC022081	CCDS86.1, CCDS55572.1, CCDS55573.1	1p36.1	2013-01-25			ENSG00000041988	ENSG00000041988		"""THAP (C2CH-type zinc finger) domain containing"""	20855	protein-coding gene	gene with protein product		612532				12575992	Standard	NM_138350		Approved		uc001aod.3	Q8WTV1	OTTHUMG00000001440	ENST00000054650.4:c.159C>T	1.37:g.6688643C>T						THAP3_ENST00000054650.4_Silent_p.V53V|THAP3_ENST00000307896.6_Silent_p.V53V	p.V53V	NM_138350.3	NP_612359.2	Q8WTV1	THAP3_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	2	186	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	53					Q569K1|Q5TH66|Q5TH67|Q8N8T6|Q9BSC7|Q9Y3H2|Q9Y3H3	Silent	SNP	ENST00000054650.4	37	c.159C>T	CCDS55572.1																																																																																				0.602	THAP3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004203.1	NM_138350		21	58	0	0	0	1	0	21	58				
UGGT2	55757	broad.mit.edu	37	13	96705555	96705555	+	Silent	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr13:96705555C>T	ENST00000376747.3	-	1	82	c.12G>A	c.(10-12)gcG>gcA	p.A4A	UGGT2_ENST00000376712.4_Silent_p.A4A|UGGT2_ENST00000397618.3_Silent_p.A4A|UGGT2_ENST00000376714.3_Silent_p.A4A	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	4					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TCGTGGCTTTCGCTGGCGCCA	0.692																																						ENST00000376747.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						c.(10-12)gcG>gcA		UDP-glucose glycoprotein glucosyltransferase 2							10.0	10.0	10.0					13																	96705555		2173	4255	6428	SO:0001819	synonymous_variant	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96705555C>T	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.12G>A	13.37:g.96705555C>T						UGGT2_ENST00000397618.3_Silent_p.A4A|UGGT2_ENST00000376714.3_Silent_p.A4A|UGGT2_ENST00000376712.4_Silent_p.A4A	p.A4A	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN			1	82	-			4					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Silent	SNP	ENST00000376747.3	37	c.12G>A	CCDS9480.1																																																																																				0.692	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		5	14	0	0	0	1	0	5	14				
ZNF43	7594	broad.mit.edu	37	19	21992396	21992396	+	Missense_Mutation	SNP	A	A	G			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr19:21992396A>G	ENST00000354959.4	-	4	612	c.443T>C	c.(442-444)tTt>tCt	p.F148S	ZNF43_ENST00000595461.1_Missense_Mutation_p.F142S|ZNF43_ENST00000598381.1_Missense_Mutation_p.F142S|ZNF43_ENST00000594012.1_Missense_Mutation_p.F142S	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	148					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)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ACATTTATCAAATAGAAATAT	0.323																																						ENST00000594012.1																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51						c.(424-426)tTt>tCt		zinc finger protein 43							50.0	49.0	50.0					19																	21992396		2203	4299	6502	SO:0001583	missense	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21992396A>G	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.443T>C	19.37:g.21992396A>G	ENSP00000347045:p.Phe148Ser					ZNF43_ENST00000354959.4_Missense_Mutation_p.F148S|ZNF43_ENST00000598381.1_Missense_Mutation_p.F142S|ZNF43_ENST00000595461.1_Missense_Mutation_p.F142S	p.F142S	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	7	939	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	148					A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	c.425T>C	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	A	4.930	0.172776	0.09391	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.29142	1.58	1.54	-3.08	0.05347	.	.	.	.	.	T	0.12774	0.0310	N	0.11560	0.145	0.09310	N	1	B	0.24258	0.1	B	0.22386	0.039	T	0.18713	-1.0328	9	0.54805	T	0.06	.	2.2016	0.03925	0.1972:0.4858:0.1515:0.1656	.	148	P17038	ZNF43_HUMAN	S	147;148	ENSP00000347045:F148S	ENSP00000347045:F148S	F	-	2	0	ZNF43	21784236	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.755000	0.04782	-1.070000	0.03149	-0.707000	0.03653	TTT		0.323	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		21	30	0	0	0	1	0	21	30				
YLPM1	56252	broad.mit.edu	37	14	75230901	75230901	+	Nonsense_Mutation	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr14:75230901C>T	ENST00000552421.1	+	1	833	c.709C>T	c.(709-711)Cag>Tag	p.Q237*	YLPM1_ENST00000325680.7_Nonsense_Mutation_p.Q237*|YLPM1_ENST00000238571.3_Nonsense_Mutation_p.Q237*			P49750	YLPM1_HUMAN	YLP motif containing 1	237					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCGCCCCTCCCAGGGCCATTC	0.562																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(709-711)Cag>Tag		YLP motif containing 1							84.0	87.0	86.0					14																	75230901		1910	4129	6039	SO:0001587	stop_gained	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75230901C>T	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.709C>T	14.37:g.75230901C>T	ENSP00000447921:p.Gln237*					YLPM1_ENST00000552421.1_Nonsense_Mutation_p.Q237*|YLPM1_ENST00000238571.3_Nonsense_Mutation_p.Q237*	p.Q237*	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	1	833	+			77					P49752|Q96I64|Q9P1V7	Nonsense_Mutation	SNP	ENST00000552421.1	37	c.709C>T		.	.	.	.	.	.	.	.	.	.	C	37	6.181030	0.97352	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571	.	.	.	4.55	4.55	0.56014	.	0.000000	0.44483	D	0.000458	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-6.2746	14.3553	0.66733	0.0:1.0:0.0:0.0	.	.	.	.	X	237	.	ENSP00000238571:Q237X	Q	+	1	0	YLPM1	74300654	0.995000	0.38212	1.000000	0.80357	0.995000	0.86356	1.283000	0.33237	2.345000	0.79718	0.650000	0.86243	CAG		0.562	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		24	74	0	0	0	1	0	24	74				
LRP5L	91355	broad.mit.edu	37	22	25771949	25771949	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr22:25771949G>A	ENST00000402859.2	-	0	223				LRP5L_ENST00000444995.3_De_novo_Start_OutOfFrame	NM_001135772.1	NP_001129244.1	A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like						canonical Wnt signaling pathway (GO:0060070)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)		Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						GAAGGGGTGCGTCAGGCTGCC	0.607																																						ENST00000444995.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6								low density lipoprotein receptor-related protein 5-like																																						91355							g.chr22:25771949G>A	AL137651	CCDS33626.1	22q11.23	2013-05-30			ENSG00000100068	ENSG00000100068			25323	protein-coding gene	gene with protein product							Standard	NM_182492		Approved	DKFZp434O0213	uc011ajz.2	A4QPB2	OTTHUMG00000150900	ENST00000402859.2:c.-301C>T	22.37:g.25771949G>A						LRP5L_ENST00000402859.2_De_novo_Start_OutOfFrame				A4QPB2	LRP5L_HUMAN			0	400	-								B0QYF3|B0QYF4|B2RPI5	Translation_Start_Site	SNP	ENST00000402859.2	37		CCDS33626.1																																																																																				0.607	LRP5L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_182492		11	9	0	0	0	1	0	11	9				
MYO5C	55930	broad.mit.edu	37	15	52498061	52498061	+	Missense_Mutation	SNP	A	A	C	rs367828186		TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr15:52498061A>C	ENST00000261839.7	-	37	4650	c.4489T>G	c.(4489-4491)Tat>Gat	p.Y1497D	RP11-430B1.2_ENST00000560518.1_lincRNA	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1497	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		AATTGATGATATATTCGTATA	0.299																																						ENST00000261839.7																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(4489-4491)Tat>Gat		myosin VC							94.0	87.0	89.0					15																	52498061		1806	4052	5858	SO:0001583	missense	55930					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr15:52498061A>C	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.4489T>G	15.37:g.52498061A>C	ENSP00000261839:p.Tyr1497Asp					RP11-430B1.2_ENST00000560518.1_lincRNA	p.Y1497D	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	37	4650	-			1497			Dilute.		Q6P1W8	Missense_Mutation	SNP	ENST00000261839.7	37	c.4489T>G	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.555394	0.86231	.	.	ENSG00000128833	ENST00000261839	T	0.35605	1.3	5.21	5.21	0.72293	Dilute (1);	0.135888	0.51477	D	0.000098	T	0.63379	0.2506	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.69720	-0.5069	10	0.87932	D	0	.	15.2435	0.73488	1.0:0.0:0.0:0.0	.	1497	Q9NQX4	MYO5C_HUMAN	D	1497	ENSP00000261839:Y1497D	ENSP00000261839:Y1497D	Y	-	1	0	MYO5C	50285353	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.139000	0.94554	2.184000	0.69523	0.454000	0.30748	TAT		0.299	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		24	61	0	0	0	1	0	24	61				
TSHZ2	128553	broad.mit.edu	37	20	51871909	51871909	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr20:51871909G>A	ENST00000371497.5	+	2	2799	c.1912G>A	c.(1912-1914)Gaa>Aaa	p.E638K	TSHZ2_ENST00000603338.2_Missense_Mutation_p.E635K|TSHZ2_ENST00000329613.6_Missense_Mutation_p.E635K|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	638					multicellular organismal development (GO:0007275)|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(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CCGCAAAAGTGAAACACCTCC	0.537																																						ENST00000371497.5																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(1912-1914)Gaa>Aaa		teashirt zinc finger homeobox 2							57.0	62.0	60.0					20																	51871909		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51871909G>A	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1912G>A	20.37:g.51871909G>A	ENSP00000360552:p.Glu638Lys					TSHZ2_ENST00000603338.2_Missense_Mutation_p.E635K|TSHZ2_ENST00000329613.6_Missense_Mutation_p.E635K	p.E638K	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	2799	+			638					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.1912G>A	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	G	9.818	1.184991	0.21870	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.40476	1.03;1.03	5.24	5.24	0.73138	.	0.177411	0.49305	D	0.000158	T	0.45796	0.1360	M	0.68593	2.085	0.40222	D	0.977745	B	0.30406	0.278	B	0.27887	0.084	T	0.50955	-0.8766	10	0.62326	D	0.03	-13.8958	18.8182	0.92085	0.0:0.0:1.0:0.0	.	638	Q9NRE2	TSH2_HUMAN	K	638;635;164	ENSP00000360552:E638K;ENSP00000333114:E635K	ENSP00000333114:E635K	E	+	1	0	TSHZ2	51305316	1.000000	0.71417	0.057000	0.19452	0.008000	0.06430	4.191000	0.58372	2.455000	0.83008	0.643000	0.83706	GAA		0.537	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		24	71	0	0	0	1	0	24	71				
MAGEB6	158809	broad.mit.edu	37	X	26212812	26212812	+	Silent	SNP	G	G	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chrX:26212812G>A	ENST00000379034.1	+	2	998	c.849G>A	c.(847-849)ccG>ccA	p.P283P		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	283	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						ATGCGCTGCCGAAGTCGGGTC	0.527																																						ENST00000379034.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(847-849)ccG>ccA		melanoma antigen family B, 6							139.0	128.0	132.0					X																	26212812		2202	4300	6502	SO:0001819	synonymous_variant	158809							g.chrX:26212812G>A	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.849G>A	X.37:g.26212812G>A							p.P283P	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	998	+			283			MAGE.		Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	37	c.849G>A	CCDS14217.1																																																																																				0.527	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		57	20	0	0	0	1	0	57	20				
PRKAR1A	5573	broad.mit.edu	37	17	66526546	66526546	+	Nonsense_Mutation	SNP	C	C	T	rs387906692		TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr17:66526546C>T	ENST00000589228.1	+	11	1230	c.1102C>T	c.(1102-1104)Cga>Tga	p.R368*	PRKAR1A_ENST00000588188.2_Intron|PRKAR1A_ENST00000358598.2_Nonsense_Mutation_p.R368*|PRKAR1A_ENST00000586397.1_Nonsense_Mutation_p.R368*|PRKAR1A_ENST00000392711.1_Nonsense_Mutation_p.R368*|PRKAR1A_ENST00000536854.2_Nonsense_Mutation_p.R368*	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	368					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cardiac muscle cell proliferation (GO:0060038)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sarcomere organization (GO:0045214)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					CATCCTCAAACGAAACATCCA	0.512			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of																												Ovarian(167;637 1670 33025 39608 46699 51856)	ENST00000589228.1			yes	"""Dom, Rec"""	yes	Carney complex	17	17q23-q24	5573	"""T, Mis, N, F, S"""	"""protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)"""			"""E, M"""	RET	"""myxoma, endocrine, papillary thyroid"""	papillary thyroid		0				adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31						c.(1102-1104)Cga>Tga		protein kinase, cAMP-dependent, regulatory, type I, alpha							218.0	171.0	187.0					17																	66526546		2203	4300	6503	SO:0001587	stop_gained	5573	Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;	activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding	g.chr17:66526546C>T		CCDS11678.1, CCDS62307.1	17q24.2	2014-09-17	2012-07-31		ENSG00000108946	ENSG00000108946	2.7.11.1		9388	protein-coding gene	gene with protein product	"""Carney complex type 1"""	188830	"""tissue specific extinguisher 1"""	PRKAR1, TSE1		3479018, 10973256	Standard	NM_212471		Approved	CNC1	uc002jhg.4	P10644	OTTHUMG00000180128	ENST00000589228.1:c.1102C>T	17.37:g.66526546C>T	ENSP00000464977:p.Arg368*					PRKAR1A_ENST00000392711.1_Nonsense_Mutation_p.R368*|PRKAR1A_ENST00000588188.2_Intron|PRKAR1A_ENST00000586397.1_Nonsense_Mutation_p.R368*|PRKAR1A_ENST00000358598.2_Nonsense_Mutation_p.R368*|PRKAR1A_ENST00000536854.2_Nonsense_Mutation_p.R368*	p.R368*	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN			11	1230	+	Breast(10;1.64e-13)		368					K7ER48|Q567S7	Nonsense_Mutation	SNP	ENST00000589228.1	37	c.1102C>T	CCDS11678.1	.	.	.	.	.	.	.	.	.	.	C	37	6.563258	0.97667	.	.	ENSG00000108946	ENST00000358598;ENST00000392711;ENST00000392710;ENST00000536854	.	.	.	5.63	4.64	0.57946	.	0.137882	0.47093	D	0.000249	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.1203	13.6477	0.62292	0.3987:0.6013:0.0:0.0	.	.	.	.	X	368	.	ENSP00000351410:R368X	R	+	1	2	PRKAR1A	64038141	1.000000	0.71417	0.933000	0.37362	0.994000	0.84299	2.416000	0.44644	1.330000	0.45394	0.591000	0.81541	CGA		0.512	PRKAR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449884.1			21	82	0	0	0	1	0	21	82				
CCSER2	54462	broad.mit.edu	37	10	86132166	86132166	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr10:86132166C>T	ENST00000224756.8	+	2	1543	c.1358C>T	c.(1357-1359)cCc>cTc	p.P453L	CCSER2_ENST00000372088.2_Missense_Mutation_p.P453L|CCSER2_ENST00000359979.4_Missense_Mutation_p.P453L	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	453					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)											TTTGATTCCCCCAAGGAAAAT	0.343																																						ENST00000224756.8																			0											c.(1357-1359)cCc>cTc		coiled-coil serine-rich protein 2							86.0	95.0	92.0					10																	86132166		2203	4296	6499	SO:0001583	missense	54462							g.chr10:86132166C>T		CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.1358C>T	10.37:g.86132166C>T	ENSP00000224756:p.Pro453Leu					CCSER2_ENST00000372088.2_Missense_Mutation_p.P453L|CCSER2_ENST00000359979.4_Missense_Mutation_p.P453L	p.P453L	NM_018999.2	NP_061872.2					2	1543	+								B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Missense_Mutation	SNP	ENST00000224756.8	37	c.1358C>T	CCDS31235.1	.	.	.	.	.	.	.	.	.	.	C	0.048	-1.259442	0.01445	.	.	ENSG00000107771	ENST00000359979;ENST00000224756;ENST00000372088	T;T;T	0.40756	1.02;2.36;2.36	5.28	1.93	0.25924	.	0.518919	0.16845	N	0.197169	T	0.23886	0.0578	N	0.25647	0.755	0.09310	N	1	B;B;B	0.10296	0.001;0.0;0.003	B;B;B	0.11329	0.002;0.002;0.006	T	0.09292	-1.0681	10	0.40728	T	0.16	-1.7556	2.3159	0.04198	0.2035:0.4908:0.1964:0.1094	.	453;453;453	Q9H7U1-3;Q9H7U1;Q9H7U1-2	.;F190B_HUMAN;.	L	453	ENSP00000353068:P453L;ENSP00000224756:P453L;ENSP00000361160:P453L	ENSP00000224756:P453L	P	+	2	0	FAM190B	86122146	0.097000	0.21791	0.937000	0.37676	0.764000	0.43329	1.147000	0.31602	1.189000	0.43028	0.655000	0.94253	CCC		0.343	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2	NM_018999		26	83	0	0	0	1	0	26	83				
MT-ND5	4540	broad.mit.edu	37	M	13288	13288	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chrM:13288G>A	ENST00000361567.2	+	1	952	c.952G>A	c.(952-954)Ggc>Agc	p.G318S	MT-TL2_ENST00000387456.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-TH_ENST00000387441.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TP_ENST00000387461.2_RNA|MT-TE_ENST00000387459.1_RNA|MT-TS2_ENST00000387449.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	318					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						TAGTTACAATCGGCATCAACC	0.458																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(952-954)Ggc>Agc		mitochondrially encoded NADH dehydrogenase 5	NADH(DB00157)																																			SO:0001583	missense	4540				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrM:13288G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.952G>A	M.37:g.13288G>A	ENSP00000354813:p.Gly318Ser						p.G318S			P03915	NU5M_HUMAN			1	952	+			318					Q34773|Q8WCY3	Missense_Mutation	SNP	ENST00000361567.2	37	c.952G>A																																																																																					0.458	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		5	11	0	0	0	1	0	5	11				
LTA4H	4048	broad.mit.edu	37	12	96429180	96429180	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr12:96429180C>T	ENST00000228740.2	-	1	259	c.118G>A	c.(118-120)Gct>Act	p.A40T	LTA4H_ENST00000552789.1_Intron|LTA4H_ENST00000413268.2_Intron	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	40					arachidonic acid metabolic process (GO:0019369)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|peptide catabolic process (GO:0043171)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|leukotriene-A4 hydrolase activity (GO:0004463)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12					Captopril(DB01197)	ACCGTGAGAGCAGCAGTCCCG	0.672																																						ENST00000228740.2																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						c.(118-120)Gct>Act		leukotriene A4 hydrolase							30.0	27.0	28.0					12																	96429180		2203	4300	6503	SO:0001583	missense	4048				hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr12:96429180C>T	BC032528	CCDS9059.1, CCDS58266.1, CCDS58267.1	12q22	2005-10-06				ENSG00000111144	3.3.2.6		6710	protein-coding gene	gene with protein product		151570				7628486	Standard	NM_000895		Approved		uc001ten.2	P09960	OTTHUMG00000170355	ENST00000228740.2:c.118G>A	12.37:g.96429180C>T	ENSP00000228740:p.Ala40Thr					LTA4H_ENST00000413268.2_Intron|LTA4H_ENST00000552789.1_Intron	p.A40T	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN			1	259	-			40					B4DNQ9|F8VV40|Q6IAT6|Q9UCT7	Missense_Mutation	SNP	ENST00000228740.2	37	c.118G>A	CCDS9059.1	.	.	.	.	.	.	.	.	.	.	C	9.961	1.222903	0.22457	.	.	ENSG00000111144	ENST00000228740	T	0.02280	4.36	5.2	2.01	0.26516	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.222920	0.45606	D	0.000352	T	0.00695	0.0023	N	0.00483	-1.445	0.58432	D	0.999999	B	0.09022	0.002	B	0.10450	0.005	T	0.48127	-0.9062	10	0.02654	T	1	-7.2243	9.0827	0.36561	0.288:0.5719:0.1401:0.0	.	40	P09960	LKHA4_HUMAN	T	40	ENSP00000228740:A40T	ENSP00000228740:A40T	A	-	1	0	LTA4H	94953311	0.497000	0.26067	0.482000	0.27366	0.647000	0.38526	0.909000	0.28558	0.621000	0.30232	0.561000	0.74099	GCT		0.672	LTA4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408655.1	NM_000895		9	9	0	0	0	1	0	9	9				
ETV1	2115	broad.mit.edu	37	7	14026302	14026302	+	Nonsense_Mutation	SNP	G	G	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr7:14026302G>A	ENST00000430479.1	-	5	809	c.142C>T	c.(142-144)Caa>Taa	p.Q48*	ETV1_ENST00000399357.3_5'Flank|ETV1_ENST00000405358.4_Nonsense_Mutation_p.Q62*|ETV1_ENST00000403685.1_Nonsense_Mutation_p.Q48*|ETV1_ENST00000242066.5_Nonsense_Mutation_p.Q48*|ETV1_ENST00000343495.5_Nonsense_Mutation_p.Q48*|ETV1_ENST00000420159.2_5'Flank|ETV1_ENST00000405192.2_Nonsense_Mutation_p.Q48*|ETV1_ENST00000476720.2_5'Flank|ETV1_ENST00000403527.1_5'Flank|ETV1_ENST00000405218.2_Nonsense_Mutation_p.Q48*	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	48					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	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 RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTTAGATCTTGAAAGAGTTCT	0.303			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																	ENST00000343495.5				Dom	yes		7	7p22	2115	T	ets variant gene 1			"""M, E"""	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""		"""Ewing sarcoma, prostate"""	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(142-144)Caa>Taa		ets variant 1							81.0	69.0	73.0					7																	14026302		1813	4067	5880	SO:0001587	stop_gained	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:14026302G>A		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.142C>T	7.37:g.14026302G>A	ENSP00000405327:p.Gln48*					ETV1_ENST00000405218.2_Nonsense_Mutation_p.Q48*|ETV1_ENST00000405358.4_Nonsense_Mutation_p.Q62*|ETV1_ENST00000405192.2_Nonsense_Mutation_p.Q48*|ETV1_ENST00000403685.1_Nonsense_Mutation_p.Q48*|ETV1_ENST00000430479.1_Nonsense_Mutation_p.Q48*|ETV1_ENST00000242066.5_Nonsense_Mutation_p.Q48*	p.Q48*			P50549	ETV1_HUMAN			5	880	-			48					A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Nonsense_Mutation	SNP	ENST00000430479.1	37	c.142C>T	CCDS55088.1	.	.	.	.	.	.	.	.	.	.	G	38	6.895633	0.97916	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000405192;ENST00000405358;ENST00000405218;ENST00000403685;ENST00000421381;ENST00000431887	.	.	.	5.95	5.95	0.96441	.	0.166812	0.56097	D	0.000040	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.3812	0.98933	0.0:0.0:1.0:0.0	.	.	.	.	X	48;48;48;48;62;48;48;48;48	.	ENSP00000242066:Q48X	Q	-	1	0	ETV1	13992827	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.185000	0.94900	2.821000	0.97095	0.650000	0.86243	CAA		0.303	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		7	39	0	0	0	1	0	7	39				
NOTCH3	4854	broad.mit.edu	37	19	15288454	15288454	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr19:15288454C>G	ENST00000263388.2	-	24	4360	c.4285G>C	c.(4285-4287)Gag>Cag	p.E1429Q		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1429					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TGCAGCGCCTCGCATTGCCGC	0.726																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(4285-4287)Gag>Cag		notch 3																																				SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15288454C>G	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.4285G>C	19.37:g.15288454C>G	ENSP00000263388:p.Glu1429Gln						p.E1429Q	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		24	4360	-			1429					Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.4285G>C	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	8.039	0.763449	0.15914	.	.	ENSG00000074181	ENST00000263388	D	0.91407	-2.84	4.66	2.36	0.29203	Notch domain (4);	.	.	.	.	T	0.75339	0.3836	N	0.04636	-0.2	0.26232	N	0.979007	B	0.13145	0.007	B	0.17433	0.018	T	0.60500	-0.7251	9	0.06891	T	0.86	.	8.7661	0.34704	0.128:0.5921:0.2799:0.0	.	1429	Q9UM47	NOTC3_HUMAN	Q	1429	ENSP00000263388:E1429Q	ENSP00000263388:E1429Q	E	-	1	0	NOTCH3	15149454	0.940000	0.31905	1.000000	0.80357	0.908000	0.53690	0.400000	0.20932	0.912000	0.36772	0.313000	0.20887	GAG		0.726	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		3	7	0	0	0	1	0	3	7				
ARID5A	10865	broad.mit.edu	37	2	97217910	97217910	+	Missense_Mutation	SNP	G	G	A	rs544853265	byFrequency	TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr2:97217910G>A	ENST00000357485.3	+	7	1723	c.1645G>A	c.(1645-1647)Gct>Act	p.A549T	ARID5A_ENST00000454558.2_Missense_Mutation_p.A481T	NM_212481.1	NP_997646.1	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	549					chondrocyte differentiation (GO:0002062)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						GCCCATGGCCGCTGGCCTGAT	0.687													G|||	2	0.000399361	0.0	0.0	5008	,	,		17003	0.0		0.001	False		,,,				2504	0.001					ENST00000454558.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						c.(1441-1443)Gct>Act		AT rich interactive domain 5A (MRF1-like)							83.0	88.0	86.0					2																	97217910		2203	4300	6503	SO:0001583	missense	10865				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding	g.chr2:97217910G>A	M62324	CCDS33251.1	2p11.1	2013-02-07			ENSG00000196843	ENSG00000196843		"""-"""	17361	protein-coding gene	gene with protein product	"""modulator recognition factor 1"""	611583				8649988	Standard	NM_212481		Approved	MRF-1, RP11-363D14	uc002swe.3	Q03989	OTTHUMG00000155229	ENST00000357485.3:c.1645G>A	2.37:g.97217910G>A	ENSP00000350078:p.Ala549Thr					ARID5A_ENST00000357485.3_Missense_Mutation_p.A549T	p.A481T			Q03989	ARI5A_HUMAN			7	2618	+			549					Q6NX37	Missense_Mutation	SNP	ENST00000357485.3	37	c.1441G>A	CCDS33251.1	.	.	.	.	.	.	.	.	.	.	G	0.668	-0.802888	0.02841	.	.	ENSG00000196843	ENST00000357485;ENST00000454558	T	0.64991	-0.13	4.78	-4.53	0.03462	.	0.809251	0.10742	N	0.639265	T	0.41511	0.1162	N	0.20685	0.6	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.08055	0.001;0.003	T	0.18178	-1.0345	10	0.25106	T	0.35	.	12.0502	0.53503	0.7189:0.0:0.2811:0.0	.	481;549	C9J1Q0;Q03989	.;ARI5A_HUMAN	T	549;481	ENSP00000350078:A549T	ENSP00000350078:A549T	A	+	1	0	ARID5A	96581637	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.091000	0.01355	-1.167000	0.02779	-1.000000	0.02509	GCT		0.687	ARID5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338888.2	NM_212481		48	136	0	0	0	1	0	48	136				
NFE2L3	9603	broad.mit.edu	37	7	26224633	26224633	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr7:26224633C>G	ENST00000056233.3	+	4	1574	c.1315C>G	c.(1315-1317)Cac>Gac	p.H439D		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	439					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						TAATTCCTCTCACTCTGTGTG	0.413																																						ENST00000056233.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						c.(1315-1317)Cac>Gac		nuclear factor, erythroid 2-like 3							132.0	142.0	138.0					7																	26224633		2203	4300	6503	SO:0001583	missense	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26224633C>G	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1315C>G	7.37:g.26224633C>G	ENSP00000056233:p.His439Asp						p.H439D	NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN			4	1574	+			439					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	ENST00000056233.3	37	c.1315C>G	CCDS5396.1	.	.	.	.	.	.	.	.	.	.	C	0.289	-0.981091	0.02197	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	T	0.28666	1.6	5.08	1.22	0.21188	.	0.766160	0.12618	N	0.453245	T	0.24122	0.0584	L	0.51422	1.61	0.09310	N	1	B	0.14438	0.01	B	0.14023	0.01	T	0.22173	-1.0224	10	0.40728	T	0.16	-1.8621	4.7682	0.13142	0.0:0.5563:0.1644:0.2792	.	439	Q9Y4A8	NF2L3_HUMAN	D	439;145	ENSP00000056233:H439D	ENSP00000056233:H439D	H	+	1	0	NFE2L3	26191158	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	0.378000	0.20569	0.346000	0.23899	0.591000	0.81541	CAC		0.413	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			68	104	0	0	0	1	0	68	104				
NPHP4	261734	broad.mit.edu	37	1	5933374	5933374	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr1:5933374C>T	ENST00000378156.4	-	23	3518	c.3253G>A	c.(3253-3255)Gag>Aag	p.E1085K	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1085					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		ATGCCCTTCTCGTTGCTCAAC	0.577																																						ENST00000378156.4																			0				NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.(3253-3255)Gag>Aag		nephronophthisis 4							105.0	113.0	111.0					1																	5933374		2153	4256	6409	SO:0001583	missense	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5933374C>T	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.3253G>A	1.37:g.5933374C>T	ENSP00000367398:p.Glu1085Lys					NPHP4_ENST00000478423.2_5'UTR	p.E1085K	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	23	3518	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	1085					Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	c.3253G>A	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	C	0.110	-1.139091	0.01742	.	.	ENSG00000131697	ENST00000378156	T	0.71222	-0.55	4.59	0.392	0.16288	.	0.569576	0.17361	N	0.177034	T	0.50188	0.1601	L	0.35723	1.085	0.18873	N	0.999989	B	0.21309	0.054	B	0.09377	0.004	T	0.24870	-1.0148	10	0.12103	T	0.63	.	4.8421	0.13496	0.0:0.5706:0.1541:0.2754	.	1085	O75161	NPHP4_HUMAN	K	1085	ENSP00000367398:E1085K	ENSP00000367398:E1085K	E	-	1	0	NPHP4	5855961	0.010000	0.17322	0.034000	0.17996	0.023000	0.10783	0.012000	0.13287	-0.124000	0.11724	-0.226000	0.12346	GAG		0.577	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			26	61	0	0	0	1	0	26	61				
NPR3	4883	broad.mit.edu	37	5	32712623	32712623	+	Silent	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr5:32712623C>T	ENST00000265074.8	+	1	1084	c.741C>T	c.(739-741)atC>atT	p.I247I	NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415167.2_Silent_p.I247I|NPR3_ENST00000415685.2_Intron	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	247					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TGGAAGACATCGTGCGCAATA	0.622																																						ENST00000265074.8																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(739-741)atC>atT		natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	Nesiritide(DB04899)						92.0	101.0	98.0					5																	32712623		1997	4185	6182	SO:0001819	synonymous_variant	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32712623C>T		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.741C>T	5.37:g.32712623C>T						NPR3_ENST00000415167.2_Silent_p.I247I|NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415685.2_Intron	p.I247I	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN			1	1084	+			247					A2RRD1|B4DT84|E7EPG9	Silent	SNP	ENST00000265074.8	37	c.741C>T	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	C	8.702	0.910002	0.17833	.	.	ENSG00000113389	ENST00000507141	.	.	.	4.44	1.53	0.23141	.	.	.	.	.	T	0.51483	0.1677	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35798	-0.9774	4	.	.	.	-8.899	5.0464	0.14487	0.1549:0.6222:0.1405:0.0824	.	.	.	.	C	63	.	.	R	+	1	0	NPR3	32748380	0.836000	0.29430	0.999000	0.59377	0.995000	0.86356	-0.117000	0.10708	0.107000	0.17824	0.555000	0.69702	CGT		0.622	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		60	70	0	0	0	1	0	60	70				
PPFIA3	8541	broad.mit.edu	37	19	49639162	49639162	+	Silent	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr19:49639162C>T	ENST00000334186.4	+	14	1996	c.1647C>T	c.(1645-1647)gtC>gtT	p.V549V	PPFIA3_ENST00000602351.1_Silent_p.V549V	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	549					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GGTCAGGGGTCAAGGAGGAGC	0.627																																						ENST00000334186.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35						c.(1645-1647)gtC>gtT		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3							29.0	30.0	30.0					19																	49639162		2203	4300	6503	SO:0001819	synonymous_variant	8541					cell surface|cytoplasm	protein binding	g.chr19:49639162C>T	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.1647C>T	19.37:g.49639162C>T						PPFIA3_ENST00000602351.1_Silent_p.V549V	p.V549V	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	14	1996	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	549					A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Silent	SNP	ENST00000334186.4	37	c.1647C>T	CCDS12758.1																																																																																				0.627	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		8	19	0	0	0	1	0	8	19				
PCDH20	64881	broad.mit.edu	37	13	61987898	61987898	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr13:61987898C>T	ENST00000409186.1	-	5	2439	c.334G>A	c.(334-336)Gag>Aag	p.E112K	PCDH20_ENST00000409204.4_Missense_Mutation_p.E112K			Q8N6Y1	PCD20_HUMAN	protocadherin 20	112	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)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGGTTCCACTCAGCACCGGTG	0.687																																						ENST00000409186.1																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(334-336)Gag>Aag		protocadherin 20							23.0	20.0	21.0					13																	61987898		2203	4300	6503	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61987898C>T	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.334G>A	13.37:g.61987898C>T	ENSP00000386653:p.Glu112Lys					PCDH20_ENST00000409204.4_Missense_Mutation_p.E112K	p.E112K			Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	5	2439	-		Breast(118;0.195)|Prostate(109;0.229)	85			Cadherin 1.		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.334G>A	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	C	5.636	0.301968	0.10678	.	.	ENSG00000197991	ENST00000409204;ENST00000409186	T;T	0.54675	0.56;0.56	5.42	2.66	0.31614	.	0.452980	0.20684	N	0.087582	T	0.30479	0.0766	N	0.14661	0.345	0.09310	N	1	B	0.13594	0.008	B	0.09377	0.004	T	0.17048	-1.0382	10	0.17832	T	0.49	.	8.9911	0.36024	0.1559:0.5425:0.3016:0.0	.	112	A8K1K9	.	K	112	ENSP00000387250:E112K;ENSP00000386653:E112K	ENSP00000386653:E112K	E	-	1	0	PCDH20	60885899	0.001000	0.12720	0.003000	0.11579	0.306000	0.27790	0.297000	0.19101	0.217000	0.20800	0.586000	0.80456	GAG		0.687	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		4	24	0	0	0	1	0	4	24				
OR2L2	26246	broad.mit.edu	37	1	248201645	248201645	+	Missense_Mutation	SNP	G	G	A	rs376676364		TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr1:248201645G>A	ENST00000366479.2	+	1	172	c.76G>A	c.(76-78)Gta>Ata	p.V26I	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	26						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V26L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TGGCCTTTTCGTATTCACCCT	0.378																																						ENST00000366479.2																			1	Substitution - Missense(1)	p.V26L(1)	endometrium(1)	NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42						c.(76-78)Gta>Ata		olfactory receptor, family 2, subfamily L, member 2		G	ILE/VAL,	1,4405		0,1,2202	181.0	173.0	176.0		76,	-4.2	0.0	1		176	0,8600		0,0,4300	no	missense,intron	OR2L2,OR2L13	NM_001004686.2,NM_175911.2	29,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,	26/313,	248201645	1,13005	2203	4300	6503	SO:0001583	missense	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248201645G>A	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.76G>A	1.37:g.248201645G>A	ENSP00000355435:p.Val26Ile					OR2L13_ENST00000366478.2_Intron	p.V26I	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	172	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		26					Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	c.76G>A	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	6.088	0.384530	0.11524	2.27E-4	0.0	ENSG00000203663	ENST00000366479	T	0.02916	4.11	2.09	-4.17	0.03857	.	.	.	.	.	T	0.03695	0.0105	M	0.76328	2.33	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36529	-0.9744	9	0.56958	D	0.05	.	2.3478	0.04276	0.1553:0.5206:0.1548:0.1693	.	26	Q8NH16	OR2L2_HUMAN	I	26	ENSP00000355435:V26I	ENSP00000355435:V26I	V	+	1	0	OR2L2	246268268	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-7.770000	0.00030	-2.560000	0.00474	-2.658000	0.00147	GTA		0.378	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		21	122	0	0	0	1	0	21	122				
METTL8	79828	broad.mit.edu	37	2	172187192	172187192	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr2:172187192C>T	ENST00000375258.4	-	7	952	c.737G>A	c.(736-738)aGa>aAa	p.R246K		NM_024770.3	NP_079046.2	Q9H825	METL8_HUMAN	methyltransferase like 8	246						cytoplasm (GO:0005737)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	11						CTGGGTTGCTCTGTAGGACGA	0.388																																						ENST00000375258.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	11						c.(736-738)aGa>aAa		methyltransferase like 8							113.0	98.0	103.0					2																	172187192		2203	4300	6503	SO:0001583	missense	79828						methyltransferase activity	g.chr2:172187192C>T	AK024046	CCDS2242.1, CCDS2242.2	2q31.1	2012-06-12			ENSG00000123600	ENSG00000123600			25856	protein-coding gene	gene with protein product	"""tension-induced/inhibited protein"""	609525				15992539	Standard	NM_024770		Approved	FLJ13984, TIP	uc010zdo.2	Q9H825	OTTHUMG00000132261	ENST00000375258.4:c.737G>A	2.37:g.172187192C>T	ENSP00000364407:p.Arg246Lys						p.R246K			B3KW44	B3KW44_HUMAN			7	952	-			246					Q53TM9|Q53TQ0	Missense_Mutation	SNP	ENST00000375258.4	37	c.737G>A		.	.	.	.	.	.	.	.	.	.	C	16.80	3.223687	0.58668	.	.	ENSG00000123600	ENST00000375258;ENST00000392599	T;T	0.16597	3.65;2.33	6.17	6.17	0.99709	Methyltransferase type 11 (1);	0.297874	0.42682	D	0.000666	T	0.10637	0.0260	N	0.11756	0.17	0.23260	N	0.998026	P;B;P	0.39424	0.673;0.013;0.673	B;B;B	0.37550	0.253;0.063;0.253	T	0.24941	-1.0146	10	0.46703	T	0.11	1.6423	11.7019	0.51575	0.0:0.8958:0.0:0.1042	.	201;246;246	B4DLT0;B3KW44;Q9H825	.;.;METL8_HUMAN	K	246;208	ENSP00000364407:R246K;ENSP00000376377:R208K	ENSP00000364407:R246K	R	-	2	0	METTL8	171895438	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.949000	0.49074	2.941000	0.99782	0.655000	0.94253	AGA		0.388	METTL8-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255345.3	NM_024770		25	21	0	0	0	1	0	25	21				
WWP2	11060	broad.mit.edu	37	16	69874115	69874115	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr16:69874115G>C	ENST00000359154.2	+	5	528	c.427G>C	c.(427-429)Ggg>Cgg	p.G143R	WWP2_ENST00000356003.2_Missense_Mutation_p.G143R|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Missense_Mutation_p.G143R|WWP2_ENST00000542271.1_Missense_Mutation_p.G27R|WWP2_ENST00000569174.1_Missense_Mutation_p.G143R	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	143					cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)	p.G143R(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTTCCTGGACGGGCCAACTGT	0.582																																						ENST00000359154.2																			1	Substitution - Missense(1)	p.G143R(1)	breast(1)	breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(427-429)Ggg>Cgg		WW domain containing E3 ubiquitin protein ligase 2							112.0	93.0	99.0					16																	69874115		2198	4300	6498	SO:0001583	missense	11060				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	g.chr16:69874115G>C	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.427G>C	16.37:g.69874115G>C	ENSP00000352069:p.Gly143Arg					WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000542271.1_Missense_Mutation_p.G27R|WWP2_ENST00000356003.2_Missense_Mutation_p.G143R|WWP2_ENST00000448661.1_Missense_Mutation_p.G143R|WWP2_ENST00000569174.1_Missense_Mutation_p.G143R	p.G143R	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN			5	528	+			143					A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Missense_Mutation	SNP	ENST00000359154.2	37	c.427G>C	CCDS10885.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581625	0.86748	.	.	ENSG00000198373	ENST00000359154;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	T;T;T;T	0.48836	0.8;0.8;0.8;1.09	5.37	5.37	0.77165	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.54255	0.1847	M	0.77313	2.365	0.80722	D	1	D	0.56287	0.975	P	0.47251	0.542	T	0.59005	-0.7535	9	.	.	.	.	11.7041	0.51587	0.0843:0.0:0.9157:0.0	.	143	O00308	WWP2_HUMAN	R	143;143;143;30;27	ENSP00000352069:G143R;ENSP00000396871:G143R;ENSP00000348283:G143R;ENSP00000445616:G27R	.	G	+	1	0	WWP2	68431616	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.825000	0.75293	2.512000	0.84698	0.655000	0.94253	GGG		0.582	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		24	82	0	0	0	1	0	24	82				
NCOA2	10499	broad.mit.edu	37	8	71068871	71068871	+	Missense_Mutation	SNP	T	T	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr8:71068871T>A	ENST00000452400.2	-	11	1910	c.1729A>T	c.(1729-1731)Atg>Ttg	p.M577L	NCOA2_ENST00000524223.1_5'UTR	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	577					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			AAGCTTCCCATCTTGCTGAGT	0.493			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	ENST00000452400.2				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	"""RUNXBP2, HEY1"""		"""AML, Chondrosarcoma"""	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.(1729-1731)Atg>Ttg		nuclear receptor coactivator 2							109.0	105.0	106.0					8																	71068871		1876	4122	5998	SO:0001583	missense	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71068871T>A	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.1729A>T	8.37:g.71068871T>A	ENSP00000399968:p.Met577Leu					NCOA2_ENST00000524223.1_5'UTR	p.M577L	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		11	1910	-	Breast(64;0.201)		577					Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	c.1729A>T	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	T	9.487	1.099753	0.20552	.	.	ENSG00000140396	ENST00000452400	T	0.01430	4.9	5.93	5.93	0.95920	.	0.125811	0.64402	D	0.000001	T	0.01695	0.0054	L	0.29908	0.895	0.80722	D	1	B	0.17852	0.024	B	0.11329	0.006	T	0.62455	-0.6851	10	0.16896	T	0.51	.	16.3766	0.83401	0.0:0.0:0.0:1.0	.	577	Q15596	NCOA2_HUMAN	L	577	ENSP00000399968:M577L	ENSP00000399968:M577L	M	-	1	0	NCOA2	71231425	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.276000	0.58933	2.263000	0.75096	0.533000	0.62120	ATG		0.493	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			32	147	0	0	0	1	0	32	147				
SYT1	6857	broad.mit.edu	37	12	79693186	79693186	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr12:79693186G>A	ENST00000261205.4	+	8	1322	c.665G>A	c.(664-666)gGc>gAc	p.G222D	SYT1_ENST00000552744.1_Missense_Mutation_p.G222D|SYT1_ENST00000457153.2_Missense_Mutation_p.G219D|SYT1_ENST00000393240.3_Missense_Mutation_p.G222D	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	222	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						GAATTGGGTGGCAAAACCCTA	0.358																																						ENST00000261205.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						c.(664-666)gGc>gAc		synaptotagmin I							142.0	142.0	142.0					12																	79693186		2203	4299	6502	SO:0001583	missense	6857				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	g.chr12:79693186G>A		CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"""Synaptotagmins"""	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.665G>A	12.37:g.79693186G>A	ENSP00000261205:p.Gly222Asp					SYT1_ENST00000393240.3_Missense_Mutation_p.G222D|SYT1_ENST00000552744.1_Missense_Mutation_p.G222D|SYT1_ENST00000457153.2_Missense_Mutation_p.G219D	p.G222D	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN			8	1322	+			222			C2 1.|Phospholipid binding (Probable).		Q6AI31	Missense_Mutation	SNP	ENST00000261205.4	37	c.665G>A	CCDS9017.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.433520|4.433520	0.83776|0.83776	.|.	.|.	ENSG00000067715|ENSG00000067715	ENST00000549559|ENST00000393240;ENST00000261205;ENST00000457153;ENST00000552744	.|T;T;T;T	.|0.07567	.|3.18;3.18;3.18;3.18	5.7|5.7	5.7|5.7	0.88788|0.88788	.|C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.12347|0.12347	0.0300|0.0300	N|N	0.20766|0.20766	0.605|0.605	0.80722|0.80722	D|D	1|1	.|P;P	.|0.49783	.|0.928;0.928	.|P;P	.|0.51742	.|0.678;0.678	T|T	0.15435|0.15435	-1.0437|-1.0437	5|10	.|0.30078	.|T	.|0.28	.|.	19.8429|19.8429	0.96697|0.96697	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|222;222	.|Q6AI31;P21579	.|.;SYT1_HUMAN	T|D	124|222;222;219;222	.|ENSP00000376932:G222D;ENSP00000261205:G222D;ENSP00000391056:G219D;ENSP00000447575:G222D	.|ENSP00000261205:G222D	A|G	+|+	1|2	0|0	SYT1|SYT1	78217317|78217317	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	9.869000|9.869000	0.99810|0.99810	2.685000|2.685000	0.91497|0.91497	0.650000|0.650000	0.86243|0.86243	GCA|GGC		0.358	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259415.1	NM_005639		4	148	0	0	0	1	0	4	148				
C2orf82	389084	broad.mit.edu	37	2	233740979	233740979	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr2:233740979C>G	ENST00000409230.1	+	4	526	c.279C>G	c.(277-279)atC>atG	p.I93M	C2orf82_ENST00000331342.2_Missense_Mutation_p.I93M|C2orf82_ENST00000409533.1_Missense_Mutation_p.I93M			Q6UX34	CB082_HUMAN	chromosome 2 open reading frame 82	93						cell periphery (GO:0071944)|integral component of membrane (GO:0016021)											CCGGCGCTATCGCGGCCATCG	0.716																																						ENST00000409230.1																			0											c.(277-279)atC>atG		chromosome 2 open reading frame 82							10.0	11.0	11.0					2																	233740979		2138	4203	6341	SO:0001583	missense	389084					integral to membrane		g.chr2:233740979C>G	AY358535, BC035093	CCDS2499.1	2q37.1	2013-10-11			ENSG00000182600	ENSG00000182600			33763	protein-coding gene	gene with protein product						12975309	Standard	NM_206895		Approved	UNQ830, ASCL830	uc002vtr.1	Q6UX34	OTTHUMG00000133273	ENST00000409230.1:c.279C>G	2.37:g.233740979C>G	ENSP00000386804:p.Ile93Met					C2orf82_ENST00000409533.1_Missense_Mutation_p.I93M|C2orf82_ENST00000331342.2_Missense_Mutation_p.I93M	p.I93M			Q6UX34	CB082_HUMAN			4	526	+			93						Missense_Mutation	SNP	ENST00000409230.1	37	c.279C>G	CCDS2499.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.42|17.42	3.386179|3.386179	0.61956|0.61956	.|.	.|.	ENSG00000182600|ENSG00000182600	ENST00000409533;ENST00000409230;ENST00000331342|ENST00000449331	.|.	.|.	.|.	4.11|4.11	-0.196|-0.196	0.13232|0.13232	.|.	0.140021|.	0.32987|.	N|.	0.005417|.	T|T	0.40473|0.40473	0.1118|0.1118	L|L	0.32530|0.32530	0.975|0.975	0.40710|0.40710	D|D	0.98256|0.98256	D|.	0.76494|.	0.999|.	D|.	0.70487|.	0.969|.	T|T	0.16689|0.16689	-1.0394|-1.0394	9|5	0.72032|.	D|.	0.01|.	-14.3663|-14.3663	5.2303|5.2303	0.15418|0.15418	0.0:0.3876:0.1497:0.4627|0.0:0.3876:0.1497:0.4627	.|.	93|.	Q6UX34|.	CB082_HUMAN|.	M|G	93|112	.|.	ENSP00000333208:I93M|.	I|R	+|+	3|1	3|0	C2orf82|C2orf82	233449223|233449223	0.939000|0.939000	0.31865|0.31865	0.998000|0.998000	0.56505|0.56505	0.908000|0.908000	0.53690|0.53690	-0.135000|-0.135000	0.10420|0.10420	0.161000|0.161000	0.19458|0.19458	0.306000|0.306000	0.20318|0.20318	ATC|CGC		0.716	C2orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257052.2	NM_206895		5	2	0	0	0	1	0	5	2				
DGCR5	26220	broad.mit.edu	37	22	18979485	18979485	+	RNA	SNP	A	A	G			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr22:18979485A>G	ENST00000421572.1	+	0	1136				DGCR5_ENST00000537283.1_RNA|DGCR5_ENST00000440005.2_RNA|DGCR5_ENST00000438934.1_RNA					DiGeorge syndrome critical region gene 5 (non-protein coding)																		GTGTTCTGGAACCATTCCCTG	0.587																																						ENST00000438934.1																			0																																																			26220							g.chr22:18979485A>G	X91348		22q11	2012-10-16	2008-08-13		ENSG00000237517	ENSG00000237517		"""Long non-coding RNAs"""	16757	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 37"", ""long intergenic non-protein coding RNA 37"""					8659529	Standard	NR_002733		Approved	NCRNA00037, LINC00037	uc021wku.1		OTTHUMG00000149977		22.37:g.18979485A>G						DGCR5_ENST00000440005.2_RNA								0	2836	+									RNA	SNP	ENST00000421572.1	37																																																																																						0.587	DGCR5-004	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000316630.1	NR_002733		9	16	0	0	0	1	0	9	16				
CROCCP2	84809	broad.mit.edu	37	1	16946396	16946396	+	lincRNA	SNP	C	C	T	rs367013	byFrequency	TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr1:16946396C>T	ENST00000412962.1	-	0	1123				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TGCTGCAGGGCAGCAATCTCC	0.667																																						ENST00000412962.1																			0																																																			84809							g.chr1:16946396C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946396C>T														0	1123	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.667	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		11	30	0	0	0	1	0	11	30				
TTF1	7270	broad.mit.edu	37	9	135251515	135251515	+	Silent	SNP	C	C	T	rs540254981		TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr9:135251515C>T	ENST00000334270.2	-	11	2544	c.2505G>A	c.(2503-2505)ctG>ctA	p.L835L	TTF1_ENST00000461970.1_5'UTR	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	835					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		ACTTTTCCTTCAGCAAAGGTA	0.383													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20282	0.0		0.0	False		,,,				2504	0.0					ENST00000334270.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(2503-2505)ctG>ctA		transcription termination factor, RNA polymerase I							134.0	127.0	130.0					9																	135251515		2203	4300	6503	SO:0001819	synonymous_variant	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135251515C>T	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.2505G>A	9.37:g.135251515C>T						TTF1_ENST00000461970.1_5'UTR	p.L835L	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	11	2544	-		Myeloproliferative disorder(178;0.204)	835					A1L160|Q4VXF3|Q58EY2|Q6P5T5	Silent	SNP	ENST00000334270.2	37	c.2505G>A	CCDS6948.1																																																																																				0.383	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		40	73	0	0	0	1	0	40	73				
DAGLA	747	broad.mit.edu	37	11	61495637	61495637	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr11:61495637G>A	ENST00000257215.5	+	7	765	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	217					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		TGCCTACTCAGAAATCGCCTA	0.622																																						ENST00000257215.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.(649-651)Gaa>Aaa		diacylglycerol lipase, alpha							178.0	163.0	168.0					11																	61495637		2202	4299	6501	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61495637G>A	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.649G>A	11.37:g.61495637G>A	ENSP00000257215:p.Glu217Lys						p.E217K	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	7	765	+			217					A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.649G>A	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	G	32	5.170000	0.94768	.	.	ENSG00000134780	ENST00000257215	T	0.25085	1.82	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.47544	0.1451	L	0.53249	1.67	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	T	0.44205	-0.9343	10	0.56958	D	0.05	-14.2694	18.4262	0.90610	0.0:0.0:1.0:0.0	.	217	Q9Y4D2	DGLA_HUMAN	K	217	ENSP00000257215:E217K	ENSP00000257215:E217K	E	+	1	0	DAGLA	61252213	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	9.359000	0.97115	2.430000	0.82344	0.555000	0.69702	GAA		0.622	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		29	52	0	0	0	1	0	29	52				
COL25A1	84570	broad.mit.edu	37	4	110221803	110221803	+	Silent	SNP	G	G	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr4:110221803G>T	ENST00000399132.1	-	3	833	c.303C>A	c.(301-303)tcC>tcA	p.S101S	COL25A1_ENST00000399127.1_Silent_p.S101S|COL25A1_ENST00000399126.1_Silent_p.S101S|AC004051.2_ENST00000500526.1_lincRNA	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TATGTTCATAGGATTTCTGTA	0.403																																						ENST00000399132.1																			0				NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49						c.(301-303)tcC>tcA		collagen, type XXV, alpha 1							158.0	143.0	147.0					4																	110221803		1869	4111	5980	SO:0001819	synonymous_variant	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:110221803G>T	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.303C>A	4.37:g.110221803G>T						COL25A1_ENST00000399126.1_Silent_p.S101S|COL25A1_ENST00000399127.1_Silent_p.S101S	p.S101S	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	3	833	-		Hepatocellular(203;0.217)	101						Silent	SNP	ENST00000399132.1	37	c.303C>A	CCDS43258.1																																																																																				0.403	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		13	18	1	0	4.3838e-07	1	4.53695e-07	13	18				
IVL	3713	broad.mit.edu	37	1	152883971	152883971	+	Silent	SNP	G	G	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr1:152883971G>A	ENST00000368764.3	+	2	1762	c.1698G>A	c.(1696-1698)ttG>ttA	p.L566L	IVL_ENST00000392667.2_Silent_p.L420L			P07476	INVO_HUMAN	involucrin	566					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGAAGTATTGCTTCCTGTAG	0.572																																						ENST00000368764.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1696-1698)ttG>ttA		involucrin							70.0	71.0	71.0					1																	152883971		2203	4300	6503	SO:0001819	synonymous_variant	3713				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	g.chr1:152883971G>A	BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.1698G>A	1.37:g.152883971G>A						IVL_ENST00000392667.2_Silent_p.L420L	p.L566L			P07476	INVO_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	1762	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		566					Q5T7P4	Silent	SNP	ENST00000368764.3	37	c.1698G>A	CCDS1030.1																																																																																				0.572	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	NM_005547		10	74	0	0	0	1	0	10	74				
RASA1	5921	broad.mit.edu	37	5	86633825	86633825	+	Nonsense_Mutation	SNP	G	G	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr5:86633825G>T	ENST00000274376.6	+	5	1498	c.934G>T	c.(934-936)Gaa>Taa	p.E312*	RASA1_ENST00000512763.1_Nonsense_Mutation_p.E145*|RASA1_ENST00000456692.2_Nonsense_Mutation_p.E135*|RASA1_ENST00000506290.1_Nonsense_Mutation_p.E146*	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	312	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TGTTCATAATGAATTAGAAGA	0.274																																						ENST00000456692.2																			0				NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48						c.(403-405)Gaa>Taa		RAS p21 protein activator (GTPase activating protein) 1							104.0	108.0	107.0					5																	86633825		2203	4297	6500	SO:0001587	stop_gained	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86633825G>T		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.934G>T	5.37:g.86633825G>T	ENSP00000274376:p.Glu312*					RASA1_ENST00000512763.1_Nonsense_Mutation_p.E145*|RASA1_ENST00000506290.1_Nonsense_Mutation_p.E146*|RASA1_ENST00000274376.6_Nonsense_Mutation_p.E312*	p.E135*	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	5	518	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	312			Poly-Pro.		B2R6W3|Q9UDI1	Nonsense_Mutation	SNP	ENST00000274376.6	37	c.403G>T	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	G	45	11.322430	0.99546	.	.	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.9024	0.96993	0.0:0.0:1.0:0.0	.	.	.	.	X	312;345;135;145;146	.	ENSP00000274376:E312X	E	+	1	0	RASA1	86669581	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.782000	0.85680	2.775000	0.95449	0.650000	0.86243	GAA		0.274	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		19	43	1	0	7.07596e-05	1	7.25975e-05	19	43				
CACNA1H	8912	broad.mit.edu	37	16	1250562	1250562	+	Silent	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr16:1250562C>T	ENST00000348261.5	+	7	1358	c.1110C>T	c.(1108-1110)gcC>gcT	p.A370A	CACNA1H_ENST00000358590.4_Silent_p.A370A|CACNA1H_ENST00000565831.1_Silent_p.A370A	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	370					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CCTGGATTGCCATCTTCCAGG	0.657																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(1108-1110)gcC>gcT		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						46.0	49.0	48.0					16																	1250562		2062	4194	6256	SO:0001819	synonymous_variant	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1250562C>T	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.1110C>T	16.37:g.1250562C>T						CACNA1H_ENST00000358590.4_Silent_p.A370A|CACNA1H_ENST00000565831.1_Silent_p.A370A	p.A370A	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			7	1358	+		Hepatocellular(780;0.00369)	370					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	ENST00000348261.5	37	c.1110C>T	CCDS45375.1																																																																																				0.657	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		11	49	0	0	0	1	0	11	49				
SIX1	6495	broad.mit.edu	37	14	61115425	61115425	+	Silent	SNP	G	G	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr14:61115425G>A	ENST00000247182.6	-	1	755	c.483C>T	c.(481-483)acC>acT	p.T161T	SIX1_ENST00000554986.1_Intron	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	161					aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|branching involved in ureteric bud morphogenesis (GO:0001658)|cochlea morphogenesis (GO:0090103)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial cell differentiation (GO:0030855)|facial nerve morphogenesis (GO:0021610)|generation of neurons (GO:0048699)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesonephric tubule formation (GO:0072172)|metanephric mesenchyme development (GO:0072075)|middle ear morphogenesis (GO:0042474)|myoblast migration (GO:0051451)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|organ induction (GO:0001759)|otic vesicle development (GO:0071599)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|protein localization to nucleus (GO:0034504)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of neuron differentiation (GO:0045664)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		TGGTGAGGCCGGTGGCCTCGG	0.652																																						ENST00000247182.6																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13						c.(481-483)acC>acT		SIX homeobox 1							41.0	41.0	41.0					14																	61115425		2203	4300	6503	SO:0001819	synonymous_variant	6495				branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr14:61115425G>A	X91868	CCDS9748.1	14q23.1	2011-06-20	2007-07-13		ENSG00000126778	ENSG00000126778		"""Homeoboxes / SINE class"""	10887	protein-coding gene	gene with protein product		601205	"""sine oculis homeobox (Drosophila) homolog 1"", ""sine oculis homeobox homolog 1 (Drosophila)"", ""deafness, autosomal dominant 23"""	DFNA23		8617500, 15141091	Standard	NM_005982		Approved		uc001xfb.4	Q15475	OTTHUMG00000140334	ENST00000247182.6:c.483C>T	14.37:g.61115425G>A						SIX1_ENST00000554986.1_Intron	p.T161T	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0201)	1	755	-			161					Q53Y16|Q96H64	Silent	SNP	ENST00000247182.6	37	c.483C>T	CCDS9748.1																																																																																				0.652	SIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276951.3			34	40	0	0	0	1	0	34	40				
DNAH17	8632	broad.mit.edu	37	17	76455961	76455961	+	Silent	SNP	C	C	T	rs376694280		TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr17:76455961C>T	ENST00000585328.1	-	60	9667	c.9543G>A	c.(9541-9543)gcG>gcA	p.A3181A	DNAH17_ENST00000389840.5_Silent_p.A3172A|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3172	Stalk. {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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGATCTTGGCCGCCTTCCAGC	0.597																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(9514-9516)gcG>gcA		dynein, axonemal, heavy chain 17		C		0,4406		0,0,2203	130.0	97.0	108.0		9558	-9.8	0.0	17		108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DNAH17	NM_173628.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		3186/4463	76455961	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8632							g.chr17:76455961C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.9543G>A	17.37:g.76455961C>T						DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.A3181A	p.A3172A					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		60	9640	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.9516G>A																																																																																					0.597	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		49	35	0	0	0	1	0	49	35				
NAA35	60560	broad.mit.edu	37	9	88636841	88636841	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr9:88636841C>T	ENST00000361671.5	+	23	2277	c.2144C>T	c.(2143-2145)gCt>gTt	p.A715V		NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	715					negative regulation of apoptotic process (GO:0043066)|smooth muscle cell proliferation (GO:0048659)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						GATTTCTCTGCTCATAAATAT	0.373																																						ENST00000361671.5																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						c.(2143-2145)gCt>gTt		N(alpha)-acetyltransferase 35, NatC auxiliary subunit							100.0	96.0	98.0					9																	88636841		2203	4300	6503	SO:0001583	missense	60560				smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane		g.chr9:88636841C>T	AK025266	CCDS6673.1	9q22.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000135040	ENSG00000135040		"""N(alpha)-acetyltransferase subunits"""	24340	protein-coding gene	gene with protein product			"""MAK10 homolog, amino-acid N-acetyltransferase subunit (S. cerevisiae)"""	MAK10		14702039, 19660095	Standard	NM_024635		Approved	FLJ21613, FLJ22643, bA379P1.1	uc004aoi.4	Q5VZE5	OTTHUMG00000020131	ENST00000361671.5:c.2144C>T	9.37:g.88636841C>T	ENSP00000354972:p.Ala715Val						p.A715V	NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN			23	2277	+			715					Q5VZE6|Q9H631|Q9H703	Missense_Mutation	SNP	ENST00000361671.5	37	c.2144C>T	CCDS6673.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.540311	0.45176	.	.	ENSG00000135040	ENST00000361671	.	.	.	5.75	4.8	0.61643	.	0.165782	0.52532	N	0.000066	T	0.23806	0.0576	N	0.02539	-0.55	0.80722	D	1	B	0.17268	0.021	B	0.11329	0.006	T	0.08146	-1.0736	9	0.12766	T	0.61	-6.6337	9.4087	0.38477	0.0:0.8925:0.0:0.1075	.	715	Q5VZE5	NAA35_HUMAN	V	715	.	ENSP00000354972:A715V	A	+	2	0	NAA35	87826661	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.438000	0.66550	1.297000	0.44761	0.563000	0.77884	GCT		0.373	NAA35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052906.1	NM_024635		16	44	0	0	0	1	0	16	44				
GATA1	2623	broad.mit.edu	37	X	48651673	48651673	+	Missense_Mutation	SNP	A	A	C			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chrX:48651673A>C	ENST00000376670.3	+	5	950	c.839A>C	c.(838-840)aAt>aCt	p.N280T	GATA1_ENST00000376665.3_Missense_Mutation_p.N280T	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	280					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|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 negative regulation of transcription (GO:0001078)|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 regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						CCCGTGTGCAATGCCTGCGGC	0.602			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome																																Pancreas(9;429 505 11287 29617)	ENST00000376670.3				Dom	yes		X	Xp11.23	2623	"""Mis, F"""	GATA binding protein 1 (globin transcription factor 1)			L			megakaryoblastic leukemia of Downs Syndrome		0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						c.(838-840)aAt>aCt		GATA binding protein 1 (globin transcription factor 1)							174.0	117.0	136.0					X																	48651673		2203	4300	6503	SO:0001583	missense	2623				basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:48651673A>C	X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"""GATA zinc finger domain containing"""	4170	protein-coding gene	gene with protein product	"""nuclear factor, erythroid 1"""	305371	"""GATA-binding protein 1 (globin transcription factor 1)"""	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.839A>C	X.37:g.48651673A>C	ENSP00000365858:p.Asn280Thr					GATA1_ENST00000376665.3_Missense_Mutation_p.N280T	p.N280T	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN			5	950	+			280					Q96GB8	Missense_Mutation	SNP	ENST00000376670.3	37	c.839A>C	CCDS14305.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	17.52|17.52	3.409739|3.409739	0.62399|0.62399	.|.	.|.	ENSG00000102145|ENSG00000102145	ENST00000447551|ENST00000376670;ENST00000376665	.|D;D	.|0.99859	.|-7.24;-7.24	4.01|4.01	4.01|4.01	0.46588|0.46588	.|Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99919|0.99919	0.9962|0.9962	H|H	0.99859|0.99859	4.855|4.855	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.96382|0.96382	0.9282|0.9282	5|10	.|0.87932	.|D	.|0	-11.0689|-11.0689	10.2013|10.2013	0.43084|0.43084	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|280	.|P15976	.|GATA1_HUMAN	L|T	45|280	.|ENSP00000365858:N280T;ENSP00000365853:N280T	.|ENSP00000365853:N280T	M|N	+|+	1|2	0|0	GATA1|GATA1	48536617|48536617	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.577000|0.577000	0.36160|0.36160	8.756000|8.756000	0.91651|0.91651	1.602000|1.602000	0.50124|0.50124	0.237000|0.237000	0.17872|0.17872	ATG|AAT		0.602	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056517.1	NM_002049		27	11	0	0	0	1	0	27	11				
C17orf102	400591	broad.mit.edu	37	17	32906293	32906293	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr17:32906293C>G	ENST00000357754.1	-	1	95	c.7G>C	c.(7-9)Gat>Cat	p.D3H	TMEM132E_ENST00000321639.5_5'Flank	NM_207454.2	NP_997337.2	A2RUQ5	CQ102_HUMAN	chromosome 17 open reading frame 102	3										central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						AAGGAAAAATCAAACATAAAA	0.642																																						ENST00000357754.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						c.(7-9)Gat>Cat		chromosome 17 open reading frame 102							7.0	9.0	8.0					17																	32906293		1796	4028	5824	SO:0001583	missense	400591							g.chr17:32906293C>G		CCDS42297.1	17q12	2009-02-11			ENSG00000197322	ENSG00000197322			34412	protein-coding gene	gene with protein product							Standard	NM_207454		Approved	FLJ44815	uc002hie.1	A2RUQ5	OTTHUMG00000156883	ENST00000357754.1:c.7G>C	17.37:g.32906293C>G	ENSP00000350392:p.Asp3His						p.D3H	NM_207454.2	NP_997337.2	A2RUQ5	CQ102_HUMAN			1	95	-			3					A5PKX0|Q6ZTB3	Missense_Mutation	SNP	ENST00000357754.1	37	c.7G>C	CCDS42297.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.757691	0.31137	.	.	ENSG00000197322	ENST00000357754	T	0.41400	1.0	3.44	-4.55	0.03441	.	3.870630	0.01028	U	0.004087	T	0.20373	0.0490	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.17319	-1.0373	10	0.87932	D	0	.	1.0801	0.01641	0.2467:0.1591:0.1154:0.4788	.	3	A2RUQ5	CQ102_HUMAN	H	3	ENSP00000350392:D3H	ENSP00000350392:D3H	D	-	1	0	C17orf102	29930406	0.000000	0.05858	0.235000	0.24058	0.148000	0.21650	-0.507000	0.06352	-0.662000	0.05338	-0.555000	0.04198	GAT		0.642	C17orf102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346435.1	NM_207454		5	8	0	0	0	1	0	5	8				
DCTN2	10540	broad.mit.edu	37	12	57939816	57939816	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr12:57939816C>T	ENST00000548249.1	-	2	367	c.100G>A	c.(100-102)Gat>Aat	p.D34N	DCTN2_ENST00000543672.1_Missense_Mutation_p.D34N|DCTN2_ENST00000434715.3_Missense_Mutation_p.D34N	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	34					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|vesicle (GO:0031982)	motor activity (GO:0003774)|spectrin binding (GO:0030507)			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						CTTACCGCATCGAACTCCGCT	0.542																																						ENST00000548249.1																			0				endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						c.(100-102)Gat>Aat		dynactin 2 (p50)							144.0	146.0	145.0					12																	57939816		2112	4229	6341	SO:0001583	missense	10540				cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding	g.chr12:57939816C>T	U50733	CCDS44930.1, CCDS58245.1, CCDS73489.1	12q13.3	2008-05-14				ENSG00000175203			2712	protein-coding gene	gene with protein product		607376				8647893	Standard	NM_001261412		Approved	RBP50, DCTN-50	uc001som.2	Q13561	OTTHUMG00000170124	ENST00000548249.1:c.100G>A	12.37:g.57939816C>T	ENSP00000447824:p.Asp34Asn					DCTN2_ENST00000543672.1_Missense_Mutation_p.D34N|DCTN2_ENST00000434715.3_Missense_Mutation_p.D34N	p.D34N	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN			2	367	-			34					B2RBK5|Q86YN2|Q9BW17	Missense_Mutation	SNP	ENST00000548249.1	37	c.100G>A	CCDS58245.1	.	.	.	.	.	.	.	.	.	.	C	35	5.573031	0.96553	.	.	ENSG00000175203	ENST00000548249;ENST00000434715;ENST00000543672;ENST00000354743;ENST00000550954;ENST00000546670	.	.	.	5.38	5.38	0.77491	.	0.050774	0.85682	D	0.000000	T	0.59142	0.2172	L	0.50333	1.59	0.80722	D	1	P;P;D	0.53151	0.948;0.948;0.958	B;B;P	0.46940	0.397;0.397;0.532	T	0.56360	-0.7992	9	0.30854	T	0.27	-5.8297	18.2852	0.90112	0.0:1.0:0.0:0.0	.	34;34;34	F8WAG8;F5H2S7;Q13561	.;.;DCTN2_HUMAN	N	34	.	ENSP00000346785:D34N	D	-	1	0	DCTN2	56226083	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.584000	0.74057	2.688000	0.91661	0.655000	0.94253	GAT		0.542	DCTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407393.2	NM_006400		5	106	0	0	0	1	0	5	106				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		4	77	0	0	0	1	0	4	77				
MAST1	22983	broad.mit.edu	37	19	12978453	12978453	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr19:12978453G>A	ENST00000251472.4	+	19	2344	c.2305G>A	c.(2305-2307)Ggc>Agc	p.G769S		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CTGGAGAGGGGGCTCTCCGGA	0.682																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(2305-2307)Ggc>Agc		microtubule associated serine/threonine kinase 1							10.0	13.0	12.0					19																	12978453		2186	4273	6459	SO:0001583	missense	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12978453G>A	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.2305G>A	19.37:g.12978453G>A	ENSP00000251472:p.Gly769Ser						p.G769S	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			19	2344	+			769						Missense_Mutation	SNP	ENST00000251472.4	37	c.2305G>A	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	G	34	5.383226	0.95967	.	.	ENSG00000105613	ENST00000251472	T	0.64991	-0.13	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.53126	0.1777	N	0.21508	0.67	0.58432	D	0.999999	P	0.41498	0.752	P	0.45794	0.493	T	0.46541	-0.9184	10	0.14656	T	0.56	-34.814	15.8096	0.78547	0.0:0.0:1.0:0.0	.	769	Q9Y2H9	MAST1_HUMAN	S	769	ENSP00000251472:G769S	ENSP00000251472:G769S	G	+	1	0	MAST1	12839453	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.957000	0.56730	2.409000	0.81822	0.561000	0.74099	GGC		0.682	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		9	8	0	0	0	1	0	9	8				
BRCA2	675	broad.mit.edu	37	13	32945187	32945187	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr13:32945187G>C	ENST00000380152.3	+	20	8815	c.8582G>C	c.(8581-8583)aGa>aCa	p.R2861T	BRCA2_ENST00000544455.1_Missense_Mutation_p.R2861T			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2861					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CAACAAAAGAGACTAGAAGCC	0.343			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(8581-8583)aGa>aCa	Homologous recombination	breast cancer 2, early onset							93.0	97.0	96.0					13																	32945187		2203	4300	6503	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32945187G>C	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.8582G>C	13.37:g.32945187G>C	ENSP00000369497:p.Arg2861Thr	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.R2861T	p.R2861T	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	20	8809	+		Lung SC(185;0.0262)	2861					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.8582G>C	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.373321	0.42105	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.56444	0.46;0.46	5.28	4.03	0.46877	Nucleic acid-binding, OB-fold-like (1);Tower (1);	0.186113	0.47852	D	0.000211	T	0.29190	0.0726	N	0.08118	0	0.23401	N	0.997754	B	0.18610	0.029	B	0.18871	0.023	T	0.15838	-1.0423	10	0.48119	T	0.1	.	6.3529	0.21385	0.7531:0.1528:0.0941:0.0	.	2861	P51587	BRCA2_HUMAN	T	2861	ENSP00000369497:R2861T;ENSP00000439902:R2861T	ENSP00000369497:R2861T	R	+	2	0	BRCA2	31843187	0.859000	0.29813	0.995000	0.50966	0.992000	0.81027	1.753000	0.38359	0.744000	0.32741	0.484000	0.47621	AGA		0.343	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		18	59	0	0	0	1	0	18	59				
HIST1H1B	3009	broad.mit.edu	37	6	27834714	27834714	+	Silent	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr6:27834714C>T	ENST00000331442.3	-	1	645	c.594G>A	c.(592-594)ccG>ccA	p.P198P		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	198					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)	p.P198P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						TTGCCGCCTTCGGCTTAACTG	0.557																																						ENST00000331442.3																			1	Substitution - coding silent(1)	p.P198P(1)	upper_aerodigestive_tract(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						c.(592-594)ccG>ccA		histone cluster 1, H1b							71.0	68.0	69.0					6																	27834714		2203	4300	6503	SO:0001819	synonymous_variant	3009				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27834714C>T	AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"""Histones / Replication-dependent"""	4719	protein-coding gene	gene with protein product		142711	"""H1 histone family, member 5"", ""histone 1, H1b"""	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.594G>A	6.37:g.27834714C>T							p.P198P	NM_005322.2	NP_005313.1	P16401	H15_HUMAN			1	645	-			198					Q14529|Q3MJ42	Silent	SNP	ENST00000331442.3	37	c.594G>A	CCDS4635.1																																																																																				0.557	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043371.1	NM_005322		25	45	0	0	0	1	0	25	45				
DNAH12	201625	broad.mit.edu	37	3	57493504	57493504	+	Missense_Mutation	SNP	C	C	T	rs373483492		TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr3:57493504C>T	ENST00000351747.2	-	8	943	c.763G>A	c.(763-765)Gca>Aca	p.A255T	DNAH12_ENST00000389536.4_Missense_Mutation_p.A255T|DNAH12_ENST00000311202.6_Missense_Mutation_p.A255T	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	255	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TTCTCTTCTGCGTTTCTAGTT	0.333																																						ENST00000351747.2																			0				breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						c.(763-765)Gca>Aca		dynein, axonemal, heavy chain 12							162.0	152.0	156.0					3																	57493504		2203	4300	6503	SO:0001583	missense	201625				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:57493504C>T	U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.763G>A	3.37:g.57493504C>T	ENSP00000295937:p.Ala255Thr					DNAH12_ENST00000389536.4_Missense_Mutation_p.A255T|DNAH12_ENST00000311202.6_Missense_Mutation_p.A255T	p.A255T	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN			8	943	-			255			Stem (By similarity).		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	ENST00000351747.2	37	c.763G>A		.	.	.	.	.	.	.	.	.	.	C	13.89	2.371945	0.42003	.	.	ENSG00000174844	ENST00000351747;ENST00000495027;ENST00000389536;ENST00000311202	T;T;T;T	0.22743	2.1;1.94;3.5;2.93	5.45	0.859	0.19036	.	0.613258	0.14378	N	0.323308	T	0.09247	0.0228	N	0.16790	0.44	0.80722	D	1	B;B	0.23490	0.086;0.002	B;B	0.14578	0.011;0.001	T	0.24584	-1.0156	10	0.10902	T	0.67	.	5.323	0.15891	0.2639:0.5136:0.0:0.2224	.	255;255	Q6ZR08-4;Q6ZR08	.;DYH12_HUMAN	T	255	ENSP00000295937:A255T;ENSP00000418137:A255T;ENSP00000374187:A255T;ENSP00000312554:A255T	ENSP00000312554:A255T	A	-	1	0	DNAH12	57468544	0.960000	0.32886	0.891000	0.34965	0.987000	0.75469	0.123000	0.15708	0.224000	0.20940	0.655000	0.94253	GCA		0.333	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504		26	64	0	0	0	1	0	26	64				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			440993							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	109	0	0	0	1	0	4	109				
USP47	55031	broad.mit.edu	37	11	11926970	11926970	+	Nonsense_Mutation	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr11:11926970C>T	ENST00000399455.2	+	9	1024	c.904C>T	c.(904-906)Caa>Taa	p.Q302*	USP47_ENST00000527733.1_Nonsense_Mutation_p.Q282*|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000339865.5_Nonsense_Mutation_p.Q214*	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	302	USP.				base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TGAGCTATATCAAGGCAAGCT	0.343																																						ENST00000339865.5																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(640-642)Caa>Taa		ubiquitin specific peptidase 47							106.0	105.0	106.0					11																	11926970		1960	4154	6114	SO:0001587	stop_gained	55031				base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding	g.chr11:11926970C>T	AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.904C>T	11.37:g.11926970C>T	ENSP00000382382:p.Gln302*					USP47_ENST00000539466.1_5'UTR|USP47_ENST00000399455.2_Nonsense_Mutation_p.Q302*|USP47_ENST00000527733.1_Nonsense_Mutation_p.Q282*	p.Q214*	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN		Epithelial(150;0.000339)	7	1403	+			302					B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Nonsense_Mutation	SNP	ENST00000399455.2	37	c.640C>T		.	.	.	.	.	.	.	.	.	.	C	38	6.919552	0.97936	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000399455;ENST00000535588	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	19.4924	0.95056	0.0:1.0:0.0:0.0	.	.	.	.	X	214;282;302;302	.	ENSP00000339957:Q214X	Q	+	1	0	USP47	11883546	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.818000	0.86416	2.710000	0.92621	0.650000	0.86243	CAA		0.343	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2	NM_017944		17	18	0	0	0	1	0	17	18				
POT1	25913	broad.mit.edu	37	7	124469392	124469392	+	Missense_Mutation	SNP	T	T	C			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr7:124469392T>C	ENST00000357628.3	-	16	2108	c.1510A>G	c.(1510-1512)Aaa>Gaa	p.K504E	POT1_ENST00000393329.1_Missense_Mutation_p.K373E	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	504					DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						GAACACTGTTTACATCTGAAA	0.284																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)	ENST00000357628.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(1510-1512)Aaa>Gaa		protection of telomeres 1							62.0	65.0	64.0					7																	124469392		2203	4299	6502	SO:0001583	missense	25913				DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	g.chr7:124469392T>C	AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"""protection of telomeres 1 homolog (S. pombe)"""			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.1510A>G	7.37:g.124469392T>C	ENSP00000350249:p.Lys504Glu					POT1_ENST00000393329.1_Missense_Mutation_p.K373E	p.K504E	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN			16	2108	-			504					O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP	ENST00000357628.3	37	c.1510A>G	CCDS5793.1	.	.	.	.	.	.	.	.	.	.	T	12.42	1.933875	0.34096	.	.	ENSG00000128513	ENST00000357628;ENST00000393329;ENST00000265391	T;T	0.51071	0.72;0.76	5.25	4.06	0.47325	.	0.261736	0.42964	D	0.000621	T	0.46983	0.1421	M	0.74881	2.28	0.39556	D	0.969052	P	0.44429	0.835	B	0.38500	0.275	T	0.55528	-0.8127	10	0.72032	D	0.01	-17.841	11.1688	0.48558	0.0:0.0:0.1544:0.8456	.	504	Q9NUX5	POTE1_HUMAN	E	504;373;503	ENSP00000350249:K504E;ENSP00000377002:K373E	ENSP00000265391:K503E	K	-	1	0	POT1	124256628	1.000000	0.71417	0.994000	0.49952	0.196000	0.23810	2.304000	0.43655	0.963000	0.38082	0.477000	0.44152	AAA		0.284	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1			21	45	0	0	0	1	0	21	45				
LYZL1	84569	broad.mit.edu	37	10	29599113	29599113	+	Missense_Mutation	SNP	T	T	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr10:29599113T>A	ENST00000375500.3	+	4	568	c.511T>A	c.(511-513)Tat>Aat	p.Y171N		NM_032517.4	NP_115906.3	Q6UWQ5	LYZL1_HUMAN	lysozyme-like 1	125					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11		Breast(68;0.203)				AGGAATGAACTATTGGTAAGA	0.418																																						ENST00000375500.3																			0				central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11						c.(511-513)Tat>Aat		lysozyme-like 1							138.0	126.0	130.0					10																	29599113		2203	4300	6503	SO:0001583	missense	84569				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr10:29599113T>A		CCDS31174.1	10p12.1	2004-08-02			ENSG00000120563	ENSG00000120563	3.2.1.1		30502	protein-coding gene	gene with protein product						12477932	Standard	XM_005252627		Approved	MGC33408, LYC2	uc001iul.3	Q6UWQ5	OTTHUMG00000017880	ENST00000375500.3:c.511T>A	10.37:g.29599113T>A	ENSP00000364650:p.Tyr171Asn						p.Y171N	NM_032517.4	NP_115906.3	Q6UWQ5	LYZL1_HUMAN			4	568	+		Breast(68;0.203)	125					Q5T921|Q8WW16	Missense_Mutation	SNP	ENST00000375500.3	37	c.511T>A	CCDS31174.1	.	.	.	.	.	.	.	.	.	.	T	15.72	2.916438	0.52546	.	.	ENSG00000120563	ENST00000375500	T	0.74209	-0.82	4.63	4.63	0.57726	.	0.179509	0.36002	N	0.002841	T	0.65375	0.2685	L	0.43923	1.385	0.41841	D	0.990129	B	0.27416	0.178	B	0.26517	0.07	T	0.64550	-0.6381	10	0.39692	T	0.17	-31.774	10.9905	0.47547	0.0:0.0:0.0:1.0	.	171	Q6UWQ5-2	.	N	171	ENSP00000364650:Y171N	ENSP00000364650:Y171N	Y	+	1	0	LYZL1	29639119	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	2.128000	0.42045	2.025000	0.59659	0.533000	0.62120	TAT		0.418	LYZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047381.1	NM_032517		19	70	0	0	0	1	0	19	70				
CCDC142	84865	broad.mit.edu	37	2	74708183	74708183	+	Missense_Mutation	SNP	G	G	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr2:74708183G>T	ENST00000393965.3	-	4	1685	c.1289C>A	c.(1288-1290)aCc>aAc	p.T430N	CCDC142_ENST00000471713.1_5'UTR|TTC31_ENST00000442235.2_5'Flank|CCDC142_ENST00000290418.4_Missense_Mutation_p.T423N|TTC31_ENST00000410003.1_5'Flank|TTC31_ENST00000233623.5_5'Flank	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	430										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						GGTCTGAAGGGTACAGAGACC	0.547																																						ENST00000393965.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						c.(1288-1290)aCc>aAc		coiled-coil domain containing 142							55.0	55.0	55.0					2																	74708183		2203	4300	6503	SO:0001583	missense	84865							g.chr2:74708183G>T	AK075543	CCDS1945.1	2p13.1	2008-02-05			ENSG00000135637	ENSG00000135637			25889	protein-coding gene	gene with protein product							Standard	NM_032779		Approved	FLJ14397	uc002slq.3	Q17RM4	OTTHUMG00000129962	ENST00000393965.3:c.1289C>A	2.37:g.74708183G>T	ENSP00000377537:p.Thr430Asn					CCDC142_ENST00000290418.4_Missense_Mutation_p.T423N|CCDC142_ENST00000471713.1_5'UTR	p.T430N	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN			4	1685	-			430					B7ZKV5|Q8NBJ3|Q8NBV2|Q96KA7	Missense_Mutation	SNP	ENST00000393965.3	37	c.1289C>A		.	.	.	.	.	.	.	.	.	.	G	12.59	1.985095	0.35036	.	.	ENSG00000135637	ENST00000393965;ENST00000290418	T;T	0.54071	0.59;0.59	4.4	3.52	0.40303	.	0.000000	0.56097	D	0.000029	T	0.68165	0.2971	M	0.73598	2.24	0.35879	D	0.828814	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.75263	-0.3379	10	0.72032	D	0.01	-7.5834	8.4981	0.33141	0.1069:0.0:0.8931:0.0	.	430;423;430	Q17RM4;Q17RM4-2;Q17RM4-3	CC142_HUMAN;.;.	N	430;423	ENSP00000377537:T430N;ENSP00000290418:T423N	ENSP00000290418:T423N	T	-	2	0	CCDC142	74561691	1.000000	0.71417	0.998000	0.56505	0.171000	0.22731	3.199000	0.51043	1.050000	0.40346	0.655000	0.94253	ACC		0.547	CCDC142-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000328391.1	NM_032779		20	58	1	0	1.96292e-10	1	2.10503e-10	20	58				
THAP2	83591	broad.mit.edu	37	12	72068119	72068119	+	Nonsense_Mutation	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr12:72068119C>T	ENST00000308086.2	+	2	1709	c.208C>T	c.(208-210)Cga>Tga	p.R70*	RP11-293I14.2_ENST00000548802.1_Nonsense_Mutation_p.R46*	NM_031435.3	NP_113623.1	Q9H0W7	THAP2_HUMAN	THAP domain containing, apoptosis associated protein 2	70						nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	10						ACAAACTCGACGACTTAAAAT	0.373																																						ENST00000308086.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	10						c.(208-210)Cga>Tga		THAP domain containing, apoptosis associated protein 2							124.0	123.0	123.0					12																	72068119		2203	4300	6503	SO:0001587	stop_gained	83591					nucleolus	DNA binding|metal ion binding	g.chr12:72068119C>T	BC008358	CCDS9001.1	12q21.1	2013-01-25				ENSG00000173451		"""THAP (C2CH-type zinc finger) domain containing"""	20854	protein-coding gene	gene with protein product		612531				12575992	Standard	NM_031435		Approved	DKFZP564I0422	uc001swq.3	Q9H0W7	OTTHUMG00000169556	ENST00000308086.2:c.208C>T	12.37:g.72068119C>T	ENSP00000310796:p.Arg70*					RP11-293I14.2_ENST00000548802.1_Nonsense_Mutation_p.R46*	p.R70*	NM_031435.3	NP_113623.1	Q9H0W7	THAP2_HUMAN			2	1709	+			70					B2R8P3	Nonsense_Mutation	SNP	ENST00000308086.2	37	c.208C>T	CCDS9001.1	.	.	.	.	.	.	.	.	.	.	C	49	15.677900	0.99841	.	.	ENSG00000173451	ENST00000308086	.	.	.	6.08	2.81	0.32909	.	0.000000	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	11.3421	0.49539	0.2321:0.6952:0.0:0.0727	.	.	.	.	X	70	.	ENSP00000310796:R70X	R	+	1	2	THAP2	70354386	0.997000	0.39634	1.000000	0.80357	0.987000	0.75469	0.225000	0.17757	0.441000	0.26529	-0.808000	0.03180	CGA		0.373	THAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404796.1	NM_031435		4	159	0	0	0	1	0	4	159				
NRG3	10718	broad.mit.edu	37	10	83635667	83635667	+	Missense_Mutation	SNP	G	G	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr10:83635667G>T	ENST00000404547.1	+	1	571	c.571G>T	c.(571-573)Gcg>Tcg	p.A191S	NRG3_ENST00000372141.2_Missense_Mutation_p.A191S|NRG3_ENST00000404576.2_5'Flank|NRG3_ENST00000372142.2_5'Flank|NRG3_ENST00000556918.1_5'Flank			P56975	NRG3_HUMAN	neuregulin 3	191	Ser/Thr-rich.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TGCGGCCCCTGCGACGGTCCC	0.716																																						ENST00000404547.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(571-573)Gcg>Tcg		neuregulin 3							38.0	43.0	41.0					10																	83635667		2202	4300	6502	SO:0001583	missense	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:83635667G>T	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.571G>T	10.37:g.83635667G>T	ENSP00000384796:p.Ala191Ser					NRG3_ENST00000372141.2_Missense_Mutation_p.A191S	p.A191S			P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	1	571	+			191			Ser/Thr-rich.		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	c.571G>T	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	G	0.204	-1.041875	0.01997	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287	T;T	0.30448	1.53;1.53	3.41	-3.75	0.04372	.	1.045700	0.07666	N	0.934647	T	0.11367	0.0277	N	0.08118	0	0.58432	D	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43130	-0.9410	10	0.06757	T	0.87	-20.5105	6.1428	0.20269	0.0:0.4518:0.1245:0.4237	.	191;191	B9EGV5;P56975-4	.;.	S	191	ENSP00000361214:A191S;ENSP00000384796:A191S	ENSP00000361214:A191S	A	+	1	0	NRG3	83625647	0.529000	0.26322	0.337000	0.25536	0.163000	0.22366	-0.006000	0.12833	-1.195000	0.02680	-3.103000	0.00063	GCG		0.716	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		14	62	1	0	1.15088e-07	1	1.20158e-07	14	62				
CASR	846	broad.mit.edu	37	3	121980461	121980461	+	Silent	SNP	G	G	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr3:121980461G>A	ENST00000490131.1	+	4	951	c.579G>A	c.(577-579)caG>caA	p.Q193Q	CASR_ENST00000296154.5_Silent_p.Q193Q|CASR_ENST00000498619.1_Silent_p.Q193Q	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	193					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	ATGAGCACCAGGCCACTGCCA	0.527																																						ENST00000498619.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(577-579)caG>caA		calcium-sensing receptor	Cinacalcet(DB01012)						125.0	131.0	129.0					3																	121980461		2203	4300	6503	SO:0001819	synonymous_variant	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:121980461G>A	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.579G>A	3.37:g.121980461G>A						CASR_ENST00000296154.5_Silent_p.Q193Q|CASR_ENST00000490131.1_Silent_p.Q193Q	p.Q193Q	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	4	1017	+			193					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	ENST00000490131.1	37	c.579G>A	CCDS3010.1																																																																																				0.527	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		38	123	0	0	0	1	0	38	123				
SLC11A2	4891	broad.mit.edu	37	12	51382111	51382111	+	Intron	SNP	T	T	C			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr12:51382111T>C	ENST00000262051.7	-	16	1717				SLC11A2_ENST00000262052.5_Silent_p.K561K|SLC11A2_ENST00000541174.2_Silent_p.K561K|SLC11A2_ENST00000547198.1_Intron|SLC11A2_ENST00000547688.1_Silent_p.K590K|SLC11A2_ENST00000394904.3_Silent_p.K590K|SLC11A2_ENST00000546743.1_Silent_p.K482K|SLC11A2_ENST00000545993.2_Silent_p.K557K	NM_001174126.1|NM_001174127.1	NP_001167597.1|NP_001167598.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cadmium ion transmembrane transport (GO:0070574)|cation transmembrane transport (GO:0098655)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to iron ion (GO:0071281)|cellular response to oxidative stress (GO:0034599)|cellular response to tumor necrosis factor (GO:0071356)|cobalt ion transport (GO:0006824)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detection of oxygen (GO:0003032)|erythrocyte development (GO:0048821)|ferrous iron import (GO:0070627)|ferrous iron transport (GO:0015684)|heme biosynthetic process (GO:0006783)|lead ion transport (GO:0015692)|learning or memory (GO:0007611)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organismal iron ion homeostasis (GO:0060586)|nickel cation transmembrane transport (GO:0035444)|nickel cation transport (GO:0015675)|response to cadmium ion (GO:0046686)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to manganese ion (GO:0010042)|transmembrane transport (GO:0055085)|vanadium ion transport (GO:0015676)|zinc ion transmembrane transport (GO:0071577)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|brush border (GO:0005903)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|paraferritin complex (GO:0070826)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	cadmium ion binding (GO:0046870)|cadmium ion transmembrane transporter activity (GO:0015086)|cobalt ion binding (GO:0050897)|cobalt ion transmembrane transporter activity (GO:0015087)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|ferrous iron transmembrane transporter activity (GO:0015093)|hydrogen ion transmembrane transporter activity (GO:0015078)|inorganic cation transmembrane transporter activity (GO:0022890)|iron ion binding (GO:0005506)|lead ion transmembrane transporter activity (GO:0015094)|manganese ion binding (GO:0030145)|manganese ion transmembrane transporter activity (GO:0005384)|nickel cation binding (GO:0016151)|nickel cation transmembrane transporter activity (GO:0015099)|solute:proton symporter activity (GO:0015295)|vanadium ion transmembrane transporter activity (GO:0015100)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						TCCAGTGTTATTTAACGTAGC	0.478																																						ENST00000394904.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						c.(1768-1770)aaA>aaG		solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2							123.0	101.0	108.0					12																	51382111		2203	4300	6503	SO:0001627	intron_variant	4891				activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity	g.chr12:51382111T>C	AB015355	CCDS8805.1, CCDS53791.1, CCDS53792.1, CCDS53793.1	12q13	2013-07-18	2013-07-18		ENSG00000110911	ENSG00000110911		"""Solute carriers"""	10908	protein-coding gene	gene with protein product		600523		NRAMP2		7613023	Standard	NM_000617		Approved	DCT1, DMT1	uc001rxk.2	P49281	OTTHUMG00000169493	ENST00000262051.7:c.1629+53A>G	12.37:g.51382111T>C						SLC11A2_ENST00000547688.1_Silent_p.K590K|SLC11A2_ENST00000547198.1_Intron|SLC11A2_ENST00000545993.2_Silent_p.K557K|SLC11A2_ENST00000541174.2_Silent_p.K561K|SLC11A2_ENST00000262052.5_Silent_p.K561K|SLC11A2_ENST00000262051.7_Intron|SLC11A2_ENST00000546743.1_Silent_p.K482K	p.K590K	NM_001174125.1	NP_001167596.1	P49281	NRAM2_HUMAN			16	1819	-			0					B3KT08|B4DK84|F5H741|O43288|O60932|O94801|Q498Z5|Q8IUD7|Q96J35	Silent	SNP	ENST00000262051.7	37	c.1770A>G	CCDS53792.1																																																																																				0.478	SLC11A2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404383.1			27	45	0	0	0	1	0	27	45				
USP28	57646	broad.mit.edu	37	11	113683157	113683157	+	Missense_Mutation	SNP	T	T	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr11:113683157T>A	ENST00000003302.4	-	16	1881	c.1813A>T	c.(1813-1815)Atc>Ttc	p.I605F	USP28_ENST00000260188.5_Missense_Mutation_p.I605F|USP28_ENST00000545540.1_Missense_Mutation_p.I480F|USP28_ENST00000544967.1_Missense_Mutation_p.I313F	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	605	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TGATTATAGATATAGGCCCAA	0.453																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1813-1815)Atc>Ttc		ubiquitin specific peptidase 28							141.0	145.0	144.0					11																	113683157		2201	4296	6497	SO:0001583	missense	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113683157T>A	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.1813A>T	11.37:g.113683157T>A	ENSP00000003302:p.Ile605Phe					USP28_ENST00000545540.1_Missense_Mutation_p.I480F|USP28_ENST00000544967.1_Missense_Mutation_p.I313F|USP28_ENST00000260188.5_Missense_Mutation_p.I605F	p.I605F	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	16	1881	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	605					B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	c.1813A>T	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.349459	0.82132	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540;ENST00000538475	T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34	5.43	3.12	0.35913	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.047829	0.85682	D	0.000000	T	0.65606	0.2707	M	0.92169	3.28	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.934	D;D;P	0.91635	0.997;0.999;0.682	T	0.69624	-0.5095	10	0.87932	D	0	-8.4324	10.5738	0.45214	0.0:0.1044:0.0:0.8956	.	480;605;313	B4E3L3;Q96RU2;G3V1N5	.;UBP28_HUMAN;.	F	605;605;313;480;309	ENSP00000003302:I605F;ENSP00000260188:I605F;ENSP00000442431:I313F;ENSP00000444991:I480F;ENSP00000442257:I309F	ENSP00000003302:I605F	I	-	1	0	USP28	113188367	1.000000	0.71417	0.901000	0.35422	0.974000	0.67602	2.694000	0.47035	0.376000	0.24707	0.533000	0.62120	ATC		0.453	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			47	32	0	0	0	1	0	47	32				
SRCAP	10847	broad.mit.edu	37	16	30721046	30721046	+	Silent	SNP	G	G	C			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr16:30721046G>C	ENST00000262518.4	+	7	1231	c.846G>C	c.(844-846)ctG>ctC	p.L282L	SRCAP_ENST00000344771.4_Silent_p.L282L|SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000395059.2_Silent_p.L282L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	282					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTTCTCGCCTGGATGATGAAG	0.567																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(844-846)ctG>ctC		Snf2-related CREBBP activator protein							71.0	63.0	66.0					16																	30721046		2197	4300	6497	SO:0001819	synonymous_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30721046G>C	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.846G>C	16.37:g.30721046G>C						SRCAP_ENST00000344771.4_Silent_p.L282L|SRCAP_ENST00000395059.2_Silent_p.L282L	p.L282L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		7	1231	+			282					B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	c.846G>C	CCDS10689.2																																																																																				0.567	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		30	43	0	0	0	1	0	30	43				
DUS1L	64118	broad.mit.edu	37	17	80019564	80019564	+	Silent	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr17:80019564C>T	ENST00000354321.7	-	6	1112	c.627G>A	c.(625-627)ggG>ggA	p.G209G	DUS1L_ENST00000306796.5_Silent_p.G209G			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	209							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			ACTGGATGTTCCCGTTAGCAA	0.657																																						ENST00000354321.7																			0				breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6						c.(625-627)ggG>ggA		dihydrouridine synthase 1-like (S. cerevisiae)							96.0	91.0	93.0					17																	80019564		2203	4300	6503	SO:0001819	synonymous_variant	64118				tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr17:80019564C>T		CCDS32775.1	17q25.3	2005-08-09				ENSG00000169718			30086	protein-coding gene	gene with protein product						12477932	Standard	NM_022156		Approved	PP3111, DUS1	uc002kdr.4	Q6P1R4		ENST00000354321.7:c.627G>A	17.37:g.80019564C>T						DUS1L_ENST00000306796.5_Silent_p.G209G	p.G209G			Q6P1R4	DUS1L_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		6	1112	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		209					A6NHV4|Q96AI3	Silent	SNP	ENST00000354321.7	37	c.627G>A	CCDS32775.1																																																																																				0.657	DUS1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442347.1	NM_022156		14	54	0	0	0	1	0	14	54				
RPTN	126638	broad.mit.edu	37	1	152128196	152128196	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr1:152128196C>T	ENST00000316073.3	-	3	1443	c.1379G>A	c.(1378-1380)aGt>aAt	p.S460N		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	460	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ATAGTGGGAACTCTGGCCTTG	0.512																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1378-1380)aGt>aAt		repetin							780.0	691.0	719.0					1																	152128196		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128196C>T	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1379G>A	1.37:g.152128196C>T	ENSP00000317895:p.Ser460Asn						p.S460N	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1443	-			460			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.1379G>A	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.510364	0.27036	.	.	ENSG00000215853	ENST00000316073;ENST00000541545	T	0.12569	2.67	5.32	-2.06	0.07298	.	.	.	.	.	T	0.06371	0.0164	M	0.83012	2.62	0.09310	N	1	P	0.50443	0.935	P	0.45377	0.478	T	0.20773	-1.0265	9	0.21540	T	0.41	-0.0256	2.0282	0.03523	0.1265:0.3555:0.1247:0.3933	.	460	Q6XPR3	RPTN_HUMAN	N	460;115	ENSP00000317895:S460N	ENSP00000317895:S460N	S	-	2	0	RPTN	150394820	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.837000	0.04377	-0.250000	0.09555	-0.447000	0.05616	AGT		0.512	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		190	440	0	0	0	1	0	190	440				
TNIP1	10318	broad.mit.edu	37	5	150436497	150436497	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr5:150436497C>T	ENST00000389378.2	-	6	1045	c.457G>A	c.(457-459)Gag>Aag	p.E153K	TNIP1_ENST00000523200.1_Missense_Mutation_p.E153K|TNIP1_ENST00000522226.1_Missense_Mutation_p.E153K|TNIP1_ENST00000524280.1_Missense_Mutation_p.E153K|TNIP1_ENST00000520931.1_Missense_Mutation_p.E100K|TNIP1_ENST00000523338.1_Missense_Mutation_p.E153K|TNIP1_ENST00000518977.1_Missense_Mutation_p.E153K|TNIP1_ENST00000521591.1_Missense_Mutation_p.E153K|TNIP1_ENST00000315050.7_Missense_Mutation_p.E153K	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	153	Interacts with Nef.				defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGCCGTCCTCACGGGGCAGG	0.682																																						ENST00000389378.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23						c.(457-459)Gag>Aag		TNFAIP3 interacting protein 1							23.0	25.0	24.0					5																	150436497		2203	4297	6500	SO:0001583	missense	10318				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding	g.chr5:150436497C>T	AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"""virion-associated nuclear-shuttling protein"", ""Nef-associated factor 1 SNP"""	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025		ENST00000389378.2:c.457G>A	5.37:g.150436497C>T	ENSP00000374029:p.Glu153Lys					TNIP1_ENST00000521591.1_Missense_Mutation_p.E153K|TNIP1_ENST00000524280.1_Missense_Mutation_p.E153K|TNIP1_ENST00000522226.1_Missense_Mutation_p.E153K|TNIP1_ENST00000518977.1_Missense_Mutation_p.E153K|TNIP1_ENST00000520931.1_Missense_Mutation_p.E100K|TNIP1_ENST00000523200.1_Missense_Mutation_p.E153K|TNIP1_ENST00000315050.7_Missense_Mutation_p.E153K|TNIP1_ENST00000523338.1_Missense_Mutation_p.E153K	p.E153K	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	1045	-		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	153			Interacts with Nef.		A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Missense_Mutation	SNP	ENST00000389378.2	37	c.457G>A	CCDS34280.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125800	0.77436	.	.	ENSG00000145901	ENST00000520931;ENST00000389378;ENST00000315050;ENST00000523338;ENST00000544828;ENST00000417127;ENST00000539213;ENST00000522226;ENST00000521591;ENST00000518977;ENST00000524280;ENST00000523200;ENST00000545840;ENST00000522100	T;T;T;T;T;T;T;T;T;T	0.25414	1.98;2.06;2.06;2.06;2.06;2.06;2.06;2.11;2.11;1.8	5.03	4.16	0.48862	.	0.052153	0.85682	N	0.000000	T	0.49133	0.1539	M	0.77103	2.36	0.53005	D	0.999962	P;D;P;D;D;D;D	0.61697	0.787;0.959;0.868;0.959;0.959;0.99;0.99	P;P;P;P;P;D;D	0.64144	0.521;0.773;0.521;0.773;0.789;0.922;0.922	T	0.55661	-0.8106	10	0.87932	D	0	-17.8083	13.5644	0.61807	0.0:0.9243:0.0:0.0757	.	153;107;107;153;153;153;153	B7Z8K2;A4F1X9;A4F1X7;E7EPY1;E7ET96;A4F1W9;Q15025	.;.;.;.;.;.;TNIP1_HUMAN	K	100;153;153;153;110;110;115;153;153;153;153;153;110;100	ENSP00000429891:E100K;ENSP00000374029:E153K;ENSP00000317891:E153K;ENSP00000428243:E153K;ENSP00000428187:E153K;ENSP00000430760:E153K;ENSP00000430971:E153K;ENSP00000429912:E153K;ENSP00000431105:E153K;ENSP00000428487:E100K	ENSP00000317891:E153K	E	-	1	0	TNIP1	150416690	1.000000	0.71417	0.813000	0.32504	0.291000	0.27294	4.993000	0.63895	1.248000	0.43934	0.655000	0.94253	GAG		0.682	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374914.1	NM_006058		20	21	0	0	0	1	0	20	21				
RUNX1T1	862	broad.mit.edu	37	8	92972595	92972595	+	Missense_Mutation	SNP	G	G	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr8:92972595G>T	ENST00000523629.1	-	12	2144	c.1690C>A	c.(1690-1692)Cct>Act	p.P564T	RUNX1T1_ENST00000396218.1_Missense_Mutation_p.P537T|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.P564T|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.P575T|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.P527T|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.P527T|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.P537T|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.P527T	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	564					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CTGACTGCAGGTGTGTCTCCC	0.622																																						ENST00000523629.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(1690-1692)Cct>Act		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							88.0	70.0	76.0					8																	92972595		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92972595G>T	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1690C>A	8.37:g.92972595G>T	ENSP00000428543:p.Pro564Thr					RUNX1T1_ENST00000422361.2_Missense_Mutation_p.P527T|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.P527T|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.P564T|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.P575T|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.P537T|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.P537T|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.P527T	p.P564T	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		12	2144	-			564					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.1690C>A	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.384025	0.25031	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.34472	1.37;1.38;1.37;1.38;1.38;1.38;1.36;1.38	5.86	5.86	0.93980	.	0.167657	0.53938	D	0.000051	T	0.55497	0.1924	L	0.46157	1.445	0.80722	D	1	B;D;B;B	0.71674	0.146;0.998;0.001;0.206	B;D;B;B	0.76071	0.024;0.987;0.002;0.058	T	0.41251	-0.9519	10	0.33940	T	0.23	-14.31	20.1802	0.98196	0.0:0.0:1.0:0.0	.	575;527;564;537	E7EPN4;Q7Z4J5;Q06455;Q06455-2	.;.;MTG8_HUMAN;.	T	564;537;564;527;527;527;575;537	ENSP00000428543:P564T;ENSP00000379520:P537T;ENSP00000265814:P564T;ENSP00000353504:P527T;ENSP00000390137:P527T;ENSP00000428742:P527T;ENSP00000402257:P575T;ENSP00000430728:P537T	ENSP00000265814:P564T	P	-	1	0	RUNX1T1	93041771	1.000000	0.71417	0.818000	0.32626	0.077000	0.17291	7.350000	0.79385	2.777000	0.95525	0.655000	0.94253	CCT		0.622	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		25	20	1	0	6.21321e-17	1	6.81727e-17	25	20				
ACSM2B	348158	broad.mit.edu	37	16	20554565	20554565	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr16:20554565G>A	ENST00000329697.6	-	11	1469	c.1301C>T	c.(1300-1302)gCa>gTa	p.A434V	ACSM2B_ENST00000565322.1_Missense_Mutation_p.A355V|ACSM2B_ENST00000567001.1_Missense_Mutation_p.A434V|ACSM2B_ENST00000567288.1_5'Flank|ACSM2B_ENST00000565232.1_Missense_Mutation_p.A434V	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	434					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						AATGTTGGCTGCTGTCTTGTC	0.488																																						ENST00000329697.6																			0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(1300-1302)gCa>gTa		acyl-CoA synthetase medium-chain family member 2B							97.0	146.0	129.0					16																	20554565		2200	4300	6500	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20554565G>A	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1301C>T	16.37:g.20554565G>A	ENSP00000327453:p.Ala434Val					ACSM2B_ENST00000565322.1_Missense_Mutation_p.A355V|ACSM2B_ENST00000567001.1_Missense_Mutation_p.A434V|ACSM2B_ENST00000565232.1_Missense_Mutation_p.A434V	p.A434V	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN			11	1469	-			434					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.1301C>T	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	G	9.592	1.126486	0.20959	.	.	ENSG00000066813	ENST00000329697	T	0.52754	0.65	3.26	-0.244	0.13031	AMP-dependent synthetase/ligase (1);	1.071750	0.07407	N	0.891663	T	0.37461	0.1004	L	0.39020	1.185	0.80722	D	1	B;B	0.20671	0.047;0.047	B;B	0.26094	0.066;0.066	T	0.20174	-1.0283	10	0.56958	D	0.05	0.5334	6.2126	0.20638	0.094:0.0:0.5707:0.3353	.	434;434	A8K051;Q68CK6	.;ACS2B_HUMAN	V	434	ENSP00000327453:A434V	ENSP00000327453:A434V	A	-	2	0	ACSM2B	20462066	0.000000	0.05858	0.873000	0.34254	0.124000	0.20399	0.236000	0.17967	-0.124000	0.11724	0.609000	0.83330	GCA		0.488	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		39	38	0	0	0	1	0	39	38				
MTMR1	8776	broad.mit.edu	37	X	149867750	149867750	+	Missense_Mutation	SNP	G	G	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chrX:149867750G>A	ENST00000370390.3	+	2	386	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	MTMR1_ENST00000451863.2_Missense_Mutation_p.E77K|MTMR1_ENST00000445323.2_Missense_Mutation_p.E77K|MTMR1_ENST00000541925.1_5'UTR|MTMR1_ENST00000544228.1_Missense_Mutation_p.E77K|MTMR1_ENST00000542156.1_Missense_Mutation_p.E77K	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	77					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGTGACATCAGAAAATGTGTC	0.363																																						ENST00000445323.2																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23						c.(229-231)Gaa>Aaa		myotubularin related protein 1							137.0	128.0	131.0					X																	149867750		2203	4300	6503	SO:0001583	missense	8776					plasma membrane	protein tyrosine phosphatase activity	g.chrX:149867750G>A	U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.229G>A	X.37:g.149867750G>A	ENSP00000359417:p.Glu77Lys					MTMR1_ENST00000451863.2_Missense_Mutation_p.E77K|MTMR1_ENST00000542156.1_Missense_Mutation_p.E77K|MTMR1_ENST00000544228.1_Missense_Mutation_p.E77K|MTMR1_ENST00000541925.1_5'UTR|MTMR1_ENST00000370390.3_Missense_Mutation_p.E77K	p.E77K			Q13613	MTMR1_HUMAN			2	350	+	Acute lymphoblastic leukemia(192;6.56e-05)		77					A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Missense_Mutation	SNP	ENST00000370390.3	37	c.229G>A	CCDS14695.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.559281	0.86335	.	.	ENSG00000063601	ENST00000542156;ENST00000370390;ENST00000490316;ENST00000445323;ENST00000544228;ENST00000451863;ENST00000438018;ENST00000436701	D;D;D;D;D;D;D;D	0.96168	-3.46;-3.69;-3.54;-3.7;-3.69;-3.93;-3.45;-3.58	5.65	5.65	0.86999	.	0.090728	0.85682	D	0.000000	D	0.96128	0.8738	M	0.62723	1.935	0.80722	D	1	P;D;B	0.54772	0.862;0.968;0.245	B;P;B	0.54889	0.445;0.763;0.032	D	0.94943	0.8093	10	0.27082	T	0.32	.	17.3996	0.87455	0.0:0.0:1.0:0.0	.	77;77;77	Q13613;F8WA39;Q8NEC6	MTMR1_HUMAN;.;.	K	77;77;77;77;77;77;24;24	ENSP00000445281:E77K;ENSP00000359417:E77K;ENSP00000436957:E77K;ENSP00000414178:E77K;ENSP00000440534:E77K;ENSP00000387446:E77K;ENSP00000389884:E24K;ENSP00000414925:E24K	ENSP00000359417:E77K	E	+	1	0	MTMR1	149618408	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.935000	0.87658	2.378000	0.81104	0.538000	0.68166	GAA		0.363	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789		31	24	0	0	0	1	0	31	24				
OR10Z1	128368	broad.mit.edu	37	1	158577123	158577123	+	Missense_Mutation	SNP	A	A	G			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr1:158577123A>G	ENST00000361284.1	+	1	895	c.895A>G	c.(895-897)Aca>Gca	p.T299A		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	299						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GGCTATACAGACAGCTCTGAG	0.453																																						ENST00000361284.1																			0				endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37						c.(895-897)Aca>Gca		olfactory receptor, family 10, subfamily Z, member 1							158.0	161.0	160.0					1																	158577123		2203	4300	6503	SO:0001583	missense	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158577123A>G	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.895A>G	1.37:g.158577123A>G	ENSP00000354707:p.Thr299Ala						p.T299A	NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN			1	895	+	all_hematologic(112;0.0378)		299					Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	37	c.895A>G	CCDS30901.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.766095	0.00651	.	.	ENSG00000198967	ENST00000361284	T	0.36520	1.25	5.19	-1.19	0.09585	.	0.877074	0.09464	N	0.798530	T	0.03095	0.0091	N	0.02158	-0.66	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45234	-0.9275	10	0.10902	T	0.67	.	6.2065	0.20606	0.46:0.0:0.411:0.129	.	299	Q8NGY1	O10Z1_HUMAN	A	299	ENSP00000354707:T299A	ENSP00000354707:T299A	T	+	1	0	OR10Z1	156843747	0.000000	0.05858	0.213000	0.23690	0.242000	0.25591	-0.253000	0.08794	-0.111000	0.12001	-0.263000	0.10527	ACA		0.453	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		31	154	0	0	0	1	0	31	154				
SLC23A2	9962	broad.mit.edu	37	20	4880344	4880344	+	Silent	SNP	G	G	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr20:4880344G>A	ENST00000379333.1	-	6	731	c.339C>T	c.(337-339)tgC>tgT	p.C113C	SLC23A2_ENST00000338244.1_Silent_p.C113C|SLC23A2_ENST00000424750.2_Silent_p.C113C|SLC23A2_ENST00000468355.1_5'UTR	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	113					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TGCCGCTGAAGCATGTCAGGT	0.502																																						ENST00000379333.1																			0				endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(337-339)tgC>tgT		solute carrier family 23 (ascorbic acid transporter), member 2							124.0	105.0	111.0					20																	4880344		2203	4300	6503	SO:0001819	synonymous_variant	9962				L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	g.chr20:4880344G>A	AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.339C>T	20.37:g.4880344G>A						SLC23A2_ENST00000424750.2_Silent_p.C113C|SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000338244.1_Silent_p.C113C	p.C113C	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN			6	731	-			113					B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Silent	SNP	ENST00000379333.1	37	c.339C>T	CCDS13085.1																																																																																				0.502	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1			40	88	0	0	0	1	0	40	88				
NFE2L2	4780	broad.mit.edu	37	2	178098800	178098800	+	Missense_Mutation	SNP	T	T	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr2:178098800T>A	ENST00000397062.3	-	2	799	c.245A>T	c.(244-246)gAa>gTa	p.E82V	NFE2L2_ENST00000446151.2_Missense_Mutation_p.E66V|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E66V|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E66V|NFE2L2_ENST00000423513.1_Missense_Mutation_p.E66V	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	82					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E82G(3)|p.G81_F83delGEF(1)|p.E82V(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TGGGAGAAATTCACCTGTCTC	0.433			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												ENST00000397062.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			"""NSCLC, HNSCC"""		5	Substitution - Missense(4)|Deletion - In frame(1)	p.E82G(3)|p.G81_F83delGEF(1)|p.E82V(1)	liver(3)|lung(1)|oesophagus(1)	central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158						c.(244-246)gAa>gTa		nuclear factor, erythroid 2-like 2							137.0	137.0	137.0					2																	178098800		1900	4105	6005	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098800T>A		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.245A>T	2.37:g.178098800T>A	ENSP00000380252:p.Glu82Val	HNSCC(56;0.16)				NFE2L2_ENST00000423513.1_Missense_Mutation_p.E66V|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E66V|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E66V|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E66V	p.E82V	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	799	-			82					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.245A>T	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.988469	0.93106	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T	0.38401	1.6;1.6;1.6;1.14;1.14;1.6	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.66287	0.2774	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.997;0.996;0.999;0.997	T	0.72959	-0.4133	10	0.87932	D	0	.	16.098	0.81144	0.0:0.0:0.0:1.0	.	66;66;66;82	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	V	66;82;66;66;66;66	ENSP00000380253:E66V;ENSP00000380252:E82V;ENSP00000411575:E66V;ENSP00000400073:E66V;ENSP00000412191:E66V;ENSP00000410015:E66V	ENSP00000380252:E82V	E	-	2	0	NFE2L2	177807046	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.503000	0.81632	2.210000	0.71456	0.460000	0.39030	GAA		0.433	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		73	34	0	0	0	1	0	73	34				
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50.0	48.0	49.0					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"""High-mobility group / Canonical"""	5004	protein-coding gene	gene with protein product	"""non-histone chromosomal protein"""	300193	"""high-mobility group (nonhistone chromosomal) protein 4"", ""high-mobility group box 3"""	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		4	83	0	0	0	1	0	4	83				
ZNF431	170959	broad.mit.edu	37	19	21366030	21366030	+	Silent	SNP	A	A	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr19:21366030A>T	ENST00000311048.7	+	5	1068	c.924A>T	c.(922-924)atA>atT	p.I308I	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	308					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						CACATAAGATAATTCATACTG	0.393																																						ENST00000311048.7																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						c.(922-924)atA>atT		zinc finger protein 431							60.0	64.0	63.0					19																	21366030		2199	4298	6497	SO:0001819	synonymous_variant	170959				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21366030A>T	AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"""Zinc fingers, C2H2-type"", ""-"""	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.924A>T	19.37:g.21366030A>T						ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	p.I308I	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN			5	1068	+			308					A8KAK7|Q8IWC4	Silent	SNP	ENST00000311048.7	37	c.924A>T	CCDS32979.1																																																																																				0.393	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463943.1	XM_086098		18	43	0	0	0	1	0	18	43				
CARD14	79092	broad.mit.edu	37	17	78155327	78155327	+	Silent	SNP	C	C	T	rs549347508		TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr17:78155327C>T	ENST00000573882.1	+	4	626	c.90C>T	c.(88-90)atC>atT	p.I30I	CARD14_ENST00000392434.2_5'Flank|CARD14_ENST00000570421.1_Silent_p.I30I|CARD14_ENST00000344227.2_Silent_p.I30I			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	30	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GCCACAGGATCGTACGCTGCA	0.677													c|||	1	0.000199681	0.0	0.0	5008	,	,		16365	0.0		0.0	False		,,,				2504	0.001					ENST00000573882.1																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23						c.(88-90)atC>atT		caspase recruitment domain family, member 14							52.0	33.0	40.0					17																	78155327		2197	4287	6484	SO:0001819	synonymous_variant	79092				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding	g.chr17:78155327C>T	AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"""psoriasis susceptibility 2"""	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.90C>T	17.37:g.78155327C>T						CARD14_ENST00000344227.2_Silent_p.I30I|CARD14_ENST00000570421.1_Silent_p.I30I	p.I30I			Q9BXL6	CAR14_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		4	626	+	all_neural(118;0.0952)		30			CARD.		B8QQJ3|Q9BVB5	Silent	SNP	ENST00000573882.1	37	c.90C>T	CCDS11768.1																																																																																				0.677	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1			5	6	0	0	0	1	0	5	6				
ZNF792	126375	broad.mit.edu	37	19	35449416	35449416	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr19:35449416C>T	ENST00000404801.1	-	4	1729	c.1343G>A	c.(1342-1344)cGg>cAg	p.R448Q	ZNF792_ENST00000605484.1_Missense_Mutation_p.R381Q	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	448					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CCCGTGAGGCCGCTCGCCAGT	0.502																																					GBM(1;7 183 21053 22581 22847)	ENST00000404801.1																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12						c.(1342-1344)cGg>cAg		zinc finger protein 792							117.0	115.0	116.0					19																	35449416		2203	4300	6503	SO:0001583	missense	126375				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35449416C>T	AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"""Zinc fingers, C2H2-type"", ""-"""	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.1343G>A	19.37:g.35449416C>T	ENSP00000385099:p.Arg448Gln					ZNF792_ENST00000605484.1_Missense_Mutation_p.R381Q	p.R448Q	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		4	1729	-	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		448					B4E333|Q495L1|Q495L3|Q8N932	Missense_Mutation	SNP	ENST00000404801.1	37	c.1343G>A	CCDS12440.2	.	.	.	.	.	.	.	.	.	.	c	12.08	1.830462	0.32329	.	.	ENSG00000180884	ENST00000404801;ENST00000379189	T	0.19806	2.12	2.55	0.401	0.16338	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19366	0.0465	M	0.76938	2.355	0.09310	N	1	D	0.53462	0.96	B	0.36335	0.222	T	0.23297	-1.0192	9	0.87932	D	0	.	4.8749	0.13651	0.0:0.5464:0.0:0.4536	.	448	Q3KQV3	ZN792_HUMAN	Q	448;208	ENSP00000385099:R448Q	ENSP00000368487:R208Q	R	-	2	0	ZNF792	40141256	0.000000	0.05858	0.005000	0.12908	0.234000	0.25298	-0.094000	0.11094	0.172000	0.19760	0.563000	0.77884	CGG		0.502	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1	NM_175872		30	93	0	0	0	1	0	30	93				
KMT2E	55904	broad.mit.edu	37	7	104752302	104752302	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr7:104752302C>G	ENST00000311117.3	+	27	4644	c.4099C>G	c.(4099-4101)Caa>Gaa	p.Q1367E	KMT2E_ENST00000257745.4_Missense_Mutation_p.Q1367E|KMT2E_ENST00000334877.4_Missense_Mutation_p.Q1325E|SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000334914.7_Missense_Mutation_p.Q422E	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1367					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										AATTCCTGCTCAAGCACACGG	0.408																																						ENST00000334877.4																			0											c.(3973-3975)Caa>Gaa		lysine (K)-specific methyltransferase 2E							100.0	95.0	97.0					7																	104752302		2203	4300	6503	SO:0001583	missense	55904							g.chr7:104752302C>G	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.4099C>G	7.37:g.104752302C>G	ENSP00000312379:p.Gln1367Glu					KMT2E_ENST00000257745.4_Missense_Mutation_p.Q1367E|KMT2E_ENST00000334914.7_Missense_Mutation_p.Q422E|KMT2E_ENST00000311117.3_Missense_Mutation_p.Q1367E|SRPK2_ENST00000493638.1_Intron	p.Q1325E							26	4507	+								B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	c.3973C>G	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.182563	0.38511	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000334914	D;D;D;T	0.91792	-2.91;-2.62;-2.91;0.84	4.92	4.92	0.64577	.	0.498861	0.18454	N	0.140740	D	0.84202	0.5420	N	0.24115	0.695	0.48236	D	0.999616	B;B	0.31290	0.318;0.03	B;B	0.32762	0.152;0.007	T	0.79420	-0.1811	10	0.07325	T	0.83	.	11.949	0.52944	0.0:0.9196:0.0:0.0804	.	1287;1367	F8W6H1;Q8IZD2	.;MLL5_HUMAN	E	1367;1367;1325;1287;1367;422	ENSP00000312379:Q1367E;ENSP00000335599:Q1325E;ENSP00000257745:Q1367E;ENSP00000333986:Q422E	ENSP00000257745:Q1367E	Q	+	1	0	MLL5	104539538	0.682000	0.27624	0.060000	0.19600	0.703000	0.40648	2.629000	0.46485	2.424000	0.82194	0.650000	0.86243	CAA		0.408	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			40	87	0	0	0	1	0	40	87				
HIST1H2BA	255626	broad.mit.edu	37	6	25727462	25727462	+	Missense_Mutation	SNP	C	C	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr6:25727462C>T	ENST00000274764.2	+	1	326	c.326C>T	c.(325-327)gCt>gTt	p.A109V	HIST1H2AA_ENST00000297012.3_5'Flank	NM_170610.2	NP_733759.1	Q96A08	H2B1A_HUMAN	histone cluster 1, H2ba	109					cellular response to acid chemical (GO:0071229)|chromatin organization (GO:0006325)|inflammatory response (GO:0006954)|mononuclear cell migration (GO:0071674)|nucleosome assembly (GO:0006334)|nucleosome disassembly (GO:0006337)|plasminogen activation (GO:0031639)|positive regulation of binding (GO:0051099)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	extrinsic component of plasma membrane (GO:0019897)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)	2						GGAGAGCTGGCTAAACATGCT	0.522																																						ENST00000274764.2																			0				breast(1)|kidney(1)	2						c.(325-327)gCt>gTt		histone cluster 1, H2ba							283.0	204.0	231.0					6																	25727462		2203	4300	6503	SO:0001583	missense	255626				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:25727462C>T	AF397301	CCDS4563.1	6p22.2	2011-01-27	2006-10-11		ENSG00000146047	ENSG00000146047		"""Histones / Replication-dependent"""	18730	protein-coding gene	gene with protein product		609904	"""H2B histone family, member U, (testis-specific)"", ""histone 1, H2ba"""			12408966, 12213818	Standard	NM_170610		Approved	bA317E16.3, STBP, TSH2B, H2BFU	uc003nfd.3	Q96A08	OTTHUMG00000014408	ENST00000274764.2:c.326C>T	6.37:g.25727462C>T	ENSP00000274764:p.Ala109Val						p.A109V	NM_170610.2	NP_733759.1	Q96A08	H2B1A_HUMAN			1	326	+			109					B2R544|Q6NZ98|Q6NZA0|Q6NZA1	Missense_Mutation	SNP	ENST00000274764.2	37	c.326C>T	CCDS4563.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.271592	0.40194	.	.	ENSG00000146047	ENST00000274764	T	0.48522	0.81	3.5	2.63	0.31362	Histone-fold (2);	0.000000	0.64402	D	0.000002	T	0.64023	0.2561	M	0.91090	3.175	0.52099	D	0.999941	D	0.89917	1.0	D	0.74023	0.982	T	0.71182	-0.4668	10	0.66056	D	0.02	.	10.3879	0.44152	0.0:0.8984:0.0:0.1016	.	109	Q96A08	H2B1A_HUMAN	V	109	ENSP00000274764:A109V	ENSP00000274764:A109V	A	+	2	0	HIST1H2BA	25835441	1.000000	0.71417	0.993000	0.49108	0.025000	0.11179	5.824000	0.69279	1.061000	0.40601	0.644000	0.83932	GCT		0.522	HIST1H2BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040066.1	NM_170610		17	28	0	0	0	1	0	17	28				
CSE1L	1434	broad.mit.edu	37	20	47707502	47707502	+	Missense_Mutation	SNP	A	A	G			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr20:47707502A>G	ENST00000262982.2	+	21	2431	c.2308A>G	c.(2308-2310)Atc>Gtc	p.I770V	CSE1L_ENST00000542325.1_Missense_Mutation_p.I553V|CSE1L_ENST00000469700.1_3'UTR|CSE1L_ENST00000396192.3_Missense_Mutation_p.I714V	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	770					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TAGGAAACAAATCTTCATTCT	0.284																																						ENST00000262982.2																			0				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35						c.(2308-2310)Atc>Gtc		CSE1 chromosome segregation 1-like (yeast)							55.0	59.0	58.0					20																	47707502		2203	4297	6500	SO:0001583	missense	1434				apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity	g.chr20:47707502A>G	U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"""Exportins"""	2431	protein-coding gene	gene with protein product	"""cellular apoptosis susceptibility"""	601342	"""chromosome segregation 1 (yeast homolog)-like"""			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.2308A>G	20.37:g.47707502A>G	ENSP00000262982:p.Ile770Val					CSE1L_ENST00000542325.1_Missense_Mutation_p.I553V|CSE1L_ENST00000469700.1_3'UTR|CSE1L_ENST00000396192.3_Missense_Mutation_p.I714V	p.I770V	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)		21	2431	+			770					A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	ENST00000262982.2	37	c.2308A>G	CCDS13412.1	.	.	.	.	.	.	.	.	.	.	A	13.85	2.360876	0.41801	.	.	ENSG00000124207	ENST00000417408;ENST00000262982;ENST00000542325;ENST00000396192	T;T;T	0.53857	0.6;0.6;0.6	5.32	5.32	0.75619	Armadillo-like helical (1);Armadillo-type fold (1);CAS/CSE, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.44244	0.1284	N	0.17723	0.515	0.80722	D	1	P;P;B;B;B	0.39022	0.461;0.655;0.343;0.144;0.407	B;B;P;B;B	0.44359	0.205;0.309;0.447;0.086;0.11	T	0.30001	-0.9993	10	0.19590	T	0.45	-12.9211	15.5939	0.76562	1.0:0.0:0.0:0.0	.	459;553;714;714;770	F5GX54;B4DUC5;A3RLL6;F8W904;P55060	.;.;.;.;XPO2_HUMAN	V	368;770;553;714	ENSP00000262982:I770V;ENSP00000446477:I553V;ENSP00000379495:I714V	ENSP00000262982:I770V	I	+	1	0	CSE1L	47140909	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	8.910000	0.92685	2.138000	0.66242	0.528000	0.53228	ATC		0.284	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2	NM_001316		60	58	0	0	0	1	0	60	58				
PML	5371	broad.mit.edu	37	15	74328212	74328212	+	Intron	SNP	C	C	G			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr15:74328212C>G	ENST00000268058.3	+	7	1806				PML_ENST00000359928.4_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000565898.1_Intron|PML_ENST00000563500.1_3'UTR|PML_ENST00000436891.3_3'UTR|PML_ENST00000569965.1_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000354026.6_Missense_Mutation_p.P756A|PML_ENST00000435786.2_3'UTR|PML_ENST00000395132.2_Intron|PML_ENST00000268059.6_Missense_Mutation_p.P804A	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GGAAGCCTCTCCAATTACATT	0.607			T	"""RARA, PAX5"""	"""APL, ALL"""																																	ENST00000268059.6				Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	"""RARA, PAX5"""		"""APL, ALL"""		0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						c.(2410-2412)Cca>Gca		promyelocytic leukemia							86.0	106.0	99.0					15																	74328212		2198	4297	6495	SO:0001627	intron_variant	5371				cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr15:74328212C>G	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1710+1341C>G	15.37:g.74328212C>G						PML_ENST00000569965.1_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000436891.3_3'UTR|PML_ENST00000354026.6_Missense_Mutation_p.P756A|PML_ENST00000395132.2_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000435786.2_3'UTR|PML_ENST00000359928.4_Intron|PML_ENST00000565898.1_Intron|PML_ENST00000268058.3_Intron|PML_ENST00000563500.1_3'UTR	p.P804A	NM_033239.2|NM_033244.3	NP_150242.1|NP_150247.2	P29590	PML_HUMAN			8	2506	+			94					E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	ENST00000268058.3	37	c.2410C>G	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	C	9.282	1.048440	0.19827	.	.	ENSG00000140464	ENST00000268059;ENST00000354026	.	.	.	3.17	1.14	0.20703	.	.	.	.	.	T	0.14227	0.0344	N	0.08118	0	0.09310	N	1	P;P	0.46142	0.873;0.713	B;B	0.36959	0.237;0.162	T	0.11084	-1.0602	8	0.87932	D	0	.	9.0295	0.36249	0.0:0.5265:0.4735:0.0	.	756;804	P29590-13;P29590-8	.;.	A	804;756	.	ENSP00000268059:P804A	P	+	1	0	PML	72115265	0.002000	0.14202	0.002000	0.10522	0.135000	0.20990	0.592000	0.23984	0.322000	0.23283	0.456000	0.33151	CCA		0.607	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		76	176	0	0	0	1	0	76	176				
MGAT2	4247	broad.mit.edu	37	14	50088589	50088589	+	Silent	SNP	G	G	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr14:50088589G>A	ENST00000305386.2	+	1	1101	c.603G>A	c.(601-603)ccG>ccA	p.P201P	RP11-649E7.5_ENST00000555043.1_RNA|RPL36AL_ENST00000298289.6_5'Flank	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	201					cellular protein metabolic process (GO:0044267)|oligosaccharide biosynthetic process (GO:0009312)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0008455)|carbohydrate binding (GO:0030246)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					GAGACCTGCCGAAGAATGCCG	0.488																																						ENST00000305386.2																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11						c.(601-603)ccG>ccA		mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase							106.0	105.0	105.0					14																	50088589		2203	4300	6503	SO:0001819	synonymous_variant	4247				oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity	g.chr14:50088589G>A	U15128	CCDS9690.1	14q21	2013-02-25			ENSG00000168282	ENSG00000168282	2.4.1.143	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7045	protein-coding gene	gene with protein product		602616				7635144	Standard	NM_002408		Approved	GNT-II	uc001wwr.3	Q10469	OTTHUMG00000140271	ENST00000305386.2:c.603G>A	14.37:g.50088589G>A						RP11-649E7.5_ENST00000555043.1_RNA	p.P201P	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN			1	1101	+	all_epithelial(31;0.0021)|Breast(41;0.0124)		201					B3KPC5|B3KQM0	Silent	SNP	ENST00000305386.2	37	c.603G>A	CCDS9690.1																																																																																				0.488	MGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276807.1	NM_002408		169	95	0	0	0	1	0	169	95				
AKAP7	9465	broad.mit.edu	37	6	131481297	131481297	+	Missense_Mutation	SNP	C	C	G			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr6:131481297C>G	ENST00000431975.2	+	3	348	c.250C>G	c.(250-252)Caa>Gaa	p.Q84E	AKAP7_ENST00000541650.1_Missense_Mutation_p.Q83E|AKAP7_ENST00000368123.4_Missense_Mutation_p.Q62E|AKAP7_ENST00000366358.2_3'UTR	NM_016377.3	NP_057461.2	Q9P0M2	AKA7G_HUMAN	A kinase (PRKA) anchor protein 7	84						cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|nucleotide binding (GO:0000166)|protein kinase A binding (GO:0051018)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		AAAAGATTATCAACCCAACTA	0.299																																						ENST00000431975.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13						c.(250-252)Caa>Gaa		A kinase (PRKA) anchor protein 7							52.0	52.0	52.0					6																	131481297		2203	4295	6498	SO:0001583	missense	9465				intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding	g.chr6:131481297C>G	AF047715	CCDS5142.1, CCDS5143.1, CCDS5144.1, CCDS5142.2	6q23.2	2012-10-24			ENSG00000118507	ENSG00000118507		"""A-kinase anchor proteins"""	377	protein-coding gene	gene with protein product		604693				9545239	Standard	NM_016377		Approved	AKAP18, AKAP15	uc003qck.4	O43687	OTTHUMG00000015563	ENST00000431975.2:c.250C>G	6.37:g.131481297C>G	ENSP00000405252:p.Gln84Glu					AKAP7_ENST00000366358.2_3'UTR|AKAP7_ENST00000368123.4_Missense_Mutation_p.Q62E|AKAP7_ENST00000541650.1_Missense_Mutation_p.Q83E	p.Q84E	NM_016377.3	NP_057461.2	O43687	AKA7A_HUMAN		GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)	3	348	+	Breast(56;0.152)		0					B4DUC3|Q9HCZ8	Missense_Mutation	SNP	ENST00000431975.2	37	c.250C>G	CCDS5142.2	.	.	.	.	.	.	.	.	.	.	C	18.97	3.734829	0.69189	.	.	ENSG00000118507	ENST00000431975;ENST00000541650;ENST00000368123	T;T;T	0.32023	1.48;1.47;1.48	5.26	5.26	0.73747	RNA ligase/cyclic nucleotide phosphodiesterase (1);Protein kinase A anchor protein, nuclear localisation signal domain (1);	0.072712	0.53938	D	0.000044	T	0.28366	0.0701	M	0.72118	2.19	0.35369	D	0.788897	P	0.46952	0.887	P	0.47376	0.545	T	0.08186	-1.0734	10	0.25751	T	0.34	-11.6085	14.7386	0.69437	0.0:1.0:0.0:0.0	.	84	Q9P0M2	AKA7G_HUMAN	E	84;83;62	ENSP00000405252:Q84E;ENSP00000441048:Q83E;ENSP00000357105:Q62E	ENSP00000357105:Q62E	Q	+	1	0	AKAP7	131522990	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	2.771000	0.47670	2.613000	0.88420	0.650000	0.86243	CAA		0.299	AKAP7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042209.2	NM_004842		28	40	0	0	0	1	0	28	40				
CTGF	1490	broad.mit.edu	37	6	132270505	132270505	+	Missense_Mutation	SNP	T	T	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr6:132270505T>A	ENST00000367976.3	-	5	1149	c.949A>T	c.(949-951)Atg>Ttg	p.M317L	RP11-69I8.3_ENST00000435287.1_RNA	NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	317	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.|Heparin-binding.				angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|chondrocyte proliferation (GO:0035988)|cytosolic calcium ion transport (GO:0060401)|DNA replication (GO:0006260)|epidermis development (GO:0008544)|extracellular matrix constituent secretion (GO:0070278)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|organ senescence (GO:0010260)|ossification (GO:0001503)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of cell activation (GO:0050867)|positive regulation of cell death (GO:0010942)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of chondrocyte differentiation (GO:0032330)|response to amino acid (GO:0043200)|response to anoxia (GO:0034059)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to mineralocorticoid (GO:0051385)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell cortex (GO:0005938)|cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|insulin-like growth factor binding (GO:0005520)			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		ATGAACATCATGTTCTTCTTC	0.537																																					Esophageal Squamous(127;510 1660 12817 24400 38449)	ENST00000367976.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13						c.(949-951)Atg>Ttg		connective tissue growth factor							144.0	128.0	134.0					6																	132270505		2203	4300	6503	SO:0001583	missense	1490				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding	g.chr6:132270505T>A	X78947	CCDS5151.1	6q23.2	2008-02-05			ENSG00000118523	ENSG00000118523			2500	protein-coding gene	gene with protein product		121009				1654338	Standard	NM_001901		Approved	IGFBP8, CCN2	uc003qcz.3	P29279	OTTHUMG00000015573	ENST00000367976.3:c.949A>T	6.37:g.132270505T>A	ENSP00000356954:p.Met317Leu						p.M317L	NM_001901.2	NP_001892.1	P29279	CTGF_HUMAN		GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)	5	1149	-	Breast(56;0.0602)		317			CTCK.|Heparin-binding.		E1P578|Q6LCY0|Q96A79|Q96QX2|Q9UDL6	Missense_Mutation	SNP	ENST00000367976.3	37	c.949A>T	CCDS5151.1	.	.	.	.	.	.	.	.	.	.	T	19.67	3.871334	0.72065	.	.	ENSG00000118523	ENST00000367976	T	0.15952	2.38	5.55	5.55	0.83447	Cystine knot (1);Cystine knot, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.27900	0.0687	L	0.52206	1.635	0.54753	D	0.999985	D	0.63880	0.993	D	0.77557	0.99	T	0.01748	-1.1282	10	0.62326	D	0.03	.	15.9906	0.80202	0.0:0.0:0.0:1.0	.	317	P29279	CTGF_HUMAN	L	317	ENSP00000356954:M317L	ENSP00000356954:M317L	M	-	1	0	CTGF	132312198	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	5.118000	0.64673	2.238000	0.73509	0.477000	0.44152	ATG		0.537	CTGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042239.2	NM_001901		38	66	0	0	0	1	0	38	66				
GTPBP3	84705	broad.mit.edu	37	19	17449927	17449927	+	Intron	SNP	C	C	G			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr19:17449927C>G	ENST00000324894.8	+	6	732				GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000358792.7_Silent_p.P252P|GTPBP3_ENST00000600625.1_Intron|GTPBP3_ENST00000361619.5_Intron	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)						tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						TTCTCTCACCCACAGCCGACA	0.627																																						ENST00000358792.7																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						c.(754-756)ccC>ccG		GTP binding protein 3 (mitochondrial)							92.0	77.0	82.0					19																	17449927		2203	4300	6503	SO:0001627	intron_variant	84705				tRNA modification	mitochondrion	GTP binding|GTPase activity	g.chr19:17449927C>G	AF360742	CCDS32950.1, CCDS32951.1, CCDS56088.1, CCDS59364.1	19p13.2	2008-02-05				ENSG00000130299			14880	protein-coding gene	gene with protein product		608536				1290633	Standard	NM_001128855		Approved	MSS1, THDF1, GTPBG3, MTGP1, FLJ14700	uc010xpo.2	Q969Y2		ENST00000324894.8:c.665-5C>G	19.37:g.17449927C>G						GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000600625.1_Intron|GTPBP3_ENST00000324894.8_Intron|GTPBP3_ENST00000361619.5_Intron	p.P252P			Q969Y2	GTPB3_HUMAN			5	813	+			221					A6NFH1|A6NIG5|A6NKR4|A8K7B4|B7Z4V8|Q8TCY6|Q8WUW9|Q969G4|Q9BX61	Silent	SNP	ENST00000324894.8	37	c.756C>G	CCDS32951.1																																																																																				0.627	GTPBP3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463624.1	NM_032620		17	35	0	0	0	1	0	17	35				
SLC25A2	83884	broad.mit.edu	37	5	140682872	140682872	+	Missense_Mutation	SNP	G	G	C			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr5:140682872G>C	ENST00000239451.4	-	1	740	c.561C>G	c.(559-561)ttC>ttG	p.F187L		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	187					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	AGCCACCAAAGAAAAAGAAAT	0.463																																						ENST00000239451.4																			0				breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(559-561)ttC>ttG		solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	L-Ornithine(DB00129)						77.0	82.0	80.0					5																	140682872		2203	4300	6503	SO:0001583	missense	83884				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	g.chr5:140682872G>C	AF332005	CCDS4258.1	5q31.3	2013-05-22			ENSG00000120329	ENSG00000120329		"""Solute carriers"""	22921	protein-coding gene	gene with protein product		608157				11004451	Standard	NM_031947		Approved	ORNT2	uc003ljf.3	Q9BXI2	OTTHUMG00000129604	ENST00000239451.4:c.561C>G	5.37:g.140682872G>C	ENSP00000239451:p.Phe187Leu						p.F187L	NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	1	740	-		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	187					Q496C1|Q6XUI0|Q8NFZ2	Missense_Mutation	SNP	ENST00000239451.4	37	c.561C>G	CCDS4258.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344015	0.61073	.	.	ENSG00000120329	ENST00000239451	T	0.77750	-1.12	3.78	3.78	0.43462	Mitochondrial carrier domain (2);	0.053414	0.85682	D	0.000000	T	0.82268	0.5000	L	0.57130	1.785	0.54753	D	0.999985	P	0.52577	0.954	P	0.56612	0.802	D	0.84650	0.0700	10	0.87932	D	0	-12.4759	13.9383	0.64039	0.0:0.0:1.0:0.0	.	187	Q9BXI2	ORNT2_HUMAN	L	187	ENSP00000239451:F187L	ENSP00000239451:F187L	F	-	3	2	SLC25A2	140663056	1.000000	0.71417	0.992000	0.48379	0.594000	0.36715	3.827000	0.55745	2.424000	0.82194	0.650000	0.86243	TTC		0.463	SLC25A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251799.2	NM_031947		25	67	0	0	0	1	0	25	67				
ACMSD	130013	broad.mit.edu	37	2	135596302	135596303	+	Frame_Shift_Ins	INS	-	-	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr2:135596302_135596303insA	ENST00000356140.5	+	1	186_187	c.50_51insA	c.(49-54)ctaaaafs	p.LK17fs	AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000392928.1_5'UTR|ACMSD_ENST00000283054.4_5'UTR	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	17					cellular nitrogen compound metabolic process (GO:0034641)|quinolinate metabolic process (GO:0046874)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminocarboxymuconate-semialdehyde decarboxylase activity (GO:0001760)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		TGGCCAGATCTAAAAAAGGTAA	0.347																																						ENST00000356140.5																			0				endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14						c.(49-51)caafs		aminocarboxymuconate semialdehyde decarboxylase																																				SO:0001589	frameshift_variant	130013				quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding	g.chr2:135596302_135596303insA	AB071418	CCDS2173.2	2q21.3	2008-03-11			ENSG00000153086	ENSG00000153086	4.1.1.45		19288	protein-coding gene	gene with protein product		608889				12140278	Standard	NM_138326		Approved		uc002ttz.3	Q8TDX5	OTTHUMG00000131711	ENST00000356140.5:c.56dupA	2.37:g.135596308_135596308dupA	ENSP00000348459:p.Leu17fs					ACMSD_ENST00000283054.4_5'UTR|AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000392928.1_5'UTR	p.Q17fs	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.115)	1	186_187	+			17					Q3B7X3|Q53SR5|Q96KY2	Frame_Shift_Ins	INS	ENST00000356140.5	37	c.50_51insA	CCDS2173.2																																																																																				0.347	ACMSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254627.1			12	38						12	38	---	---	---	---
SENP7	57337	broad.mit.edu	37	3	101070484	101070484	+	Frame_Shift_Del	DEL	T	T	-			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr3:101070484delT	ENST00000394095.2	-	12	1688	c.1635delA	c.(1633-1635)aaafs	p.K545fs	SENP7_ENST00000394094.2_Frame_Shift_Del_p.K480fs|SENP7_ENST00000358203.3_Frame_Shift_Del_p.K381fs|SENP7_ENST00000348610.3_Frame_Shift_Del_p.K512fs|SENP7_ENST00000314261.7_Frame_Shift_Del_p.K479fs|SENP7_ENST00000394091.1_Frame_Shift_Del_p.K381fs	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	545						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCTTAATATATTTTTTTGTGA	0.219																																						ENST00000394095.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1633-1635)aafs		SUMO1/sentrin specific peptidase 7			,	4,3918		0,4,1957	13.0	14.0	14.0		,	4.1	1.0	3		14	7,7871		0,7,3932	no	frameshift,frameshift	SENP7	NM_020654.3,NM_001077203.1	,	0,11,5889	A1A1,A1R,RR		0.0889,0.102,0.0932	,	,	101070484	11,11789	2055	4130	6185	SO:0001589	frameshift_variant	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101070484delT		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.1635delA	3.37:g.101070484delT	ENSP00000377655:p.Lys545fs					SENP7_ENST00000394091.1_Frame_Shift_Del_p.K381fs|SENP7_ENST00000348610.3_Frame_Shift_Del_p.K512fs|SENP7_ENST00000358203.3_Frame_Shift_Del_p.K381fs|SENP7_ENST00000394094.2_Frame_Shift_Del_p.K480fs|SENP7_ENST00000314261.7_Frame_Shift_Del_p.K479fs	p.K545fs	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN			12	1688	-			545					A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Frame_Shift_Del	DEL	ENST00000394095.2	37	c.1635delA	CCDS2941.2																																																																																				0.219	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		9	42						9	42	---	---	---	---
MFI2	4241	broad.mit.edu	37	3	196751281	196751282	+	Frame_Shift_Ins	INS	-	-	CGCCT	rs201547462|rs201973729	byFrequency	TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr3:196751281_196751282insCGCCT	ENST00000296350.5	-	4	492_493	c.379_380insAGGCG	c.(379-381)gtgfs	p.V127fs	MFI2_ENST00000296351.4_Frame_Shift_Ins_p.V127fs	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	127	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GCAGGACTTCACGCCTTTCAGG	0.629																																						ENST00000296350.5																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20						c.(379-381)gaafs		antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5																																				SO:0001589	frameshift_variant	4241				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding	g.chr3:196751281_196751282insCGCCT		CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"""CD molecules"""	7037	protein-coding gene	gene with protein product	"""melanotransferrin"", ""membrane-bound transferrin-like protein"""	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.375_379dupAGGCG	3.37:g.196751282_196751286dupCGCCT	ENSP00000296350:p.Val127fs					MFI2_ENST00000296351.4_Frame_Shift_Ins_p.E127fs	p.E127fs	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)	4	492_493	-	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		127			Transferrin-like 1.		Q9BQE2	Frame_Shift_Ins	INS	ENST00000296350.5	37	c.379_380insAGGCG	CCDS3325.1																																																																																				0.629	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1			26	104						26	104	---	---	---	---
GTF2IRD2P1	401375	broad.mit.edu	37	7	72685509	72685511	+	RNA	DEL	AAT	AAT	-			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr7:72685509_72685511delAAT	ENST00000425256.1	-	0	120									GTF2I repeat domain containing 2 pseudogene 1																		aaaaaaaaaaaatagaaTTAATG	0.473																																						ENST00000425256.1																			0																																																			401375							g.chr7:72685509_72685511delAAT	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72685509_72685511delAAT								NR_002164.1						0	120	-									RNA	DEL	ENST00000425256.1	37																																																																																						0.473	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		8	107						8	107	---	---	---	---
CYP51A1	1595	broad.mit.edu	37	7	91752493	91752494	+	Frame_Shift_Ins	INS	-	-	T			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr7:91752493_91752494insT	ENST00000003100.8	-	7	1191_1192	c.1026_1027insA	c.(1024-1029)aaatgtfs	p.C343fs	CYP51A1_ENST00000450723.1_Frame_Shift_Ins_p.C238fs|LRRD1_ENST00000422722.1_5'UTR	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	337					cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via 24,25-dihydrolanosterol (GO:0033488)|demethylation (GO:0070988)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|sterol 14-demethylase activity (GO:0008398)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Itraconazole(DB01167)|Ketoconazole(DB01026)|Sertaconazole(DB01153)|Tioconazole(DB01007)	TCTAAATAACATTTTTTTTGAA	0.396																																					GBM(70;1100 1190 11592 25836 51397)	ENST00000003100.8																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10						c.(1024-1029)aagttafs		cytochrome P450, family 51, subfamily A, polypeptide 1	Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)		,	0,4264		0,0,2132					,	5.6	1.0			121	1,8253		0,1,4126	no	frameshift,frameshift	CYP51A1	NM_001146152.1,NM_000786.3	,	0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080	,	,		1,12517				SO:0001589	frameshift_variant	1595				cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity	g.chr7:91752493_91752494insT	U51685	CCDS5623.1, CCDS55123.1	7q21.2	2012-10-10	2003-02-14	2003-02-28	ENSG00000001630	ENSG00000001630		"""Cytochrome P450s"""	2649	protein-coding gene	gene with protein product		601637	"""cytochrome P450, 51 (lanosterol 14-alpha-demethylase)"""	CYP51		8975714	Standard	NM_000786		Approved	CP51, CYPL1, P450L1, LDM, P450-14DM	uc003ulm.4	Q16850	OTTHUMG00000131131	ENST00000003100.8:c.1027dupA	7.37:g.91752501_91752501dupT	ENSP00000003100:p.Cys343fs					CYP51A1_ENST00000450723.1_Frame_Shift_Ins_p.L238fs|LRRD1_ENST00000422722.1_5'UTR	p.L343fs	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		7	1191_1192	-	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		337					A4D1F8|B2RAI4|B4DJ55|O00770|O00772|Q16784|Q8N1A8|Q99868	Frame_Shift_Ins	INS	ENST00000003100.8	37	c.1026_1027insA	CCDS5623.1																																																																																				0.396	CYP51A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253812.4			78	178						78	178	---	---	---	---
ADAM28	10863	broad.mit.edu	37	8	24167472	24167473	+	Frame_Shift_Ins	INS	-	-	A	rs570442888	byFrequency	TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr8:24167472_24167473insA	ENST00000265769.4	+	3	326_327	c.216_217insA	c.(217-219)aaafs	p.K73fs	RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000540823.1_5'UTR|ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000437154.2_Frame_Shift_Ins_p.K73fs|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	73					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N75fs*15(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGCTTTATTTGAAAAAAAACAA	0.332													AAAAAAAA|AAAAAAAA|AAAAAAAAA|insertion	2	0.000399361	0.0	0.0	5008	,	,		18919	0.0		0.0	False		,,,				2504	0.002				NSCLC(193;488 2149 22258 34798 40734)	ENST00000265769.4																			1	Insertion - Frameshift(1)	p.N75fs*15(1)	large_intestine(1)	central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(214-219)ttaaaafs		ADAM metallopeptidase domain 28																																				SO:0001589	frameshift_variant	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24167472_24167473insA	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.224dupA	8.37:g.24167480_24167480dupA	ENSP00000265769:p.Lys73fs					RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000540823.1_5'UTR|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000437154.2_Frame_Shift_Ins_p.LK72fs|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_5'UTR	p.LK72fs	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	3	326_327	+		Prostate(55;0.0959)	72					B2RMV5|Q9Y339|Q9Y3S0	Frame_Shift_Ins	INS	ENST00000265769.4	37	c.216_217insA	CCDS34865.1																																																																																				0.332	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		22	29						22	29	---	---	---	---
MROH5	389690	broad.mit.edu	37	8	142483606	142483606	+	RNA	DEL	G	G	-			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr8:142483606delG	ENST00000430863.1	-	0	1845					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		GAGGAAGGGCGGGGGGGAGTG	0.657																																						ENST00000430863.1																			0													maestro heat-like repeat family member 5																																						389690							g.chr8:142483606delG			8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142483606delG								NM_207414.2	NP_997297.2					0	1845	-									RNA	DEL	ENST00000430863.1	37																																																																																						0.657	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		2	4						2	4	---	---	---	---
KDM5A	5927	broad.mit.edu	37	12	416981	416981	+	Frame_Shift_Del	DEL	G	G	-			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr12:416981delG	ENST00000399788.2	-	23	3931	c.3569delC	c.(3568-3570)cctfs	p.P1190fs	KDM5A_ENST00000382815.4_Frame_Shift_Del_p.P1190fs	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1190			P -> A (in dbSNP:rs2229353).		chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TTTAGGAAGAGGAACACAGCT	0.448			T	NUP98	AML																																	ENST00000399788.2				Dom	yes		12	12p11	5927	T	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		0				NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						c.(3568-3570)ctfs		lysine (K)-specific demethylase 5A							132.0	128.0	129.0					12																	416981		1932	4137	6069	SO:0001589	frameshift_variant	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:416981delG		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.3569delC	12.37:g.416981delG	ENSP00000382688:p.Pro1190fs					KDM5A_ENST00000382815.4_Frame_Shift_Del_p.P1190fs	p.P1190fs	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN			23	3931	-			1190		P -> A (in dbSNP:rs2229353).			A8MV76|Q4LE72|Q86XZ1	Frame_Shift_Del	DEL	ENST00000399788.2	37	c.3569delC	CCDS41736.1																																																																																				0.448	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		37	192						37	192	---	---	---	---
TNFRSF1A	7132	broad.mit.edu	37	12	6438752	6438752	+	Frame_Shift_Del	DEL	T	T	-			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr12:6438752delT	ENST00000162749.2	-	10	1393	c.1094delA	c.(1093-1095)aacfs	p.N365fs	TNFRSF1A_ENST00000540022.1_Frame_Shift_Del_p.N322fs|TNFRSF1A_ENST00000437813.3_5'Flank	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	365	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						CGGGGGCACGTTCTCCACCAC	0.731																																						ENST00000162749.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						c.(1093-1095)acfs		tumor necrosis factor receptor superfamily, member 1A							15.0	16.0	16.0					12																	6438752		2198	4297	6495	SO:0001589	frameshift_variant	7132				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity	g.chr12:6438752delT	M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.1094delA	12.37:g.6438752delT	ENSP00000162749:p.Asn365fs					TNFRSF1A_ENST00000540022.1_Frame_Shift_Del_p.N322fs	p.N365fs	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN			10	1393	-			365			Death.		A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Frame_Shift_Del	DEL	ENST00000162749.2	37	c.1094delA	CCDS8542.1																																																																																				0.731	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399038.1	NM_001065		14	23						14	23	---	---	---	---
BAZ1A	11177	broad.mit.edu	37	14	35331380	35331381	+	Frame_Shift_Ins	INS	-	-	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr14:35331380_35331381insA	ENST00000382422.2	-	2	588_589	c.261_262insT	c.(259-264)attccafs	p.P88fs	BAZ1A_ENST00000553853.1_5'UTR|BAZ1A_ENST00000360310.1_Frame_Shift_Ins_p.P88fs|BAZ1A_ENST00000358716.4_Frame_Shift_Ins_p.P88fs			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	88	Required for association with the CHRAC1/POLE3 complex.|Required for interaction with NCOR1.|WAC. {ECO:0000255|PROSITE- ProRule:PRU00475}.				chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TATAAAACTGGAATAATTAGTG	0.406																																						ENST00000360310.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(259-264)atcagtfs		bromodomain adjacent to zinc finger domain, 1A																																				SO:0001589	frameshift_variant	11177				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	g.chr14:35331380_35331381insA	AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.262dupT	14.37:g.35331382_35331382dupA	ENSP00000371859:p.Pro88fs					BAZ1A_ENST00000382422.2_Frame_Shift_Ins_p.S88fs|BAZ1A_ENST00000358716.4_Frame_Shift_Ins_p.S88fs|BAZ1A_ENST00000553853.1_5'UTR	p.S88fs	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)	3	828_829	-	Breast(36;0.0388)|Hepatocellular(127;0.158)		88			Required for association with the CHRAC1/POLE3 complex.|Required for interaction with NCOR1.|WAC.		Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Frame_Shift_Ins	INS	ENST00000382422.2	37	c.261_262insT	CCDS9651.1																																																																																				0.406	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1			586	149						586	149	---	---	---	---
LINC00639	283547	broad.mit.edu	37	14	39304293	39304296	+	lincRNA	DEL	CACA	CACA	-	rs5808014|rs370723884|rs3064863|rs552023434|rs59320730|rs368814507	byFrequency	TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr14:39304293_39304296delCACA	ENST00000553932.1	-	0	3985									long intergenic non-protein coding RNA 639																		CGCCCTGCTCcacacacacacaca	0.475																																						ENST00000553932.1																			0																																																			283547							g.chr14:39304293_39304296delCACA	AK125018, AK127318, BC035119		14q21.1	2012-10-12			ENSG00000259070	ENSG00000259070		"""Long non-coding RNAs"""	27502	non-coding RNA	RNA, long non-coding							Standard	NR_039982		Approved		uc001wun.3		OTTHUMG00000170746		14.37:g.39304301_39304304delCACA														0	3985	-									RNA	DEL	ENST00000553932.1	37																																																																																						0.475	LINC00639-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000410191.1	NR_039982		3	3						3	3	---	---	---	---
DNAAF2	55172	broad.mit.edu	37	14	50092638	50092639	+	Frame_Shift_Ins	INS	-	-	A			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr14:50092638_50092639insA	ENST00000298292.8	-	3	2215_2216	c.2135_2136insT	c.(2134-2136)atafs	p.I712fs	RP11-649E7.5_ENST00000555043.1_RNA|DNAAF2_ENST00000406043.3_Frame_Shift_Ins_p.I664fs	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	712					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)				kidney(1)|lung(4)	5						CTTTAACTGCTATAGATGAATC	0.342																																						ENST00000298292.8																			0				kidney(1)|lung(4)	5						c.(2134-2136)agcfs		dynein, axonemal, assembly factor 2																																				SO:0001589	frameshift_variant	55172				axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm		g.chr14:50092638_50092639insA	AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"""kintoun"""	612517	"""chromosome 14 open reading frame 104"""	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.2136dupT	14.37:g.50092639_50092639dupA	ENSP00000298292:p.Ile712fs					DNAAF2_ENST00000406043.3_Frame_Shift_Ins_p.S664fs	p.S712fs	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN			3	2215_2216	-			712					B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Frame_Shift_Ins	INS	ENST00000298292.8	37	c.2135_2136insT	CCDS9691.2																																																																																				0.342	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276813.1			20	97						20	97	---	---	---	---
SOX8	30812	broad.mit.edu	37	16	1032188	1032190	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chr16:1032188_1032190delGCG	ENST00000293894.3	+	1	381_383	c.266_268delGCG	c.(265-270)cgcggc>cgc	p.G94del	RP11-161M6.2_ENST00000565467.1_lincRNA	NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	94					adipose tissue development (GO:0060612)|astrocyte fate commitment (GO:0060018)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|enteric nervous system development (GO:0048484)|fat cell differentiation (GO:0045444)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of gliogenesis (GO:0014015)|positive regulation of kidney development (GO:0090184)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone levels (GO:0010817)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|ureter morphogenesis (GO:0072197)	cytoplasm (GO:0005737)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.G94delG(1)		central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				ATGCCGGTgcgcggcggcggcgg	0.729																																						ENST00000293894.3																			1	Deletion - In frame(1)	p.G94delG(1)	prostate(1)	central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10						c.(265-270)cgc>c		SRY (sex determining region Y)-box 8				56,2574		15,26,1274						3.1	1.0			3	200,5172		37,126,2523	no	coding	SOX8	NM_014587.3		52,152,3797	A1A1,A1R,RR		3.723,2.1293,3.1992				256,7746				SO:0001651	inframe_deletion	30812				adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus		g.chr16:1032188_1032190delGCG	AF164104	CCDS10428.1	16p13.3	2008-05-23			ENSG00000005513	ENSG00000005513		"""SRY (sex determining region Y)-boxes"""	11203	protein-coding gene	gene with protein product		605923				10662550, 10684944	Standard	NM_014587		Approved		uc002ckn.3	P57073	OTTHUMG00000122101	ENST00000293894.3:c.266_268delGCG	16.37:g.1032197_1032199delGCG	ENSP00000293894:p.Gly94del						p.RG89del	NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN			1	381_383	+		Hepatocellular(780;0.00308)	89					Q9NZW2	In_Frame_Del	DEL	ENST00000293894.3	37	c.266_268delGCG	CCDS10428.1																																																																																				0.729	SOX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242867.1			2	4						2	4	---	---	---	---
MAMLD1	10046	broad.mit.edu	37	X	149638187	149638187	+	Frame_Shift_Del	DEL	A	A	-			TCGA-T3-A92N-01A-11D-A391-08	TCGA-T3-A92N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40005278-5569-44a5-94a2-9311946aa7ca	8e5216b7-93fa-440f-bf1a-c304f42b98da	g.chrX:149638187delA	ENST00000370401.2	+	4	652	c.342delA	c.(340-342)acafs	p.T114fs	MAMLD1_ENST00000455522.2_5'Flank|MAMLD1_ENST00000262858.5_Frame_Shift_Del_p.T114fs|MAMLD1_ENST00000468306.1_3'UTR|MAMLD1_ENST00000426613.2_Frame_Shift_Del_p.T89fs|MAMLD1_ENST00000432680.2_Frame_Shift_Del_p.T89fs			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	114					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCATTGACAATAAATCCTA	0.493																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(340-342)acfs		mastermind-like domain containing 1							106.0	98.0	101.0					X																	149638187		2203	4300	6503	SO:0001589	frameshift_variant	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149638187delA	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.342delA	X.37:g.149638187delA	ENSP00000359428:p.Thr114fs					MAMLD1_ENST00000426613.2_Frame_Shift_Del_p.T89fs|MAMLD1_ENST00000262858.5_Frame_Shift_Del_p.T114fs|MAMLD1_ENST00000432680.2_Frame_Shift_Del_p.T89fs|MAMLD1_ENST00000468306.1_3'UTR	p.T114fs			Q13495	MAMD1_HUMAN			4	652	+	Acute lymphoblastic leukemia(192;6.56e-05)		114					B2RCQ4|B4DG93|B9EGA5	Frame_Shift_Del	DEL	ENST00000370401.2	37	c.342delA	CCDS14693.2																																																																																				0.493	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		74	22						74	22	---	---	---	---
