#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_IsAdjacentToRepeatRegion	i_IsMicroSat	i_MUTSIG_Published_Results	i_Mutation_Status	i_NumberOfSatRepeats	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_is_in_m2pon	i_refseq_mrna_id	i_secondary_variant_classification	i_site
LOC101927209	101927209	broad.mit.edu	37	1	142713518	142713519	+	lincRNA	INS	-	-	AGAT			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:142713518_142713519insAGAT	ENST00000610091.1	-	0	2139_2140																											TCACACTTTCACTGTGTTTACT	0.376																																						ENST00000369381.2		NA																	0					NA																																														0							g.chr1:142713518_142713519insAGAT																													1.37:g.142713518_142713519insAGAT		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	1086_1087	-			NA						RNA	INS	ENST00000610091.1	37																																																																																						0.376	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2	0			1:142713518
GPRC5A	9052	broad.mit.edu	37	12	13061419	13061420	+	Frame_Shift_Ins	INS	-	-	TGGC			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr12:13061419_13061420insTGGC	ENST00000014914.5	+	2	1126_1127	c.236_237insTGGC	c.(235-240)tttggcfs	p.-80fs	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, class C, group 5, member A						signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	TTGGGCATCTTTGGCCTCACCT	0.559																																						ENST00000014914.5		NA																	0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(235-240)tttggcfs		G protein-coupled receptor, family C, group 5, member A	Tretinoin(DB00755)																																			SO:0001589	frameshift_variant	0					cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity	g.chr12:13061419_13061420insTGGC	AF095448	CCDS8657.1	12p13-p12.3	2014-01-30	2014-01-30	2005-05-03		ENSG00000013588		"""GPCR / Class C : Orphans"""	9836	protein-coding gene	gene with protein product		604138	"""retinoic acid induced 3"", ""G protein-coupled receptor, family C, group 5, member A"""	RAI3, GPCR5A		9857033	Standard	NM_003979		Approved	RAIG1	uc001rba.3	Q8NFJ5		ENST00000014914.5:c.237_240dupTGGC	12.37:g.13061420_13061423dupTGGC	ENSP00000014914:p.Gly80fs	True	False		Somatic	1				GPRC5A_ENST00000542056.1_Intron	p.-80fs	NM_003979.3	NP_003970.1	WXS	Illumina HiSeq	Phase_I	Q8NFJ5	RAI3_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0708)	2	1126_1127	+		Prostate(47;0.141)	NA					B3KV45|O95357	Frame_Shift_Ins	INS	ENST00000014914.5	37	c.236_237insTGGC	CCDS8657.1																																																																																				0.559	GPRC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400682.1	0			12:13061419
ACSS3	79611	broad.mit.edu	37	12	81624902	81624902	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr12:81624902delC	ENST00000548058.1	+	12	2491	c.1581delC	c.(1579-1581)tacfs	p.Y527fs	ACSS3_ENST00000261206.3_Frame_Shift_Del_p.Y526fs|ACSS3_ENST00000548324.1_Frame_Shift_Del_p.Y209fs			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	527						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						AGCATTTATACTTTGAAAAAT	0.308																																						ENST00000548058.1		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						c.(1579-1581)tacfs		acyl-CoA synthetase short-chain family member 3							52.0	53.0	52.0					12																	81624902		2203	4298	6501	SO:0001589	frameshift_variant	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81624902delC		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.1581delC	12.37:g.81624902delC	ENSP00000449535:p.Tyr527fs	True	False		Somatic	1				ACSS3_ENST00000261206.3_Frame_Shift_Del_p.Y526fs|ACSS3_ENST00000548324.1_Frame_Shift_Del_p.Y209fs	p.Y527fs			WXS	Illumina HiSeq	Phase_I	Q9H6R3	ACSS3_HUMAN			12	2491	+			527					Q8NC66	Frame_Shift_Del	DEL	ENST00000548058.1	37	c.1581delC	CCDS9022.1																																																																																				0.308	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	0	NM_024560		12:81624902
LCE2A	353139	broad.mit.edu	37	1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	rs188756601|rs61812671|rs544324398|rs142857579|rs61812672|rs200927371|rs369853646|rs575236034	byFrequency	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization (GO:0031424)			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661																																						ENST00000368779.1		NA																	3	Deletion - In frame(2)|Substitution - coding silent(1)	p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)	liver(2)|large_intestine(1)	breast(1)|large_intestine(1)|liver(2)|lung(4)	8						c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc		late cornified envelope 2A																																				SO:0001651	inframe_deletion	353139				keratinization			g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG		CCDS1021.1	1q21.3	2008-02-05			ENSG00000187173	ENSG00000187173		"""Late cornified envelopes"""	29469	protein-coding gene	gene with protein product		612609				11698679	Standard	NM_178428		Approved	LEP9	uc001faj.3	Q5TA79	OTTHUMG00000012392	ENST00000368779.1:c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	1.37:g.152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENSP00000357768:p.Ser47_Cys60del	False	False		Somatic	1					p.SSGGCCGSSSGGCC47del	NM_178428.3	NP_848515.1	WXS	Illumina HiSeq	Phase_I	Q5TA79	LCE2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	189_230	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		47			Cys-rich.		A4QMZ9	In_Frame_Del	DEL	ENST00000368779.1	37	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CCDS1021.1																																																																																				0.661	LCE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034512.1	0	NM_178428		1:152671515
DNM1P46	196968	broad.mit.edu	37	15	100340239	100340241	+	RNA	DEL	TAT	TAT	-	rs200762313|rs200145736|rs202212587	byFrequency	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	TAT	TAT	-	-	TAT	TAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr15:100340239_100340241delTAT	ENST00000341853.1	-	0	685_687					NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										CAGGAGTGTCTATTTCTTCCCAC	0.635																																						ENST00000341853.1		NA																	0					NA												332,3314		25,282,1516							0.0			17	784,6018		39,706,2656	no	intergenic				64,988,4172	A1A1,A1R,RR		11.526,9.1059,10.6815				1116,9332						0							g.chr15:100340239_100340241delTAT	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.100340239_100340241delTAT		True	False		Somatic	1						NR_003260.1		WXS	Illumina HiSeq	Phase_I					0	685_687	-			NA					Q3ZCN3	RNA	DEL	ENST00000341853.1	37																																																																																						0.635	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	0	NR_003260		15:100340239
PSMC5	5705	broad.mit.edu	37	17	61902078	61902080	+	5'Flank	DEL	TCT	TCT	-	rs528345621	byFrequency	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	TCT	TCT	-	-	TCT	TCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr17:61902078_61902080delTCT	ENST00000310144.6	+	0	0				FTSJ3_ENST00000427159.2_In_Frame_Del_p.278_279EE>E|PSMC5_ENST00000580864.1_5'Flank|FTSJ3_ENST00000580295.1_5'Flank	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						CTGTGCCAACTCTTCATCATCTA	0.552																																						ENST00000427159.2		NA																	0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(832-837)gaagag>gag		FtsJ homolog 3 (E. coli)																																				SO:0001631	upstream_gene_variant	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61902078_61902080delTCT	L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195			17.37:g.61902078_61902080delTCT	Exception_encountered	False	False		Somatic	1					p.278_279EE>E	NM_017647.3	NP_060117.3	WXS	Illumina HiSeq	Phase_I	Q8IY81	RRMJ3_HUMAN			10	1479_1481	-			278	E -> I (in Ref. 1; AAL56015 and 2; BAA90924).				A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	In_Frame_Del	DEL	ENST00000310144.6	37	c.834_836delAGA	CCDS11645.1																																																																																				0.552	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	0	NM_002805		17:61902078
GPR50	9248	broad.mit.edu	37	X	150349558	150349569	+	In_Frame_Del	DEL	CACCACTGGCCA	CACCACTGGCCA	-	rs377556761|rs199797606|rs68058591|rs200787393		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	CACCACTGGCCA	CACCACTGGCCA	-	-	CACCACTGGCCA	CACCACTGGCCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chrX:150349558_150349569delCACCACTGGCCA	ENST00000218316.3	+	2	1572_1583	c.1503_1514delCACCACTGGCCA	c.(1501-1515)cccaccactggccac>ccc	p.TTGH502del	AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	502	Pro-rich.		Missing (lower fasting circulating triglyceride levels). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8647286, ECO:0000269|Ref.2}.		cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)	p.T502_H505delTTGH(1)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					ACCCTAAACCCACCACTGGCCACATCAAGCCA	0.608																																						ENST00000218316.3		NA																	1	Deletion - In frame(1)	p.T502_H505delTTGH(1)	ovary(1)	breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38						c.(1501-1515)cccaccactggccac>ccc		G protein-coupled receptor 50				1488,2015		315,617,241,554,290						2.6	0.0		dbSNP_130	100	2487,3842		404,1011,668,899,1033	no	coding	GPR50	NM_004224.3		719,1628,909,1453,1323	A1A1,A1R,A1,RR,R		39.2953,42.4779,40.4292				3975,5857				SO:0001651	inframe_deletion	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150349558_150349569delCACCACTGGCCA	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.1503_1514delCACCACTGGCCA	X.37:g.150349558_150349569delCACCACTGGCCA	ENSP00000218316:p.Thr502_His505del	False	False		Somatic	1					p.TTGH502del	NM_004224.3	NP_004215.2	WXS	Illumina HiSeq	Phase_I	Q13585	MTR1L_HUMAN			2	1572_1583	+	Acute lymphoblastic leukemia(192;6.56e-05)		502		Missing (lower fasting circulating triglyceride levels).	Pro-rich.		Q0VGG3|Q3ZAR0	In_Frame_Del	DEL	ENST00000218316.3	37	c.1503_1514delCACCACTGGCCA	CCDS44012.1																																																																																				0.608	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	0	NM_004224		X:150349558
CDKN2AIP	55602	broad.mit.edu	37	4	184367559	184367561	+	In_Frame_Del	DEL	CTG	CTG	-	rs398108445|rs147291711|rs10533201|rs201501817	byFrequency	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	CTG	CTG	-	-	CTG	CTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr4:184367559_184367561delCTG	ENST00000504169.1	+	3	929_931	c.722_724delCTG	c.(721-726)tctgca>tca	p.A242del	CDKN2AIP_ENST00000506835.1_3'UTR|CDKN2AIP_ENST00000302350.4_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	242	Ser-rich.			Missing (in Ref. 3; EAX04691 and 4; AAH22270). {ECO:0000305}.	negative regulation of cell growth (GO:0030308)|positive regulation of signal transduction (GO:0009967)|regulation of protein stability (GO:0031647)	cytoplasm (GO:0005737)|granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	p53 binding (GO:0002039)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AAACACGGTTCTGCATCATTTGT	0.458														1818	0.363019	0.1203	0.4164	5008	,	,		22238	0.244		0.7247	False		,,,				2504	0.4039					ENST00000504169.1		NA																	0				endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6						c.(721-726)tctgca>tca		CDKN2A interacting protein				915,3351		96,723,1314						1.2	0.8		dbSNP_134	82	6064,2190		2233,1598,296	no	coding	CDKN2AIP	NM_017632.2		2329,2321,1610	A1A1,A1R,RR		26.5326,21.4487,44.2572				6979,5541				SO:0001651	inframe_deletion	55602				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding	g.chr4:184367559_184367561delCTG	AK000043	CCDS34110.1	4q35.1	2008-02-05			ENSG00000168564	ENSG00000168564			24325	protein-coding gene	gene with protein product	"""collaborates/cooperates with ARF (alternate reading frame) protein"""	615914				12154087, 16803988	Standard	NM_017632		Approved	FLJ20036, CARF	uc003ivp.1	Q9NXV6	OTTHUMG00000160626	ENST00000504169.1:c.722_724delCTG	4.37:g.184367559_184367561delCTG	ENSP00000427108:p.Ala242del	False	False		Somatic	1				CDKN2AIP_ENST00000506835.1_3'UTR|CDKN2AIP_ENST00000302350.4_3'UTR	p.A242del	NM_017632.2	NP_060102.1	WXS	Illumina HiSeq	Phase_I	Q9NXV6	CARF_HUMAN		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	3	929_931	+		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	242	Missing (in Ref. 3; EAX04691 and 4; AAH22270).		Ser-rich.		Q8TBM5|Q9NYH0	In_Frame_Del	DEL	ENST00000504169.1	37	c.722_724delCTG	CCDS34110.1																																																																																				0.458	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361488.1	0	NM_017632		4:184367559
FNDC1	84624	broad.mit.edu	37	6	159655079	159655081	+	In_Frame_Del	DEL	GAC	GAC	-	rs547492676	byFrequency	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr6:159655079_159655081delGAC	ENST00000297267.9	+	11	3735_3737	c.3535_3537delGAC	c.(3535-3537)gacdel	p.D1180del	FNDC1_ENST00000340366.6_In_Frame_Del_p.D1117del	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1180			D -> E (in dbSNP:rs420054). {ECO:0000269|PubMed:11347906, ECO:0000269|PubMed:15489334}.		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)		CTCAGCCGAGGACGACGAGGAGG	0.65																																						ENST00000297267.9		NA																	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.(3535-3537)gacdel		fibronectin type III domain containing 1																																				SO:0001651	inframe_deletion	84624					extracellular region		g.chr6:159655079_159655081delGAC	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.3535_3537delGAC	6.37:g.159655082_159655084delGAC	ENSP00000297267:p.Asp1180del	False	False		Somatic	2				FNDC1_ENST00000340366.6_In_Frame_Del_p.D1117del	p.D1180del	NM_032532.2	NP_115921.2	WXS	Illumina HiSeq	Phase_I	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	3735_3737	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1180		D -> E (in dbSNP:rs420054).			A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	In_Frame_Del	DEL	ENST00000297267.9	37	c.3535_3537delGAC	CCDS47512.1																																																																																				0.650	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	0	NM_032532		6:159655079
AHR	196	broad.mit.edu	37	7	17379385	17379385	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:17379385delC	ENST00000242057.4	+	10	2579	c.1936delC	c.(1936-1938)caafs	p.Q646fs		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	646					apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	GAAGCACATGCAAGTTAATGG	0.418																																						ENST00000242057.4		NA																	0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33						c.(1936-1938)caafs		aryl hydrocarbon receptor							154.0	125.0	135.0					7																	17379385		2203	4300	6503	SO:0001589	frameshift_variant	196				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr7:17379385delC	L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"""Basic helix-loop-helix proteins"""	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.1936delC	7.37:g.17379385delC	ENSP00000242057:p.Gln646fs	False	False		Somatic	1					p.Q646fs	NM_001621.4	NP_001612.1	WXS	Illumina HiSeq	Phase_I	P35869	AHR_HUMAN			10	2579	+	Lung NSC(10;0.0392)|all_lung(11;0.0754)		646					A4D130|Q13728|Q13803|Q13804	Frame_Shift_Del	DEL	ENST00000242057.4	37	c.1936delC	CCDS5366.1																																																																																				0.418	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	0	NM_001621		7:17379385
DTX2P1-UPK3BP1-PMS2P11	441263	broad.mit.edu	37	7	76652976	76652977	+	RNA	INS	-	-	TA			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:76652976_76652977insTA	ENST00000584900.1	+	0	1534_1535					NR_023383.1				DTX2P1-UPK3BP1-PMS2P11 readthrough transcribed pseudogene																		GTATTCAGCTCCATCAAGAATG	0.475																																						ENST00000584900.1		NA																	0					NA																																														0							g.chr7:76652976_76652977insTA	U38980		7q11.23	2014-09-10	2012-12-07		ENSG00000265479	ENSG00000265479			42360	other	readthrough			"""DTX2P1-UPK3BP1-PMS2P11 readthrough (non-protein coding)"""				Standard	NR_023383		Approved		uc003ufw.4		OTTHUMG00000179528		7.37:g.76652976_76652977insTA		False	False		Somatic	0						NR_023383.1		WXS	Illumina HiSeq	Phase_I					0	1534_1535	+			NA						RNA	INS	ENST00000584900.1	37																																																																																						0.475	DTX2P1-UPK3BP1-PMS2P11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000446923.2	0	NR_023383		7:76652976
LZTS1	11178	broad.mit.edu	37	8	20107683	20107730	+	In_Frame_Del	DEL	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	-	rs372940217|rs141716809|rs373668156|rs148039718	byFrequency	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	-	-	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr8:20107683_20107730delCAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	ENST00000381569.1	-	4	1651_1698	c.1294_1341delAGGACCCAGGACCTGGAGGGCGCCCTGCGCACCAAGGGCCTGGAGCTG	c.(1294-1341)aggacccaggacctggagggcgccctgcgcaccaagggcctggagctgdel	p.RTQDLEGALRTKGLEL432del	LZTS1_ENST00000265801.6_In_Frame_Del_p.RTQDLEGALRTKGLEL432del|LZTS1_ENST00000522290.1_In_Frame_Del_p.RTQDLEGALRTKGLEL432del			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	432					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CACAGACCTCCAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCTCAGCTCCAGG	0.657																																						ENST00000381569.1		NA																	0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(1294-1341)aggacccaggacctggagggcgccctgcgcaccaagggcctggagctgdel		leucine zipper, putative tumor suppressor 1																																				SO:0001651	inframe_deletion	11178				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:20107683_20107730delCAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.1294_1341delAGGACCCAGGACCTGGAGGGCGCCCTGCGCACCAAGGGCCTGGAGCTG	8.37:g.20107683_20107730delCAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	ENSP00000370981:p.Arg432_Leu447del	True	False		Somatic	1				LZTS1_ENST00000265801.6_In_Frame_Del_p.RTQDLEGALRTKGLEL432del|LZTS1_ENST00000522290.1_In_Frame_Del_p.RTQDLEGALRTKGLEL432del	p.RTQDLEGALRTKGLEL432del			WXS	Illumina HiSeq	Phase_I	Q9Y250	LZTS1_HUMAN		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	4	1651_1698	-			432					D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	In_Frame_Del	DEL	ENST00000381569.1	37	c.1294_1341delAGGACCCAGGACCTGGAGGGCGCCCTGCGCACCAAGGGCCTGGAGCTG	CCDS6015.1																																																																																				0.657	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	0	NM_021020		8:20107683
EHMT1	79813	broad.mit.edu	37	9	140695429	140695430	+	Frame_Shift_Del	DEL	GA	GA	-	rs377070695		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	GA	GA	-	-	GA	GA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr9:140695429_140695430delGA	ENST00000460843.1	+	18	2732_2733	c.2705_2706delGA	c.(2704-2706)cgafs	p.R902fs		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	902					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		ATCAACATCCGAGACAACGTAA	0.589																																						ENST00000460843.1		NA																	0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(2704-2706)cgafs		euchromatic histone-lysine N-methyltransferase 1																																				SO:0001589	frameshift_variant	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140695429_140695430delGA	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.2705_2706delGA	9.37:g.140695431_140695432delGA	ENSP00000417980:p.Arg902fs	False	False		Somatic	2					p.R902fs	NM_024757.4	NP_079033.4	WXS	Illumina HiSeq	Phase_I	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	18	2732_2733	+	all_cancers(76;0.164)		902					B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Frame_Shift_Del	DEL	ENST00000460843.1	37	c.2705_2706delGA	CCDS7050.2																																																																																				0.589	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	0	NM_024757		9:140695429
TP53	7157	broad.mit.edu	37	17	7577520	7577520	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr17:7577520A>C	ENST00000269305.4	-	7	950	c.761T>G	c.(760-762)aTc>aGc	p.I254S	TP53_ENST00000413465.2_Missense_Mutation_p.I254S|TP53_ENST00000455263.2_Missense_Mutation_p.I254S|TP53_ENST00000445888.2_Missense_Mutation_p.I254S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.I254S|TP53_ENST00000359597.4_Missense_Mutation_p.I254S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	254	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		I -> D (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|I -> F (in a sporadic cancer; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> M (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.I254S(6)|p.L252_I254delLTI(4)|p.I254T(3)|p.I254N(3)|p.I254D(3)|p.T253_I255del(2)|p.I254del(2)|p.?(1)|p.I254fs*7(1)|p.I254_T256del(1)|p.R249_T256delRPILTIIT(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGTGTGATGATGGTGAGGAT	0.587		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		35	Substitution - Missense(15)|Deletion - In frame(10)|Whole gene deletion(8)|Deletion - Frameshift(1)|Unknown(1)	p.0?(8)|p.I254S(6)|p.L252_I254delLTI(4)|p.I254T(3)|p.I254N(3)|p.I254D(3)|p.T253_I255del(2)|p.I254del(2)|p.?(1)|p.I254fs*7(1)|p.I254_T256del(1)|p.R249_T256delRPILTIIT(1)	haematopoietic_and_lymphoid_tissue(9)|large_intestine(7)|bone(4)|central_nervous_system(3)|stomach(2)|oesophagus(2)|breast(2)|ovary(2)|endometrium(1)|skin(1)|lung(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(760-762)aTc>aGc	Other conserved DNA damage response genes	tumor protein p53							148.0	106.0	120.0					17																	7577520		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577520A>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.761T>G	17.37:g.7577520A>C	ENSP00000269305:p.Ile254Ser	False	False	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	Somatic	0				TP53_ENST00000359597.4_Missense_Mutation_p.I254S|TP53_ENST00000413465.2_Missense_Mutation_p.I254S|TP53_ENST00000445888.2_Missense_Mutation_p.I254S|TP53_ENST00000455263.2_Missense_Mutation_p.I254S|TP53_ENST00000269305.4_Missense_Mutation_p.I254S	p.I254S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina HiSeq	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	893	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	254		I -> D (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|I -> F (in a sporadic cancer; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> M (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.761T>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	17.59	3.426944	0.62733	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99841	-7.09;-7.09;-7.09;-7.09;-7.09;-7.09;-7.09	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99771	0.9906	M	0.84219	2.685	0.80722	D	1	D;P;D;D;D	0.89917	1.0;0.951;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.968;1.0;1.0;0.997	D	0.96936	0.9684	10	0.87932	D	0	-30.4212	12.3101	0.54924	1.0:0.0:0.0:0.0	.	254;254;254;254;254	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	S	254;254;254;254;254;254;243;122	ENSP00000410739:I254S;ENSP00000352610:I254S;ENSP00000269305:I254S;ENSP00000398846:I254S;ENSP00000391127:I254S;ENSP00000391478:I254S;ENSP00000425104:I122S	ENSP00000269305:I254S	I	-	2	0	TP53	7518245	1.000000	0.71417	1.000000	0.80357	0.372000	0.29890	9.087000	0.94110	2.074000	0.62210	0.379000	0.24179	ATC		0.587	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7577520
ZMYND8	23613	broad.mit.edu	37	20	45839477	45839477	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr20:45839477C>T	ENST00000311275.7	-	22	3743	c.3490G>A	c.(3490-3492)Gat>Aat	p.D1164N	ZMYND8_ENST00000540497.1_Missense_Mutation_p.D1112N|ZMYND8_ENST00000461685.1_Missense_Mutation_p.D1166N|ZMYND8_ENST00000446994.2_Missense_Mutation_p.D1083N|ZMYND8_ENST00000355972.4_Missense_Mutation_p.D1192N|ZMYND8_ENST00000471951.2_Missense_Mutation_p.D1212N|ZMYND8_ENST00000262975.4_Missense_Mutation_p.D1146N|ZMYND8_ENST00000536340.1_Missense_Mutation_p.D1219N|ZMYND8_ENST00000352431.2_Missense_Mutation_p.D1138N|ZMYND8_ENST00000372023.3_Missense_Mutation_p.D1114N|ZMYND8_ENST00000458360.2_Missense_Mutation_p.D1032N|ZMYND8_ENST00000396281.4_Missense_Mutation_p.D1164N|ZMYND8_ENST00000360911.3_Missense_Mutation_p.D1113N	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	1164	Interacts with PRKCB1.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GTGTTGTGATCGGAACGTGTC	0.547																																						ENST00000311275.7		NA																	0				NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62						c.(3490-3492)Gat>Aat		zinc finger, MYND-type containing 8							207.0	179.0	188.0					20																	45839477		2203	4300	6503	SO:0001583	missense	23613						protein binding|zinc ion binding	g.chr20:45839477C>T	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.3490G>A	20.37:g.45839477C>T	ENSP00000312237:p.Asp1164Asn	False	False		Somatic	0				ZMYND8_ENST00000446994.2_Missense_Mutation_p.D1083N|ZMYND8_ENST00000372023.3_Missense_Mutation_p.D1114N|ZMYND8_ENST00000352431.2_Missense_Mutation_p.D1138N|ZMYND8_ENST00000458360.2_Missense_Mutation_p.D1032N|ZMYND8_ENST00000355972.4_Missense_Mutation_p.D1192N|ZMYND8_ENST00000536340.1_Missense_Mutation_p.D1219N|ZMYND8_ENST00000540497.1_Missense_Mutation_p.D1112N|ZMYND8_ENST00000396281.4_Missense_Mutation_p.D1164N|ZMYND8_ENST00000471951.2_Missense_Mutation_p.D1212N|ZMYND8_ENST00000262975.4_Missense_Mutation_p.D1146N|ZMYND8_ENST00000360911.3_Missense_Mutation_p.D1113N|ZMYND8_ENST00000461685.1_Missense_Mutation_p.D1166N	p.D1164N	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	WXS	Illumina HiSeq	Phase_I	Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		22	3743	-			1164			Interacts with PRKCB1.		B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37	c.3490G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.40|12.40	1.926139|1.926139	0.34002|0.34002	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497|ENST00000467200	D;D;D;D;D;D;D;D;D;D;D|.	0.90444|.	-1.72;-1.6;-1.72;-1.61;-1.71;-1.7;-1.69;-2.67;-1.71;-1.84;-1.72|.	4.86|4.86	4.86|4.86	0.63082|0.63082	.|.	0.398191|.	0.22055|.	N|.	0.065245|.	T|T	0.35098|0.35098	0.0920|0.0920	N|N	0.22421|0.22421	0.69|0.69	0.20926|0.20926	N|N	0.999822|0.999822	B;P;B;P;B;B;B;B;B;B;B;P;P;B;P|.	0.42409|.	0.002;0.482;0.074;0.482;0.233;0.001;0.373;0.233;0.305;0.305;0.305;0.555;0.779;0.0;0.555|.	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B|.	0.40066|.	0.0;0.152;0.014;0.152;0.038;0.002;0.052;0.072;0.045;0.045;0.032;0.033;0.318;0.001;0.033|.	T|T	0.20739|0.20739	-1.0266|-1.0266	10|5	0.72032|.	D|.	0.01|.	4.4285|4.4285	12.7927|12.7927	0.57543|0.57543	0.0:0.9207:0.0:0.0793|0.0:0.9207:0.0:0.0793	.|.	1032;1219;1114;1212;1146;1113;1138;1166;1164;1083;1141;1112;1085;1066;1164|.	B7ZM62;F5H0X3;Q2HXV3;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8|.	.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.|.	N|Q	1113;1164;1032;1147;1213;1138;1164;1219;1192;1083;1166;1114;1112|1073	ENSP00000354166:D1113N;ENSP00000312237:D1164N;ENSP00000392964:D1032N;ENSP00000335537:D1138N;ENSP00000379577:D1164N;ENSP00000439800:D1219N;ENSP00000348246:D1192N;ENSP00000396725:D1083N;ENSP00000418210:D1166N;ENSP00000361093:D1114N;ENSP00000443086:D1112N|.	ENSP00000262975:D1147N|.	D|R	-|-	1|2	0|0	ZMYND8|ZMYND8	45272884|45272884	1.000000|1.000000	0.71417|0.71417	0.959000|0.959000	0.39883|0.39883	0.036000|0.036000	0.12997|0.12997	3.683000|3.683000	0.54663|0.54663	2.399000|2.399000	0.81585|0.81585	0.462000|0.462000	0.41574|0.41574	GAT|CGA		0.547	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	0	NM_183047		20:45839477
DCSTAMP	81501	broad.mit.edu	37	8	105360959	105360959	+	Missense_Mutation	SNP	C	C	T	rs138578884		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr8:105360959C>T	ENST00000297581.2	+	2	228	c.179C>T	c.(178-180)gCg>gTg	p.A60V	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Missense_Mutation_p.A60V	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	60	Poly-Ala. {ECO:0000255}.				cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											TCAATCATAGCGGCCGCTGCC	0.498																																						ENST00000297581.2		NA																	0					NA						c.(178-180)gCg>gTg		dendrocyte expressed seven transmembrane protein		C	VAL/ALA	3,4403	6.2+/-15.9	0,3,2200	134.0	123.0	126.0		179	-0.8	0.0	8	dbSNP_134	126	0,8600		0,0,4300	no	missense	TM7SF4	NM_030788.2	64	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign	60/471	105360959	3,13003	2203	4300	6503	SO:0001583	missense	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105360959C>T	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.179C>T	8.37:g.105360959C>T	ENSP00000297581:p.Ala60Val	False	False		Somatic	0				DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Missense_Mutation_p.A60V	p.A60V	NM_030788.3	NP_110415.1	WXS	Illumina HiSeq	Phase_I	Q9H295	TM7S4_HUMAN			2	228	+			60			Poly-Ala.		B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	ENST00000297581.2	37	c.179C>T	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	C	5.934	0.356388	0.11239	6.81E-4	0.0	ENSG00000164935	ENST00000297581;ENST00000517991	T	0.28666	1.6	5.73	-0.836	0.10770	.	1.038190	0.07556	N	0.916197	T	0.09335	0.0230	N	0.00926	-1.1	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.34850	-0.9812	9	.	.	.	-4.7036	7.2542	0.26166	0.0:0.2685:0.1157:0.6158	.	60	Q9H295	TM7S4_HUMAN	V	60	ENSP00000297581:A60V	.	A	+	2	0	TM7SF4	105430135	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.127000	0.10547	-0.366000	0.08064	-0.126000	0.14955	GCG		0.498	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	0	NM_030788		8:105360959
SIRPB1	10326	broad.mit.edu	37	20	1592049	1592049	+	Intron	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr20:1592049G>A	ENST00000381605.4	-	1	141				RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000568365.1_Silent_p.D129D|SIRPB1_ENST00000279477.7_Silent_p.D129D|SIRPB1_ENST00000381603.3_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						ACTCCACGTGGTCGGGGCTCC	0.522																																						ENST00000279477.7		NA																	0				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(385-387)gaC>gaT		signal-regulatory protein beta 1							83.0	96.0	93.0					20																	1592049		329	1084	1413	SO:0001627	intron_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1592049G>A	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+8465C>T	20.37:g.1592049G>A		False	False		Somatic	0				RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000568365.1_Silent_p.D129D|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000381605.4_Intron	p.D129D	NM_001135844.2	NP_001129316.1	WXS	Illumina HiSeq	Phase_I	O00241	SIRB1_HUMAN			2	451	-			129			Ig-like V-type.		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Silent	SNP	ENST00000381605.4	37	c.387C>T	CCDS13019.1																																																																																				0.522	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	0	NM_006065		20:1592049
GUCY2F	2986	broad.mit.edu	37	X	108718972	108718972	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chrX:108718972G>A	ENST00000218006.2	-	2	485	c.194C>T	c.(193-195)tCg>tTg	p.S65L		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	65					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TGAAAACAGCGAATCACAAGC	0.532											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000218006.2		NA																	0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						c.(193-195)tCg>tTg		guanylate cyclase 2F, retinal							74.0	64.0	67.0					X																	108718972		2203	4300	6503	SO:0001583	missense	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108718972G>A	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.194C>T	X.37:g.108718972G>A	ENSP00000218006:p.Ser65Leu	False	False		Somatic	0	OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1414		p.S65L	NM_001522.2	NP_001513.2	WXS	Illumina HiSeq	Phase_I	P51841	GUC2F_HUMAN			2	485	-			65					Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	c.194C>T	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.976156	0.34848	.	.	ENSG00000101890	ENST00000218006	T	0.73152	-0.72	4.95	3.15	0.36227	.	0.187399	0.47852	D	0.000202	T	0.37839	0.1018	N	0.02539	-0.55	0.26327	N	0.977573	B	0.02656	0.0	B	0.01281	0.0	T	0.21586	-1.0241	10	0.11794	T	0.64	.	6.7942	0.23717	0.0986:0.0:0.7215:0.1799	.	65	P51841	GUC2F_HUMAN	L	65	ENSP00000218006:S65L	ENSP00000218006:S65L	S	-	2	0	GUCY2F	108605628	1.000000	0.71417	0.773000	0.31616	0.757000	0.42996	3.428000	0.52792	1.182000	0.42928	0.600000	0.82982	TCG		0.532	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	0	NM_001522		X:108718972
ZHX3	23051	broad.mit.edu	37	20	39830760	39830760	+	Missense_Mutation	SNP	G	G	A	rs148495510		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr20:39830760G>A	ENST00000309060.3	-	4	3212	c.2797C>T	c.(2797-2799)Cgt>Tgt	p.R933C	ZHX3_ENST00000560361.1_Missense_Mutation_p.R933C|ZHX3_ENST00000540170.1_Missense_Mutation_p.R933C|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000432768.2_Missense_Mutation_p.R933C|ZHX3_ENST00000544979.2_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000559234.1_Missense_Mutation_p.R933C			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	933					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				TCAGGGACACGGGGCTCCCAC	0.597																																						ENST00000309060.3		NA																	0				endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2797-2799)Cgt>Tgt		zinc fingers and homeoboxes 3		T	CYS/ARG	0,4406		0,0,2203	91.0	83.0	85.0		2797	-2.4	0.0	20	dbSNP_134	85	1,8599		0,1,4299	no	missense	ZHX3	NM_015035.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	933/957	39830760	1,13005	2203	4300	6503	SO:0001583	missense	23051				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39830760G>A	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.2797C>T	20.37:g.39830760G>A	ENSP00000312222:p.Arg933Cys	True	False		Somatic	0				ZHX3_ENST00000560361.1_Missense_Mutation_p.R933C|ZHX3_ENST00000540170.1_Missense_Mutation_p.R933C|ZHX3_ENST00000432768.2_Missense_Mutation_p.R933C|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Intron|ZHX3_ENST00000559234.1_Missense_Mutation_p.R933C|ZHX3_ENST00000558993.1_Intron	p.R933C			WXS	Illumina HiSeq	Phase_I	Q9H4I2	ZHX3_HUMAN			4	3212	-		Myeloproliferative disorder(115;0.00425)	933					E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	ENST00000309060.3	37	c.2797C>T	CCDS13315.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.58|16.58	3.162238|3.162238	0.57368|0.57368	0.0|0.0	1.16E-4|1.16E-4	ENSG00000174306|ENSG00000174306	ENST00000421422|ENST00000309060;ENST00000373263;ENST00000540170;ENST00000373262	T|T;T	0.09817|0.10477	2.94|2.87;2.87	6.02|6.02	-2.37|-2.37	0.06643|0.06643	.|.	.|1.070770	.|0.07293	.|N	.|0.872760	T|T	0.03695|0.03695	0.0105|0.0105	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|P;P	.|0.40000	.|0.698;0.698	.|B;B	.|0.27796	.|0.083;0.083	T|T	0.28996|0.28996	-1.0026|-1.0026	7|10	0.56958|0.59425	D|D	0.05|0.04	2.5672|2.5672	3.3151|3.3151	0.07030|0.07030	0.1075:0.3462:0.33:0.2163|0.1075:0.3462:0.33:0.2163	.|.	.|933;933	.|A8K8Q0;Q9H4I2	.|.;ZHX3_HUMAN	L|C	641|933;933;933;711	ENSP00000405421:P641L|ENSP00000362360:R933C;ENSP00000442290:R933C	ENSP00000405421:P641L|ENSP00000312222:R933C	P|R	-|-	2|1	0|0	ZHX3|ZHX3	39264174|39264174	.|.	.|.	0.004000|0.004000	0.12327|0.12327	0.942000|0.942000	0.58702|0.58702	.|.	.|.	-1.152000|-1.152000	0.02832|0.02832	-0.256000|-0.256000	0.11100|0.11100	CCG|CGT		0.597	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	0	NM_015035		20:39830760
AMPD3	272	broad.mit.edu	37	11	10518392	10518392	+	Silent	SNP	C	C	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:10518392C>T	ENST00000396554.3	+	10	1832	c.1491C>T	c.(1489-1491)aaC>aaT	p.N497N	AMPD3_ENST00000444303.2_Silent_p.N329N	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	488					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		TGCTGCCAAACTTTGGGAAGA	0.502																																						ENST00000444303.2		NA																	0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25						c.(985-987)aaC>aaT		adenosine monophosphate deaminase 3							131.0	116.0	121.0					11																	10518392		2201	4294	6495	SO:0001819	synonymous_variant	272				AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr11:10518392C>T	M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"""erythrocyte-specific AMP deaminase"""	102772	"""adenosine monophosphate deaminase (isoform E)"""			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.1491C>T	11.37:g.10518392C>T		True	False		Somatic	0				AMPD3_ENST00000396554.3_Silent_p.N497N	p.N329N	NM_001172431.1	NP_001165902.1	WXS	Illumina HiSeq	Phase_I	Q01432	AMPD3_HUMAN		all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)	9	1459	+			488					A0AUX0|B7Z2S2|B7Z763|B7Z877	Silent	SNP	ENST00000396554.3	37	c.987C>T	CCDS7802.1																																																																																				0.502	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	0	NM_000480		11:10518392
TMEM18	129787	broad.mit.edu	37	2	669842	669842	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr2:669842G>A	ENST00000281017.3	-	4	335	c.242C>T	c.(241-243)tCg>tTg	p.S81L	TMEM18_ENST00000405941.3_Missense_Mutation_p.S84L|TMEM18_ENST00000355654.2_Missense_Mutation_p.S68L	NM_152834.2	NP_690047.2	Q96B42	TMM18_HUMAN	transmembrane protein 18	81					cell migration (GO:0016477)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(7)|ovary(1)	10	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		CTGGTATTTCGAAAATAATCT	0.368																																						ENST00000281017.3		NA																	0				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)	10						c.(241-243)tCg>tTg		transmembrane protein 18							44.0	46.0	45.0					2																	669842		2203	4300	6503	SO:0001583	missense	129787				cell migration	integral to membrane|nuclear membrane		g.chr2:669842G>A	AL137269	CCDS33141.1	2p25.3	2008-02-05			ENSG00000151353	ENSG00000151353			25257	protein-coding gene	gene with protein product		613220				12477932	Standard	NM_152834		Approved	DKFZp434C1714	uc002qwl.3	Q96B42	OTTHUMG00000151381	ENST00000281017.3:c.242C>T	2.37:g.669842G>A	ENSP00000281017:p.Ser81Leu	True	False		Somatic	0				TMEM18_ENST00000355654.2_Missense_Mutation_p.S68L|TMEM18_ENST00000405941.3_Missense_Mutation_p.S84L	p.S81L	NM_152834.2	NP_690047.2	WXS	Illumina HiSeq	Phase_I	Q96B42	TMM18_HUMAN		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)	4	335	-	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)	81					D6W4X9|Q8N5H2|Q9NTH3	Missense_Mutation	SNP	ENST00000281017.3	37	c.242C>T	CCDS33141.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731026	0.69074	.	.	ENSG00000151353	ENST00000281017;ENST00000355654;ENST00000405941	.	.	.	5.7	5.7	0.88788	.	0.118870	0.64402	D	0.000015	T	0.79203	0.4406	M	0.88979	2.995	0.80722	D	1	D	0.76494	0.999	P	0.58172	0.834	T	0.82034	-0.0657	9	0.52906	T	0.07	-8.7508	15.4029	0.74855	0.0:0.0:1.0:0.0	.	81	Q96B42	TMM18_HUMAN	L	81;68;84	.	ENSP00000281017:S81L	S	-	2	0	TMEM18	659842	1.000000	0.71417	0.401000	0.26359	0.148000	0.21650	8.083000	0.89515	2.705000	0.92388	0.549000	0.68633	TCG		0.368	TMEM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322427.1	0	NM_152834		2:669842
SVEP1	79987	broad.mit.edu	37	9	113205879	113205879	+	Missense_Mutation	SNP	C	C	A	rs201343948	byFrequency	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr9:113205879C>A	ENST00000401783.2	-	27	4921	c.4585G>T	c.(4585-4587)Gat>Tat	p.D1529Y	SVEP1_ENST00000302728.8_Missense_Mutation_p.D1529Y|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.D1506Y	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1529	Pentaxin.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AATTTCCCATCGATATAGACT	0.438																																						ENST00000401783.2		NA																	0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(4585-4587)Gat>Tat		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							78.0	82.0	81.0					9																	113205879		1947	4149	6096	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113205879C>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.4585G>T	9.37:g.113205879C>A	ENSP00000384917:p.Asp1529Tyr	False	False		Somatic	0				SVEP1_ENST00000302728.8_Missense_Mutation_p.D1529Y|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.D1506Y	p.D1529Y	NM_153366.3	NP_699197.3	WXS	Illumina HiSeq	Phase_I	Q4LDE5	SVEP1_HUMAN			27	4921	-			1529			Pentaxin.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.4585G>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150519	0.78001	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	T;T;T	0.81415	-0.5;-0.5;-1.49	5.46	5.46	0.80206	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.048935	0.85682	D	0.000000	D	0.93478	0.7919	H	0.96080	3.765	0.45216	D	0.998223	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.95016	0.8156	10	0.87932	D	0	.	19.6743	0.95924	0.0:1.0:0.0:0.0	.	1529;1529	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	Y	1529;1506;1529	ENSP00000384917:D1529Y;ENSP00000363593:D1506Y;ENSP00000304118:D1529Y	ENSP00000304118:D1529Y	D	-	1	0	SVEP1	112245700	1.000000	0.71417	0.982000	0.44146	0.866000	0.49608	5.576000	0.67437	2.721000	0.93114	0.655000	0.94253	GAT		0.438	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0			9:113205879
PODXL2	50512	broad.mit.edu	37	3	127387409	127387409	+	Silent	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr3:127387409G>A	ENST00000342480.6	+	5	1371	c.1332G>A	c.(1330-1332)caG>caA	p.Q444Q		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	444					leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						AGAAGGAGCAGCACCTTCTCA	0.687																																						ENST00000342480.6		NA																	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						c.(1330-1332)caG>caA		podocalyxin-like 2							23.0	21.0	21.0					3																	127387409		2202	4298	6500	SO:0001819	synonymous_variant	50512				leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding	g.chr3:127387409G>A	AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"""endoglycan"""					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.1332G>A	3.37:g.127387409G>A		False	False		Somatic	0					p.Q444Q	NM_015720.2	NP_056535.1	WXS	Illumina HiSeq	Phase_I	Q9NZ53	PDXL2_HUMAN			5	1371	+			444					Q6UVY4|Q8WUV6	Silent	SNP	ENST00000342480.6	37	c.1332G>A	CCDS3044.1																																																																																				0.687	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356638.1	0	NM_015720		3:127387409
CCNK	8812	broad.mit.edu	37	14	99968673	99968673	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr14:99968673G>A	ENST00000389879.5	+	7	828	c.705G>A	c.(703-705)tgG>tgA	p.W235*	CCNK_ENST00000557165.1_3'UTR|CCNK_ENST00000555049.1_Nonsense_Mutation_p.W235*	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	235					cellular response to DNA damage stimulus (GO:0006974)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of cell cycle arrest (GO:0071157)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cyclin K-CDK12 complex (GO:0002944)|cyclin K-CDK13 complex (GO:0002945)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				GGAGATGGTGGGAGCAGTTTG	0.463																																						ENST00000389879.5		NA																	0				NS(1)|endometrium(2)|lung(3)	6						c.(703-705)tgG>tgA		cyclin K							119.0	115.0	116.0					14																	99968673		1987	4155	6142	SO:0001587	stop_gained	8812				cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding	g.chr14:99968673G>A	AF060515	CCDS45160.1	14q32.2	2014-07-03			ENSG00000090061	ENSG00000090061			1596	protein-coding gene	gene with protein product		603544				9632813, 10574912	Standard	NM_001099402		Approved	CPR4	uc001ygi.4	O75909	OTTHUMG00000171495	ENST00000389879.5:c.705G>A	14.37:g.99968673G>A	ENSP00000374529:p.Trp235*	True	False		Somatic	0				CCNK_ENST00000557165.1_3'UTR|CCNK_ENST00000555049.1_Nonsense_Mutation_p.W235*	p.W235*	NM_001099402.1	NP_001092872.1	WXS	Illumina HiSeq	Phase_I	O75909	CCNK_HUMAN			7	828	+		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)	235					Q59FT6|Q86U16|Q96B63|Q9NNY9	Nonsense_Mutation	SNP	ENST00000389879.5	37	c.705G>A	CCDS45160.1	.	.	.	.	.	.	.	.	.	.	G	35	5.449593	0.96205	.	.	ENSG00000090061	ENST00000437596;ENST00000216279;ENST00000380246;ENST00000389879;ENST00000555049	.	.	.	5.63	4.73	0.59995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.8638	14.9565	0.71116	0.0693:0.0:0.9307:0.0	.	.	.	.	X	235;237;237;235;235	.	ENSP00000216279:W237X	W	+	3	0	CCNK	99038426	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.980000	0.88113	2.652000	0.90054	0.655000	0.94253	TGG		0.463	CCNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413721.1	0			14:99968673
GGT1	2678	broad.mit.edu	37	22	25023539	25023539	+	Silent	SNP	C	C	G			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr22:25023539C>G	ENST00000400382.1	+	12	1916	c.1161C>G	c.(1159-1161)gtC>gtG	p.V387V	GGT1_ENST00000403838.1_Silent_p.V43V|GGT1_ENST00000248923.4_Silent_p.V387V|GGT1_ENST00000406383.2_Silent_p.V387V|GGT1_ENST00000404920.1_Silent_p.V43V|GGT1_ENST00000404223.1_Silent_p.V43V|GGT1_ENST00000400380.1_Silent_p.V387V|GGT1_ENST00000404532.1_Silent_p.V43V|GGT1_ENST00000400383.1_Silent_p.V387V|GGT1_ENST00000401885.1_Silent_p.V43V|GGT1_ENST00000466310.1_3'UTR			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	387					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	TGTCTGTCGTCGCAGAGGACG	0.657																																						ENST00000400382.1		NA																	0				breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40						c.(1159-1161)gtC>gtG		gamma-glutamyltransferase 1	Glutathione(DB00143)						13.0	13.0	13.0					22																	25023539		2193	4246	6439	SO:0001819	synonymous_variant	2678				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding	g.chr22:25023539C>G	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.1161C>G	22.37:g.25023539C>G		False	False		Somatic	0				GGT1_ENST00000404920.1_Silent_p.V43V|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000400383.1_Silent_p.V387V|GGT1_ENST00000403838.1_Silent_p.V43V|GGT1_ENST00000400380.1_Silent_p.V387V|GGT1_ENST00000248923.4_Silent_p.V387V|GGT1_ENST00000401885.1_Silent_p.V43V|GGT1_ENST00000406383.2_Silent_p.V387V|GGT1_ENST00000404532.1_Silent_p.V43V|GGT1_ENST00000404223.1_Silent_p.V43V	p.V387V			WXS	Illumina HiSeq	Phase_I	P19440	GGT1_HUMAN			12	1916	+			387					Q08247|Q14404|Q8TBS1|Q9UMK1	Silent	SNP	ENST00000400382.1	37	c.1161C>G	CCDS42992.1																																																																																				0.657	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	0	NM_013430		22:25023539
CCDC130	81576	broad.mit.edu	37	19	13875456	13875456	+	IGR	SNP	G	G	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:13875456G>T	ENST00000586600.1	+	0	1922				MRI1_ENST00000040663.6_Missense_Mutation_p.Q18H|MRI1_ENST00000319545.8_Missense_Mutation_p.Q18H			P13994	CC130_HUMAN	coiled-coil domain containing 130						response to virus (GO:0009615)			p.Q18H(4)		endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			TCCTAGACCAGCTGCTGCTGC	0.706																																						ENST00000319545.8		NA																	4	Substitution - Missense(4)	p.Q18H(4)	prostate(2)|lung(2)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						c.(52-54)caG>caT		methylthioribose-1-phosphate isomerase 1							23.0	26.0	25.0					19																	13875456		2189	4284	6473	SO:0001628	intergenic_variant	84245				L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity	g.chr19:13875456G>T	AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994			19.37:g.13875456G>T		True	False		Somatic	0				MRI1_ENST00000040663.6_Missense_Mutation_p.Q18H	p.Q18H	NM_032285.2	NP_115661.1	WXS	Illumina HiSeq	Phase_I	Q9BV20	MTNA_HUMAN			1	111	+			18					Q9BQ72	Missense_Mutation	SNP	ENST00000586600.1	37	c.54G>T	CCDS12296.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582330	0.65992	.	.	ENSG00000037757	ENST00000040663;ENST00000319545	T;T	0.37584	1.19;1.19	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.69637	0.3133	H	0.96633	3.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.77397	-0.2603	10	0.87932	D	0	-22.7382	9.3849	0.38336	0.0944:0.0:0.9056:0.0	.	18;18	Q9BV20-2;Q9BV20	.;MTNA_HUMAN	H	18	ENSP00000040663:Q18H;ENSP00000314871:Q18H	ENSP00000040663:Q18H	Q	+	3	2	MRI1	13736456	1.000000	0.71417	1.000000	0.80357	0.098000	0.18820	4.030000	0.57260	2.651000	0.90000	0.655000	0.94253	CAG		0.706	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453216.2	0	NM_030818		19:13875456
AJAP1	55966	broad.mit.edu	37	1	4772232	4772232	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:4772232C>A	ENST00000378191.4	+	2	683	c.302C>A	c.(301-303)gCc>gAc	p.A101D	AJAP1_ENST00000378190.3_Missense_Mutation_p.A101D	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	101					cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		GCCAGACGGGCCCACAGGCCC	0.736																																						ENST00000378191.4		NA																	0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.(301-303)gCc>gAc		adherens junctions associated protein 1							6.0	6.0	6.0					1																	4772232		1854	3721	5575	SO:0001583	missense	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4772232C>A	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.302C>A	1.37:g.4772232C>A	ENSP00000367433:p.Ala101Asp	True	False		Somatic	0				AJAP1_ENST00000378190.3_Missense_Mutation_p.A101D	p.A101D	NM_018836.3	NP_061324.1	WXS	Illumina HiSeq	Phase_I	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	2	683	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	101					Q9Y229	Missense_Mutation	SNP	ENST00000378191.4	37	c.302C>A	CCDS54.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.741503	0.49151	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.46819	0.86;0.86	5.2	4.29	0.51040	.	0.632555	0.15632	N	0.252341	T	0.40546	0.1121	N	0.24115	0.695	0.37947	D	0.932537	P	0.52061	0.95	P	0.49887	0.625	T	0.24119	-1.0169	10	0.30854	T	0.27	-24.4186	9.7068	0.40220	0.0:0.9031:0.0:0.0969	.	101	Q9UKB5	AJAP1_HUMAN	D	101	ENSP00000367432:A101D;ENSP00000367433:A101D	ENSP00000367432:A101D	A	+	2	0	AJAP1	4672092	0.077000	0.21312	0.909000	0.35828	0.089000	0.18198	1.256000	0.32921	1.162000	0.42619	0.563000	0.77884	GCC		0.736	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	0	NM_018836		1:4772232
KCNQ2	3785	broad.mit.edu	37	20	62044927	62044927	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr20:62044927G>A	ENST00000359125.2	-	15	1813	c.1639C>T	c.(1639-1641)Cgg>Tgg	p.R547W	KCNQ2_ENST00000360480.3_Missense_Mutation_p.R519W|KCNQ2_ENST00000354587.3_Missense_Mutation_p.R519W|KCNQ2_ENST00000370224.1_Missense_Mutation_p.R519W|KCNQ2_ENST00000357249.2_Missense_Mutation_p.R529W|KCNQ2_ENST00000344462.4_Missense_Mutation_p.R516W|KCNQ2_ENST00000359689.1_Missense_Mutation_p.R547W	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	547					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	ACCAGGAACCGCATGACACTG	0.657																																						ENST00000354587.3		NA																	0				biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(1555-1557)Cgg>Tgg		potassium voltage-gated channel, KQT-like subfamily, member 2	Amitriptyline(DB00321)						80.0	80.0	80.0					20																	62044927		2203	4300	6503	SO:0001583	missense	3785				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:62044927G>A	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.1639C>T	20.37:g.62044927G>A	ENSP00000352035:p.Arg547Trp	False	False		Somatic	0				KCNQ2_ENST00000344462.4_Missense_Mutation_p.R516W|KCNQ2_ENST00000359689.1_Missense_Mutation_p.R547W|KCNQ2_ENST00000359125.2_Missense_Mutation_p.R547W|KCNQ2_ENST00000370224.1_Missense_Mutation_p.R519W|KCNQ2_ENST00000357249.2_Missense_Mutation_p.R529W|KCNQ2_ENST00000360480.3_Missense_Mutation_p.R519W	p.R519W			WXS	Illumina HiSeq	Phase_I	O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		13	1731	-	all_cancers(38;1.24e-11)		547					O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	ENST00000359125.2	37	c.1555C>T	CCDS13520.1	.	.	.	.	.	.	.	.	.	.	g	17.04	3.287648	0.59976	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222	D;D;D;D;D;D;D;D;D;D	0.99698	-6.44;-6.44;-6.44;-6.44;-6.44;-6.44;-6.44;-6.44;-6.44;-6.44	4.99	-1.15	0.09709	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.069255	0.64402	D	0.000020	D	0.99510	0.9825	M	0.61703	1.905	0.39221	D	0.963502	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.75484	0.976;0.976;0.976;0.986	D	0.97657	1.0158	10	0.87932	D	0	-38.4785	18.3871	0.90470	0.0:0.0:0.2606:0.7394	.	519;529;516;547	O43526-3;O43526-2;O43526-4;O43526	.;.;.;KCNQ2_HUMAN	W	529;547;517;519;547;516;519;507;519;519	ENSP00000349789:R529W;ENSP00000352035:R547W;ENSP00000359246:R517W;ENSP00000346601:R519W;ENSP00000352718:R547W;ENSP00000399612:R516W;ENSP00000353668:R519W;ENSP00000339611:R507W;ENSP00000359244:R519W;ENSP00000359242:R519W	ENSP00000339611:R507W	R	-	1	2	KCNQ2	61515371	0.782000	0.28689	0.989000	0.46669	0.803000	0.45373	0.217000	0.17603	-0.506000	0.06558	-1.418000	0.01112	CGG		0.657	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	0	NM_172109		20:62044927
C4orf22	255119	broad.mit.edu	37	4	81791173	81791173	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr4:81791173T>A	ENST00000358105.3	+	4	409	c.360T>A	c.(358-360)aaT>aaA	p.N120K	C4orf22_ENST00000508675.1_Missense_Mutation_p.N137K	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	120										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						GTGACAGAAATTCTCATGGGC	0.363																																						ENST00000358105.3		NA																	0				NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						c.(358-360)aaT>aaA		chromosome 4 open reading frame 22							110.0	112.0	111.0					4																	81791173		2203	4300	6503	SO:0001583	missense	255119							g.chr4:81791173T>A	BC034296	CCDS3587.1, CCDS56336.1	4q21.21	2008-02-05			ENSG00000197826	ENSG00000197826			28554	protein-coding gene	gene with protein product						12477932	Standard	NM_152770		Approved		uc010ijp.3	Q6V702	OTTHUMG00000130289	ENST00000358105.3:c.360T>A	4.37:g.81791173T>A	ENSP00000350818:p.Asn120Lys	True	False		Somatic	0				C4orf22_ENST00000508675.1_Missense_Mutation_p.N137K	p.N120K	NM_152770.2	NP_689983.2	WXS	Illumina HiSeq	Phase_I	Q6V702	CD022_HUMAN			4	409	+			120					E7EQ13|Q6ZQY4|Q8N4G9	Missense_Mutation	SNP	ENST00000358105.3	37	c.360T>A	CCDS3587.1	.	.	.	.	.	.	.	.	.	.	T	13.51	2.259091	0.39896	.	.	ENSG00000197826	ENST00000358105;ENST00000508675	T;T	0.30448	1.53;1.53	5.07	1.47	0.22746	.	0.000000	0.85682	D	0.000000	T	0.56790	0.2009	M	0.91249	3.19	0.35988	D	0.836487	D;D	0.89917	1.0;0.997	D;D	0.79784	0.993;0.987	T	0.66232	-0.5975	10	0.66056	D	0.02	-28.3489	7.5202	0.27624	0.0:0.3305:0.0:0.6695	.	137;120	E7EQ13;Q6V702	.;CD022_HUMAN	K	120;137	ENSP00000350818:N120K;ENSP00000425786:N137K	ENSP00000350818:N120K	N	+	3	2	C4orf22	82010197	0.863000	0.29885	0.981000	0.43875	0.101000	0.19017	0.974000	0.29436	0.775000	0.33450	0.477000	0.44152	AAT		0.363	C4orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252629.2	0	NM_152770		4:81791173
LRP11	84918	broad.mit.edu	37	6	150164252	150164252	+	Silent	SNP	T	T	C	rs201434283		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr6:150164252T>C	ENST00000239367.2	-	3	785	c.780A>G	c.(778-780)caA>caG	p.Q260Q	LRP11_ENST00000367368.2_Silent_p.Q260Q|LRP11_ENST00000546019.1_Silent_p.Q5Q	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	260	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.					integral component of membrane (GO:0016021)				cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		GGGTTCCTGATTGAGGCACCT	0.577																																						ENST00000239367.2		NA																	0				cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8						c.(778-780)caA>caG		low density lipoprotein receptor-related protein 11		T		1,4405	2.1+/-5.4	0,1,2202	102.0	81.0	88.0		780	-1.4	1.0	6		88	0,8600		0,0,4300	no	coding-synonymous	LRP11	NM_032832.5		0,1,6502	CC,CT,TT		0.0,0.0227,0.0077		260/501	150164252	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84918					integral to membrane	receptor activity	g.chr6:150164252T>C	AK027641	CCDS5220.1	6q24.3	2013-02-27			ENSG00000120256	ENSG00000120256		"""Low density lipoprotein receptors"""	16936	protein-coding gene	gene with protein product							Standard	NM_032832		Approved	bA350J20.3, MANSC3	uc003qng.2	Q86VZ4	OTTHUMG00000015801	ENST00000239367.2:c.780A>G	6.37:g.150164252T>C		False	False		Somatic	0				LRP11_ENST00000546019.1_Silent_p.Q5Q|LRP11_ENST00000367368.2_Silent_p.Q260Q	p.Q260Q	NM_032832.5	NP_116221.3	WXS	Illumina HiSeq	Phase_I	Q86VZ4	LRP11_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)	3	785	-		Ovarian(120;0.0907)	260			PKD.		Q5VYC0|Q96SN6	Silent	SNP	ENST00000239367.2	37	c.780A>G	CCDS5220.1																																																																																				0.577	LRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042664.1	0	NM_032832		6:150164252
LRP1B	53353	broad.mit.edu	37	2	141771238	141771238	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr2:141771238T>A	ENST00000389484.3	-	14	3238	c.2267A>T	c.(2266-2268)tAt>tTt	p.Y756F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	756					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACCATTCATATAATCAGTCCA	0.388										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3		NA																	0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(2266-2268)tAt>tTt		low density lipoprotein receptor-related protein 1B							132.0	126.0	128.0					2																	141771238		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141771238T>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2267A>T	2.37:g.141771238T>A	ENSP00000374135:p.Tyr756Phe	False	False	TSP Lung(27;0.18)	Somatic	0					p.Y756F	NM_018557.2	NP_061027.2	WXS	Illumina HiSeq	Phase_I	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	14	3238	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	756					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.2267A>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	19.58	3.854521	0.71719	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91124	-2.79	5.77	5.77	0.91146	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	U	0.000002	D	0.92750	0.7695	L	0.42008	1.315	0.53005	D	0.999968	D	0.69078	0.997	D	0.75020	0.985	D	0.91144	0.4948	10	0.25751	T	0.34	.	16.0884	0.81073	0.0:0.0:0.0:1.0	.	756	Q9NZR2	LRP1B_HUMAN	F	756;694	ENSP00000374135:Y756F	ENSP00000374135:Y756F	Y	-	2	0	LRP1B	141487708	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.900000	0.87376	2.203000	0.70933	0.533000	0.62120	TAT		0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	0	NM_018557		2:141771238
CDC45	8318	broad.mit.edu	37	22	19492919	19492919	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr22:19492919C>T	ENST00000407835.1	+	11	995	c.739C>T	c.(739-741)Cgc>Tgc	p.R247C	CDC45_ENST00000437685.2_Missense_Mutation_p.R279C|CDC45_ENST00000404724.3_Missense_Mutation_p.R201C|CDC45_ENST00000263201.1_Missense_Mutation_p.R247C			O75419	CDC45_HUMAN	cell division cycle 45	247					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						TGTCCTGCAGCGCCACGTTTC	0.537																																						ENST00000407835.1		NA																	0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						c.(739-741)Cgc>Tgc		cell division cycle 45							102.0	80.0	88.0					22																	19492919		2203	4300	6503	SO:0001583	missense	8318				DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding	g.chr22:19492919C>T	AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009			1739	protein-coding gene	gene with protein product	"""human CDC45"""	603465	"""CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like"", ""CDC45 cell division cycle 45-like (S. cerevisiae)"", ""cell division cycle 45 homolog (S. cerevisiae)"""	CDC45L2, CDC45L		9660782, 9724329, 17608804	Standard	NM_001178010		Approved		uc011aha.2	O75419	OTTHUMG00000150386	ENST00000407835.1:c.739C>T	22.37:g.19492919C>T	ENSP00000385240:p.Arg247Cys	False	False		Somatic	0				CDC45_ENST00000404724.3_Missense_Mutation_p.R201C|CDC45_ENST00000437685.2_Missense_Mutation_p.R279C|CDC45_ENST00000263201.1_Missense_Mutation_p.R247C	p.R247C			WXS	Illumina HiSeq	Phase_I	O75419	CDC45_HUMAN			11	995	+			247					B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	Missense_Mutation	SNP	ENST00000407835.1	37	c.739C>T	CCDS13762.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502953	0.85176	.	.	ENSG00000093009	ENST00000407835;ENST00000437685;ENST00000263201;ENST00000404724	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.53351	0.1791	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;1.0	D;D;D;D;D	0.78314	0.987;0.964;0.991;0.987;0.991	T	0.55823	-0.8080	10	0.56958	D	0.05	-20.991	18.7616	0.91853	0.0:1.0:0.0:0.0	.	279;242;201;279;247	E9PDH7;B4E092;B4DDB4;B4DDU3;O75419	.;.;.;.;CDC45_HUMAN	C	247;279;247;201	ENSP00000385240:R247C;ENSP00000405726:R279C;ENSP00000263201:R247C;ENSP00000384978:R201C	ENSP00000263201:R247C	R	+	1	0	CDC45	17872919	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	4.500000	0.60387	2.427000	0.82271	0.462000	0.41574	CGC		0.537	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317903.1	0	NM_003504		22:19492919
CNTN5	53942	broad.mit.edu	37	11	100211266	100211266	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:100211266C>A	ENST00000524871.1	+	22	3092	c.2802C>A	c.(2800-2802)ttC>ttA	p.F934L	CNTN5_ENST00000279463.3_Missense_Mutation_p.F934L|CNTN5_ENST00000418526.2_Missense_Mutation_p.F860L|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Missense_Mutation_p.F934L	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	934	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.F934F(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ATGAGTCTTTCGTCATCCTAA	0.423																																						ENST00000524871.1		NA																	1	Substitution - coding silent(1)	p.F934F(1)	large_intestine(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(2800-2802)ttC>ttA		contactin 5							92.0	92.0	92.0					11																	100211266		1927	4147	6074	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:100211266C>A	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.2802C>A	11.37:g.100211266C>A	ENSP00000435637:p.Phe934Leu	True	False		Somatic	0				CNTN5_ENST00000528682.1_Missense_Mutation_p.F934L|CNTN5_ENST00000279463.3_Missense_Mutation_p.F934L|CNTN5_ENST00000418526.2_Missense_Mutation_p.F860L|CNTN5_ENST00000524560.1_3'UTR	p.F934L	NM_014361.3	NP_055176.1	WXS	Illumina HiSeq	Phase_I	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	22	3092	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	934			Fibronectin type-III 3.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.2802C>A	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	C	4.092	0.014996	0.07959	.	.	ENSG00000149972	ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.18	-5.25	0.02781	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.412070	0.29053	N	0.013284	T	0.19886	0.0478	N	0.01576	-0.805	0.09310	N	0.999997	B;B	0.21688	0.019;0.059	B;B	0.23716	0.01;0.048	T	0.23797	-1.0178	9	.	.	.	.	14.7843	0.69790	0.0:0.4529:0.0:0.5471	.	860;934	O94779-2;O94779	.;CNTN5_HUMAN	L	934;934;860;934	ENSP00000436185:F934L;ENSP00000435637:F934L;ENSP00000393229:F860L;ENSP00000279463:F934L	.	F	+	3	2	CNTN5	99716476	0.000000	0.05858	0.031000	0.17742	0.006000	0.05464	-1.952000	0.01528	-0.884000	0.03976	-0.216000	0.12614	TTC		0.423	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	0	NM_014361		11:100211266
FAT4	79633	broad.mit.edu	37	4	126372829	126372829	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr4:126372829C>T	ENST00000394329.3	+	9	10671	c.10658C>T	c.(10657-10659)cCt>cTt	p.P3553L	FAT4_ENST00000335110.5_Missense_Mutation_p.P1851L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3553	Cadherin 34. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGCACAGGTCCTGCCACCAGT	0.493																																						ENST00000394329.3		NA																	0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(10657-10659)cCt>cTt		FAT atypical cadherin 4							118.0	119.0	119.0					4																	126372829		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126372829C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.10658C>T	4.37:g.126372829C>T	ENSP00000377862:p.Pro3553Leu	False	False		Somatic	0				FAT4_ENST00000335110.5_Missense_Mutation_p.P1851L	p.P3553L	NM_024582.4	NP_078858.4	WXS	Illumina HiSeq	Phase_I	Q6V0I7	FAT4_HUMAN			9	10671	+			3553			Cadherin 34.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.10658C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	14.16	2.451173	0.43531	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.54279	0.58;0.58	5.91	5.91	0.95273	Cadherin (4);Cadherin-like (1);	0.000000	0.34362	U	0.004024	T	0.50051	0.1593	L	0.41632	1.29	0.80722	D	1	P;P;P	0.46142	0.873;0.72;0.617	B;B;B	0.42282	0.382;0.334;0.178	T	0.42430	-0.9452	10	0.34782	T	0.22	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	1851;3553;3553	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	L	3553;1851	ENSP00000377862:P3553L;ENSP00000335169:P1851L	ENSP00000335169:P1851L	P	+	2	0	FAT4	126592279	0.999000	0.42202	0.574000	0.28523	0.231000	0.25187	7.662000	0.83803	2.793000	0.96121	0.655000	0.94253	CCT		0.493	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	0	NM_024582		4:126372829
UBN1	29855	broad.mit.edu	37	16	4920917	4920917	+	Silent	SNP	A	A	G			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr16:4920917A>G	ENST00000396658.4	+	10	2206	c.1503A>G	c.(1501-1503)aaA>aaG	p.K501K	UBN1_ENST00000545171.1_Silent_p.K501K|UBN1_ENST00000590769.1_Silent_p.K501K|UBN1_ENST00000262376.6_Silent_p.K501K	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	501					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K501K(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						ATGAAGAAAAAGGGGGCAGGA	0.522																																						ENST00000396658.4		NA																	1	Substitution - coding silent(1)	p.K501K(1)	lung(1)	NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(1501-1503)aaA>aaG		ubinuclein 1							72.0	71.0	72.0					16																	4920917		2197	4300	6497	SO:0001819	synonymous_variant	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4920917A>G	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.1503A>G	16.37:g.4920917A>G		True	False		Somatic	0				UBN1_ENST00000262376.6_Silent_p.K501K|UBN1_ENST00000545171.1_Silent_p.K501K|UBN1_ENST00000590769.1_Silent_p.K501K	p.K501K	NM_016936.3	NP_058632.2	WXS	Illumina HiSeq	Phase_I	Q9NPG3	UBN1_HUMAN			10	2206	+			501					B7Z6D3|D3DUE8|Q13079|Q9P1P7	Silent	SNP	ENST00000396658.4	37	c.1503A>G	CCDS10525.1																																																																																				0.522	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	0	NM_016936		16:4920917
RAB6A	5870	broad.mit.edu	37	11	73471653	73471653	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:73471653G>T	ENST00000336083.3	-	1	483	c.28C>A	c.(28-30)Ccg>Acg	p.P10T	RP11-707G14.1_ENST00000540547.1_RNA|RAB6A_ENST00000310653.6_Missense_Mutation_p.P10T|RAB6A_ENST00000536566.1_5'Flank|RAB6A_ENST00000541588.1_Missense_Mutation_p.P10T	NM_198896.1	NP_942599.1	P20340	RAB6A_HUMAN	RAB6A, member RAS oncogene family	10					antigen processing and presentation (GO:0019882)|early endosome to Golgi transport (GO:0034498)|GTP catabolic process (GO:0006184)|minus-end-directed organelle transport along microtubule (GO:0072385)|peptidyl-cysteine methylation (GO:0018125)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|protein domain specific binding (GO:0019904)			large_intestine(2)|lung(2)	4						TTCCTCAGCGGATTCCCGAAG	0.667																																						ENST00000310653.6		NA																	0				large_intestine(2)|lung(2)	4						c.(28-30)Ccg>Acg		RAB6A, member RAS oncogene family							35.0	30.0	32.0					11																	73471653		2200	4293	6493	SO:0001583	missense	5870				minus-end-directed organelle transport along microtubule|peptidyl-cysteine methylation|protein targeting to Golgi|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic vesicle|cytosol|Golgi membrane|trans-Golgi network	GTP binding|GTPase activity|protein domain specific binding	g.chr11:73471653G>T	AF130986	CCDS8223.1, CCDS8224.1, CCDS58155.1, CCDS58156.1	11q13.3	2008-08-08			ENSG00000175582	ENSG00000175582		"""RAB, member RAS oncogene"""	9786	protein-coding gene	gene with protein product		179513		RAB6			Standard	NM_001243718		Approved		uc001ouf.3	P20340	OTTHUMG00000134308	ENST00000336083.3:c.28C>A	11.37:g.73471653G>T	ENSP00000336850:p.Pro10Thr	False	False		Somatic	0				RAB6A_ENST00000541588.1_Missense_Mutation_p.P10T|RAB6A_ENST00000336083.3_Missense_Mutation_p.P10T|RP11-707G14.1_ENST00000540547.1_RNA	p.P10T	NM_001077637.1|NM_002869.4	NP_001071105.1|NP_002860.2	WXS	Illumina HiSeq	Phase_I	P20340	RAB6A_HUMAN			1	529	-			10					A8K133|B7Z772|F5H668|Q1W5D8|Q5U0A8|Q9UBE4	Missense_Mutation	SNP	ENST00000336083.3	37	c.28C>A	CCDS8224.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.084059	0.76642	.	.	ENSG00000175582	ENST00000310653;ENST00000336083;ENST00000393571;ENST00000541588;ENST00000540771;ENST00000539750;ENST00000535748;ENST00000542366	T;T;T	0.64803	-0.12;-0.12;-0.11	4.89	3.98	0.46160	.	0.057059	0.64402	D	0.000001	T	0.65176	0.2666	L	0.53561	1.675	0.80722	D	1	B;D;B;B	0.53312	0.057;0.959;0.136;0.041	B;P;B;B	0.51615	0.05;0.675;0.059;0.051	T	0.68010	-0.5522	10	0.66056	D	0.02	.	10.9382	0.47257	0.0903:0.0:0.9097:0.0	.	10;10;10;10	Q1W5D8;F5H3K7;P20340;P20340-2	.;.;RAB6A_HUMAN;.	T	10	ENSP00000311449:P10T;ENSP00000336850:P10T;ENSP00000445350:P10T	ENSP00000311449:P10T	P	-	1	0	RAB6A	73149301	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.901000	0.75693	1.289000	0.44618	0.650000	0.86243	CCG		0.667	RAB6A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259241.2	0			11:73471653
LRP2	4036	broad.mit.edu	37	2	170092528	170092528	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr2:170092528C>T	ENST00000263816.3	-	29	5027	c.4742G>A	c.(4741-4743)cGa>cAa	p.R1581Q		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1581					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CATGCTGGCTCGCTCGATGCG	0.512																																						ENST00000263816.3		NA																	0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(4741-4743)cGa>cAa		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						73.0	61.0	65.0					2																	170092528		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170092528C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.4742G>A	2.37:g.170092528C>T	ENSP00000263816:p.Arg1581Gln	True	False		Somatic	0					p.R1581Q	NM_004525.2	NP_004516.2	WXS	Illumina HiSeq	Phase_I	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	29	5027	-			1581					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.4742G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378336	0.61735	.	.	ENSG00000081479	ENST00000263816	D	0.96300	-3.97	5.59	5.59	0.84812	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.103871	0.64402	D	0.000006	D	0.97411	0.9153	M	0.80982	2.52	0.80722	D	1	D	0.69078	0.997	P	0.57960	0.83	D	0.97434	1.0017	10	0.72032	D	0.01	.	13.6684	0.62409	0.0:0.9199:0.0:0.0801	.	1581	P98164	LRP2_HUMAN	Q	1581	ENSP00000263816:R1581Q	ENSP00000263816:R1581Q	R	-	2	0	LRP2	169800774	1.000000	0.71417	0.990000	0.47175	0.288000	0.27193	2.417000	0.44653	2.793000	0.96121	0.655000	0.94253	CGA		0.512	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	0	NM_004525		2:170092528
ATP13A3	79572	broad.mit.edu	37	3	194147858	194147858	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr3:194147858C>A	ENST00000439040.1	-	29	3862	c.3071G>T	c.(3070-3072)gGt>gTt	p.G1024V	ATP13A3_ENST00000256031.4_Missense_Mutation_p.G1024V			Q9H7F0	AT133_HUMAN	ATPase type 13A3	1024						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CCAAAAAAAACCCAAAGATTG	0.393																																						ENST00000439040.1		NA																	0				NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(3070-3072)gGt>gTt		ATPase type 13A3							67.0	66.0	66.0					3																	194147858		1815	4083	5898	SO:0001583	missense	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194147858C>A	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.3071G>T	3.37:g.194147858C>A	ENSP00000416508:p.Gly1024Val	True	False		Somatic	0				ATP13A3_ENST00000256031.4_Missense_Mutation_p.G1024V	p.G1024V			WXS	Illumina HiSeq	Phase_I	Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	29	3862	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	1024					Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	c.3071G>T	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.755648	0.49362	.	.	ENSG00000133657	ENST00000439040;ENST00000256031	D;D	0.87966	-2.32;-2.32	5.52	4.65	0.58169	.	0.219203	0.47093	D	0.000244	T	0.73125	0.3547	N	0.16166	0.38	0.58432	D	0.999998	B	0.24920	0.114	B	0.22601	0.04	T	0.65602	-0.6128	10	0.09084	T	0.74	-3.1248	10.2124	0.43150	0.0:0.7934:0.1351:0.0715	.	1024	Q9H7F0	AT133_HUMAN	V	1024	ENSP00000416508:G1024V;ENSP00000256031:G1024V	ENSP00000256031:G1024V	G	-	2	0	ATP13A3	195629147	0.999000	0.42202	0.876000	0.34364	0.985000	0.73830	5.040000	0.64191	1.337000	0.45525	-0.203000	0.12734	GGT		0.393	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	0	NM_024524		3:194147858
KRT37	8688	broad.mit.edu	37	17	39579066	39579066	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr17:39579066C>A	ENST00000225550.3	-	3	695	c.696G>T	c.(694-696)aaG>aaT	p.K232N	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	232	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				GCTGCTCCTCCTTCAGGGACT	0.682																																						ENST00000225550.3		NA																	0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25						c.(694-696)aaG>aaT		keratin 37							55.0	47.0	50.0					17																	39579066		2203	4297	6500	SO:0001583	missense	8688					intermediate filament	structural molecule activity	g.chr17:39579066C>A	Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6455	protein-coding gene	gene with protein product		604541	"""keratin, hair, acidic, 7"""	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.696G>T	17.37:g.39579066C>A	ENSP00000225550:p.Lys232Asn	False	False		Somatic	0				AC003958.2_ENST00000432258.1_RNA	p.K232N	NM_003770.4	NP_003761.3	WXS	Illumina HiSeq	Phase_I	O76014	KRT37_HUMAN			3	695	-		Breast(137;0.000496)	232			Coil 1B.|Rod.			Missense_Mutation	SNP	ENST00000225550.3	37	c.696G>T	CCDS32653.1	.	.	.	.	.	.	.	.	.	.	.	19.52	3.842774	0.71488	.	.	ENSG00000108417	ENST00000225550	D	0.89050	-2.46	4.86	3.89	0.44902	Filament (1);	0.000000	0.48767	D	0.000168	D	0.93229	0.7843	M	0.84773	2.715	0.36535	D	0.870956	D	0.65815	0.995	D	0.65443	0.935	D	0.93696	0.7011	10	0.48119	T	0.1	.	8.3474	0.32281	0.0:0.7613:0.1549:0.0839	.	232	O76014	KRT37_HUMAN	N	232	ENSP00000225550:K232N	ENSP00000225550:K232N	K	-	3	2	KRT37	36832592	0.750000	0.28316	1.000000	0.80357	0.981000	0.71138	0.281000	0.18810	1.058000	0.40530	-0.126000	0.14955	AAG		0.682	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	0	NM_003770		17:39579066
UQCC1	55245	broad.mit.edu	37	20	33962046	33962046	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr20:33962046G>A	ENST00000374385.5	-	5	524	c.347C>T	c.(346-348)gCg>gTg	p.A116V	UQCC1_ENST00000349714.5_Intron|UQCC1_ENST00000407996.2_Intron|UQCC1_ENST00000374377.5_Intron|UQCC1_ENST00000397554.1_Missense_Mutation_p.A116V|UQCC1_ENST00000374380.2_Missense_Mutation_p.A48V|UQCC1_ENST00000374384.2_Missense_Mutation_p.A116V|UQCC1_ENST00000359226.2_Intron|UQCC1_ENST00000397556.3_Missense_Mutation_p.A17V|UQCC1_ENST00000542501.1_Intron|UQCC1_ENST00000491125.1_5'UTR|UQCC1_ENST00000540457.1_Intron	NM_018244.4	NP_060714.3	Q9NVA1	UQCC1_HUMAN	ubiquinol-cytochrome c reductase complex assembly factor 1	116						cytoplasmic membrane-bounded vesicle (GO:0016023)|mitochondrion (GO:0005739)											GCGCAGGGCCGCAATCTTAAT	0.363																																						ENST00000397554.1		NA																	0					NA						c.(346-348)gCg>gTg		ubiquinol-cytochrome c reductase complex assembly factor 1							79.0	77.0	78.0					20																	33962046		2203	4300	6503	SO:0001583	missense	55245							g.chr20:33962046G>A	AK001712	CCDS13252.1, CCDS13253.1, CCDS13253.2, CCDS54458.1	20q11.22	2013-09-20	2013-09-20	2013-09-20	ENSG00000101019	ENSG00000101019		"""Mitochondrial respiratory chain complex assembly factors"""	15891	protein-coding gene	gene with protein product	"""Basic FGF-repressed Zic-binding protein"", ""cytochrome B protein synthesis 3 homolog (S. cerevisiae)"""	611797	"""chromosome 20 open reading frame 44"", ""ubiquinol-cytochrome c reductase complex chaperone"""	C20orf44, UQCC			Standard	NM_018244		Approved	FLJ10850, CBP3, BFZB	uc002xcd.3	Q9NVA1	OTTHUMG00000032335	ENST00000374385.5:c.347C>T	20.37:g.33962046G>A	ENSP00000363506:p.Ala116Val	False	False		Somatic	0				UQCC1_ENST00000359226.2_Intron|UQCC1_ENST00000407996.2_Intron|UQCC1_ENST00000374380.2_Missense_Mutation_p.A48V|UQCC1_ENST00000491125.1_5'UTR|UQCC1_ENST00000540457.1_Intron|UQCC1_ENST00000374385.5_Missense_Mutation_p.A116V|UQCC1_ENST00000397556.3_Missense_Mutation_p.A17V|UQCC1_ENST00000542501.1_Intron|UQCC1_ENST00000374377.5_Intron|UQCC1_ENST00000349714.5_Intron|UQCC1_ENST00000374384.2_Missense_Mutation_p.A116V	p.A116V			WXS	Illumina HiSeq	Phase_I					5	357	-			116					B1AKV5|Q0VF37|Q5T348|Q5T351|Q5T353|Q86YU3|Q86YU4|Q96H66|Q9H438|Q9H452|Q9H9K8|Q9H9R5	Missense_Mutation	SNP	ENST00000374385.5	37	c.347C>T	CCDS13252.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.920808	0.73213	.	.	ENSG00000101019	ENST00000374384;ENST00000374380;ENST00000374385;ENST00000397556;ENST00000424405;ENST00000438533;ENST00000397554	T;T;T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02;0.02;0.02	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.77538	0.4145	M	0.71581	2.175	0.80722	D	1	P;D;D;D;P	0.89917	0.806;0.998;1.0;0.998;0.622	B;P;D;P;B	0.75484	0.133;0.852;0.986;0.852;0.14	T	0.78695	-0.2104	10	0.51188	T	0.08	0.7242	16.1341	0.81471	0.0:0.0:1.0:0.0	.	48;108;116;116;116	B1AKV5;Q59FR0;B7ZBG3;B1AKV2;Q9NVA1	.;.;.;.;UQCC_HUMAN	V	116;48;116;17;84;130;116	ENSP00000363505:A116V;ENSP00000363501:A48V;ENSP00000363506:A116V;ENSP00000380688:A17V;ENSP00000399713:A84V;ENSP00000398531:A130V;ENSP00000380686:A116V	ENSP00000363501:A48V	A	-	2	0	UQCC	33425460	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	8.376000	0.90138	2.540000	0.85666	0.557000	0.71058	GCG		0.363	UQCC1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078866.1	0	NM_018244		20:33962046
OR4C6	219432	broad.mit.edu	37	11	55433006	55433006	+	Missense_Mutation	SNP	G	G	A	rs367948844		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:55433006G>A	ENST00000314259.3	+	1	393	c.364G>A	c.(364-366)Gtg>Atg	p.V122M		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V122L(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TGACCGCTACGTGGCCATCTG	0.547																																						ENST00000314259.3		NA																	1	Substitution - Missense(1)	p.V122L(1)	lung(1)	breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(364-366)Gtg>Atg		olfactory receptor, family 4, subfamily C, member 6		G	MET/VAL	1,4399	2.1+/-5.4	0,1,2199	108.0	99.0	102.0		364	2.8	1.0	11		102	0,8592		0,0,4296	no	missense	OR4C6	NM_001004704.1	21	0,1,6495	AA,AG,GG		0.0,0.0227,0.0077	benign	122/310	55433006	1,12991	2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433006G>A	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.364G>A	11.37:g.55433006G>A	ENSP00000324769:p.Val122Met	False	False		Somatic	0					p.V122M	NM_001004704.1	NP_001004704.1	WXS	Illumina HiSeq	Phase_I	Q8NH72	OR4C6_HUMAN			1	393	+			122					B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.364G>A	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.830823	0.32329	2.27E-4	0.0	ENSG00000181903	ENST00000314259	T	0.20463	2.07	3.77	2.85	0.33270	GPCR, rhodopsin-like superfamily (1);	0.222920	0.22609	N	0.057844	T	0.19725	0.0474	M	0.69523	2.12	0.21802	N	0.999532	P	0.52170	0.951	B	0.40038	0.317	T	0.27123	-1.0083	10	0.62326	D	0.03	.	4.2775	0.10816	0.219:0.1919:0.5891:0.0	.	122	Q8NH72	OR4C6_HUMAN	M	122	ENSP00000324769:V122M	ENSP00000324769:V122M	V	+	1	0	OR4C6	55189582	0.009000	0.17119	0.983000	0.44433	0.942000	0.58702	0.122000	0.15687	0.604000	0.29930	0.536000	0.68110	GTG		0.547	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	0	NM_001004704		11:55433006
ZNF142	7701	broad.mit.edu	37	2	219503301	219503301	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr2:219503301G>A	ENST00000449707.1	-	10	5246	c.4825C>T	c.(4825-4827)Cgc>Tgc	p.R1609C	ZNF142_ENST00000411696.2_Missense_Mutation_p.R1609C	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1609					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCATGATGGCGCAGGCCAGCA	0.612																																					Colon(170;867 1942 8995 15834 18053)	ENST00000411696.2		NA																	0				breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(4825-4827)Cgc>Tgc		zinc finger protein 142							67.0	76.0	73.0					2																	219503301		2165	4261	6426	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219503301G>A	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.4825C>T	2.37:g.219503301G>A	ENSP00000408643:p.Arg1609Cys	False	False		Somatic	0				ZNF142_ENST00000449707.1_Missense_Mutation_p.R1609C	p.R1609C			WXS	Illumina HiSeq	Phase_I	P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	9	5604	-		Renal(207;0.0474)	1609					Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.4825C>T	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491651	0.84962	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.15952	2.38;2.38	5.83	5.83	0.93111	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.41994	0.1183	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.02156	-1.1204	10	0.38643	T	0.18	-50.1852	20.1133	0.97917	0.0:0.0:1.0:0.0	.	1609;1446	P52746;A8MWU9	ZN142_HUMAN;.	C	1609	ENSP00000408643:R1609C;ENSP00000398798:R1609C	ENSP00000398798:R1609C	R	-	1	0	ZNF142	219211545	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.267000	0.72546	2.758000	0.94735	0.609000	0.83330	CGC		0.612	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	0	NM_005081		2:219503301
POLR3A	11128	broad.mit.edu	37	10	79761987	79761987	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr10:79761987C>A	ENST00000372371.3	-	17	2464	c.2327G>T	c.(2326-2328)aGc>aTc	p.S776I		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	776					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GGTGAGGGGGCTGTTGCTCTT	0.587																																						ENST00000372371.3		NA																	0				breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(2326-2328)aGc>aTc		polymerase (RNA) III (DNA directed) polypeptide A, 155kDa							78.0	63.0	68.0					10																	79761987		2203	4299	6502	SO:0001583	missense	11128				innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	g.chr10:79761987C>A	AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.2327G>T	10.37:g.79761987C>A	ENSP00000361446:p.Ser776Ile	True	False		Somatic	0					p.S776I	NM_007055.3	NP_008986.2	WXS	Illumina HiSeq	Phase_I	O14802	RPC1_HUMAN	Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)		17	2464	-	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		776					Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	37	c.2327G>T	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	C	35	5.579888	0.96565	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.70631	-0.5	5.49	5.49	0.81192	RNA polymerase Rpb1, domain 4 (1);	0.000000	0.85682	D	0.000000	D	0.85969	0.5821	M	0.89658	3.05	0.80722	D	1	D	0.56287	0.975	P	0.59056	0.851	D	0.87645	0.2524	9	.	.	.	-31.3285	19.7347	0.96198	0.0:1.0:0.0:0.0	.	776	O14802	RPC1_HUMAN	I	776	ENSP00000361446:S776I	.	S	-	2	0	POLR3A	79431993	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.206000	0.77891	2.746000	0.94184	0.655000	0.94253	AGC		0.587	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	0	NM_007055		10:79761987
FUK	197258	broad.mit.edu	37	16	70500121	70500121	+	Silent	SNP	C	C	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr16:70500121C>A	ENST00000288078.6	+	5	604	c.372C>A	c.(370-372)gtC>gtA	p.V124V	FUK_ENST00000571514.1_Intron|FUK_ENST00000378912.2_Silent_p.V156V|FUK_ENST00000428974.2_Silent_p.V107V	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	124						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				AAGCCTTGGTCTGCAACCTGG	0.637																																						ENST00000288078.6		NA																	0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23						c.(370-372)gtC>gtA		fucokinase							56.0	63.0	61.0					16																	70500121		2011	4159	6170	SO:0001819	synonymous_variant	197258					cytoplasm	ATP binding|fucokinase activity	g.chr16:70500121C>A		CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.372C>A	16.37:g.70500121C>A		False	False		Somatic	0				FUK_ENST00000571514.1_Intron|FUK_ENST00000428974.2_Silent_p.V107V|FUK_ENST00000378912.2_Silent_p.V156V	p.V124V	NM_145059.2	NP_659496.2	WXS	Illumina HiSeq	Phase_I	Q8N0W3	FUK_HUMAN			5	604	+		Ovarian(137;0.0694)	124					Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Silent	SNP	ENST00000288078.6	37	c.372C>A	CCDS10891.2																																																																																				0.637	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	0	NM_145059		16:70500121
JAG2	3714	broad.mit.edu	37	14	105609113	105609113	+	Silent	SNP	C	C	A	rs3122382	byFrequency	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr14:105609113C>A	ENST00000331782.3	-	26	4039	c.3636G>T	c.(3634-3636)ccG>ccT	p.P1212P	JAG2_ENST00000347004.2_Silent_p.P1174P	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1212					auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CCCAGTGGGCCGGCCTCCCCG	0.672																																						ENST00000331782.3		NA																	0				breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(3634-3636)ccG>ccT		jagged 2							18.0	19.0	18.0					14																	105609113		2193	4296	6489	SO:0001819	synonymous_variant	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105609113C>A	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.3636G>T	14.37:g.105609113C>A		True	False		Somatic	0				JAG2_ENST00000347004.2_Silent_p.P1174P	p.P1212P	NM_002226.4	NP_002217.3	WXS	Illumina HiSeq	Phase_I	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	26	4039	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	1212					Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Silent	SNP	ENST00000331782.3	37	c.3636G>T	CCDS9998.1																																																																																				0.672	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2	0			14:105609113
SLC12A3	6559	broad.mit.edu	37	16	56924262	56924262	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr16:56924262G>A	ENST00000563236.1	+	19	2387	c.2362G>A	c.(2362-2364)Gcg>Acg	p.A788T	SLC12A3_ENST00000262502.5_Missense_Mutation_p.A787T|SLC12A3_ENST00000566786.1_Missense_Mutation_p.A787T|SLC12A3_ENST00000438926.2_Missense_Mutation_p.A788T			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	788					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GATGATGCAGGCGCACAGTGA	0.458																																						ENST00000438926.2		NA																	0				breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(2362-2364)Gcg>Acg		solute carrier family 12 (sodium/chloride transporter), member 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						152.0	105.0	121.0					16																	56924262		2198	4300	6498	SO:0001583	missense	0				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56924262G>A		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.2362G>A	16.37:g.56924262G>A	ENSP00000456149:p.Ala788Thr	False	False		Somatic	0				SLC12A3_ENST00000566786.1_Missense_Mutation_p.A787T|SLC12A3_ENST00000563236.1_Missense_Mutation_p.A788T|SLC12A3_ENST00000262502.5_Missense_Mutation_p.A787T	p.A788T	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330|NP_001119579.1|NP_001119580.1	WXS	Illumina HiSeq	Phase_I	P55017	S12A3_HUMAN			19	2391	+			788					A8MSJ2|C9JNN9	Missense_Mutation	SNP	ENST00000563236.1	37	c.2362G>A	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.387157	0.25031	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.63	3.62	0.41486	.	0.299899	0.36002	N	0.002841	T	0.43986	0.1272	L	0.38838	1.175	0.40083	D	0.976162	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.002;0.001;0.003	T	0.25363	-1.0134	9	0.27082	T	0.32	.	9.6378	0.39819	0.0777:0.143:0.7794:0.0	.	787;788;788	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	T	787;788	.	ENSP00000262502:A788T	A	+	1	0	SLC12A3	55481763	1.000000	0.71417	0.970000	0.41538	0.411000	0.31082	4.456000	0.60081	0.683000	0.31428	0.655000	0.94253	GCG		0.458	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1	0			16:56924262
POLRMT	5442	broad.mit.edu	37	19	620015	620015	+	Silent	SNP	G	G	C			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:620015G>C	ENST00000588649.2	-	12	2913	c.2829C>G	c.(2827-2829)tcC>tcG	p.S943S	AC005559.2_ENST00000591847.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	943	Mediates interaction with TEFM.				gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGTTGACGGAGGCGGCGC	0.697																																						ENST00000588649.2		NA																	0				cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20						c.(2827-2829)tcC>tcG		polymerase (RNA) mitochondrial (DNA directed)							11.0	12.0	12.0					19																	620015		2166	4264	6430	SO:0001819	synonymous_variant	5442				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr19:620015G>C		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.2829C>G	19.37:g.620015G>C		False	False		Somatic	0					p.S943S	NM_005035.3	NP_005026.3	WXS	Illumina HiSeq	Phase_I	O00411	RPOM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	12	2913	-		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	943			Mediates interaction with TEFM.		O60370	Silent	SNP	ENST00000588649.2	37	c.2829C>G	CCDS12036.1																																																																																				0.697	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	0	NM_005035		19:620015
PTX4	390667	broad.mit.edu	37	16	1536305	1536305	+	Missense_Mutation	SNP	C	C	T	rs139020235	byFrequency	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr16:1536305C>T	ENST00000447419.2	-	3	1097	c.1072G>A	c.(1072-1074)Ggc>Agc	p.G358S	PTX4_ENST00000293922.1_Missense_Mutation_p.G353S|PTX4_ENST00000440447.2_3'UTR			Q96A99	PTX4_HUMAN	pentraxin 4, long	358	Pentaxin.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						TGCCACTGGCCGTCCAGCAGC	0.672													C|||	8	0.00159744	0.0061	0.0	5008	,	,		15960	0.0		0.0	False		,,,				2504	0.0					ENST00000447419.2		NA																	0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(1072-1074)Ggc>Agc		pentraxin 4, long		C	SER/GLY	23,4375	28.1+/-56.4	0,23,2176	29.0	33.0	32.0		1057	-1.3	0.1	16	dbSNP_134	32	0,8596		0,0,4298	yes	missense	PTX4	NM_001013658.1	56	0,23,6474	TT,TC,CC		0.0,0.523,0.177	probably-damaging	353/474	1536305	23,12971	2199	4298	6497	SO:0001583	missense	390667					extracellular region	metal ion binding	g.chr16:1536305C>T		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"""chromosome 16 open reading frame 38"""	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.1072G>A	16.37:g.1536305C>T	ENSP00000445277:p.Gly358Ser	False	False		Somatic	0				PTX4_ENST00000440447.2_3'UTR|PTX4_ENST00000293922.1_Missense_Mutation_p.G353S	p.G358S			WXS	Illumina HiSeq	Phase_I	Q96A99	PTX4_HUMAN			3	1097	-			358			Pentaxin.			Missense_Mutation	SNP	ENST00000447419.2	37	c.1072G>A		.	.	.	.	.	.	.	.	.	.	C	11.16	1.555929	0.27827	0.00523	0.0	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.70399	-0.48;-0.48	5.58	-1.27	0.09347	.	0.344788	0.28877	N	0.013853	T	0.64011	0.2560	L	0.55103	1.725	0.36413	D	0.863864	P	0.49783	0.928	P	0.56434	0.798	T	0.70011	-0.4989	10	0.72032	D	0.01	.	6.632	0.22861	0.0:0.5363:0.1133:0.3505	.	353	Q96A99-2	.	S	358;353	ENSP00000445277:G358S;ENSP00000293922:G353S	ENSP00000293922:G353S	G	-	1	0	PTX4	1476306	0.000000	0.05858	0.060000	0.19600	0.388000	0.30384	0.231000	0.17872	-0.153000	0.11137	-0.878000	0.02970	GGC		0.672	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	0	NM_001013658		16:1536305
ATAD3A	55210	broad.mit.edu	37	1	1447653	1447653	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:1447653C>A	ENST00000378755.5	+	1	99	c.5C>A	c.(4-6)tCg>tAg	p.S2*	ATAD3A_ENST00000378756.3_Nonsense_Mutation_p.S2*|ATAD3A_ENST00000536055.1_5'Flank	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	2	Required for interaction with the inner surface of the mitochondrial outer membrane.				cell growth (GO:0016049)|negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		GCGAGCATGTCGTGGCTCTTC	0.786																																						ENST00000378755.5		NA																	0				endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(4-6)tCg>tAg		ATPase family, AAA domain containing 3A							3.0	5.0	4.0					1																	1447653		1700	3711	5411	SO:0001587	stop_gained	55210						ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr1:1447653C>A	AK025865	CCDS31.1, CCDS53259.1, CCDS53260.1	1p36.33	2010-04-21		2007-02-08	ENSG00000197785	ENSG00000197785		"""ATPases / AAA-type"""	25567	protein-coding gene	gene with protein product		612316				12477932	Standard	NM_018188		Approved	FLJ10709	uc001afz.2	Q9NVI7	OTTHUMG00000000575	ENST00000378755.5:c.5C>A	1.37:g.1447653C>A	ENSP00000368030:p.Ser2*	False	False		Somatic	0				ATAD3A_ENST00000378756.3_Nonsense_Mutation_p.S2*	p.S2*	NM_018188.3	NP_060658.3	WXS	Illumina HiSeq	Phase_I	Q9NVI7	ATD3A_HUMAN		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)	1	99	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	2					B3KPB3|D2K8Q1|G3V1I6|Q5SV23|Q8N275|Q96A50	Nonsense_Mutation	SNP	ENST00000378755.5	37	c.5C>A	CCDS31.1	.	.	.	.	.	.	.	.	.	.	c	37	6.121231	0.97300	.	.	ENSG00000197785	ENST00000378756;ENST00000378755	.	.	.	3.98	3.98	0.46160	.	0.133058	0.52532	D	0.000063	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.6121	0.68522	0.0:1.0:0.0:0.0	.	.	.	.	X	2	.	ENSP00000368030:S2X	S	+	2	0	ATAD3A	1437516	1.000000	0.71417	0.992000	0.48379	0.499000	0.33736	3.954000	0.56708	1.749000	0.51849	0.400000	0.26472	TCG		0.786	ATAD3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000001365.1	0	NM_018188		1:1447653
LRRC7	57554	broad.mit.edu	37	1	70486728	70486728	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:70486728G>A	ENST00000035383.5	+	14	1377	c.1347G>A	c.(1345-1347)tgG>tgA	p.W449*	RP11-181B18.1_ENST00000425754.1_RNA|LRRC7_ENST00000310961.5_Nonsense_Mutation_p.W454*|RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	449						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CTACACTGTGGGAAGAGCAGA	0.348																																						ENST00000310961.5		NA																	0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(1360-1362)tgG>tgA		leucine rich repeat containing 7							81.0	78.0	79.0					1																	70486728		2203	4300	6503	SO:0001587	stop_gained	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70486728G>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.1347G>A	1.37:g.70486728G>A	ENSP00000035383:p.Trp449*	True	False		Somatic	0				RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000415775.2_5'UTR|RP11-181B18.1_ENST00000425754.1_RNA|LRRC7_ENST00000035383.5_Nonsense_Mutation_p.W449*	p.W454*			WXS	Illumina HiSeq	Phase_I	Q96NW7	LRRC7_HUMAN			17	1780	+			449					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Nonsense_Mutation	SNP	ENST00000035383.5	37	c.1362G>A	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	38	6.726602	0.97792	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.8773	0.92343	0.0:0.0:1.0:0.0	.	.	.	.	X	454;449;272	.	ENSP00000035383:W449X	W	+	3	0	LRRC7	70259316	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.399000	0.97285	2.689000	0.91719	0.655000	0.94253	TGG		0.348	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	0	NM_020794		1:70486728
STK36	27148	broad.mit.edu	37	2	219545333	219545333	+	Silent	SNP	C	C	A	rs199949532		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr2:219545333C>A	ENST00000295709.3	+	10	1423	c.1144C>A	c.(1144-1146)Cgg>Agg	p.R382R	STK36_ENST00000392105.3_Silent_p.R382R|STK36_ENST00000440309.1_Silent_p.R382R|STK36_ENST00000392106.2_Silent_p.R382R	NM_015690.4	NP_056505.2			serine/threonine kinase 36											biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CAGGGAAAACCGGACCACCCC	0.552																																						ENST00000295709.3		NA																	0				biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52						c.(1144-1146)Cgg>Agg		serine/threonine kinase 36							46.0	51.0	49.0					2																	219545333		2203	4300	6503	SO:0001819	synonymous_variant	27148				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding	g.chr2:219545333C>A	AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"""fused homolog (Drosophila)"""	607652	"""serine/threonine kinase 36 (fused homolog, Drosophila)"""			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.1144C>A	2.37:g.219545333C>A		False	False		Somatic	0				STK36_ENST00000392105.3_Silent_p.R382R|STK36_ENST00000392106.2_Silent_p.R382R|STK36_ENST00000440309.1_Silent_p.R382R	p.R382R	NM_015690.4	NP_056505.2	WXS	Illumina HiSeq	Phase_I	Q9NRP7	STK36_HUMAN		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)	10	1423	+		Renal(207;0.0915)	382						Silent	SNP	ENST00000295709.3	37	c.1144C>A	CCDS2421.1																																																																																				0.552	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2	0			2:219545333
TMX1	81542	broad.mit.edu	37	14	51716045	51716045	+	Splice_Site	SNP	A	A	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr14:51716045A>T	ENST00000457354.2	+	5	570	c.445A>T	c.(445-447)Atg>Ttg	p.M149L		NM_030755.4	NP_110382.3	Q9H3N1	TMX1_HUMAN	thioredoxin-related transmembrane protein 1	149					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	disulfide oxidoreductase activity (GO:0015036)|protein disulfide isomerase activity (GO:0003756)			endometrium(2)|large_intestine(2)|urinary_tract(1)	5						TATTTTTAGGATGAGTAGTAT	0.284																																						ENST00000457354.2		NA																	0				endometrium(2)|large_intestine(2)|urinary_tract(1)	5						c.(445-447)Atg>Ttg		thioredoxin-related transmembrane protein 1							92.0	87.0	89.0					14																	51716045		1807	4062	5869	SO:0001630	splice_region_variant	81542				anti-apoptosis|cell proliferation|cell redox homeostasis|DNA replication|electron transport chain|ER to Golgi vesicle-mediated transport|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction	endoplasmic reticulum membrane|integral to membrane|membrane fraction	arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity	g.chr14:51716045A>T	AB048246	CCDS41953.1	14q22.1	2011-10-19	2009-02-23	2009-02-23				"""Protein disulfide isomerases"""	15487	protein-coding gene	gene with protein product	"""thioredoxin-related transmembrane protein"", ""protein disulfide isomerase family A, member 11"""	610527	"""thioredoxin domain-containing"", ""thioredoxin domain containing"", ""thioredoxin domain containing 1"""	TXNDC, TXNDC1		11152479	Standard	NM_030755		Approved	TMX, PDIA11	uc001wza.4	Q9H3N1		ENST00000457354.2:c.444-1A>T	14.37:g.51716045A>T		False	False		Somatic	0					p.M149L	NM_030755.4	NP_110382.3	WXS	Illumina HiSeq	Phase_I	Q9H3N1	TMX1_HUMAN			5	570	+			149					B2R7A4|Q8N487|Q8NBN5|Q9Y4T6	Splice_Site	SNP	ENST00000457354.2	37	c.445A>T	CCDS41953.1	.	.	.	.	.	.	.	.	.	.	A	19.60	3.858882	0.71834	.	.	ENSG00000139921	ENST00000457354	T	0.63913	-0.07	5.75	5.75	0.90469	Thioredoxin-like fold (1);	0.070753	0.85682	D	0.000000	T	0.65312	0.2679	M	0.66506	2.035	0.58432	D	0.999995	P;P	0.45283	0.537;0.855	B;P	0.48334	0.391;0.574	T	0.64015	-0.6506	10	0.28530	T	0.3	-22.9158	10.7708	0.46321	0.8579:0.0:0.0:0.1421	.	65;149	B4DZX7;Q9H3N1	.;TMX1_HUMAN	L	149	ENSP00000393316:M149L	ENSP00000393316:M149L	M	+	1	0	TMX1	50785795	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.210000	0.65214	2.185000	0.69588	0.533000	0.62120	ATG		0.284	TMX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411206.1	0	NM_030755	Missense_Mutation	14:51716045
AGBL2	79841	broad.mit.edu	37	11	47684620	47684620	+	Silent	SNP	T	T	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:47684620T>A	ENST00000525123.1	-	18	2778	c.2493A>T	c.(2491-2493)tcA>tcT	p.S831S	AGBL2_ENST00000357610.3_Silent_p.S833S|AGBL2_ENST00000298861.4_Silent_p.S831S	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	831						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						GGGTGGCCATTGATGGGTCCA	0.353																																						ENST00000525123.1		NA																	0				NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						c.(2491-2493)tcA>tcT		ATP/GTP binding protein-like 2							131.0	140.0	137.0					11																	47684620		2201	4298	6499	SO:0001819	synonymous_variant	79841				proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding	g.chr11:47684620T>A		CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"""cytoplasmic carboxypeptidase 2"""					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.2493A>T	11.37:g.47684620T>A		False	False		Somatic	0				AGBL2_ENST00000357610.3_Silent_p.S833S|AGBL2_ENST00000298861.4_Silent_p.S831S	p.S831S	NM_024783.3	NP_079059.2	WXS	Illumina HiSeq	Phase_I	Q5U5Z8	CBPC2_HUMAN			18	2778	-			831					A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Silent	SNP	ENST00000525123.1	37	c.2493A>T	CCDS7944.1																																																																																				0.353	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	0	NM_024783		11:47684620
SULT1C2	6819	broad.mit.edu	37	2	108917367	108917367	+	Silent	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr2:108917367G>A	ENST00000437390.2	+	4	570	c.393G>A	c.(391-393)ccG>ccA	p.P131P	SULT1C2_ENST00000326853.5_Silent_p.P128P|SULT1C2_ENST00000409880.1_Intron|SULT1C2_ENST00000251481.6_Silent_p.P117P			O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	123					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TGCTGCCACCGTCTTTCTGGG	0.488																																						ENST00000326853.5		NA																	0				NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(382-384)ccG>ccA		sulfotransferase family, cytosolic, 1C, member 2							147.0	160.0	156.0					2																	108917367		2203	4300	6503	SO:0001819	synonymous_variant	6819				3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity	g.chr2:108917367G>A	U66036, AF186255	CCDS2075.1, CCDS2076.1	2q12.3	2010-09-30	2007-03-16	2007-03-16	ENSG00000198203	ENSG00000198203		"""Sulfotransferases, cytosolic"""	11456	protein-coding gene	gene with protein product		602385	"""sulfotransferase family, cytosolic, 1C, member 1"""	SULT1C1		9169148, 10783263	Standard	NM_001056		Approved	ST1C1	uc002tdx.3	O00338	OTTHUMG00000153215	ENST00000437390.2:c.393G>A	2.37:g.108917367G>A		False	False		Somatic	0				SULT1C2_ENST00000409880.1_Intron|SULT1C2_ENST00000251481.6_Silent_p.P117P|SULT1C2_ENST00000437390.2_Silent_p.P131P	p.P128P	NM_176825.2	NP_789795.1	WXS	Illumina HiSeq	Phase_I	O00338	ST1C2_HUMAN			5	837	+			117		Y -> H (in dbSNP:rs17036091).			Q069I8|Q08AS5|Q53S63	Silent	SNP	ENST00000437390.2	37	c.384G>A		.	.	.	.	.	.	.	.	.	.	G	6.403	0.442392	0.12164	.	.	ENSG00000198203	ENST00000438339;ENST00000409067	T	0.07021	3.23	4.31	-2.98	0.05513	.	.	.	.	.	T	0.06005	0.0156	.	.	.	0.35515	D	0.800953	.	.	.	.	.	.	T	0.44982	-0.9292	5	.	.	.	.	2.1177	0.03718	0.4494:0.1239:0.3063:0.1205	.	.	.	.	I	97;114	ENSP00000401996:V97I	.	V	+	1	0	SULT1C2	108283799	0.000000	0.05858	0.267000	0.24556	0.795000	0.44927	-2.523000	0.00949	-0.761000	0.04670	-0.312000	0.09012	GTC		0.488	SULT1C2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000329969.2	0	NM_176825		2:108917367
MED16	10025	broad.mit.edu	37	19	879935	879935	+	Splice_Site	SNP	A	A	G			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:879935A>G	ENST00000589119.1	-	7	1353		c.e7+1		MED16_ENST00000269814.4_Splice_Site|MED16_ENST00000325464.1_Splice_Site|MED16_ENST00000312090.6_Splice_Site|MED16_ENST00000395808.3_Splice_Site|MED16_ENST00000606828.1_Intron			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16						androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCAGCTCACCTTCCCGTG	0.667																																						ENST00000312090.6		NA																	0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.e8+1		mediator complex subunit 16							12.0	11.0	11.0					19																	879935		2146	4253	6399	SO:0001630	splice_region_variant	10025				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	g.chr19:879935A>G	AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"""WD repeat domain containing"""	17556	protein-coding gene	gene with protein product		604062	"""thyroid hormone receptor associated protein 5"""	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.1353+1T>C	19.37:g.879935A>G		False	False		Somatic	0				MED16_ENST00000325464.1_Splice_Site|MED16_ENST00000606828.1_Intron|MED16_ENST00000395808.3_Splice_Site|MED16_ENST00000269814.4_Splice_Site|MED16_ENST00000589119.1_Splice_Site				WXS	Illumina HiSeq	Phase_I	Q9Y2X0	MED16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1504	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	NA					Q6PJT2|Q96AD4|Q96I35|Q9Y652	Splice_Site	SNP	ENST00000589119.1	37		CCDS12047.1	.	.	.	.	.	.	.	.	.	.	A	13.96	2.394216	0.42410	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808;ENST00000269814;ENST00000534906;ENST00000537596;ENST00000540679;ENST00000538572;ENST00000424039	.	.	.	3.91	3.91	0.45181	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2279	0.54472	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MED16	830935	1.000000	0.71417	0.956000	0.39512	0.330000	0.28571	8.281000	0.89905	1.544000	0.49359	0.443000	0.29094	.		0.667	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	0	NM_005481	Intron	19:879935
TRPM4	54795	broad.mit.edu	37	19	49713525	49713525	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:49713525G>A	ENST00000252826.5	+	21	3317	c.3191G>A	c.(3190-3192)cGc>cAc	p.R1064H	TRPM4_ENST00000355712.5_Missense_Mutation_p.R710H|TRPM4_ENST00000427978.2_Missense_Mutation_p.R919H	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	1064					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CAGCGTTACCGCCTCATCCGG	0.607																																						ENST00000252826.5		NA																	0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.(3190-3192)cGc>cAc		transient receptor potential cation channel, subfamily M, member 4							82.0	78.0	79.0					19																	49713525		2203	4300	6503	SO:0001583	missense	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49713525G>A	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.3191G>A	19.37:g.49713525G>A	ENSP00000252826:p.Arg1064His	False	False		Somatic	0				TRPM4_ENST00000427978.2_Missense_Mutation_p.R919H|TRPM4_ENST00000355712.5_Missense_Mutation_p.R710H	p.R1064H	NM_017636.3	NP_060106.2	WXS	Illumina HiSeq	Phase_I	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	21	3317	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	1064					A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	c.3191G>A	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.803763	0.50315	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.43294	0.95;0.95;0.95	5.41	5.41	0.78517	.	0.224765	0.45361	D	0.000374	T	0.24812	0.0602	L	0.28458	0.855	0.27576	N	0.949747	P;P;P;P	0.43519	0.809;0.575;0.575;0.626	B;B;B;B	0.34722	0.092;0.188;0.123;0.092	T	0.16660	-1.0395	10	0.22109	T	0.4	-22.6616	8.6965	0.34298	0.1643:0.0:0.8357:0.0	.	710;890;919;1064	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	H	1064;919;710	ENSP00000252826:R1064H;ENSP00000407492:R919H;ENSP00000347944:R710H	ENSP00000252826:R1064H	R	+	2	0	TRPM4	54405337	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	3.257000	0.51500	2.704000	0.92352	0.491000	0.48974	CGC		0.607	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	0	NM_017636		19:49713525
DYNC2H1	79659	broad.mit.edu	37	11	103175414	103175414	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:103175414C>A	ENST00000375735.2	+	77	11491	c.11347C>A	c.(11347-11349)Cat>Aat	p.H3783N	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.H3790N|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3783	AAA 6. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GAAGAACTTACATCTTGTGGT	0.398																																						ENST00000375735.2		NA																	0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(11347-11349)Cat>Aat		dynein, cytoplasmic 2, heavy chain 1							100.0	99.0	99.0					11																	103175414		1871	4107	5978	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103175414C>A	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.11347C>A	11.37:g.103175414C>A	ENSP00000364887:p.His3783Asn	False	False		Somatic	0				DYNC2H1_ENST00000398093.3_Missense_Mutation_p.H3790N|DYNC2H1_ENST00000334267.7_Intron	p.H3783N	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	WXS	Illumina HiSeq	Phase_I	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	77	11491	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	3783			AAA 6 (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.11347C>A	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.549973	0.86127	.	.	ENSG00000187240	ENST00000375735;ENST00000398093;ENST00000540621	T;T	0.34275	1.37;1.37	5.37	5.37	0.77165	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.69691	0.3139	M	0.92738	3.34	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76071	0.982;0.987	T	0.77544	-0.2548	10	0.87932	D	0	.	17.6563	0.88179	0.0:1.0:0.0:0.0	.	3783;3790	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	N	3783;3790;29	ENSP00000364887:H3783N;ENSP00000381167:H3790N	ENSP00000364887:H3783N	H	+	1	0	DYNC2H1	102680624	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.557000	0.82243	2.687000	0.91594	0.655000	0.94253	CAT		0.398	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	0	XM_370652		11:103175414
PXT1	222659	broad.mit.edu	37	6	36368246	36368246	+	Silent	SNP	A	A	G			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr6:36368246A>G	ENST00000454782.2	-	4	768	c.285T>C	c.(283-285)caT>caC	p.H95H		NM_152990.3	NP_694535.2	Q8NFP0	PXT1_HUMAN	peroxisomal, testis specific 1	95					positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|peroxisome (GO:0005777)											GAACCATCCTATGATCAATGT	0.507																																						ENST00000454782.2		NA																	0					NA						c.(283-285)caT>caC		peroxisomal, testis specific 1							257.0	207.0	224.0					6																	36368246		2203	4300	6503	SO:0001819	synonymous_variant	222659					peroxisome		g.chr6:36368246A>G	AF486827	CCDS4820.2	6p21.31	2004-04-30			ENSG00000179165	ENSG00000179165			18312	protein-coding gene	gene with protein product							Standard	NM_152990		Approved	STEPP	uc003omd.2	Q8NFP0	OTTHUMG00000159815	ENST00000454782.2:c.285T>C	6.37:g.36368246A>G		False	False		Somatic	0					p.H95H	NM_152990.3	NP_694535.2	WXS	Illumina HiSeq	Phase_I	Q8NFP0	PXT1_HUMAN			4	768	-			12					J3KR74	Silent	SNP	ENST00000454782.2	37	c.285T>C	CCDS4820.2	.	.	.	.	.	.	.	.	.	.	A	4.071	0.011025	0.07912	.	.	ENSG00000179165	ENST00000459696	.	.	.	4.9	-4.38	0.03622	.	.	.	.	.	T	0.10121	0.0248	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32188	-0.9916	4	.	.	.	-6.1218	5.9208	0.19080	0.2775:0.2882:0.4342:0.0	.	.	.	.	T	19	.	.	I	-	2	0	PXT1	36476224	0.000000	0.05858	0.003000	0.11579	0.737000	0.42083	-1.593000	0.02096	-0.991000	0.03476	0.454000	0.30748	ATA		0.507	PXT1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000357516.2	0	NM_152990		6:36368246
UBQLN2	29978	broad.mit.edu	37	X	56590932	56590932	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chrX:56590932C>G	ENST00000338222.5	+	1	907	c.626C>G	c.(625-627)cCa>cGa	p.P209R		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	209					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						ATGGCTAATCCACAGATGCAG	0.463																																					Esophageal Squamous(104;218 1492 6022 10838 28884)	ENST00000338222.5		NA																	0				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						c.(625-627)cCa>cGa		ubiquilin 2							64.0	61.0	62.0					X																	56590932		2203	4300	6503	SO:0001583	missense	29978					cytoplasm|nucleus|plasma membrane	binding	g.chrX:56590932C>G	AF189009	CCDS14374.1	Xp11.21	2014-09-17			ENSG00000188021	ENSG00000188021		"""Ubiquilin family"""	12509	protein-coding gene	gene with protein product	"""NEDD4 binding protein 4"""	300264				10675567	Standard	NM_013444		Approved	Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, PLIC-2, N4BP4, PLIC2	uc004dus.3	Q9UHD9	OTTHUMG00000021669	ENST00000338222.5:c.626C>G	X.37:g.56590932C>G	ENSP00000345195:p.Pro209Arg	False	False		Somatic	0					p.P209R	NM_013444.3	NP_038472.2	WXS	Illumina HiSeq	Phase_I	Q9UHD9	UBQL2_HUMAN			1	907	+			209					O94798|Q5D027|Q9H3W6|Q9HAZ4	Missense_Mutation	SNP	ENST00000338222.5	37	c.626C>G	CCDS14374.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.988504	0.53934	.	.	ENSG00000188021	ENST00000338222;ENST00000535171	T	0.29655	1.56	4.89	4.89	0.63831	Heat shock chaperonin-binding (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000003	T	0.64360	0.2591	M	0.93106	3.38	0.80722	D	1	D;D	0.89917	0.969;1.0	P;D	0.97110	0.903;1.0	T	0.73675	-0.3908	10	0.72032	D	0.01	-5.6539	14.6449	0.68754	0.0:1.0:0.0:0.0	.	209;209	B4DZF1;Q9UHD9	.;UBQL2_HUMAN	R	209	ENSP00000345195:P209R	ENSP00000345195:P209R	P	+	2	0	UBQLN2	56607657	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	7.604000	0.82830	2.428000	0.82296	0.600000	0.82982	CCA		0.463	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056891.1	0	NM_013444		X:56590932
DOCK3	1795	broad.mit.edu	37	3	51370621	51370621	+	Missense_Mutation	SNP	G	G	A	rs370436668	byFrequency	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr3:51370621G>A	ENST00000266037.9	+	35	3571	c.3548G>A	c.(3547-3549)cGc>cAc	p.R1183H		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1183					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GAAACATGGCGCGAGACCGGC	0.532													G|||	2	0.000399361	0.0008	0.0	5008	,	,		18678	0.0		0.0	False		,,,				2504	0.001					ENST00000266037.9		NA																	0				breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(3547-3549)cGc>cAc		dedicator of cytokinesis 3		G	HIS/ARG	0,3882		0,0,1941	119.0	120.0	120.0		3548	6.1	1.0	3		120	1,8275		0,1,4137	no	missense	DOCK3	NM_004947.4	29	0,1,6078	AA,AG,GG		0.0121,0.0,0.0082	probably-damaging	1183/2031	51370621	1,12157	1941	4138	6079	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51370621G>A	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.3548G>A	3.37:g.51370621G>A	ENSP00000266037:p.Arg1183His	False	False		Somatic	0					p.R1183H	NM_004947.4	NP_004938.1	WXS	Illumina HiSeq	Phase_I	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	35	3571	+			1183			DHR-2.		O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.3548G>A	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	34	5.411305	0.96072	0.0	1.21E-4	ENSG00000088538	ENST00000266037	T	0.52057	0.68	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.67287	0.2877	M	0.66297	2.02	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.57312	-0.7833	10	0.18276	T	0.48	.	20.6243	0.99512	0.0:0.0:1.0:0.0	.	1183	Q8IZD9	DOCK3_HUMAN	H	1183	ENSP00000266037:R1183H	ENSP00000266037:R1183H	R	+	2	0	DOCK3	51345661	1.000000	0.71417	0.978000	0.43139	0.895000	0.52256	9.869000	0.99810	2.879000	0.98667	0.650000	0.86243	CGC		0.532	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	0	NM_004947		3:51370621
WASL	8976	broad.mit.edu	37	7	123349222	123349222	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:123349222G>A	ENST00000223023.4	-	2	505	c.173C>T	c.(172-174)tCa>tTa	p.S58L		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	58	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCACTTCTTTGACCACATACA	0.338																																						ENST00000223023.4		NA																	0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(172-174)tCa>tTa		Wiskott-Aldrich syndrome-like							86.0	80.0	82.0					7																	123349222		2203	4300	6503	SO:0001583	missense	8976				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity	g.chr7:123349222G>A	D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.173C>T	7.37:g.123349222G>A	ENSP00000223023:p.Ser58Leu	True	False		Somatic	0					p.S58L	NM_003941.2	NP_003932.3	WXS	Illumina HiSeq	Phase_I	O00401	WASL_HUMAN			2	505	-			58			WH1.		A1JUI9|Q7Z746	Missense_Mutation	SNP	ENST00000223023.4	37	c.173C>T	CCDS34743.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.860939	0.71834	.	.	ENSG00000106299	ENST00000223023	D	0.99422	-5.88	5.58	4.68	0.58851	EVH1 (3);Pleckstrin homology-type (1);	0.524667	0.20818	N	0.085115	D	0.97867	0.9299	L	0.42245	1.32	0.29642	N	0.84463	B	0.02656	0.0	B	0.08055	0.003	D	0.95667	0.8720	10	0.54805	T	0.06	-15.64	10.472	0.44642	0.1453:0.0:0.8547:0.0	.	58	O00401	WASL_HUMAN	L	58	ENSP00000223023:S58L	ENSP00000223023:S58L	S	-	2	0	WASL	123136458	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.849000	0.48286	2.789000	0.95967	0.655000	0.94253	TCA		0.338	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	0	NM_003941		7:123349222
CSGALNACT1	55790	broad.mit.edu	37	8	19363332	19363332	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr8:19363332C>T	ENST00000454498.2	-	4	1027	c.14G>A	c.(13-15)cGc>cAc	p.R5H	CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.R5H|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.R5H|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.R5H|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.R5H	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	5					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		CAGCCCCCGGCGAACCATCAT	0.602																																						ENST00000454498.2		NA																	0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(13-15)cGc>cAc		chondroitin sulfate N-acetylgalactosaminyltransferase 1							82.0	87.0	85.0					8																	19363332		2202	4300	6502	SO:0001583	missense	55790				anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity	g.chr8:19363332C>T	AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"""Beta 4-glycosyltransferases"""	24290	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase"""					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.14G>A	8.37:g.19363332C>T	ENSP00000411816:p.Arg5His	False	False		Somatic	0				CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.R5H|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.R5H|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.R5H|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.R5H	p.R5H	NM_001130518.1	NP_001123990.1	WXS	Illumina HiSeq	Phase_I	Q8TDX6	CGAT1_HUMAN		Colorectal(111;0.182)	4	1027	-			5					B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Missense_Mutation	SNP	ENST00000454498.2	37	c.14G>A	CCDS6010.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259207	0.95368	.	.	ENSG00000147408	ENST00000454498;ENST00000332246;ENST00000311540;ENST00000522854;ENST00000544602;ENST00000523262;ENST00000517494;ENST00000520003;ENST00000524213	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	5.84	5.84	0.93424	.	0.061588	0.64402	D	0.000004	T	0.54822	0.1882	M	0.74881	2.28	0.80722	D	1	D	0.76494	0.999	P	0.60117	0.869	T	0.56643	-0.7945	10	0.87932	D	0	-29.161	18.7017	0.91623	0.0:1.0:0.0:0.0	.	5	Q8TDX6	CGAT1_HUMAN	H	5	ENSP00000411816:R5H;ENSP00000330805:R5H;ENSP00000310891:R5H;ENSP00000429809:R5H;ENSP00000442155:R5H	ENSP00000310891:R5H	R	-	2	0	CSGALNACT1	19407612	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.364000	0.79526	2.779000	0.95612	0.655000	0.94253	CGC		0.602	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1	0	NM_018371		8:19363332
ZNF493	284443	broad.mit.edu	37	19	21606442	21606442	+	Silent	SNP	C	C	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:21606442C>T	ENST00000355504.4	+	2	863	c.597C>T	c.(595-597)ggC>ggT	p.G199G	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Silent_p.G327G	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	199					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)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AAGAATGTGGCAAAGCCTTTA	0.333																																						ENST00000392288.2		NA																	0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(979-981)ggC>ggT		zinc finger protein 493							34.0	38.0	36.0					19																	21606442		2202	4296	6498	SO:0001819	synonymous_variant	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606442C>T	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.597C>T	19.37:g.21606442C>T		True	False		Somatic	0				ZNF493_ENST00000355504.4_Silent_p.G199G|CTD-2561J22.3_ENST00000600810.1_Intron	p.G327G	NM_001076678.2	NP_001070146.1	WXS	Illumina HiSeq	Phase_I	Q6ZR52	ZN493_HUMAN			4	1090	+			199					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Silent	SNP	ENST00000355504.4	37	c.981C>T	CCDS12412.1																																																																																				0.333	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	0	NM_175910		19:21606442
DAGLB	221955	broad.mit.edu	37	7	6465643	6465643	+	Silent	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:6465643G>A	ENST00000297056.6	-	7	1201	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F	DAGLB_ENST00000436575.1_Silent_p.F303F|DAGLB_ENST00000421761.2_Silent_p.F88F|DAGLB_ENST00000425398.2_Silent_p.F215F|DAGLB_ENST00000428902.2_Silent_p.F217F	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	344					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		TGACGTGGATGAAGTCCCTGT	0.532																																						ENST00000297056.6		NA																	0				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26						c.(1030-1032)ttC>ttT		diacylglycerol lipase, beta							122.0	109.0	113.0					7																	6465643		2203	4300	6503	SO:0001819	synonymous_variant	221955				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr7:6465643G>A	AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.1032C>T	7.37:g.6465643G>A		False	False		Somatic	0				DAGLB_ENST00000421761.2_Silent_p.F88F|DAGLB_ENST00000425398.2_Silent_p.F215F|DAGLB_ENST00000428902.2_Silent_p.F217F|DAGLB_ENST00000436575.1_Silent_p.F303F	p.F344F	NM_139179.3	NP_631918.3	WXS	Illumina HiSeq	Phase_I	Q8NCG7	DGLB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)	7	1201	-		Ovarian(82;0.232)	344					A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Silent	SNP	ENST00000297056.6	37	c.1032C>T	CCDS5350.1																																																																																				0.532	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2	0	NM_139179		7:6465643
PNLIP	5406	broad.mit.edu	37	10	118315573	118315573	+	Silent	SNP	C	C	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr10:118315573C>T	ENST00000369221.2	+	9	901	c.873C>T	c.(871-873)atC>atT	p.I291I		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	291					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	CTGATAGCATCGTCAACCCTG	0.433																																						ENST00000369221.2		NA																	0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43						c.(871-873)atC>atT		pancreatic lipase	Bentiromide(DB00522)|Orlistat(DB01083)						213.0	186.0	195.0					10																	118315573		2203	4300	6503	SO:0001819	synonymous_variant	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118315573C>T	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.873C>T	10.37:g.118315573C>T		False	False		Somatic	0					p.I291I	NM_000936.2	NP_000927.1	WXS	Illumina HiSeq	Phase_I	P16233	LIPP_HUMAN		all cancers(201;0.0131)	9	901	+			291					Q5VSQ2	Silent	SNP	ENST00000369221.2	37	c.873C>T	CCDS7594.1																																																																																				0.433	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	0	NM_000936		10:118315573
BHLHB9	80823	broad.mit.edu	37	X	102004308	102004308	+	Missense_Mutation	SNP	G	G	T	rs112563174	byFrequency	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chrX:102004308G>T	ENST00000372735.1	+	4	970	c.385G>T	c.(385-387)Gct>Tct	p.A129S	BHLHB9_ENST00000457056.1_Missense_Mutation_p.A129S|BHLHB9_ENST00000361229.4_Missense_Mutation_p.A129S|BHLHB9_ENST00000448867.1_Missense_Mutation_p.A129S|BHLHB9_ENST00000447531.1_Missense_Mutation_p.A129S			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	129					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGGAGAAGAGGCTGGTAATAG	0.512													G|||	3	0.000794702	0.0023	0.0	3775	,	,		13933	0.0		0.0	False		,,,				2504	0.0					ENST00000372735.1		NA																	0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(385-387)Gct>Tct		basic helix-loop-helix domain containing, class B, 9		G	SER/ALA,SER/ALA,SER/ALA,SER/ALA,SER/ALA,SER/ALA,SER/ALA,SER/ALA	19,3816		0,18,1,1614,570	75.0	70.0	72.0		385,385,385,385,385,385,385,385	1.2	0.1	X	dbSNP_132	72	0,6728		0,0,0,2428,1872	yes	missense,missense,missense,missense,missense,missense,missense,missense	BHLHB9	NM_001142524.1,NM_001142525.1,NM_001142526.1,NM_001142527.1,NM_001142528.1,NM_001142529.1,NM_001142530.1,NM_030639.2	99,99,99,99,99,99,99,99	0,18,1,4042,2442	TT,TG,T,GG,G		0.0,0.4954,0.1799	benign,benign,benign,benign,benign,benign,benign,benign	129/548,129/548,129/548,129/548,129/548,129/548,129/548,129/548	102004308	19,10544	2203	4300	6503	SO:0001583	missense	80823					cytoplasm|nucleus	binding	g.chrX:102004308G>T	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"""Basic helix-loop-helix proteins"", ""Armadillo repeat containing"""	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.385G>T	X.37:g.102004308G>T	ENSP00000361820:p.Ala129Ser	False	False		Somatic	0				BHLHB9_ENST00000457056.1_Missense_Mutation_p.A129S|BHLHB9_ENST00000447531.1_Missense_Mutation_p.A129S|BHLHB9_ENST00000448867.1_Missense_Mutation_p.A129S|BHLHB9_ENST00000361229.4_Missense_Mutation_p.A129S	p.A129S			WXS	Illumina HiSeq	Phase_I	Q6PI77	BHLH9_HUMAN			4	970	+			129					Q9C0G2	Missense_Mutation	SNP	ENST00000372735.1	37	c.385G>T	CCDS14502.1	2	0.0012055455093429777	0	0.0	0	0.0	0	0.0	0	0.0	G	0.419	-0.909449	0.02434	0.004954	0.0	ENSG00000198908	ENST00000457056;ENST00000361229;ENST00000447531;ENST00000448867;ENST00000372735	T;T;T;T;T	0.13538	2.58;2.58;2.58;2.58;2.58	4.24	1.25	0.21368	.	1.339950	0.05332	N	0.528551	T	0.14485	0.0350	L	0.59436	1.845	0.09310	N	1	B	0.34103	0.437	B	0.32090	0.14	T	0.30534	-0.9975	9	.	.	.	-8.1436	5.1928	0.15218	0.2257:0.1632:0.6111:0.0	.	129	Q6PI77	BHLH9_HUMAN	S	129	ENSP00000403226:A129S;ENSP00000354675:A129S;ENSP00000405893:A129S;ENSP00000391722:A129S;ENSP00000361820:A129S	.	A	+	1	0	BHLHB9	101890964	0.010000	0.17322	0.092000	0.20876	0.084000	0.17831	-0.220000	0.09215	0.118000	0.18165	0.529000	0.55759	GCT		0.512	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	0	NM_030639		X:102004308
CFTR	1080	broad.mit.edu	37	7	117250657	117250657	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:117250657G>A	ENST00000003084.6	+	19	3205	c.3073G>A	c.(3073-3075)Gct>Act	p.A1025T	CFTR_ENST00000454343.1_Missense_Mutation_p.A964T|AC000111.6_ENST00000456270.1_RNA	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1025	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	AGTGATAGTGGCTTTTATTAT	0.383									Cystic Fibrosis																													ENST00000003084.6		NA																	0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69						c.(3073-3075)Gct>Act		cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	Bumetanide(DB00887)|Glibenclamide(DB01016)						134.0	119.0	124.0					7																	117250657		2203	4300	6503	SO:0001583	missense	1080	Cystic Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117250657G>A	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.3073G>A	7.37:g.117250657G>A	ENSP00000003084:p.Ala1025Thr	False	False		Somatic	0				AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Missense_Mutation_p.A964T	p.A1025T	NM_000492.3	NP_000483.3	WXS	Illumina HiSeq	Phase_I	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		19	3205	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		1025			ABC transmembrane type-1 2.		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.3073G>A	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	G	9.896	1.205615	0.22205	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.89617	-2.54;-2.54;-2.54	6.16	4.37	0.52481	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.194135	0.56097	N	0.000040	D	0.85767	0.5773	L	0.49571	1.57	0.35828	D	0.825115	B	0.02656	0.0	B	0.12156	0.007	D	0.84020	0.0353	10	0.48119	T	0.1	-3.1277	13.4064	0.60915	0.1273:0.0:0.8727:0.0	.	1025	P13569	CFTR_HUMAN	T	1025;964;995	ENSP00000003084:A1025T;ENSP00000403677:A964T;ENSP00000389119:A995T	ENSP00000003084:A1025T	A	+	1	0	CFTR	117037893	1.000000	0.71417	0.024000	0.17045	0.185000	0.23345	5.733000	0.68571	0.941000	0.37499	-0.157000	0.13467	GCT		0.383	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	0	NM_000492		7:117250657
PRRX1	5396	broad.mit.edu	37	1	170699464	170699464	+	Intron	SNP	G	G	A	rs148536447		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:170699464G>A	ENST00000239461.6	+	3	912				PRRX1_ENST00000367760.3_Missense_Mutation_p.G216R|PRRX1_ENST00000476867.2_Intron	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1						artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)	nucleolus (GO:0005730)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCTTCATAACGGATTCTAACG	0.453																																						ENST00000367760.3		NA																	0				large_intestine(2)|ovary(1)	3						c.(646-648)Gga>Aga		paired related homeobox 1		G	ARG/GLY,	1,4405	2.1+/-5.4	0,1,2202	169.0	169.0	169.0		646,	5.7	1.0	1	dbSNP_134	169	0,8600		0,0,4300	no	missense,intron	PRRX1	NM_006902.3,NM_022716.2	125,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	216/218,	170699464	1,13005	2203	4300	6503	SO:0001627	intron_variant	5396					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:170699464G>A	M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132		"""Homeoboxes / PRD class"""	9142	protein-coding gene	gene with protein product		167420	"""paired mesoderm homeo box 1"""	PMX1		1509260	Standard	NM_006902		Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000239461.6:c.599+3922G>A	1.37:g.170699464G>A		False	False		Somatic	0				PRRX1_ENST00000476867.2_Intron|PRRX1_ENST00000239461.6_Intron	p.G216R	NM_006902.3	NP_008833.1	WXS	Illumina HiSeq	Phase_I	P54821	PRRX1_HUMAN			4	1731	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		0					B5BUM7|O60807	Missense_Mutation	SNP	ENST00000239461.6	37	c.646G>A	CCDS1290.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557335	0.65425	2.27E-4	0.0	ENSG00000116132	ENST00000367760;ENST00000495280	D	0.92299	-3.01	5.67	5.67	0.87782	.	.	.	.	.	D	0.95245	0.8458	.	.	.	0.30000	N	0.816082	D	0.89917	1.0	D	0.87578	0.998	D	0.92454	0.5972	8	0.87932	D	0	.	16.4923	0.84205	0.0:0.0:1.0:0.0	.	216	P54821-2	.	R	216;61	ENSP00000356734:G216R	ENSP00000239461:G216R	G	+	1	0	PRRX1	168966088	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.353000	0.34045	2.677000	0.91161	0.655000	0.94253	GGA		0.453	PRRX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085236.3	0	NM_006902		1:170699464
NUDT14	256281	broad.mit.edu	37	14	105639421	105639421	+	Silent	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr14:105639421G>A	ENST00000392568.2	-	5	699	c.606C>T	c.(604-606)ctC>ctT	p.L202L	NUDT14_ENST00000550912.1_5'UTR|RP11-44N21.4_ENST00000548203.1_RNA	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14	202	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ADP-ribose diphosphatase activity (GO:0047631)|metal ion binding (GO:0046872)|UDP-sugar diphosphatase activity (GO:0008768)			cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		AGATGACGCCGAGGGTCTTGG	0.632										HNSCC(42;0.11)																												ENST00000392568.2		NA																	0				cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14						c.(604-606)ctC>ctT		nudix (nucleoside diphosphate linked moiety X)-type motif 14							79.0	80.0	79.0					14																	105639421		2202	4294	6496	SO:0001819	synonymous_variant	256281					cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity	g.chr14:105639421G>A	AB087802	CCDS10000.1	14q32.33	2013-02-15			ENSG00000183828	ENSG00000183828		"""Nudix motif containing"""	20141	protein-coding gene	gene with protein product		609219				12429023	Standard	NM_177533		Approved	UGPP	uc010tyn.3	O95848	OTTHUMG00000170372	ENST00000392568.2:c.606C>T	14.37:g.105639421G>A		False	False	HNSCC(42;0.11)	Somatic	0				RP11-44N21.4_ENST00000548203.1_RNA|NUDT14_ENST00000550912.1_5'UTR	p.L202L	NM_177533.4	NP_803877.2	WXS	Illumina HiSeq	Phase_I	O95848	NUD14_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	5	699	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	202			Nudix hydrolase.		Q86SJ8	Silent	SNP	ENST00000392568.2	37	c.606C>T	CCDS10000.1																																																																																				0.632	NUDT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074544.4	0	NM_177533		14:105639421
BRPF3	27154	broad.mit.edu	37	6	36182091	36182091	+	Missense_Mutation	SNP	C	C	T	rs148223802	byFrequency	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr6:36182091C>T	ENST00000357641.6	+	8	3170	c.2917C>T	c.(2917-2919)Cgg>Tgg	p.R973W	BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000543502.1_Intron|BRPF3_ENST00000339717.7_Intron|BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000534400.1_Missense_Mutation_p.R973W	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	973					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)	p.R973W(1)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GCGCCACTCCCGGAAGCGGCC	0.617													C|||	7	0.00139776	0.0045	0.0014	5008	,	,		17378	0.0		0.0	False		,,,				2504	0.0					ENST00000357641.6		NA																	1	Substitution - Missense(1)	p.R973W(1)	lung(1)	breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						c.(2917-2919)Cgg>Tgg		bromodomain and PHD finger containing, 3		C	TRP/ARG	16,4388		0,16,2186	38.0	45.0	42.0		2917	5.8	1.0	6	dbSNP_134	42	0,8600		0,0,4300	yes	missense	BRPF3	NM_015695.2	101	0,16,6486	TT,TC,CC		0.0,0.3633,0.123	probably-damaging	973/1206	36182091	16,12988	2202	4300	6502	SO:0001583	missense	27154				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr6:36182091C>T	AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.2917C>T	6.37:g.36182091C>T	ENSP00000350267:p.Arg973Trp	True	False		Somatic	0				BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000339717.7_Intron|BRPF3_ENST00000543502.1_Intron|BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000534400.1_Missense_Mutation_p.R973W	p.R973W	NM_015695.2	NP_056510.2	WXS	Illumina HiSeq	Phase_I	Q9ULD4	BRPF3_HUMAN			8	3170	+			973					A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	ENST00000357641.6	37	c.2917C>T	CCDS34437.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	23.2	4.385814	0.82792	0.003633	0.0	ENSG00000096070	ENST00000357641;ENST00000534400;ENST00000394572	T;T	0.22336	2.16;1.96	5.8	5.8	0.92144	.	0.300838	0.31784	N	0.007072	T	0.39937	0.1097	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.15607	-1.0431	10	0.66056	D	0.02	.	18.2355	0.89948	0.0:1.0:0.0:0.0	.	973	Q9ULD4	BRPF3_HUMAN	W	973;973;387	ENSP00000350267:R973W;ENSP00000436504:R973W	ENSP00000350267:R973W	R	+	1	2	BRPF3	36290069	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	1.620000	0.36976	2.743000	0.94032	0.455000	0.32223	CGG		0.617	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	0	NM_015695		6:36182091
ADAMTSL1	92949	broad.mit.edu	37	9	18753360	18753360	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr9:18753360G>A	ENST00000380548.4	+	16	2410	c.2071G>A	c.(2071-2073)Gtc>Atc	p.V691I		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	691	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GACCAGAGACGTCTTCTGCAG	0.532																																						ENST00000380548.4		NA																	0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(2071-2073)Gtc>Atc		ADAMTS-like 1							71.0	68.0	69.0					9																	18753360		2028	4193	6221	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18753360G>A	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.2071G>A	9.37:g.18753360G>A	ENSP00000369921:p.Val691Ile	False	False		Somatic	0					p.V691I	NM_001040272.5	NP_001035362.3	WXS	Illumina HiSeq	Phase_I	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	16	2410	+			691			TSP type-1 6.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.2071G>A	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801218	0.50315	.	.	ENSG00000178031	ENST00000380548	T	0.54071	0.59	5.85	4.93	0.64822	.	0.332935	0.13323	N	0.396531	T	0.49236	0.1545	M	0.62154	1.92	0.80722	D	1	B	0.34226	0.443	B	0.29524	0.103	T	0.49303	-0.8954	10	0.54805	T	0.06	.	11.3021	0.49311	0.1505:0.0:0.8495:0.0	.	691	Q8N6G6	ATL1_HUMAN	I	691	ENSP00000369921:V691I	ENSP00000369921:V691I	V	+	1	0	ADAMTSL1	18743360	1.000000	0.71417	0.983000	0.44433	0.706000	0.40770	5.786000	0.69006	1.412000	0.46977	0.655000	0.94253	GTC		0.532	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1	0			9:18753360
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	WXS	Illumina HiSeq	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	NM_033360		12:25398284
MYO18B	84700	broad.mit.edu	37	22	26164985	26164985	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr22:26164985G>T	ENST00000407587.2	+	4	1271	c.1102G>T	c.(1102-1104)Gat>Tat	p.D368Y	MYO18B_ENST00000335473.7_Missense_Mutation_p.D368Y|MYO18B_ENST00000536101.1_Missense_Mutation_p.D368Y			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	368						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.D368N(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GTTGGGGGACGATCTGAGAAT	0.552																																						ENST00000335473.7		NA																	1	Substitution - Missense(1)	p.D368N(1)	large_intestine(1)	NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(1102-1104)Gat>Tat		myosin XVIIIB							36.0	40.0	38.0					22																	26164985		2095	4206	6301	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26164985G>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.1102G>T	22.37:g.26164985G>T	ENSP00000386096:p.Asp368Tyr	False	False		Somatic	0				MYO18B_ENST00000536101.1_Missense_Mutation_p.D368Y|MYO18B_ENST00000407587.2_Missense_Mutation_p.D368Y	p.D368Y	NM_032608.5	NP_115997.5	WXS	Illumina HiSeq	Phase_I	Q8IUG5	MY18B_HUMAN			4	1352	+			368					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.1102G>T		.	.	.	.	.	.	.	.	.	.	g	11.39	1.625277	0.28889	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.86769	-2.15;-2.15;-2.17	3.98	0.318	0.15867	.	1.705140	0.04097	N	0.312179	T	0.76948	0.4059	N	0.14661	0.345	0.09310	N	1	B;P;P	0.34909	0.344;0.475;0.475	B;B;B	0.35971	0.106;0.215;0.215	T	0.67225	-0.5724	10	0.33940	T	0.23	.	6.4609	0.21956	0.1491:0.3954:0.4555:0.0	.	368;368;368	Q8IUG5;F5GXR6;F5GYU7	MY18B_HUMAN;.;.	Y	368	ENSP00000441229:D368Y;ENSP00000334563:D368Y;ENSP00000386096:D368Y	ENSP00000334563:D368Y	D	+	1	0	MYO18B	24494985	0.001000	0.12720	0.003000	0.11579	0.090000	0.18270	0.915000	0.28638	0.388000	0.25054	0.306000	0.20318	GAT		0.552	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	0	NM_032608		22:26164985
SMG1	23049	broad.mit.edu	37	16	18882786	18882786	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr16:18882786C>A	ENST00000446231.2	-	16	2614	c.2202G>T	c.(2200-2202)tgG>tgT	p.W734C	SMG1_ENST00000389467.3_Missense_Mutation_p.W734C|snoU13_ENST00000459248.1_RNA			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	734	Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CTTCCAAAGCCCAAGTCATTA	0.338																																						ENST00000446231.2		NA																	0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(2200-2202)tgG>tgT		SMG1 phosphatidylinositol 3-kinase-related kinase							53.0	48.0	50.0					16																	18882786		1812	4083	5895	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18882786C>A	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.2202G>T	16.37:g.18882786C>A	ENSP00000402515:p.Trp734Cys	True	False		Somatic	0				SMG1_ENST00000389467.3_Missense_Mutation_p.W734C	p.W734C			WXS	Illumina HiSeq	Phase_I	Q96Q15	SMG1_HUMAN			16	2614	-			734			Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.2202G>T	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287871	0.80803	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.17691	2.26;2.26	5.21	5.21	0.72293	Armadillo-type fold (1);	0.091723	0.47455	U	0.000236	T	0.31482	0.0798	M	0.65975	2.015	0.80722	D	1	D	0.63046	0.992	P	0.49561	0.615	T	0.08911	-1.0699	10	0.87932	D	0	.	19.116	0.93340	0.0:1.0:0.0:0.0	.	734	Q96Q15	SMG1_HUMAN	C	734	ENSP00000402515:W734C;ENSP00000374118:W734C	ENSP00000374118:W734C	W	-	3	0	SMG1	18790287	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.857000	0.69525	2.589000	0.87451	0.555000	0.69702	TGG		0.338	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	0	NM_015092		16:18882786
VPS13B	157680	broad.mit.edu	37	8	100791108	100791108	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr8:100791108T>C	ENST00000358544.2	+	42	7814	c.7703T>C	c.(7702-7704)gTg>gCg	p.V2568A	VPS13B_ENST00000357162.2_Missense_Mutation_p.V2543A|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2568					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAAAGTGTGGTGAAACCCTTC	0.448																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2		NA																	0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(7702-7704)gTg>gCg		vacuolar protein sorting 13 homolog B (yeast)							134.0	121.0	126.0					8																	100791108		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100791108T>C	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.7703T>C	8.37:g.100791108T>C	ENSP00000351346:p.Val2568Ala	False	False		Somatic	0				VPS13B_ENST00000357162.2_Missense_Mutation_p.V2543A|VPS13B_ENST00000395996.1_3'UTR	p.V2568A	NM_017890.4	NP_060360.3	WXS	Illumina HiSeq	Phase_I	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		42	7814	+	Breast(36;3.73e-07)		2568					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.7703T>C	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.501880	0.85176	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.72835	-0.69;-0.69	5.44	5.44	0.79542	.	0.073471	0.53938	D	0.000049	T	0.81456	0.4826	L	0.59436	1.845	0.80722	D	1	D;D	0.69078	0.994;0.997	D;D	0.72625	0.913;0.978	D	0.83533	0.0092	10	0.87932	D	0	.	15.4875	0.75578	0.0:0.0:0.0:1.0	.	2543;2568	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	A	2543;2568	ENSP00000349685:V2543A;ENSP00000351346:V2568A	ENSP00000349685:V2543A	V	+	2	0	VPS13B	100860284	1.000000	0.71417	0.937000	0.37676	0.896000	0.52359	6.126000	0.71635	2.063000	0.61619	0.533000	0.62120	GTG		0.448	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	0	NM_184042		8:100791108
DOCK4	9732	broad.mit.edu	37	7	111503593	111503593	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:111503593C>T	ENST00000437633.1	-	23	2564	c.2308G>A	c.(2308-2310)Gtg>Atg	p.V770M	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Missense_Mutation_p.V770M	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	770					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.V758M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TCTGAGTACACGGCAGGGAAA	0.478																																						ENST00000428084.1		NA																	1	Substitution - Missense(1)	p.V758M(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(2308-2310)Gtg>Atg		dedicator of cytokinesis 4							42.0	40.0	41.0					7																	111503593		1913	4104	6017	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111503593C>T		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.2308G>A	7.37:g.111503593C>T	ENSP00000404179:p.Val770Met	False	False		Somatic	0				DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Missense_Mutation_p.V770M	p.V770M			WXS	Illumina HiSeq	Phase_I	Q8N1I0	DOCK4_HUMAN			23	2580	-		Acute lymphoblastic leukemia(1;0.0441)	770					O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.2308G>A	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.769804	0.69992	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	T;T	0.03301	3.98;3.98	5.23	5.23	0.72850	.	0.126462	0.52532	D	0.000063	T	0.07548	0.0190	L	0.45352	1.415	0.80722	D	1	D;D;P;D	0.58268	0.97;0.97;0.947;0.982	P;B;B;P	0.46796	0.522;0.418;0.324;0.527	T	0.11372	-1.0590	10	0.54805	T	0.06	.	18.9943	0.92806	0.0:1.0:0.0:0.0	.	770;770;770;770	Q149N2;Q149N5;Q8N1I0;Q8N1I0-2	.;.;DOCK4_HUMAN;.	M	758;770;770;758;769	ENSP00000410746:V770M;ENSP00000404179:V770M	ENSP00000345432:V758M	V	-	1	0	DOCK4	111290829	0.994000	0.37717	0.985000	0.45067	0.832000	0.47134	3.082000	0.50128	2.706000	0.92434	0.563000	0.77884	GTG		0.478	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	0	NM_014705		7:111503593
F10	2159	broad.mit.edu	37	13	113803461	113803461	+	Missense_Mutation	SNP	G	G	A	rs143715673		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr13:113803461G>A	ENST00000375559.3	+	8	1135	c.1097G>A	c.(1096-1098)cGc>cAc	p.R366H	F10_ENST00000409306.1_3'UTR|F10_ENST00000375551.3_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	366	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		R -> C (in FA10D; San Antonio). {ECO:0000269|PubMed:2790181}.		blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	GGCTTCGGGCGCACCCACGAG	0.647																																						ENST00000375559.3		NA																	0				endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18						c.(1096-1098)cGc>cAc		coagulation factor X	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	G	HIS/ARG	0,4406		0,0,2203	40.0	39.0	39.0		1097	3.2	0.9	13	dbSNP_134	39	1,8599	1.2+/-3.3	0,1,4299	no	missense	F10	NM_000504.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	366/489	113803461	1,13005	2203	4300	6503	SO:0001583	missense	2159				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity	g.chr13:113803461G>A		CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.1097G>A	13.37:g.113803461G>A	ENSP00000364709:p.Arg366His	False	False		Somatic	0				F10_ENST00000409306.1_3'UTR|F10_ENST00000375551.3_3'UTR	p.R366H	NM_000504.3	NP_000495.1	WXS	Illumina HiSeq	Phase_I	P00742	FA10_HUMAN	all cancers(43;0.0805)|Epithelial(84;0.231)		8	1135	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	366		R -> C (in FA10D; San Antonio).	Peptidase S1.		Q14340	Missense_Mutation	SNP	ENST00000375559.3	37	c.1097G>A	CCDS9530.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.563420	0.27915	0.0	1.16E-4	ENSG00000126218	ENST00000375559	D	0.89485	-2.52	5.05	3.23	0.37069	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.210237	0.40064	N	0.001187	T	0.80369	0.4610	L	0.44542	1.39	0.44006	D	0.996714	P	0.40731	0.728	B	0.30401	0.115	T	0.76332	-0.2998	10	0.66056	D	0.02	.	7.2696	0.26250	0.155:0.0:0.7094:0.1356	.	366	P00742	FA10_HUMAN	H	366	ENSP00000364709:R366H	ENSP00000364709:R366H	R	+	2	0	F10	112851462	0.591000	0.26824	0.863000	0.33907	0.028000	0.11728	2.825000	0.48096	0.465000	0.27167	-0.311000	0.09066	CGC		0.647	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3	0			13:113803461
COPE	11316	broad.mit.edu	37	19	19016396	19016396	+	Silent	SNP	C	C	A			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:19016396C>A	ENST00000262812.4	-	5	534	c.486G>T	c.(484-486)ctG>ctT	p.L162L	COPE_ENST00000349893.4_Silent_p.L162L|COPE_ENST00000351079.4_Silent_p.L111L|COPE_ENST00000598969.1_5'UTR|COPE_ENST00000600932.1_Silent_p.L185L	NM_007263.3	NP_009194.2	O14579	COPE_HUMAN	coatomer protein complex, subunit epsilon	162					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|membrane organization (GO:0061024)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	11						GGGCGAGGTCCAGGCGGTCCA	0.682																																						ENST00000600932.1		NA																	0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	11						c.(553-555)ctG>ctT		coatomer protein complex, subunit epsilon							69.0	70.0	70.0					19																	19016396		2201	4297	6498	SO:0001819	synonymous_variant	11316				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	binding|structural molecule activity	g.chr19:19016396C>A	AJ131182	CCDS12387.1, CCDS12388.1, CCDS12389.1	19p13.11	2008-02-05				ENSG00000105669			2234	protein-coding gene	gene with protein product		606942				10469566	Standard	NM_007263		Approved	epsilon-COP	uc002nkk.3	O14579		ENST00000262812.4:c.486G>T	19.37:g.19016396C>A		False	False		Somatic	0				COPE_ENST00000349893.4_Silent_p.L162L|COPE_ENST00000262812.4_Silent_p.L162L|COPE_ENST00000598969.1_5'UTR|COPE_ENST00000351079.4_Silent_p.L111L	p.L185L			WXS	Illumina HiSeq	Phase_I	O14579	COPE_HUMAN			6	586	-			162					A6NE29|A6NKA3|O76097|Q6IBB8|Q9UGP6	Silent	SNP	ENST00000262812.4	37	c.555G>T	CCDS12387.1																																																																																				0.682	COPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464801.1	0	NM_007263		19:19016396
CYB5R3	1727	broad.mit.edu	37	22	43032758	43032758	+	Missense_Mutation	SNP	G	G	A	rs371323516		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr22:43032758G>A	ENST00000352397.5	-	2	368	c.116C>T	c.(115-117)cCg>cTg	p.P39L	CYB5R3_ENST00000402438.1_Missense_Mutation_p.P16L|CYB5R3_ENST00000407623.3_Missense_Mutation_p.P16L|CYB5R3_ENST00000361740.4_Missense_Mutation_p.P72L|CYB5R3_ENST00000396303.3_Missense_Mutation_p.P16L|CYB5R3_ENST00000407332.1_Missense_Mutation_p.P16L	NM_000398.6	NP_000389.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3	39					blood circulation (GO:0008015)|cholesterol biosynthetic process (GO:0006695)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|hemoglobin complex (GO:0005833)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|FAD binding (GO:0071949)|flavin adenine dinucleotide binding (GO:0050660)|NAD binding (GO:0051287)			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					Flavin adenine dinucleotide(DB03147)	CTTGATGTCCGGGCTCTCGAG	0.617																																						ENST00000361740.4		NA																	0				kidney(2)|large_intestine(1)|lung(2)|skin(1)	6						c.(214-216)cCg>cTg		cytochrome b5 reductase 3	NADH(DB00157)	G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	0,4406		0,0,2203	58.0	53.0	55.0		116,47,215,47,47	4.8	1.0	22		55	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	CYB5R3	NM_000398.6,NM_001129819.2,NM_001171660.1,NM_001171661.1,NM_007326.4	98,98,98,98,98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	39/302,16/279,72/335,16/279,16/279	43032758	1,13005	2203	4300	6503	SO:0001583	missense	1727				blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity	g.chr22:43032758G>A	M16461	CCDS14040.1, CCDS33658.1, CCDS54535.1	22q13.2	2012-10-02		2005-07-13	ENSG00000100243	ENSG00000100243	1.6.2.2		2873	protein-coding gene	gene with protein product		613213	"""diaphorase (NADH) (cytochrome b-5 reductase)"""	DIA1		2479590, 3268037	Standard	NM_001129819		Approved		uc011aps.2	P00387	OTTHUMG00000150745	ENST00000352397.5:c.116C>T	22.37:g.43032758G>A	ENSP00000338461:p.Pro39Leu	True	False		Somatic	0				CYB5R3_ENST00000407332.1_Missense_Mutation_p.P16L|CYB5R3_ENST00000396303.3_Missense_Mutation_p.P16L|CYB5R3_ENST00000407623.3_Missense_Mutation_p.P16L|CYB5R3_ENST00000352397.5_Missense_Mutation_p.P39L|CYB5R3_ENST00000402438.1_Missense_Mutation_p.P16L	p.P72L	NM_001171660.1	NP_001165131.1	WXS	Illumina HiSeq	Phase_I	P00387	NB5R3_HUMAN			2	214	-			39			FAD-binding FR-type.		B1AHF2|B7Z7L3|O75675|Q8TDL8|Q8WTS8|Q9UEN4|Q9UEN5|Q9UL55|Q9UL56	Missense_Mutation	SNP	ENST00000352397.5	37	c.215C>T	CCDS33658.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365903	0.61513	0.0	1.16E-4	ENSG00000100243	ENST00000361740;ENST00000396303;ENST00000352397;ENST00000407623;ENST00000407332;ENST00000402438;ENST00000438270	D;D;D;D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08;-2.08;-2.08;-2.08	4.82	4.82	0.62117	Riboflavin synthase-like beta-barrel (1);	0.000000	0.85682	D	0.000000	D	0.91774	0.7398	M	0.63843	1.955	0.80722	D	1	D;P	0.89917	1.0;0.853	D;B	0.67103	0.949;0.235	D	0.92692	0.6167	10	0.87932	D	0	-34.6456	15.7659	0.78126	0.0:0.0:1.0:0.0	.	72;39	B7Z7L3;P00387	.;NB5R3_HUMAN	L	72;16;39;16;16;16;16	ENSP00000354468:P72L;ENSP00000379597:P16L;ENSP00000338461:P39L;ENSP00000384834:P16L;ENSP00000384457:P16L;ENSP00000385679:P16L;ENSP00000403439:P16L	ENSP00000338461:P39L	P	-	2	0	CYB5R3	41362702	1.000000	0.71417	1.000000	0.80357	0.547000	0.35210	8.716000	0.91420	2.387000	0.81309	0.313000	0.20887	CCG		0.617	CYB5R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320439.1	0			22:43032758
