#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
MUS81	80198	broad.mit.edu	37	11	65632538	65632539	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	AG	AG	-	-	AG	AG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr11:65632538_65632539delAG	ENST00000308110.4	+	13	1672_1673	c.1323_1324delAG	c.(1321-1326)tcagggfs	p.G442fs	EFEMP2_ENST00000532648.1_5'Flank|MUS81_ENST00000533035.1_Frame_Shift_Del_p.G367fs	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	442					DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	intercellular bridge (GO:0045171)|nucleus (GO:0005634)	3'-flap endonuclease activity (GO:0048257)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		ACCCTGAATCAGGGGCCATGAC	0.589								Homologous recombination																														ENST00000308110.4		NA																	0				endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13						c.(1321-1326)tcagggfs	Homologous recombination	MUS81 structure-specific endonuclease subunit																																				SO:0001589	frameshift_variant	80198				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding	g.chr11:65632538_65632539delAG		CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732			29814	protein-coding gene	gene with protein product	"""SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	606591	"""MUS81 endonuclease homolog (yeast)"", ""MUS81 endonuclease homolog (S. cerevisiae)"""			11741546, 12374758	Standard	NM_025128		Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.1323_1324delAG	11.37:g.65632538_65632539delAG	ENSP00000307853:p.Gly442fs	True	False		Somatic	1				MUS81_ENST00000533035.1_Frame_Shift_Del_p.G367fs	p.G442fs	NM_025128.4	NP_079404.3	WXS	Illumina HiSeq	Phase_I	Q96NY9	MUS81_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	13	1672_1673	+			442					Q9H7D9	Frame_Shift_Del	DEL	ENST00000308110.4	37	c.1323_1324delAG	CCDS8115.1																																																																																				0.589	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390941.3	0	NM_025128		11:65632538
NBPF12	149013	broad.mit.edu	37	1	146459553	146459556	+	Frame_Shift_Del	DEL	GATA	GATA	-			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	GATA	GATA	-	-	GATA	GATA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr1:146459553_146459556delGATA	ENST00000442909.2	+	74	9630_9633	c.8794_8797delGATA	c.(8794-8799)gatagafs	p.DR2932fs	NBPF12_ENST00000446760.2_Intron|NBPF12_ENST00000537773.1_3'UTR|NBPF12_ENST00000309471.8_Intron|NBPF12_ENST00000446080.2_Intron			Q5TAG4	NBPFC_HUMAN	neuroblastoma breakpoint family, member 12	114						cytoplasm (GO:0005737)				ovary(2)	2						GGACTCACTGGATAGATGTTATTC	0.466																																						ENST00000442909.2		NA																	0				ovary(2)	2						c.(8794-8799)gatagafs		neuroblastoma breakpoint family, member 12																																				SO:0001589	frameshift_variant	149013							g.chr1:146459553_146459556delGATA	BG154169	CCDS72881.1	1q21.1	2013-01-17	2011-06-28	2011-06-28	ENSG00000186275	ENSG00000268043		"""neuroblastoma breakpoint family"""	24297	protein-coding gene	gene with protein product		608607	"""KIAA1245"""	KIAA1245		11948409	Standard	NM_001278141		Approved	COAS1		Q5TAG4	OTTHUMG00000043708	ENST00000442909.2:c.8794_8797delGATA	1.37:g.146459553_146459556delGATA	ENSP00000391116:p.Asp2932fs	False	False		Somatic	1				NBPF12_ENST00000537773.1_3'UTR|NBPF12_ENST00000446760.2_Intron|NBPF12_ENST00000309471.8_Intron|NBPF12_ENST00000446080.2_Intron	p.DR2932fs			WXS	Illumina HiSeq	Phase_I					74	9630_9633	+			NA					O95877	Frame_Shift_Del	DEL	ENST00000442909.2	37	c.8794_8797delGATA																																																																																					0.466	NBPF12-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000102086.3	0	XM_003119146		1:146459553
LOC81691	81691	broad.mit.edu	37	16	20824584	20824585	+	In_Frame_Ins	INS	-	-	GATCGGAAG			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr16:20824584_20824585insGATCGGAAG	ENST00000261377.6	+	3	420_421	c.211_212insGATCGGAAG	c.(211-213)aag>aGATCGGAAGag	p.71_71K>RSEE	AC004381.6_ENST00000564274.1_In_Frame_Ins_p.71_71K>RSEE|AC004381.6_ENST00000567297.1_3'UTR|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000348433.6_In_Frame_Ins_p.71_71K>RSEE	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					TGAATTGCTGAAGTATGCAGTT	0.386																																						ENST00000261377.6		NA																	0					NA						c.(211-213)aag>aGATCGGAAGag																																						SO:0001652	inframe_insertion	0							g.chr16:20824584_20824585insGATCGGAAG																												Exception_encountered	16.37:g.20824584_20824585insGATCGGAAG	ENSP00000261377:p.Lys71delinsArgSerGluGlu	False	False		Somatic	0				AC004381.6_ENST00000567297.1_3'UTR|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000564274.1_In_Frame_Ins_p.71_71K>RSEE|AC004381.6_ENST00000348433.6_In_Frame_Ins_p.71_71K>RSEE	p.71_71K>RSEE	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2	WXS	Illumina HiSeq	Phase_I					3	420_421	+			NA						In_Frame_Ins	INS	ENST00000261377.6	37	c.211_212insGATCGGAAG	CCDS10591.1																																																																																				0.386	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254418.2	0			16:20824584
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	byFrequency	TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	CCA	CCA	-	-	CCA	CCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr16:72991713_72991715delCCA	ENST00000268489.5	-	2	3002_3004	c.2330_2332delTGG	c.(2329-2334)gtggct>gct	p.V777del	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	777	Poly-Ala.		V -> A (in dbSNP:rs4788682). {ECO:0000269|PubMed:7592926}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|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)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.V777V(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gccgccgcagccaccgccgccgc	0.635																																						ENST00000268489.5		NA																	1	Substitution - coding silent(1)	p.V777V(1)	lung(1)	NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(2329-2334)gtggct>gct		zinc finger homeobox 3			,	1706,1886		582,542,672					,	5.5	0.1			17	4240,2792		1606,1028,882	no	coding,intron	ZFHX3	NM_006885.3,NM_001164766.1	,	2188,1570,1554	A1A1,A1R,RR		39.7042,47.4944,44.0324	,	,		5946,4678				SO:0001651	inframe_deletion	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72991713_72991715delCCA	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2330_2332delTGG	16.37:g.72991713_72991715delCCA	ENSP00000268489:p.Val777del	False	False		Somatic	1				ZFHX3_ENST00000397992.5_Intron	p.V777del	NM_006885.3	NP_008816.3	WXS	Illumina HiSeq	Phase_I	Q15911	ZFHX3_HUMAN			2	3002_3004	-		Ovarian(137;0.13)	777		V -> A (in dbSNP:rs4788682).	Poly-Ala.		D3DWS8|O15101|Q13719	In_Frame_Del	DEL	ENST00000268489.5	37	c.2330_2332delTGG	CCDS10908.1																																																																																				0.635	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	0	NM_006885		16:72991713
NCOA3	8202	broad.mit.edu	37	20	46279833	46279834	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr20:46279833_46279834delGC	ENST00000371998.3	+	20	3950_3951	c.3759_3760delGC	c.(3757-3762)cagcaafs	p.QQ1253fs	NCOA3_ENST00000341724.6_Frame_Shift_Del_p.QQ1179fs|NCOA3_ENST00000371997.3_Frame_Shift_Del_p.QQ1244fs|NCOA3_ENST00000372004.3_Frame_Shift_Del_p.QQ1249fs			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagca	0.55																																						ENST00000372004.3		NA																	0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3745-3750)cagcaafs		nuclear receptor coactivator 3																																				SO:0001589	frameshift_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279833_46279834delGC	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3759_3760delGC	20.37:g.46279833_46279834delGC	ENSP00000361066:p.Gln1253fs	True	False		Somatic	1				NCOA3_ENST00000341724.6_Frame_Shift_Del_p.QQ1179fs|NCOA3_ENST00000371997.3_Frame_Shift_Del_p.QQ1244fs|NCOA3_ENST00000371998.3_Frame_Shift_Del_p.QQ1253fs	p.QQ1249fs	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	WXS	Illumina HiSeq	Phase_I	Q9Y6Q9	NCOA3_HUMAN			20	3963_3964	+			1253		Missing.	Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Frame_Shift_Del	DEL	ENST00000371998.3	37	c.3747_3748delGC	CCDS13407.1																																																																																				0.550	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	0	NM_006534		20:46279833
TEKT4	150483	broad.mit.edu	37	2	95537525	95537526	+	In_Frame_Ins	INS	-	-	AGATCG	rs199545713	byFrequency	TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr2:95537525_95537526insAGATCG	ENST00000295201.4	+	1	338_339	c.201_202insAGATCG	c.(202-204)gag>AGATCGgag	p.67_68insRS	TEKT4_ENST00000427593.2_In_Frame_Ins_p.67_68insRS|AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	67					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GGCAGCGGCACGAGAGCCAGCA	0.673																																						ENST00000295201.4		NA																	0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(202-204)gag>AGATCGgag		tektin 4																																				SO:0001652	inframe_insertion	150483				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr2:95537525_95537526insAGATCG	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	Exception_encountered	2.37:g.95537525_95537526insAGATCG	ENSP00000295201:p.His67_Glu68insArgSer	False	False		Somatic	0				TEKT4_ENST00000427593.2_In_Frame_Ins_p.67_68insRS|AC097374.2_ENST00000568768.1_RNA	p.67_68insRS	NM_144705.2	NP_653306.1	WXS	Illumina HiSeq	Phase_I	Q8WW24	TEKT4_HUMAN			1	338_339	+			67						In_Frame_Ins	INS	ENST00000295201.4	37	c.201_202insAGATCG	CCDS2005.1																																																																																				0.673	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	0	NM_144705		2:95537525
CFTR	1080	broad.mit.edu	37	7	117188841	117188843	+	In_Frame_Del	DEL	GTT	GTT	-	rs377319489|rs397508194		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	GTT	GTT	-	-	GTT	GTT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr7:117188841_117188843delGTT	ENST00000003084.6	+	10	1488_1490	c.1356_1358delGTT	c.(1354-1359)cagttg>cag	p.L454del	CFTR_ENST00000454343.1_Intron	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	454	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)	AAAGAGGACAGTTGTTGGCGGTT	0.379									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.(1354-1359)cagttg>cag		cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	Bumetanide(DB00887)|Glibenclamide(DB01016)																																			SO:0001651	inframe_deletion	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.chr7:117188841_117188843delGTT	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.1356_1358delGTT	7.37:g.117188844_117188846delGTT	ENSP00000003084:p.Leu454del	False	False		Somatic	2				CFTR_ENST00000454343.1_Intron	p.L454del	NM_000492.3	NP_000483.3	WXS	Illumina HiSeq	Phase_I	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		10	1488_1490	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		454			ABC transporter 1.		Q20BG8|Q20BH2|Q2I0A1|Q2I102	In_Frame_Del	DEL	ENST00000003084.6	37	c.1356_1358delGTT	CCDS5773.1																																																																																				0.379	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	0	NM_000492		7:117188841
SAMD15	161394	broad.mit.edu	37	14	77846757	77846757	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr14:77846757G>A	ENST00000216471.4	+	2	2007	c.1721G>A	c.(1720-1722)cGa>cAa	p.R574Q	SAMD15_ENST00000533095.2_5'UTR	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	574	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.									breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ATCAGTGGCCGAAAACTCATT	0.433																																						ENST00000216471.4		NA																	0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1720-1722)cGa>cAa		sterile alpha motif domain containing 15							150.0	121.0	131.0					14																	77846757		2203	4300	6503	SO:0001583	missense	161394							g.chr14:77846757G>A	AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"""Sterile alpha motif (SAM) domain containing"""	18631	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member A"", ""chromosome 14 open reading frame 174"""	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.1721G>A	14.37:g.77846757G>A	ENSP00000216471:p.Arg574Gln	True	False		Somatic	0				SAMD15_ENST00000533095.2_5'UTR	p.R574Q	NM_001010860.1	NP_001010860.1	WXS	Illumina HiSeq	Phase_I	Q9P1V8	SAM15_HUMAN			2	2007	+			574			SAM.		Q2M3P3	Missense_Mutation	SNP	ENST00000216471.4	37	c.1721G>A	CCDS32126.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.554722	0.45487	.	.	ENSG00000100583	ENST00000216471	D	0.84873	-1.91	5.07	1.12	0.20585	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.859730	0.09191	N	0.836016	T	0.76807	0.4039	L	0.43646	1.37	0.22066	N	0.999384	B	0.24963	0.115	B	0.18263	0.021	T	0.59968	-0.7354	10	0.30854	T	0.27	-5.6633	6.0754	0.19913	0.2325:0.1411:0.6264:0.0	.	574	Q9P1V8	SAM15_HUMAN	Q	574	ENSP00000216471:R574Q	ENSP00000216471:R574Q	R	+	2	0	SAMD15	76916510	0.713000	0.27926	0.996000	0.52242	0.913000	0.54294	-0.007000	0.12810	0.149000	0.19098	0.561000	0.74099	CGA		0.433	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	0	NM_001010860		14:77846757
ZFR	51663	broad.mit.edu	37	5	32407029	32407029	+	Silent	SNP	A	A	T	rs139769264		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr5:32407029A>T	ENST00000265069.8	-	6	984	c.882T>A	c.(880-882)gcT>gcA	p.A294A		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	294	Ala-rich.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A294A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		cagcagcagcagctgctgctg	0.483																																						ENST00000265069.8		NA																	1	Substitution - coding silent(1)	p.A294A(1)	endometrium(1)	breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(880-882)gcT>gcA		zinc finger RNA binding protein		A		0,4406		0,0,2203	35.0	36.0	36.0		882	-7.9	1.0	5	dbSNP_134	36	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZFR	NM_016107.3		0,1,6502	TT,TA,AA		0.0116,0.0,0.0077		294/1075	32407029	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32407029A>T	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.882T>A	5.37:g.32407029A>T		True	False		Somatic	0					p.A294A	NM_016107.3	NP_057191.2	WXS	Illumina HiSeq	Phase_I	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	6	984	-			294			Ala-rich.		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Silent	SNP	ENST00000265069.8	37	c.882T>A	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	A	11.68	1.711849	0.30322	0.0	1.16E-4	ENSG00000056097	ENST00000416900	.	.	.	5.89	-7.9	0.01169	.	.	.	.	.	T	0.27731	0.0682	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33292	-0.9874	5	0.08179	T	0.78	.	8.2119	0.31488	0.2876:0.1859:0.0:0.5266	.	.	.	.	S	175	.	ENSP00000393243:C175S	C	-	1	0	ZFR	32442786	0.089000	0.21612	0.989000	0.46669	0.998000	0.95712	-1.076000	0.03420	-0.596000	0.05821	0.454000	0.30748	TGC		0.483	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1	0			5:32407029
ANAPC7	51434	broad.mit.edu	37	12	110815272	110815272	+	Missense_Mutation	SNP	T	T	C			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr12:110815272T>C	ENST00000455511.3	-	9	1385	c.1385A>G	c.(1384-1386)aAa>aGa	p.K462R	ANAPC7_ENST00000450008.2_Missense_Mutation_p.K462R|ANAPC7_ENST00000481473.1_5'UTR	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	462					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						TAATAATGTTTTGGCTTTCTC	0.423																																						ENST00000455511.3		NA																	0				breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						c.(1384-1386)aAa>aGa		anaphase promoting complex subunit 7							251.0	213.0	226.0					12																	110815272		2203	4300	6503	SO:0001583	missense	51434				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding	g.chr12:110815272T>C	AF191340	CCDS9145.2, CCDS44971.1	12q13.12	2013-01-10			ENSG00000196510	ENSG00000196510		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	17380	protein-coding gene	gene with protein product		606949					Standard	NM_016238		Approved	APC7	uc001tqo.2	Q9UJX3	OTTHUMG00000157009	ENST00000455511.3:c.1385A>G	12.37:g.110815272T>C	ENSP00000394394:p.Lys462Arg	True	False		Somatic	0				ANAPC7_ENST00000450008.2_Missense_Mutation_p.K462R|ANAPC7_ENST00000481473.1_5'UTR	p.K462R	NM_016238.2	NP_057322.2	WXS	Illumina HiSeq	Phase_I	Q9UJX3	APC7_HUMAN			9	1385	-			462					Q96AC4|Q96GF4|Q9BU24|Q9NT16	Missense_Mutation	SNP	ENST00000455511.3	37	c.1385A>G	CCDS9145.2	.	.	.	.	.	.	.	.	.	.	T	25.4	4.634913	0.87760	.	.	ENSG00000196510	ENST00000455511;ENST00000481473;ENST00000486321;ENST00000450008;ENST00000471602	T;T	0.78126	-1.15;0.67	5.79	5.79	0.91817	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.80752	0.4683	L	0.37800	1.135	0.58432	D	0.999998	D;P	0.56035	0.974;0.671	D;B	0.70487	0.969;0.202	T	0.75121	-0.3429	10	0.07482	T	0.82	-10.9948	16.1303	0.81428	0.0:0.0:0.0:1.0	.	462;462	Q9UJX3-2;Q9UJX3	.;APC7_HUMAN	R	462;36;60;462;155	ENSP00000394394:K462R;ENSP00000402314:K462R	ENSP00000402314:K462R	K	-	2	0	ANAPC7	109299655	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.698000	0.84413	2.218000	0.71995	0.533000	0.62120	AAA		0.423	ANAPC7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347075.3	0	NM_016238		12:110815272
DTYMK	1841	broad.mit.edu	37	2	242625239	242625239	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr2:242625239C>T	ENST00000305784.2	-	2	391	c.184G>A	c.(184-186)Gac>Aac	p.D62N	DTYMK_ENST00000493095.1_5'UTR	NM_001165031.1|NM_012145.3	NP_001158503.1|NP_036277.2	P23919	KTHY_HUMAN	deoxythymidylate kinase (thymidylate kinase)	62					cell cycle (GO:0007049)|cell proliferation (GO:0008283)|cellular response to growth factor stimulus (GO:0071363)|dTDP biosynthetic process (GO:0006233)|dTTP biosynthetic process (GO:0006235)|myoblast differentiation (GO:0045445)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside monophosphate phosphorylation (GO:0046940)|nucleotide phosphorylation (GO:0046939)|response to cadmium ion (GO:0046686)|response to estrogen (GO:0043627)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|nucleoside phosphate kinase activity (GO:0050145)|thymidylate kinase activity (GO:0004798)			NS(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		TCCTCCACGTCACTTTTCTTT	0.438																																						ENST00000305784.2		NA																	0				NS(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(184-186)Gac>Aac		deoxythymidylate kinase (thymidylate kinase)							175.0	167.0	170.0					2																	242625239		2203	4296	6499	SO:0001583	missense	1841				cell cycle|cell proliferation|nucleobase, nucleoside and nucleotide interconversion	cytosol	ATP binding|nucleoside phosphate kinase activity|thymidylate kinase activity	g.chr2:242625239C>T	X54729	CCDS2552.1	2q37	2008-02-05			ENSG00000168393	ENSG00000168393	2.7.4.9		3061	protein-coding gene	gene with protein product	"""dTMP kinase"", ""thymidylate (dTMP) kinase"""	188345				2017365, 8024690	Standard	NM_001165031		Approved	CDC8, TYMK, TMPK	uc002wbz.2	P23919	OTTHUMG00000133409	ENST00000305784.2:c.184G>A	2.37:g.242625239C>T	ENSP00000304802:p.Asp62Asn	False	False		Somatic	0				DTYMK_ENST00000493095.1_5'UTR	p.D62N	NM_001165031.1|NM_012145.3	NP_001158503.1|NP_036277.2	WXS	Illumina HiSeq	Phase_I	P23919	KTHY_HUMAN		Epithelial(32;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)	2	391	-		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	62					B7ZW70|Q6FGX1|Q9BUX4	Missense_Mutation	SNP	ENST00000305784.2	37	c.184G>A	CCDS2552.1	.	.	.	.	.	.	.	.	.	.	C	5.106	0.205171	0.09704	.	.	ENSG00000168393	ENST00000305784	T	0.41400	1.0	5.34	3.25	0.37280	.	0.614711	0.18111	N	0.151344	T	0.16085	0.0387	N	0.03881	-0.34	0.21220	N	0.999754	B;B	0.10296	0.003;0.0	B;B	0.12156	0.007;0.003	T	0.17107	-1.0380	10	0.17369	T	0.5	-13.2689	4.2064	0.10490	0.0:0.531:0.2149:0.2541	.	62;62	B7ZW70;P23919	.;KTHY_HUMAN	N	62	ENSP00000304802:D62N	ENSP00000304802:D62N	D	-	1	0	DTYMK	242273912	0.986000	0.35501	0.013000	0.15412	0.357000	0.29423	2.433000	0.44793	1.216000	0.43427	0.655000	0.94253	GAC		0.438	DTYMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257266.2	0	NM_012145		2:242625239
SLX4	84464	broad.mit.edu	37	16	3658718	3658718	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr16:3658718C>T	ENST00000294008.3	-	2	888	c.248G>A	c.(247-249)gGc>gAc	p.G83D		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	83	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TATCTGAGTGCCGTTTGAGGC	0.458								Direct reversal of damage																														ENST00000294008.3		NA																	0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(247-249)gGc>gAc	Direct reversal of damage	SLX4 structure-specific endonuclease subunit							172.0	156.0	162.0					16																	3658718		2197	4300	6497	SO:0001583	missense	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3658718C>T	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.248G>A	16.37:g.3658718C>T	ENSP00000294008:p.Gly83Asp	False	False		Somatic	0					p.G83D	NM_032444.2	NP_115820.2	WXS	Illumina HiSeq	Phase_I	Q8IY92	SLX4_HUMAN			2	888	-			83			Interaction with C20orf94, ERCC4 and MSH2.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.248G>A	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	C	7.023	0.559006	0.13436	.	.	ENSG00000188827	ENST00000294008	T	0.01172	5.23	5.52	3.52	0.40303	.	1.253230	0.05848	N	0.620726	T	0.01320	0.0043	N	0.22421	0.69	0.09310	N	1	P	0.45902	0.868	B	0.42386	0.386	T	0.52102	-0.8620	10	0.33940	T	0.23	.	6.3924	0.21593	0.1503:0.6881:0.0:0.1616	.	83	Q8IY92	SLX4_HUMAN	D	83	ENSP00000294008:G83D	ENSP00000294008:G83D	G	-	2	0	SLX4	3598719	0.137000	0.22531	0.178000	0.23040	0.049000	0.14656	0.640000	0.24705	0.756000	0.33013	0.655000	0.94253	GGC		0.458	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	0	NM_032444		16:3658718
MEGF6	1953	broad.mit.edu	37	1	3411193	3411193	+	Silent	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr1:3411193C>T	ENST00000356575.4	-	31	4210	c.3984G>A	c.(3982-3984)ggG>ggA	p.G1328G	MEGF6_ENST00000294599.4_Silent_p.G1093G	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1328	EGF-like 24. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CGCAGTGCCGCCCCGTCCAGC	0.711																																					Ovarian(73;978 3658)	ENST00000356575.4		NA																	0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(3982-3984)ggG>ggA		multiple EGF-like-domains 6							7.0	11.0	10.0					1																	3411193		1995	4096	6091	SO:0001819	synonymous_variant	1953					extracellular region	calcium ion binding	g.chr1:3411193C>T	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.3984G>A	1.37:g.3411193C>T		True	False		Somatic	0				MEGF6_ENST00000294599.4_Silent_p.G1093G	p.G1328G	NM_001409.3	NP_001400.3	WXS	Illumina HiSeq	Phase_I	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	31	4210	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	1328			EGF-like 24.		Q4AC86|Q5VV39	Silent	SNP	ENST00000356575.4	37	c.3984G>A	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	C	0.026	-1.369662	0.01225	.	.	ENSG00000162591	ENST00000491842	D	0.82619	-1.63	3.72	0.574	0.17368	.	0.000000	0.85682	D	0.000000	D	0.85340	0.5674	.	.	.	0.53005	D	0.999965	.	.	.	.	.	.	D	0.84086	0.0387	7	0.66056	D	0.02	-26.2078	9.8377	0.40980	0.0:0.499:0.4156:0.0854	.	.	.	.	D	102	ENSP00000420386:G102D	ENSP00000420386:G102D	G	-	2	0	MEGF6	3401053	0.000000	0.05858	0.089000	0.20774	0.012000	0.07955	-0.398000	0.07259	0.312000	0.23038	0.462000	0.41574	GGC		0.711	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	0	NM_001409		1:3411193
SEL1L2	80343	broad.mit.edu	37	20	13846127	13846127	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr20:13846127C>T	ENST00000284951.5	-	16	1512	c.1438G>A	c.(1438-1440)Gct>Act	p.A480T	SEL1L2_ENST00000378072.5_Intron|SEL1L2_ENST00000486903.1_Intron			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	480						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						AATTTCTCAGCCCAGTGGCCT	0.433																																						ENST00000284951.5		NA																	0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						c.(1438-1440)Gct>Act		sel-1 suppressor of lin-12-like 2 (C. elegans)							83.0	79.0	80.0					20																	13846127		1900	4111	6011	SO:0001583	missense	80343					integral to membrane	binding	g.chr20:13846127C>T	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1438G>A	20.37:g.13846127C>T	ENSP00000284951:p.Ala480Thr	True	False		Somatic	0				SEL1L2_ENST00000378072.5_Intron|SEL1L2_ENST00000486903.1_Intron	p.A480T			WXS	Illumina HiSeq	Phase_I	Q5TEA6	SE1L2_HUMAN			16	1512	-			480					B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37	c.1438G>A		.	.	.	.	.	.	.	.	.	.	C	18.20	3.570723	0.65765	.	.	ENSG00000101251	ENST00000284951	T	0.50813	0.73	5.88	5.88	0.94601	.	0.000000	0.56097	D	0.000036	T	0.52403	0.1732	L	0.39245	1.2	0.46260	D	0.998956	D	0.67145	0.996	P	0.61070	0.883	T	0.36286	-0.9754	10	0.14656	T	0.56	-7.8336	12.6549	0.56782	0.165:0.835:0.0:0.0	.	480	Q5TEA6	SE1L2_HUMAN	T	480	ENSP00000284951:A480T	ENSP00000284951:A480T	A	-	1	0	SEL1L2	13794127	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.684000	0.61686	2.774000	0.95407	0.655000	0.94253	GCT		0.433	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	0	NM_025229		20:13846127
OR5M3	219482	broad.mit.edu	37	11	56237502	56237502	+	Missense_Mutation	SNP	T	T	C	rs148100298	byFrequency	TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr11:56237502T>C	ENST00000312240.2	-	1	512	c.472A>G	c.(472-474)Aca>Gca	p.T158A		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T158A(1)|p.T158P(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					GTCCATAATGTTGCTGCCAGA	0.428																																						ENST00000312240.2		NA																	2	Substitution - Missense(2)	p.T158A(1)|p.T158P(1)	ovary(1)|lung(1)	NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(472-474)Aca>Gca		olfactory receptor, family 5, subfamily M, member 3							122.0	112.0	115.0					11																	56237502		2201	4295	6496	SO:0001583	missense	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237502T>C	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.472A>G	11.37:g.56237502T>C	ENSP00000312208:p.Thr158Ala	False	False		Somatic	0					p.T158A	NM_001004742.2	NP_001004742.2	WXS	Illumina HiSeq	Phase_I	Q8NGP4	OR5M3_HUMAN			1	512	-	Esophageal squamous(21;0.00448)		158					B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	37	c.472A>G	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	T	12.21	1.870782	0.33069	.	.	ENSG00000174937	ENST00000312240	T	0.00256	8.42	5.22	4.07	0.47477	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000173	T	0.00412	0.0013	L	0.60904	1.88	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51411	-0.8709	10	0.48119	T	0.1	-6.2895	10.3656	0.44021	0.1471:0.0:0.0:0.8529	.	158	Q8NGP4	OR5M3_HUMAN	A	158	ENSP00000312208:T158A	ENSP00000312208:T158A	T	-	1	0	OR5M3	55994078	0.000000	0.05858	0.015000	0.15790	0.560000	0.35617	0.095000	0.15127	0.796000	0.33947	0.448000	0.29417	ACA		0.428	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	0	NM_001004742		11:56237502
FAM71B	153745	broad.mit.edu	37	5	156590130	156590130	+	Silent	SNP	G	G	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr5:156590130G>T	ENST00000302938.4	-	2	1241	c.1146C>A	c.(1144-1146)acC>acA	p.T382T		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	382						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CACACTTGCTGGTCGTAATAC	0.567																																						ENST00000302938.4		NA																	0				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(1144-1146)acC>acA		family with sequence similarity 71, member B							47.0	49.0	48.0					5																	156590130		2203	4300	6503	SO:0001819	synonymous_variant	153745					nucleus		g.chr5:156590130G>T		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1146C>A	5.37:g.156590130G>T		False	False		Somatic	0					p.T382T	NM_130899.2	NP_570969.2	WXS	Illumina HiSeq	Phase_I	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1241	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	382					Q1EDD9|Q8TC64|Q96LY8	Silent	SNP	ENST00000302938.4	37	c.1146C>A	CCDS4335.1																																																																																				0.567	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	0	NM_130899		5:156590130
SAE1	10055	broad.mit.edu	37	19	47646755	47646755	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr19:47646755C>T	ENST00000270225.7	+	2	171	c.103C>T	c.(103-105)Cgg>Tgg	p.R35W	SAE1_ENST00000540850.1_5'UTR|SAE1_ENST00000413379.3_Missense_Mutation_p.R35W|SAE1_ENST00000598840.1_Missense_Mutation_p.R35W|SAE1_ENST00000392776.3_Missense_Mutation_p.R35W	NM_005500.2	NP_005491.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	35					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitotic cell cycle (GO:0007346)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP-dependent protein binding (GO:0043008)|enzyme activator activity (GO:0008047)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|ubiquitin activating enzyme activity (GO:0004839)	p.R35W(2)		endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		TTACAGGCTGCGGGCCTCTCG	0.458																																						ENST00000413379.3		NA																	2	Substitution - Missense(2)	p.R35W(2)	endometrium(2)	endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13						c.(103-105)Cgg>Tgg		SUMO1 activating enzyme subunit 1							81.0	80.0	80.0					19																	47646755		2203	4300	6503	SO:0001583	missense	10055				protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity	g.chr19:47646755C>T	BC018271	CCDS12696.1, CCDS54284.1, CCDS54285.1	19q13.32	2013-09-26				ENSG00000142230		"""Ubiquitin-like modifier activating enzymes"""	30660	protein-coding gene	gene with protein product	"""activator Of sumo 1"""	613294				10187858, 9920803, 10217437	Standard	NM_005500		Approved	AOS1, FLJ3091, Sua1	uc002pgc.3	Q9UBE0		ENST00000270225.7:c.103C>T	19.37:g.47646755C>T	ENSP00000270225:p.Arg35Trp	True	False		Somatic	0				SAE1_ENST00000540850.1_5'UTR|SAE1_ENST00000598840.1_Missense_Mutation_p.R35W|SAE1_ENST00000392776.3_Missense_Mutation_p.R35W|SAE1_ENST00000270225.7_Missense_Mutation_p.R35W	p.R35W	NM_001145713.1	NP_001139185.1	WXS	Illumina HiSeq	Phase_I	Q9UBE0	SAE1_HUMAN		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)	2	205	+		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)	35					B2RDP5|B3KMQ2|F5GXX7|G3XAK6|O95717|Q9P020	Missense_Mutation	SNP	ENST00000270225.7	37	c.103C>T	CCDS12696.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.049237	0.75846	.	.	ENSG00000142230	ENST00000413379;ENST00000270225;ENST00000392776;ENST00000414294	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.85	4.81	0.61882	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.83275	0.5219	M	0.85777	2.775	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	D	0.86378	0.1727	10	0.72032	D	0.01	.	15.35	0.74376	0.1409:0.8591:0.0:0.0	.	35;35;35	G3XAK6;F5GXX7;Q9UBE0	.;.;SAE1_HUMAN	W	35	ENSP00000416557:R35W;ENSP00000270225:R35W;ENSP00000440818:R35W;ENSP00000398818:R35W	ENSP00000270225:R35W	R	+	1	2	SAE1	52338595	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.111000	0.57838	1.471000	0.48121	-0.175000	0.13238	CGG		0.458	SAE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466775.1	0	NM_005500		19:47646755
ZNF821	55565	broad.mit.edu	37	16	71894200	71894200	+	Silent	SNP	C	C	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr16:71894200C>A	ENST00000565601.1	-	7	1367	c.960G>T	c.(958-960)ctG>ctT	p.L320L	ZNF821_ENST00000446827.2_Silent_p.L278L|ATXN1L_ENST00000569119.1_Intron|ZNF821_ENST00000313565.6_Silent_p.L278L|ZNF821_ENST00000425432.1_Silent_p.L320L|ZNF821_ENST00000564134.1_3'UTR	NM_001201553.1	NP_001188482.1	O75541	ZN821_HUMAN	zinc finger protein 821	320					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						GATCCCGCTGCAGCCGGCGTG	0.672																																						ENST00000425432.1		NA																	0				endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						c.(958-960)ctG>ctT		zinc finger protein 821							26.0	27.0	27.0					16																	71894200		2196	4298	6494	SO:0001819	synonymous_variant	55565				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:71894200C>A	AF070588	CCDS32481.1, CCDS56006.1, CCDS73911.1	16q22.3	2008-05-02				ENSG00000102984		"""Zinc fingers, C2H2-type"""	28043	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_017530		Approved		uc021tlb.1	O75541		ENST00000565601.1:c.960G>T	16.37:g.71894200C>A		False	False		Somatic	0				ATXN1L_ENST00000569119.1_Intron|ZNF821_ENST00000313565.6_Silent_p.L278L|ZNF821_ENST00000446827.2_Silent_p.L278L|ZNF821_ENST00000565601.1_Silent_p.L320L|ZNF821_ENST00000564134.1_3'UTR	p.L320L	NM_001201552.1	NP_001188481.1	WXS	Illumina HiSeq	Phase_I	O75541	ZN821_HUMAN			8	1339	-			320					A6NK48|B4DKK4|D3DWS3	Silent	SNP	ENST00000565601.1	37	c.960G>T	CCDS56006.1																																																																																				0.672	ZNF821-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434180.1	0	NM_017530		16:71894200
BAALC	79870	broad.mit.edu	37	8	104225200	104225200	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr8:104225200G>A	ENST00000297574.6	+	3	458	c.319G>A	c.(319-321)Ggt>Agt	p.G107S	RP11-318M2.2_ENST00000523614.2_RNA|BAALC_ENST00000309982.5_Missense_Mutation_p.G72S|BAALC_ENST00000438105.2_Intron|RP11-318M2.2_ENST00000499522.2_RNA			Q8WXS3	BAALC_HUMAN	brain and acute leukemia, cytoplasmic	107						cytoplasm (GO:0005737)|membrane (GO:0016020)				kidney(1)|large_intestine(3)|lung(3)	7			OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133)			TACAGCCCCAGGTGGAATACC	0.577																																						ENST00000309982.5		NA																	0				kidney(1)|large_intestine(3)|lung(3)	7						c.(214-216)Ggt>Agt		brain and acute leukemia, cytoplasmic							138.0	122.0	127.0					8																	104225200		2203	4300	6503	SO:0001583	missense	79870					centrosome|membrane|nucleus		g.chr8:104225200G>A	AF363578	CCDS6297.1, CCDS47906.1	8q22.3	2008-07-29			ENSG00000164929	ENSG00000164929			14333	protein-coding gene	gene with protein product		606602				11707601	Standard	NM_024812		Approved		uc003yld.3	Q8WXS3	OTTHUMG00000164782	ENST00000297574.6:c.319G>A	8.37:g.104225200G>A	ENSP00000297574:p.Gly107Ser	False	False		Somatic	0				BAALC_ENST00000297574.6_Missense_Mutation_p.G107S|BAALC_ENST00000438105.2_Intron|RP11-318M2.2_ENST00000499522.2_RNA|RP11-318M2.2_ENST00000523614.2_RNA	p.G72S	NM_024812.2	NP_079088.1	WXS	Illumina HiSeq	Phase_I	Q8WXS3	BAALC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133)		2	402	+			107					Q8WTP6|Q8WXS0|Q8WXS1|Q8WXS2|Q9HA93	Missense_Mutation	SNP	ENST00000297574.6	37	c.214G>A		.	.	.	.	.	.	.	.	.	.	G	12.40	1.927804	0.34002	.	.	ENSG00000164929	ENST00000309982;ENST00000297574	T;T	0.53206	1.02;0.63	5.47	1.85	0.25348	.	0.578794	0.17232	N	0.181915	T	0.30070	0.0753	.	.	.	0.80722	D	1	B;B	0.18741	0.03;0.005	B;B	0.17722	0.014;0.019	T	0.05971	-1.0853	9	0.26408	T	0.33	-6.8436	5.7463	0.18122	0.4639:0.0:0.5361:0.0	.	107;72	Q8WXS3;Q8WXS3-2	BAALC_HUMAN;.	S	72;107	ENSP00000312457:G72S;ENSP00000297574:G107S	ENSP00000297574:G107S	G	+	1	0	BAALC	104294376	0.137000	0.22531	0.196000	0.23383	0.544000	0.35116	0.274000	0.18680	0.631000	0.30412	0.650000	0.86243	GGT		0.577	BAALC-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000380257.1	0			8:104225200
CGB2	114336	broad.mit.edu	37	19	49535356	49535356	+	Missense_Mutation	SNP	T	T	C			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr19:49535356T>C	ENST00000359342.6	+	1	122	c.4T>C	c.(4-6)Tca>Cca	p.S2P	CTB-60B18.6_ENST00000591656.1_Intron	NM_033378.1	NP_203696.2	Q6NT52	CGB2_HUMAN	chorionic gonadotropin, beta polypeptide 2	34						extracellular region (GO:0005576)		p.S2P(1)		large_intestine(1)|lung(1)|stomach(1)	3		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GAGAGACATGTCAAAGGTAGG	0.547																																						ENST00000359342.6		NA																	1	Substitution - Missense(1)	p.S2P(1)	lung(1)	large_intestine(1)|lung(1)|stomach(1)	3						c.(4-6)Tca>Cca		chorionic gonadotropin, beta polypeptide 2							200.0	167.0	178.0					19																	49535356		2203	4300	6503	SO:0001583	missense	114336							g.chr19:49535356T>C	K03184	CCDS12750.2	19q13.32	2008-02-05			ENSG00000104818	ENSG00000104818			16722	protein-coding gene	gene with protein product		608824				6194155	Standard	NM_033378		Approved		uc002plw.3	Q6NT52	OTTHUMG00000150185	ENST00000359342.6:c.4T>C	19.37:g.49535356T>C	ENSP00000352295:p.Ser2Pro	False	False		Somatic	0				CTB-60B18.6_ENST00000591656.1_Intron	p.S2P	NM_033378.1	NP_203696.2	WXS	Illumina HiSeq	Phase_I				all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	1	122	+		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	NA					B9ZVM5	Missense_Mutation	SNP	ENST00000359342.6	37	c.4T>C	CCDS12750.2	.	.	.	.	.	.	.	.	.	.	t	8.484	0.860516	0.17178	.	.	ENSG00000104818	ENST00000538959;ENST00000359342	T	0.39406	1.08	0.584	-0.679	0.11350	.	1.065520	0.07276	U	0.869916	T	0.33411	0.0862	N	0.08118	0	0.09310	N	1	P	0.51449	0.945	P	0.57425	0.82	T	0.26883	-1.0090	9	0.30854	T	0.27	.	.	.	.	.	20	P01233-2	.	P	2	ENSP00000352295:S2P	ENSP00000352295:S2P	S	+	1	0	CGB2	54227168	0.002000	0.14202	0.411000	0.26484	0.130000	0.20726	-0.463000	0.06696	-0.224000	0.09928	0.076000	0.15429	TCA		0.547	CGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316745.1	0	NM_033378		19:49535356
LILRB5	10990	broad.mit.edu	37	19	54759236	54759236	+	Missense_Mutation	SNP	G	G	A	rs685082	byFrequency	TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr19:54759236G>A	ENST00000316219.5	-	5	972	c.865C>T	c.(865-867)Cac>Tac	p.H289Y	LILRB5_ENST00000345866.6_Missense_Mutation_p.H189Y|LILRB5_ENST00000450632.1_Missense_Mutation_p.H280Y|LILRB5_ENST00000449561.2_Missense_Mutation_p.H289Y	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	289	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGCCCCCGTGGGAGCGGCTC	0.672													.|||	6	0.00119808	0.003	0.0029	5008	,	,		15555	0.0		0.0	False		,,,				2504	0.0					ENST00000450632.1		NA																	0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(838-840)Cac>Tac		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5		A	TYR/HIS,TYR/HIS,TYR/HIS	16,4390	818.0+/-416.3	0,16,2187	41.0	43.0	42.0		865,565,865	-1.5	0.0	19	dbSNP_83	42	2,8596	813.8+/-407.0	0,2,4297	no	missense,missense,missense	LILRB5	NM_001081442.1,NM_001081443.1,NM_006840.3	83,83,83	0,18,6484	AA,AG,GG		0.0233,0.3631,0.1384	benign,benign,benign	289/592,189/492,289/591	54759236	18,12986	2203	4299	6502	SO:0001583	missense	0				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54759236G>A	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.865C>T	19.37:g.54759236G>A	ENSP00000320390:p.His289Tyr	True	False		Somatic	0				LILRB5_ENST00000449561.2_Missense_Mutation_p.H289Y|LILRB5_ENST00000345866.6_Missense_Mutation_p.H189Y|LILRB5_ENST00000316219.5_Missense_Mutation_p.H289Y	p.H280Y			WXS	Illumina HiSeq	Phase_I	O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	5	915	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		289			Ig-like C2-type 3.		Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.838C>T	CCDS12885.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	5.767	0.325897	0.10900	0.003631	2.33E-4	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.00824	5.65;5.65;5.65;5.65	2.62	-1.47	0.08772	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.023490	0.07817	N	0.959130	T	0.02083	0.0065	M	0.77313	2.365	0.09310	N	1	B;P;B;P;P	0.49559	0.09;0.622;0.103;0.925;0.572	B;B;B;P;P	0.50754	0.17;0.115;0.075;0.632;0.649	T	0.41520	-0.9504	10	0.21540	T	0.41	.	3.3247	0.07062	0.1425:0.0:0.4145:0.443	rs685082;rs16985501	280;180;189;289;289	C9JMK7;Q8NF80;O75023-2;O75023-3;O75023	.;.;.;.;LIRB5_HUMAN	Y	289;280;289;189	ENSP00000320390:H289Y;ENSP00000414225:H280Y;ENSP00000406478:H289Y;ENSP00000263430:H189Y	ENSP00000320390:H289Y	H	-	1	0	LILRB5	59451048	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.205000	0.17356	-0.171000	0.10797	-0.416000	0.06073	CAC		0.672	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2	0			19:54759236
GRM8	2918	broad.mit.edu	37	7	126173814	126173814	+	Missense_Mutation	SNP	C	C	G			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr7:126173814C>G	ENST00000339582.2	-	9	2430	c.1622G>C	c.(1621-1623)tGt>tCt	p.C541S	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.C541S|GRM8_ENST00000358373.3_Missense_Mutation_p.C541S			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	541					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GTAACCTTCACAGCGTTCACA	0.562										HNSCC(24;0.065)																												ENST00000339582.2		NA																	0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(1621-1623)tGt>tCt		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						127.0	118.0	121.0					7																	126173814		2203	4300	6503	SO:0001583	missense	0				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173814C>G		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1622G>C	7.37:g.126173814C>G	ENSP00000344173:p.Cys541Ser	False	False	HNSCC(24;0.065)	Somatic	0				GRM8_ENST00000444921.2_Missense_Mutation_p.C541S|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.C541S	p.C541S			WXS	Illumina HiSeq	Phase_I	O00222	GRM8_HUMAN			9	2430	-		Prostate(267;0.186)	541					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.1622G>C	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.281561	0.80692	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.99494	-6.01;-6.01;-6.01	5.8	5.8	0.92144	GPCR, family 3, conserved site (1);GPCR, family 3, nine cysteines domain (1);	0.000000	0.85682	D	0.000000	D	0.99785	0.9910	H	0.98682	4.3	0.80722	D	1	P;D	0.89917	0.867;1.0	B;D	0.87578	0.359;0.998	D	0.97086	0.9787	10	0.87932	D	0	.	19.0428	0.93008	0.0:1.0:0.0:0.0	.	541;541	O00222-2;O00222	.;GRM8_HUMAN	S	541	ENSP00000344173:C541S;ENSP00000409790:C541S;ENSP00000351142:C541S	ENSP00000344173:C541S	C	-	2	0	GRM8	125961050	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.811000	0.86092	2.758000	0.94735	0.643000	0.83706	TGT		0.562	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4	0			7:126173814
GCNT2	2651	broad.mit.edu	37	6	10586309	10586309	+	Intron	SNP	G	G	A	rs201305914		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr6:10586309G>A	ENST00000379597.3	+	2	1481				GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000265012.4_Silent_p.P29P|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000316170.3_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		AATTGAGCCCGCCAAAAAGTT	0.403													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20608	0.0		0.0	False		,,,				2504	0.0					ENST00000265012.4		NA																	0				endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12						c.(85-87)ccG>ccA		glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)							138.0	133.0	135.0					6																	10586309		2203	4300	6503	SO:0001627	intron_variant	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10586309G>A	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.926-35275G>A	6.37:g.10586309G>A		True	False		Somatic	0				GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000410107.1_Intron	p.P29P	NM_145655.3	NP_663630.2	WXS	Illumina HiSeq	Phase_I	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	1	331	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	30						Silent	SNP	ENST00000379597.3	37	c.87G>A	CCDS34338.1																																																																																				0.403	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	0	NM_145649		6:10586309
CHL1	10752	broad.mit.edu	37	3	439920	439920	+	Silent	SNP	C	C	T	rs373156471		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr3:439920C>T	ENST00000256509.2	+	25	3747	c.3105C>T	c.(3103-3105)atC>atT	p.I1035I	CHL1_ENST00000397491.2_Silent_p.I1019I	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.I1035I(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GTAAAGGTATCGGGAAGATAT	0.353																																						ENST00000256509.2		NA																	1	Substitution - coding silent(1)	p.I1035I(1)	large_intestine(1)	NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93						c.(3103-3105)atC>atT		cell adhesion molecule L1-like		C		1,4405	2.1+/-5.4	0,1,2202	59.0	58.0	58.0		3105	4.8	1.0	3		58	0,8600		0,0,4300	no	coding-synonymous	CHL1	NM_006614.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1035/1225	439920	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:439920C>T	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.3105C>T	3.37:g.439920C>T		True	False		Somatic	0				CHL1_ENST00000397491.2_Silent_p.I1019I	p.I1035I	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	WXS	Illumina HiSeq	Phase_I	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	25	3747	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	1019					Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000256509.2	37	c.3105C>T	CCDS2556.1																																																																																				0.353	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	0	NM_006614		3:439920
AVPR1A	552	broad.mit.edu	37	12	63543857	63543857	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr12:63543857G>A	ENST00000299178.2	-	1	865	c.760C>T	c.(760-762)Cgc>Tgc	p.R254C		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	254					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)	p.R254C(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	TTGCTCTGGCGCGACGCCGTC	0.617																																						ENST00000299178.2		NA																	1	Substitution - Missense(1)	p.R254C(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26						c.(760-762)Cgc>Tgc		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)						96.0	96.0	96.0					12																	63543857		2203	4300	6503	SO:0001583	missense	0				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr12:63543857G>A	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.760C>T	12.37:g.63543857G>A	ENSP00000299178:p.Arg254Cys	False	False		Somatic	0					p.R254C	NM_000706.4	NP_000697.1	WXS	Illumina HiSeq	Phase_I	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	1	865	-			254						Missense_Mutation	SNP	ENST00000299178.2	37	c.760C>T	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921813	0.33908	.	.	ENSG00000166148	ENST00000550940;ENST00000299178	T;T	0.73469	-0.75;-0.75	5.29	1.6	0.23607	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38959	N	0.001512	T	0.59115	0.2170	L	0.39514	1.22	0.21220	N	0.999759	B	0.19817	0.039	B	0.21546	0.035	T	0.40270	-0.9572	9	.	.	.	-13.3074	5.8336	0.18594	0.1974:0.3561:0.4465:0.0	.	254	P37288	V1AR_HUMAN	C	35;254	ENSP00000449822:R35C;ENSP00000299178:R254C	.	R	-	1	0	AVPR1A	61830124	0.001000	0.12720	0.135000	0.22099	0.903000	0.53119	0.341000	0.19909	1.224000	0.43551	0.455000	0.32223	CGC		0.617	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1	0			12:63543857
DNAH10	196385	broad.mit.edu	37	12	124326011	124326011	+	Missense_Mutation	SNP	C	C	T	rs373004317		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr12:124326011C>T	ENST00000409039.3	+	29	4950	c.4925C>T	c.(4924-4926)aCg>aTg	p.T1642M		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1642	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GACTGGATGACGGCAGTTTTG	0.463																																						ENST00000409039.3		NA																	0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(4924-4926)aCg>aTg		dynein, axonemal, heavy chain 10		C	MET/THR	0,3956		0,0,1978	141.0	145.0	144.0		4925	5.2	0.9	12		144	3,8305		0,3,4151	no	missense	DNAH10	NM_207437.3	81	0,3,6129	TT,TC,CC		0.0361,0.0,0.0245	probably-damaging	1642/4472	124326011	3,12261	1978	4154	6132	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124326011C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.4925C>T	12.37:g.124326011C>T	ENSP00000386770:p.Thr1642Met	False	False		Somatic	0					p.T1642M	NM_207437.3	NP_997320.2	WXS	Illumina HiSeq	Phase_I	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	29	4950	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1642			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.4925C>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671082	0.47781	0.0	3.61E-4	ENSG00000197653	ENST00000409039	T	0.61510	0.1	5.23	5.23	0.72850	Dynein heavy chain, domain-2 (1);	0.000000	0.64402	U	0.000001	T	0.77644	0.4161	M	0.81942	2.565	0.58432	D	0.999995	D	0.89917	1.0	D	0.75484	0.986	T	0.77550	-0.2546	10	0.39692	T	0.17	.	18.7853	0.91952	0.0:1.0:0.0:0.0	.	1642	Q8IVF4	DYH10_HUMAN	M	1642	ENSP00000386770:T1642M	ENSP00000386770:T1642M	T	+	2	0	DNAH10	122891964	1.000000	0.71417	0.945000	0.38365	0.206000	0.24218	4.564000	0.60830	2.457000	0.83068	0.561000	0.74099	ACG		0.463	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3	0			12:124326011
FRMD4A	55691	broad.mit.edu	37	10	13696478	13696478	+	Silent	SNP	C	C	T	rs377693430		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr10:13696478C>T	ENST00000357447.2	-	23	3356	c.2988G>A	c.(2986-2988)ccG>ccA	p.P996P	FRMD4A_ENST00000378503.1_Silent_p.P996P|FRMD4A_ENST00000358621.4_Silent_p.P981P	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	996	Ser-rich.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TTTCACTTGACGGTGTCGAGC	0.547													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19859	0.0		0.0	False		,,,				2504	0.0					ENST00000357447.2		NA																	0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(2986-2988)ccG>ccA		FERM domain containing 4A		C		1,4405	2.1+/-5.4	0,1,2202	90.0	86.0	87.0		2988	-8.3	0.1	10		87	0,8600		0,0,4300	no	coding-synonymous	FRMD4A	NM_018027.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		996/1040	13696478	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55691					cytoplasm|cytoskeleton	binding	g.chr10:13696478C>T	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.2988G>A	10.37:g.13696478C>T		False	False		Somatic	0				FRMD4A_ENST00000378503.1_Silent_p.P996P|FRMD4A_ENST00000358621.4_Silent_p.P981P	p.P996P	NM_018027.3	NP_060497.3	WXS	Illumina HiSeq	Phase_I	Q9P2Q2	FRM4A_HUMAN			23	3356	-			996			Ser-rich.		A7E2Y3|Q5T377	Silent	SNP	ENST00000357447.2	37	c.2988G>A	CCDS7101.1																																																																																				0.547	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	0	NM_018027		10:13696478
NUAK2	81788	broad.mit.edu	37	1	205273036	205273036	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr1:205273036C>T	ENST00000367157.3	-	7	1555	c.1429G>A	c.(1429-1431)Gtg>Atg	p.V477M		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2											breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CTCACAAACACGTCGCCTGCG	0.587																																						ENST00000367157.3		NA																	0				breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						c.(1429-1431)Gtg>Atg		NUAK family, SNF1-like kinase, 2							38.0	37.0	38.0					1																	205273036		2203	4300	6503	SO:0001583	missense	81788				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:205273036C>T	AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"""SNF1/AMP activated protein kinase"""	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.1429G>A	1.37:g.205273036C>T	ENSP00000356125:p.Val477Met	False	False		Somatic	0					p.V477M	NM_030952.1	NP_112214.1	WXS	Illumina HiSeq	Phase_I	Q9H093	NUAK2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		7	1555	-	Breast(84;0.186)		477						Missense_Mutation	SNP	ENST00000367157.3	37	c.1429G>A	CCDS1453.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.567476	0.28003	.	.	ENSG00000163545	ENST00000367157	T	0.72282	-0.64	4.86	4.86	0.63082	.	0.000000	0.40640	N	0.001045	T	0.69187	0.3083	L	0.60455	1.87	0.28049	N	0.933438	D	0.64830	0.994	P	0.52159	0.691	T	0.65911	-0.6053	10	0.37606	T	0.19	.	4.1079	0.10045	0.1634:0.5906:0.158:0.088	.	477	Q9H093	NUAK2_HUMAN	M	477	ENSP00000356125:V477M	ENSP00000356125:V477M	V	-	1	0	NUAK2	203539659	0.846000	0.29590	0.989000	0.46669	0.173000	0.22820	1.357000	0.34090	2.234000	0.73211	0.407000	0.27541	GTG		0.587	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1	0	NM_030952		1:205273036
ZNF688	146542	broad.mit.edu	37	16	30581656	30581656	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr16:30581656G>A	ENST00000223459.6	-	3	1516	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C	AC002310.7_ENST00000486926.1_RNA|ZNF688_ENST00000395219.1_Missense_Mutation_p.R124C|AC002310.7_ENST00000492040.1_RNA	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	138					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						TCAGGGTTGCGTTCCACCAGC	0.607																																						ENST00000223459.6		NA																	0				endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						c.(412-414)Cgc>Tgc		zinc finger protein 688							49.0	46.0	47.0					16																	30581656		2197	4300	6497	SO:0001583	missense	146542				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30581656G>A	AK122680	CCDS10684.1	16p11.2	2013-01-08			ENSG00000229809	ENSG00000229809		"""Zinc fingers, C2H2-type"", ""-"""	30489	protein-coding gene	gene with protein product						10493829	Standard	XM_005255139		Approved		uc002dys.2	P0C7X2	OTTHUMG00000132408	ENST00000223459.6:c.412C>T	16.37:g.30581656G>A	ENSP00000223459:p.Arg138Cys	False	False		Somatic	0				ZNF688_ENST00000395219.1_Missense_Mutation_p.R124C	p.R138C	NM_145271.3	NP_660314.1	WXS	Illumina HiSeq	Phase_I	P0C7X2	ZN688_HUMAN			3	1516	-			138					A8MV39|B3KV51|O75701|Q8IW91|Q8WV14|Q96MN0	Missense_Mutation	SNP	ENST00000223459.6	37	c.412C>T	CCDS10684.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342937	0.24339	.	.	ENSG00000229809	ENST00000395219;ENST00000223459	T;T	0.04360	3.64;3.85	4.38	2.33	0.28932	.	.	.	.	.	T	0.03477	0.0100	N	0.22421	0.69	0.09310	N	1	P;D	0.53151	0.696;0.958	B;B	0.38296	0.186;0.27	T	0.44498	-0.9324	9	0.51188	T	0.08	.	8.6385	0.33964	0.0939:0.1533:0.7528:0.0	.	138;124	P0C7X2;A8MV39	ZN688_HUMAN;.	C	124;138	ENSP00000378645:R124C;ENSP00000223459:R138C	ENSP00000223459:R138C	R	-	1	0	ZNF688	30489157	0.001000	0.12720	0.001000	0.08648	0.010000	0.07245	0.659000	0.24994	0.191000	0.20236	-1.151000	0.01829	CGC		0.607	ZNF688-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255544.2	0	NM_145271		16:30581656
OR1N2	138882	broad.mit.edu	37	9	125315452	125315452	+	Nonsense_Mutation	SNP	G	G	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr9:125315452G>T	ENST00000373688.2	+	1	62	c.4G>T	c.(4-6)Gaa>Taa	p.E2*		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CTGACACATGGAAGGTTTTTA	0.408																																						ENST00000373688.2		NA																	0				breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						c.(4-6)Gaa>Taa		olfactory receptor, family 1, subfamily N, member 2							80.0	83.0	82.0					9																	125315452		2203	4300	6503	SO:0001587	stop_gained	138882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125315452G>T		CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"""GPCR / Class A : Olfactory receptors"""	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.4G>T	9.37:g.125315452G>T	ENSP00000362792:p.Glu2*	False	False		Somatic	0					p.E2*	NM_001004457.1	NP_001004457.1	WXS	Illumina HiSeq	Phase_I	Q8NGR9	OR1N2_HUMAN			1	62	+			2					A3KFM2|B2RNY4|Q6IF17|Q96RA3	Nonsense_Mutation	SNP	ENST00000373688.2	37	c.4G>T	CCDS35123.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.426314	0.62733	.	.	ENSG00000171501	ENST00000373688	.	.	.	3.55	0.384	0.16244	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	0.7679	0.01018	0.2222:0.1643:0.399:0.2145	.	.	.	.	X	2	.	ENSP00000362792:E2X	E	+	1	0	OR1N2	124355273	0.000000	0.05858	0.000000	0.03702	0.186000	0.23388	-0.184000	0.09698	-0.024000	0.13941	0.638000	0.83543	GAA		0.408	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2	0			9:125315452
GREB1	9687	broad.mit.edu	37	2	11780474	11780474	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr2:11780474G>A	ENST00000381486.2	+	33	6044	c.5744G>A	c.(5743-5745)cGc>cAc	p.R1915H	GREB1_ENST00000234142.5_Missense_Mutation_p.R1915H|GREB1_ENST00000396123.1_Missense_Mutation_p.R913H	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1915						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ACGGTCGTCCGCCTGGAGCTC	0.622																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2		NA																	0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(5743-5745)cGc>cAc		growth regulation by estrogen in breast cancer 1							47.0	54.0	52.0					2																	11780474		2036	4175	6211	SO:0001583	missense	9687					integral to membrane		g.chr2:11780474G>A		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.5744G>A	2.37:g.11780474G>A	ENSP00000370896:p.Arg1915His	False	False		Somatic	0				GREB1_ENST00000234142.5_Missense_Mutation_p.R1915H|GREB1_ENST00000396123.1_Missense_Mutation_p.R913H	p.R1915H	NM_014668.3	NP_055483.2	WXS	Illumina HiSeq	Phase_I	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	33	6044	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1915					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.5744G>A	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	34	5.412272	0.96072	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.33438	2.72;2.72;1.41	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.57154	0.2034	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62039	-0.6938	10	0.87932	D	0	-33.8736	18.3628	0.90380	0.0:0.0:1.0:0.0	.	1915	Q4ZG55	GREB1_HUMAN	H	1915;1915;913	ENSP00000370896:R1915H;ENSP00000234142:R1915H;ENSP00000379429:R913H	ENSP00000234142:R1915H	R	+	2	0	GREB1	11697925	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.227000	0.95236	2.316000	0.78162	0.563000	0.77884	CGC		0.622	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	0	NM_014668		2:11780474
PES1	23481	broad.mit.edu	37	22	30976083	30976083	+	Missense_Mutation	SNP	G	G	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr22:30976083G>T	ENST00000405677.1	-	13	1652	c.709C>A	c.(709-711)Cag>Aag	p.Q237K	PES1_ENST00000354694.7_Missense_Mutation_p.Q376K|PES1_ENST00000402284.3_Missense_Mutation_p.Q359K|PES1_ENST00000335214.6_Missense_Mutation_p.Q371K|PES1_ENST00000402281.1_Missense_Mutation_p.Q237K	NM_001282328.1	NP_001269257.1			pescadillo ribosomal biogenesis factor 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						TCGACAATCTGATGGGTGATG	0.577																																						ENST00000402281.1		NA																	0				breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(709-711)Cag>Aag		pescadillo ribosomal biogenesis factor 1							153.0	145.0	148.0					22																	30976083		2203	4300	6503	SO:0001583	missense	23481				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	g.chr22:30976083G>T	U78310	CCDS13880.1, CCDS58802.1, CCDS74842.1	22q12.1	2012-02-23	2012-02-23		ENSG00000100029	ENSG00000100029			8848	protein-coding gene	gene with protein product		605819	"""pescadillo (zebrafish) homolog 1, containing BRCT domain"", ""pescadillo homolog 1, containing BRCT domain (zebrafish)"""			8985183, 10591208, 17353269	Standard	NM_014303		Approved	PES	uc003aij.2	O00541	OTTHUMG00000151077	ENST00000405677.1:c.709C>A	22.37:g.30976083G>T	ENSP00000385654:p.Gln237Lys	False	False		Somatic	0				PES1_ENST00000402284.3_Missense_Mutation_p.Q359K|PES1_ENST00000354694.7_Missense_Mutation_p.Q376K|PES1_ENST00000335214.6_Missense_Mutation_p.Q371K|PES1_ENST00000405677.1_Missense_Mutation_p.Q237K	p.Q237K	NM_001282327.1	NP_001269256.1	WXS	Illumina HiSeq	Phase_I	O00541	PESC_HUMAN			13	1700	-			376			Sufficient for nucleolar localization.			Missense_Mutation	SNP	ENST00000405677.1	37	c.709C>A		.	.	.	.	.	.	.	.	.	.	G	36	5.682142	0.96774	.	.	ENSG00000100029	ENST00000354694;ENST00000402281;ENST00000405677;ENST00000402284;ENST00000335214	T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23	5.28	5.28	0.74379	BRCT (4);	0.127391	0.56097	D	0.000035	D	0.89781	0.6814	M	0.89287	3.02	0.80722	D	1	D;D;P;D	0.63046	0.969;0.992;0.925;0.969	P;D;P;P	0.67382	0.72;0.951;0.616;0.72	D	0.91528	0.5240	10	0.72032	D	0.01	-34.7935	18.5306	0.90990	0.0:0.0:1.0:0.0	.	376;359;371;376	B2RDF2;B5MCF9;O00541-2;O00541	.;.;.;PESC_HUMAN	K	376;237;237;359;371	ENSP00000346725:Q376K;ENSP00000384366:Q237K;ENSP00000385654:Q237K;ENSP00000384252:Q359K;ENSP00000334612:Q371K	ENSP00000334612:Q371K	Q	-	1	0	PES1	29306083	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.655000	0.98512	2.467000	0.83353	0.655000	0.94253	CAG		0.577	PES1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000321189.2	0	NM_014303		22:30976083
GPRC6A	222545	broad.mit.edu	37	6	117113727	117113727	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr6:117113727C>T	ENST00000310357.3	-	6	2380	c.2359G>A	c.(2359-2361)Ggc>Agc	p.G787S	GPRC6A_ENST00000368549.3_Missense_Mutation_p.G716S|GPRC6A_ENST00000530250.1_Missense_Mutation_p.G612S	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	787					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ATGAGCATGCCAAATGTAATG	0.378																																						ENST00000310357.3		NA																	0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65						c.(2359-2361)Ggc>Agc		G protein-coupled receptor, family C, group 6, member A							74.0	79.0	77.0					6																	117113727		2203	4300	6503	SO:0001583	missense	0				response to amino acid stimulus		G-protein coupled receptor activity	g.chr6:117113727C>T	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.2359G>A	6.37:g.117113727C>T	ENSP00000309493:p.Gly787Ser	True	False		Somatic	0				GPRC6A_ENST00000368549.3_Missense_Mutation_p.G716S|GPRC6A_ENST00000530250.1_Missense_Mutation_p.G612S	p.G787S	NM_148963.2	NP_683766.2	WXS	Illumina HiSeq	Phase_I	Q5T6X5	GPC6A_HUMAN		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)	6	2380	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	787					Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	37	c.2359G>A	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	C	8.574	0.880765	0.17467	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.85411	-1.98;-1.98;-1.98	4.26	4.26	0.50523	GPCR, family 3, C-terminal (2);	0.000000	0.53938	D	0.000041	T	0.62146	0.2404	N	0.04669	-0.19	0.49130	D	0.999757	P;P;P	0.39903	0.65;0.504;0.694	P;B;B	0.47603	0.551;0.292;0.418	T	0.70171	-0.4945	10	0.02654	T	1	.	16.8566	0.86007	0.0:1.0:0.0:0.0	.	716;612;787	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	S	787;716;612	ENSP00000309493:G787S;ENSP00000357537:G716S;ENSP00000433465:G612S	ENSP00000309493:G787S	G	-	1	0	GPRC6A	117220420	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	2.930000	0.48924	2.210000	0.71456	0.591000	0.81541	GGC		0.378	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2	0			6:117113727
ZNF585B	92285	broad.mit.edu	37	19	37676154	37676154	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr19:37676154C>T	ENST00000532828.2	-	5	2536	c.2285G>A	c.(2284-2286)aGt>aAt	p.S762N	ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.S707N|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_Missense_Mutation_p.S350N	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	762					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTGATGAACACTGAACACTGA	0.463																																					Melanoma(93;882 1454 18863 28917 48427)	ENST00000532828.2		NA																	0				NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29						c.(2284-2286)aGt>aAt		zinc finger protein 585B							169.0	147.0	154.0					19																	37676154		2203	4300	6503	SO:0001583	missense	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37676154C>T	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.2285G>A	19.37:g.37676154C>T	ENSP00000433773:p.Ser762Asn	True	False		Somatic	0				CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Missense_Mutation_p.S707N|ZNF585B_ENST00000312908.5_Missense_Mutation_p.S350N|ZNF585B_ENST00000527838.1_3'UTR	p.S762N	NM_152279.3	NP_689492.3	WXS	Illumina HiSeq	Phase_I	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	2536	-			762					Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	c.2285G>A	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	C	5.066	0.197903	0.09652	.	.	ENSG00000245680	ENST00000531805;ENST00000532828;ENST00000312908	T;T;T	0.15718	2.4;2.4;2.4	2.72	-0.663	0.11410	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.836945	0.10095	N	0.716705	T	0.08492	0.0211	N	0.16233	0.39	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37709	-0.9694	10	0.27082	T	0.32	.	4.5817	0.12262	0.0:0.4379:0.331:0.231	.	707;762	E9PQH3;Q52M93	.;Z585B_HUMAN	N	707;762;350	ENSP00000436774:S707N;ENSP00000433773:S762N;ENSP00000442139:S350N	ENSP00000442139:S350N	S	-	2	0	ZNF585B	42367994	0.000000	0.05858	0.093000	0.20910	0.199000	0.23934	-2.835000	0.00741	0.221000	0.20879	0.305000	0.20034	AGT		0.463	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	0	NM_152279		19:37676154
PTPN12	5782	broad.mit.edu	37	7	77230064	77230064	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr7:77230064G>A	ENST00000248594.6	+	8	908	c.636G>A	c.(634-636)atG>atA	p.M212I	PTPN12_ENST00000415482.2_Missense_Mutation_p.M93I|PTPN12_ENST00000435495.2_Missense_Mutation_p.M82I	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	212	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TTCTGGACATGATAAGCTTAA	0.328																																						ENST00000248594.6		NA																	0				breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						c.(634-636)atG>atA		protein tyrosine phosphatase, non-receptor type 12							105.0	91.0	96.0					7																	77230064		2203	4300	6503	SO:0001583	missense	0					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding	g.chr7:77230064G>A		CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.636G>A	7.37:g.77230064G>A	ENSP00000248594:p.Met212Ile	False	False		Somatic	0				PTPN12_ENST00000435495.2_Missense_Mutation_p.M82I|PTPN12_ENST00000415482.2_Missense_Mutation_p.M93I	p.M212I	NM_002835.3	NP_002826.3	WXS	Illumina HiSeq	Phase_I	Q05209	PTN12_HUMAN			8	908	+			212			Tyrosine-protein phosphatase.		A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	ENST00000248594.6	37	c.636G>A	CCDS5592.1	.	.	.	.	.	.	.	.	.	.	G	33	5.202288	0.94997	.	.	ENSG00000127947	ENST00000248594;ENST00000415482;ENST00000543073;ENST00000435495	T;D;D	0.82893	2.85;-1.66;-1.66	5.51	5.51	0.81932	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.87478	0.6187	L	0.41573	1.285	0.80722	D	1	D	0.58620	0.983	D	0.63033	0.91	D	0.88185	0.2873	10	0.66056	D	0.02	.	19.4115	0.94675	0.0:0.0:1.0:0.0	.	212	Q05209	PTN12_HUMAN	I	212;93;93;82	ENSP00000248594:M212I;ENSP00000392429:M93I;ENSP00000397991:M82I	ENSP00000248594:M212I	M	+	3	0	PTPN12	77068000	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.824000	0.86668	2.585000	0.87301	0.557000	0.71058	ATG		0.328	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3	0			7:77230064
MT-CO1	4512	broad.mit.edu	37	M	7337	7337	+	Silent	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chrM:7337G>A	ENST00000361624.2	+	1	1434	c.1434G>A	c.(1432-1434)tcG>tcA	p.S478S	MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-TM_ENST00000387377.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-TW_ENST00000387382.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	478					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						GCCTTCGCTTCGAAGCGAAAA	0.408																																						ENST00000361624.2		NA																	0				breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						c.(1432-1434)tcG>tcA		mitochondrially encoded cytochrome c oxidase I																																				SO:0001819	synonymous_variant	4512							g.chrM:7337G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.1434G>A	M.37:g.7337G>A		True	False		Somatic	0					p.S478S			WXS	Illumina HiSeq	Phase_I					1	1434	+			NA					Q34770	Silent	SNP	ENST00000361624.2	37	c.1434G>A																																																																																					0.408	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	YP_003024028		MT:7337
BMS1P20	96610	broad.mit.edu	37	22	22664679	22664679	+	RNA	SNP	A	A	G			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr22:22664679A>G	ENST00000426066.1	+	0	860					NR_027293.1				BMS1 pseudogene 20																		TGGGTGAGAAAGACACCTGGT	0.483																																						ENST00000426066.1		NA																	0					NA																																														0							g.chr22:22664679A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664679A>G		True	False		Somatic	0						NR_027293.1		WXS	Illumina HiSeq	Phase_I					0	860	+			NA						RNA	SNP	ENST00000426066.1	37																																																																																						0.483	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1	0			22:22664679
HS3ST6	64711	broad.mit.edu	37	16	1962193	1962193	+	Nonsense_Mutation	SNP	G	G	A	rs371972747		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr16:1962193G>A	ENST00000293937.3	-	2	426	c.427C>T	c.(427-429)Cga>Tga	p.R143*	HS3ST6_ENST00000454677.2_Nonsense_Mutation_p.R160*|HS3ST6_ENST00000443547.1_Nonsense_Mutation_p.R112*			Q96QI5	HS3S6_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	143					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			endometrium(2)|lung(2)	4						TCCAGGGTTCGGGGCATCAGA	0.692																																						ENST00000454677.2		NA																	0				endometrium(2)|lung(2)	4						c.(478-480)Cga>Tga		heparan sulfate (glucosamine) 3-O-sulfotransferase 6		G	stop/ARG	1,4379		0,1,2189	12.0	14.0	13.0		334	4.9	0.7	16		13	0,8588		0,0,4294	no	stop-gained	HS3ST6	NM_001009606.2		0,1,6483	AA,AG,GG		0.0,0.0228,0.0077		112/312	1962193	1,12967	2190	4294	6484	SO:0001587	stop_gained	64711							g.chr16:1962193G>A			16p13.3	2008-10-30	2003-06-11	2003-06-13	ENSG00000162040	ENSG00000162040		"""Sulfotransferases, membrane-bound"""	14178	protein-coding gene	gene with protein product			"""heparan sulfate (glucosamine) 3-O-sulfotransferase 5"""	HS3ST5		11157797	Standard	NM_001009606		Approved		uc002cnf.3	Q96QI5	OTTHUMG00000047860	ENST00000293937.3:c.427C>T	16.37:g.1962193G>A	ENSP00000293937:p.Arg143*	True	False		Somatic	0				HS3ST6_ENST00000443547.1_Nonsense_Mutation_p.R112*|HS3ST6_ENST00000293937.3_Nonsense_Mutation_p.R143*	p.R160*			WXS	Illumina HiSeq	Phase_I	C9JH64	C9JH64_HUMAN			2	543	-			112					Q96RX7	Nonsense_Mutation	SNP	ENST00000293937.3	37	c.478C>T		.	.	.	.	.	.	.	.	.	.	G	13.70	2.316851	0.40996	2.28E-4	0.0	ENSG00000162040	ENST00000293937;ENST00000443547;ENST00000454677	.	.	.	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2723	0.54712	0.0:0.0:0.8304:0.1696	.	.	.	.	X	143;112;182	.	ENSP00000293937:R143X	R	-	1	2	HS3ST6	1902194	0.990000	0.36364	0.651000	0.29564	0.066000	0.16364	2.443000	0.44881	2.287000	0.76781	0.555000	0.69702	CGA		0.692	HS3ST6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	NM_001009606		16:1962193
PCDHA2	56146	broad.mit.edu	37	5	140175222	140175222	+	Missense_Mutation	SNP	A	A	G			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr5:140175222A>G	ENST00000526136.1	+	1	673	c.673A>G	c.(673-675)Acc>Gcc	p.T225A	PCDHA2_ENST00000520672.2_Missense_Mutation_p.T225A|PCDHA2_ENST00000378132.1_Missense_Mutation_p.T225A|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	225	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCACGGGCACCGTTCAAAT	0.423																																						ENST00000526136.1		NA																	0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(673-675)Acc>Gcc									81.0	91.0	87.0					5																	140175222		2202	4300	6502	SO:0001583	missense	0							g.chr5:140175222A>G	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.673A>G	5.37:g.140175222A>G	ENSP00000431748:p.Thr225Ala	False	False		Somatic	0				PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.T225A|PCDHA2_ENST00000520672.2_Missense_Mutation_p.T225A	p.T225A	NM_018905.2	NP_061728.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	673	+			NA					O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.673A>G	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	a	14.46	2.541178	0.45280	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.56275	0.47;0.47;0.47	4.02	2.83	0.33086	Cadherin (4);Cadherin-like (1);	0.000000	0.40908	U	0.000988	T	0.69735	0.3144	M	0.92077	3.27	0.31199	N	0.699996	P;B;P	0.40266	0.71;0.374;0.71	B;P;B	0.50378	0.362;0.639;0.362	T	0.75105	-0.3435	10	0.87932	D	0	.	9.9392	0.41570	0.8476:0.0:0.0:0.1524	.	225;225;225	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	A	225	ENSP00000430584:T225A;ENSP00000367372:T225A;ENSP00000431748:T225A	ENSP00000367372:T225A	T	+	1	0	PCDHA2	140155406	0.998000	0.40836	0.981000	0.43875	0.995000	0.86356	4.169000	0.58223	0.681000	0.31386	0.528000	0.53228	ACC		0.423	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	0	NM_018905		5:140175222
PHYKPL	85007	broad.mit.edu	37	5	177642327	177642327	+	Missense_Mutation	SNP	C	C	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr5:177642327C>A	ENST00000308158.5	-	9	1266	c.1032G>T	c.(1030-1032)atG>atT	p.M344I	PHYKPL_ENST00000481811.1_5'UTR	NM_153373.2	NP_699204.1	Q8IUZ5	AT2L2_HUMAN	5-phosphohydroxy-L-lysine phospho-lyase	344						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)									L-Alanine(DB00160)	CGAGGAGCTGCATCAGGAAGC	0.617																																						ENST00000308158.5		NA																	0					NA						c.(1030-1032)atG>atT		5-phosphohydroxy-L-lysine phospho-lyase							48.0	42.0	44.0					5																	177642327		2203	4300	6503	SO:0001583	missense	85007							g.chr5:177642327C>A	BC037567	CCDS4434.1	5q35.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000175309	ENSG00000175309	4.2.3.134		28249	protein-coding gene	gene with protein product	"""5-phosphonooxy-L-lysine phospho-lyase"""	614683	"""alanine-glyoxylate aminotransferase 2-like 2"""	AGXT2L2		22241472	Standard	NM_153373		Approved	MGC15875	uc003miz.3	Q8IUZ5	OTTHUMG00000130892	ENST00000308158.5:c.1032G>T	5.37:g.177642327C>A	ENSP00000310978:p.Met344Ile	False	False		Somatic	0				PHYKPL_ENST00000481811.1_5'UTR	p.M344I	NM_153373.2	NP_699204.1	WXS	Illumina HiSeq	Phase_I					9	1266	-			NA					A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8	Missense_Mutation	SNP	ENST00000308158.5	37	c.1032G>T	CCDS4434.1	.	.	.	.	.	.	.	.	.	.	C	6.032	0.374255	0.11409	.	.	ENSG00000175309	ENST00000308158	T	0.18502	2.21	5.3	5.3	0.74995	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.182611	0.64402	D	0.000017	T	0.12008	0.0292	N	0.25286	0.73	0.80722	D	1	B;B	0.10296	0.001;0.003	B;B	0.13407	0.009;0.004	T	0.11275	-1.0594	10	0.29301	T	0.29	-7.605	11.5406	0.50665	0.1788:0.8212:0.0:0.0	.	344;344	A8K7P6;Q8IUZ5	.;AT2L2_HUMAN	I	344	ENSP00000310978:M344I	ENSP00000310978:M344I	M	-	3	0	AGXT2L2	177574933	1.000000	0.71417	1.000000	0.80357	0.564000	0.35744	1.815000	0.38981	2.480000	0.83734	0.561000	0.74099	ATG		0.617	PHYKPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253477.1	0	NM_032921		5:177642327
ATM	472	broad.mit.edu	37	11	108117798	108117798	+	Missense_Mutation	SNP	C	C	T	rs138398778		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr11:108117798C>T	ENST00000452508.2	+	9	1198	c.1009C>T	c.(1009-1011)Cgt>Tgt	p.R337C	ATM_ENST00000278616.4_Missense_Mutation_p.R337C			Q13315	ATM_HUMAN	ATM serine/threonine kinase	337			R -> C (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.|R -> H (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.R337C(3)|p.R337S(2)|p.F336_A340del(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TTCAGGATTTCGTAATATTGC	0.323			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4		NA	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		6	Substitution - Missense(5)|Deletion - In frame(1)	p.R337C(3)|p.R337S(2)|p.F336_A340del(1)	haematopoietic_and_lymphoid_tissue(3)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)	NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(1009-1011)Cgt>Tgt	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated		C	CYS/ARG	0,4402		0,0,2201	60.0	61.0	61.0		1009	5.7	1.0	11	dbSNP_134	61	1,8595	1.2+/-3.3	0,1,4297	yes	missense	ATM	NM_000051.3	180	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	337/3057	108117798	1,12997	2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108117798C>T	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.1009C>T	11.37:g.108117798C>T	ENSP00000388058:p.Arg337Cys	True	False	TSP Lung(14;0.12)	Somatic	0				ATM_ENST00000452508.2_Missense_Mutation_p.R337C	p.R337C	NM_000051.3	NP_000042	WXS	Illumina HiSeq	Phase_I	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	8	1394	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	337		R -> C (in a colorectal adenocarcinoma sample; somatic mutation).|R -> H (in a colorectal adenocarcinoma sample; somatic mutation).			B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.1009C>T	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.568847	0.86439	0.0	1.16E-4	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.02369	4.32;4.62;4.62	5.72	5.72	0.89469	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.15565	0.0375	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.00022	-1.2342	10	0.87932	D	0	.	19.8868	0.96915	0.0:1.0:0.0:0.0	.	337	Q13315	ATM_HUMAN	C	337	ENSP00000435747:R337C;ENSP00000278616:R337C;ENSP00000388058:R337C	ENSP00000278616:R337C	R	+	1	0	ATM	107623008	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.213000	0.58520	2.709000	0.92574	0.655000	0.94253	CGT		0.323	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	0	NM_000051		11:108117798
LHX5	64211	broad.mit.edu	37	12	113906184	113906184	+	Missense_Mutation	SNP	C	C	G			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr12:113906184C>G	ENST00000261731.3	-	3	996	c.423G>C	c.(421-423)ttG>ttC	p.L141F		NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	141					cell proliferation in forebrain (GO:0021846)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|forebrain neuron differentiation (GO:0021879)|hippocampus development (GO:0021766)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						GGTCCGGGGACAAACTGCGGT	0.642																																						ENST00000261731.3		NA																	0				NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						c.(421-423)ttG>ttC		LIM homeobox 5							85.0	68.0	74.0					12																	113906184		2203	4300	6503	SO:0001583	missense	64211					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:113906184C>G	AF291181	CCDS9171.1	12q24.13	2014-01-15			ENSG00000089116	ENSG00000089116		"""Homeoboxes / LIM class"""	14216	protein-coding gene	gene with protein product		605992					Standard	NM_022363		Approved		uc001tvj.1	Q9H2C1	OTTHUMG00000169552	ENST00000261731.3:c.423G>C	12.37:g.113906184C>G	ENSP00000261731:p.Leu141Phe	True	False		Somatic	0					p.L141F	NM_022363.2	NP_071758.1	WXS	Illumina HiSeq	Phase_I	Q9H2C1	LHX5_HUMAN			3	996	-			141					Q32MA4	Missense_Mutation	SNP	ENST00000261731.3	37	c.423G>C	CCDS9171.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.838936	0.51057	.	.	ENSG00000089116	ENST00000261731	D	0.91945	-2.94	4.85	2.98	0.34508	.	0.000000	0.43747	D	0.000537	D	0.89451	0.6719	L	0.59436	1.845	0.51767	D	0.999931	P	0.40332	0.713	B	0.44044	0.439	D	0.85201	0.1015	10	0.16896	T	0.51	.	9.9534	0.41653	0.0:0.7986:0.0:0.2014	.	141	Q9H2C1	LHX5_HUMAN	F	141	ENSP00000261731:L141F	ENSP00000261731:L141F	L	-	3	2	LHX5	112390567	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.206000	0.32321	2.213000	0.71641	0.491000	0.48974	TTG		0.642	LHX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404788.3	0	NM_022363		12:113906184
ANGEL2	90806	broad.mit.edu	37	1	213178773	213178773	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr1:213178773G>A	ENST00000366962.3	-	5	890	c.736C>T	c.(736-738)Cgg>Tgg	p.R246W	ANGEL2_ENST00000544555.1_Missense_Mutation_p.R77W|ANGEL2_ENST00000535388.1_Missense_Mutation_p.R77W|ANGEL2_ENST00000360506.2_Missense_Mutation_p.R77W|ANGEL2_ENST00000540642.1_Missense_Mutation_p.R120W	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	246										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		CTTCCTGTCCGCATCTTATAT	0.368																																						ENST00000366962.3		NA																	0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24						c.(736-738)Cgg>Tgg		angel homolog 2 (Drosophila)							93.0	99.0	97.0					1																	213178773		2189	4299	6488	SO:0001583	missense	90806							g.chr1:213178773G>A	AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.736C>T	1.37:g.213178773G>A	ENSP00000355929:p.Arg246Trp	False	False		Somatic	0				ANGEL2_ENST00000540642.1_Missense_Mutation_p.R120W|ANGEL2_ENST00000360506.2_Missense_Mutation_p.R77W|ANGEL2_ENST00000544555.1_Missense_Mutation_p.R77W|ANGEL2_ENST00000535388.1_Missense_Mutation_p.R77W	p.R246W	NM_144567.3	NP_653168.2	WXS	Illumina HiSeq	Phase_I	Q5VTE6	ANGE2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)	5	890	-			246					B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Missense_Mutation	SNP	ENST00000366962.3	37	c.736C>T	CCDS1512.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682310	0.68042	.	.	ENSG00000174606	ENST00000366962;ENST00000360506;ENST00000544555;ENST00000540642;ENST00000535388	D;D;D;D;D	0.95724	-3.79;-3.6;-3.6;-3.79;-3.6	5.45	2.42	0.29668	Endonuclease/exonuclease/phosphatase (2);	0.060391	0.64402	D	0.000003	D	0.97798	0.9277	M	0.93420	3.415	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.96627	0.9464	10	0.59425	D	0.04	-10.8417	8.9311	0.35670	0.072:0.0:0.4718:0.4562	.	120;246	F5H476;Q5VTE6	.;ANGE2_HUMAN	W	246;77;77;120;77	ENSP00000355929:R246W;ENSP00000353696:R77W;ENSP00000443193:R77W;ENSP00000446124:R120W;ENSP00000438141:R77W	ENSP00000353696:R77W	R	-	1	2	ANGEL2	211245396	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.237000	0.32695	0.297000	0.22615	0.650000	0.86243	CGG		0.368	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089693.1	0	NM_144567		1:213178773
BOD1L1	259282	broad.mit.edu	37	4	13601941	13601941	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr4:13601941G>A	ENST00000040738.5	-	10	6718	c.6583C>T	c.(6583-6585)Ccc>Tcc	p.P2195S		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2195						nucleus (GO:0005634)	DNA binding (GO:0003677)										GGCGCACTGGGCATAGGCCCC	0.527																																						ENST00000040738.5		NA																	0					NA						c.(6583-6585)Ccc>Tcc		biorientation of chromosomes in cell division 1-like 1							73.0	63.0	66.0					4																	13601941		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13601941G>A	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.6583C>T	4.37:g.13601941G>A	ENSP00000040738:p.Pro2195Ser	True	False		Somatic	0					p.P2195S	NM_148894.2	NP_683692.2	WXS	Illumina HiSeq	Phase_I	Q8NFC6	BOD1L_HUMAN			10	6718	-			2195					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.6583C>T	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304318	0.23736	.	.	ENSG00000038219	ENST00000040738	T	0.06608	3.28	5.33	4.36	0.52297	.	0.124052	0.37012	N	0.002292	T	0.03651	0.0104	N	0.17723	0.515	0.36919	D	0.891272	P	0.38473	0.633	B	0.29862	0.108	T	0.50898	-0.8773	10	0.33940	T	0.23	-3.7133	9.1929	0.37211	0.1365:0.0:0.8635:0.0	.	2195	Q8NFC6	BOD1L_HUMAN	S	2195	ENSP00000040738:P2195S	ENSP00000040738:P2195S	P	-	1	0	BOD1L	13211039	1.000000	0.71417	1.000000	0.80357	0.612000	0.37316	2.490000	0.45294	2.504000	0.84457	0.555000	0.69702	CCC		0.527	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	0	NM_148894		4:13601941
MYO16	23026	broad.mit.edu	37	13	109777647	109777647	+	Silent	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr13:109777647C>T	ENST00000357550.2	+	29	3698	c.3657C>T	c.(3655-3657)aaC>aaT	p.N1219N	MYO16_ENST00000457511.2_Silent_p.N731N|MYO16_ENST00000356711.2_Silent_p.N1219N	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GTGAAATGAACGCTCCCTACC	0.458																																						ENST00000356711.2		NA																	0				NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.(3655-3657)aaC>aaT		myosin XVI							62.0	58.0	59.0					13																	109777647		2203	4300	6503	SO:0001819	synonymous_variant	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109777647C>T		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.3657C>T	13.37:g.109777647C>T		False	False		Somatic	0				MYO16_ENST00000457511.2_Silent_p.N731N|MYO16_ENST00000357550.2_Silent_p.N1219N	p.N1219N	NM_015011.1	NP_055826.1	WXS	Illumina HiSeq	Phase_I	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		30	3783	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		1219						Silent	SNP	ENST00000357550.2	37	c.3657C>T	CCDS32008.1																																																																																				0.458	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	0	NM_015011		13:109777647
SIRPA	140885	broad.mit.edu	37	20	1902132	1902132	+	Silent	SNP	A	A	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr20:1902132A>T	ENST00000358771.4	+	3	680	c.528A>T	c.(526-528)tcA>tcT	p.S176S	SIRPA_ENST00000356025.3_Silent_p.S176S|SIRPA_ENST00000400068.3_Silent_p.S176S	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	176	Ig-like C1-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S176S(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		ACGGCTTCTCACCCAGAGACA	0.582																																					GBM(155;1668 1920 5945 42733 48121)	ENST00000358771.4		NA																	1	Substitution - coding silent(1)	p.S176S(1)	kidney(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(526-528)tcA>tcT		signal-regulatory protein alpha							70.0	67.0	68.0					20																	1902132		2203	4297	6500	SO:0001819	synonymous_variant	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1902132A>T	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.528A>T	20.37:g.1902132A>T		True	False		Somatic	0				SIRPA_ENST00000400068.3_Silent_p.S176S|SIRPA_ENST00000356025.3_Silent_p.S176S	p.S176S	NM_001040023.1	NP_001035112.1	WXS	Illumina HiSeq	Phase_I	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	3	680	+			176			Ig-like C1-type 1.		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Silent	SNP	ENST00000358771.4	37	c.528A>T	CCDS13022.1																																																																																				0.582	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	0	NM_080792		20:1902132
MDM1	56890	broad.mit.edu	37	12	68719231	68719231	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr12:68719231G>A	ENST00000303145.7	-	4	709	c.623C>T	c.(622-624)gCa>gTa	p.A208V	MDM1_ENST00000540418.1_5'UTR|MDM1_ENST00000411698.2_Intron|MDM1_ENST00000430606.2_3'UTR|MDM1_ENST00000545724.1_5'UTR|MDM1_ENST00000393543.3_3'UTR	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	208					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		CTGATTGGCTGCAAAAGCTGG	0.338																																						ENST00000303145.7		NA																	0				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33						c.(622-624)gCa>gTa		Mdm1 nuclear protein homolog (mouse)							121.0	133.0	129.0					12																	68719231		2203	4300	6503	SO:0001583	missense	56890					nucleus		g.chr12:68719231G>A	AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"""Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"""			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.623C>T	12.37:g.68719231G>A	ENSP00000302537:p.Ala208Val	False	False		Somatic	0				MDM1_ENST00000393543.3_3'UTR|MDM1_ENST00000540418.1_5'UTR|MDM1_ENST00000430606.2_3'UTR|MDM1_ENST00000411698.2_Intron|MDM1_ENST00000545724.1_5'UTR	p.A208V	NM_017440.4	NP_059136.2	WXS	Illumina HiSeq	Phase_I	Q8TC05	MDM1_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)	4	709	-			208					B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Missense_Mutation	SNP	ENST00000303145.7	37	c.623C>T	CCDS8983.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677391	0.68042	.	.	ENSG00000111554	ENST00000303145;ENST00000541686	T;T	0.28454	1.61;1.61	5.29	5.29	0.74685	.	0.230365	0.43579	D	0.000546	T	0.48714	0.1515	M	0.75264	2.295	0.80722	D	1	D	0.55172	0.97	P	0.51657	0.676	T	0.47787	-0.9090	9	.	.	.	-1.8086	19.3236	0.94252	0.0:0.0:1.0:0.0	.	208	Q8TC05	MDM1_HUMAN	V	208;203	ENSP00000302537:A208V;ENSP00000446000:A203V	.	A	-	2	0	MDM1	67005498	1.000000	0.71417	0.993000	0.49108	0.975000	0.68041	5.010000	0.64004	2.654000	0.90174	0.561000	0.74099	GCA		0.338	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402402.1	0	NM_020128		12:68719231
PDYN	5173	broad.mit.edu	37	20	1961195	1961195	+	Missense_Mutation	SNP	C	C	T	rs377075531		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr20:1961195C>T	ENST00000217305.2	-	4	764	c.539G>A	c.(538-540)cGc>cAc	p.R180H	PDYN_ENST00000539905.1_Missense_Mutation_p.R180H|PDYN_ENST00000540134.1_Missense_Mutation_p.R180H|RP4-684O24.5_ENST00000446562.1_RNA	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	180					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGGGTATTTGCGCAAAAAGCC	0.602																																						ENST00000217305.2		NA																	0				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(538-540)cGc>cAc		prodynorphin							99.0	103.0	102.0					20																	1961195		2203	4300	6503	SO:0001583	missense	5173				cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	g.chr20:1961195C>T		CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"""Endogenous ligands"""	8820	protein-coding gene	gene with protein product	"""preproenkephalin B"", ""rimorphin"", ""beta-neoendorphin"", ""dynorphin"", ""leu-enkephalin"", ""leumorphin"", ""neoendorphin-dynorphin-enkephalin prepropeptide"""	131340	"""spinocerebellar ataxia 23"""	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.539G>A	20.37:g.1961195C>T	ENSP00000217305:p.Arg180His	False	False		Somatic	0				RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Missense_Mutation_p.R180H|PDYN_ENST00000539905.1_Missense_Mutation_p.R180H	p.R180H	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	WXS	Illumina HiSeq	Phase_I	P01213	PDYN_HUMAN			4	764	-			180					A8K0Q3	Missense_Mutation	SNP	ENST00000217305.2	37	c.539G>A	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772531	0.90108	.	.	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	D;D;D	0.86769	-2.17;-2.17;-2.17	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.94162	0.8127	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95090	0.8221	10	0.87932	D	0	-18.2484	15.1657	0.72821	0.0:1.0:0.0:0.0	.	180	P01213	PDYN_HUMAN	H	180	ENSP00000440185:R180H;ENSP00000442259:R180H;ENSP00000217305:R180H	ENSP00000217305:R180H	R	-	2	0	PDYN	1909195	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.652000	0.61454	2.445000	0.82738	0.313000	0.20887	CGC		0.602	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2	0			20:1961195
NLRP3	114548	broad.mit.edu	37	1	247587616	247587616	+	Missense_Mutation	SNP	G	G	A	rs145092553		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr1:247587616G>A	ENST00000336119.3	+	3	1617	c.871G>A	c.(871-873)Gtg>Atg	p.V291M	NLRP3_ENST00000366497.2_Missense_Mutation_p.V291M|NLRP3_ENST00000348069.2_Missense_Mutation_p.V291M|NLRP3_ENST00000366496.2_Missense_Mutation_p.V291M|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Missense_Mutation_p.V291M|NLRP3_ENST00000391828.3_Missense_Mutation_p.V291M	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	291	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CCACAAGATCGTGAGAAAACC	0.562																																						ENST00000366497.2		NA																	0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(871-873)Gtg>Atg		NLR family, pyrin domain containing 3		G	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	71.0	72.0	72.0		871,871,871,871,871	-3.9	0.1	1	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	NLRP3	NM_001079821.2,NM_001127461.2,NM_001127462.2,NM_004895.4,NM_183395.2	21,21,21,21,21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	291/1037,291/980,291/980,291/1037,291/923	247587616	1,13005	2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247587616G>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.871G>A	1.37:g.247587616G>A	ENSP00000337383:p.Val291Met	False	False		Somatic	0				NLRP3_ENST00000336119.3_Missense_Mutation_p.V291M|NLRP3_ENST00000391827.2_Missense_Mutation_p.V291M|NLRP3_ENST00000348069.2_Missense_Mutation_p.V291M|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.V291M|NLRP3_ENST00000366496.2_Missense_Mutation_p.V291M	p.V291M	NM_001127461.2	NP_001120933.1	WXS	Illumina HiSeq	Phase_I	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		4	1651	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	291			NACHT.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.871G>A	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	0.829	-0.746010	0.03065	0.0	1.16E-4	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52	4.04	-3.93	0.04143	NACHT nucleoside triphosphatase (1);	0.890365	0.09442	N	0.801583	T	0.51381	0.1671	N	0.13003	0.285	0.09310	N	1	B;B;P;B;B	0.40602	0.07;0.057;0.723;0.194;0.038	B;B;B;B;B	0.31495	0.025;0.015;0.131;0.04;0.028	T	0.51764	-0.8664	10	0.16420	T	0.52	.	2.6671	0.05056	0.1107:0.4328:0.1811:0.2754	.	291;291;291;291;291	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	M	291	ENSP00000375704:V291M;ENSP00000355453:V291M;ENSP00000337383:V291M;ENSP00000294752:V291M;ENSP00000355452:V291M;ENSP00000375703:V291M	ENSP00000337383:V291M	V	+	1	0	NLRP3	245654239	0.004000	0.15560	0.095000	0.20976	0.012000	0.07955	0.080000	0.14802	-0.743000	0.04784	0.563000	0.77884	GTG		0.562	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	0	NM_004895		1:247587616
SMAD4	4089	broad.mit.edu	37	18	48591889	48591889	+	Missense_Mutation	SNP	A	A	C			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr18:48591889A>C	ENST00000342988.3	+	9	1590	c.1052A>C	c.(1051-1053)gAt>gCt	p.D351A	SMAD4_ENST00000398417.2_Missense_Mutation_p.D351A|SMAD4_ENST00000588745.1_Missense_Mutation_p.D255A	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	351	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.		D -> N (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GTTACTGTTGATGGATACGTG	0.438																																						ENST00000342988.3		NA																	38	Whole gene deletion(36)|Unknown(2)	p.0?(36)|p.?(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(1051-1053)gAt>gCt		SMAD family member 4							237.0	199.0	212.0					18																	48591889		2203	4300	6503	SO:0001583	missense	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48591889A>C	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1052A>C	18.37:g.48591889A>C	ENSP00000341551:p.Asp351Ala	False	False		Somatic	0				SMAD4_ENST00000398417.2_Missense_Mutation_p.D351A|SMAD4_ENST00000588745.1_Missense_Mutation_p.D255A	p.D351A	NM_005359.5	NP_005350.1	WXS	Illumina HiSeq	Phase_I	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	9	1590	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	351		D -> N (in a colorectal cancer sample; somatic mutation).	MH2.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.1052A>C	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	A	28.7	4.942647	0.92526	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98437	-4.93;-4.93	5.86	5.86	0.93980	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.044633	0.85682	D	0.000000	D	0.99239	0.9735	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99069	1.0833	10	0.87932	D	0	.	15.2431	0.73485	1.0:0.0:0.0:0.0	.	351	Q13485	SMAD4_HUMAN	A	351	ENSP00000341551:D351A;ENSP00000381452:D351A	ENSP00000341551:D351A	D	+	2	0	SMAD4	46845887	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.159000	0.94728	2.237000	0.73441	0.460000	0.39030	GAT		0.438	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	0	NM_005359		18:48591889
CDC73	79577	broad.mit.edu	37	1	193111023	193111023	+	Missense_Mutation	SNP	A	A	G			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr1:193111023A>G	ENST00000367435.3	+	7	740	c.556A>G	c.(556-558)Aaa>Gaa	p.K186E		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	186				AIKA -> CNQT (in Ref. 2; BAB15608). {ECO:0000305}.	cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						TGCTGCAATCAAAGCCAAAAT	0.363																																						ENST00000367435.3		NA																	0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						c.(556-558)Aaa>Gaa		cell division cycle 73							54.0	49.0	51.0					1																	193111023		2203	4300	6503	SO:0001583	missense	79577				cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr1:193111023A>G	AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"""Paf1/RNA polymerase II complex component"""	607393	"""chromosome 1 open reading frame 28"", ""hyperparathyroidism 2 (with jaw tumor)"", ""cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"", ""hyperparathyroidism 1"""	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.556A>G	1.37:g.193111023A>G	ENSP00000356405:p.Lys186Glu	True	False		Somatic	0					p.K186E	NM_024529.4	NP_078805.3	WXS	Illumina HiSeq	Phase_I	Q6P1J9	CDC73_HUMAN			7	740	+			186	AIKA -> CNQT (in Ref. 2; BAB15608).				A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	ENST00000367435.3	37	c.556A>G	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.913112	0.92178	.	.	ENSG00000134371	ENST00000367435;ENST00000445394	D	0.89617	-2.54	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.94009	0.8081	M	0.78916	2.43	0.80722	D	1	D	0.76494	0.999	D	0.66497	0.944	D	0.94174	0.7426	10	0.56958	D	0.05	-23.6629	16.5582	0.84512	1.0:0.0:0.0:0.0	.	186	Q6P1J9	CDC73_HUMAN	E	186	ENSP00000356405:K186E	ENSP00000356405:K186E	K	+	1	0	CDC73	191377646	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.109000	0.94291	2.308000	0.77769	0.533000	0.62120	AAA		0.363	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	0	NM_024529		1:193111023
CEP112	201134	broad.mit.edu	37	17	64173012	64173012	+	Missense_Mutation	SNP	G	G	A	rs150126064	byFrequency	TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr17:64173012G>A	ENST00000392769.2	-	3	451	c.233C>T	c.(232-234)gCg>gTg	p.A78V	CEP112_ENST00000537949.1_Missense_Mutation_p.A78V|CEP112_ENST00000535342.2_Missense_Mutation_p.A78V	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	78					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						GCCTTCAAGCGCACCTCGTTT	0.423																																						ENST00000392769.2		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						c.(232-234)gCg>gTg		centrosomal protein 112kDa		G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	135.0	117.0	123.0		233,233	-0.9	0.0	17	dbSNP_134	123	4,8596	3.0+/-9.4	0,4,4296	yes	missense,missense	CEP112	NM_001199165.1,NM_145036.3	64,64	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	benign,benign	78/956,78/956	64173012	4,13002	2203	4300	6503	SO:0001583	missense	201134					centrosome		g.chr17:64173012G>A	AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.233C>T	17.37:g.64173012G>A	ENSP00000376522:p.Ala78Val	False	False		Somatic	0				CEP112_ENST00000537949.1_Missense_Mutation_p.A78V|CEP112_ENST00000535342.2_Missense_Mutation_p.A78V	p.A78V	NM_145036.3	NP_659473.2	WXS	Illumina HiSeq	Phase_I	Q8N8E3	CE112_HUMAN			3	451	-			78					Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	ENST00000392769.2	37	c.233C>T	CCDS32710.1	.	.	.	.	.	.	.	.	.	.	G	2.245	-0.372938	0.05034	0.0	4.65E-4	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000537949	T;T;T	0.38401	1.16;1.16;1.14	5.33	-0.924	0.10462	.	0.817271	0.10515	N	0.665636	T	0.06416	0.0165	N	0.00368	-1.59	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28870	-1.0030	10	0.02654	T	1	-0.3383	2.0237	0.03514	0.492:0.1211:0.27:0.1168	.	78;78	F5GYE8;Q8N8E3	.;CE112_HUMAN	V	78	ENSP00000442784:A78V;ENSP00000376522:A78V;ENSP00000440775:A78V	ENSP00000376522:A78V	A	-	2	0	CEP112	61603474	0.029000	0.19370	0.000000	0.03702	0.879000	0.50718	3.088000	0.50175	-0.549000	0.06191	-0.295000	0.09555	GCG		0.423	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	0	NM_145036		17:64173012
ENPP7	339221	broad.mit.edu	37	17	77705082	77705082	+	Missense_Mutation	SNP	G	G	A	rs551732034		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr17:77705082G>A	ENST00000328313.5	+	1	402	c.181G>A	c.(181-183)Ggg>Agg	p.G61R		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGCCCGAGACGGGGTGAAGGC	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		16426	0.001		0.0	False		,,,				2504	0.0					ENST00000328313.5		NA																	0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34						c.(181-183)Ggg>Agg		ectonucleotide pyrophosphatase/phosphodiesterase 7							59.0	50.0	53.0					17																	77705082		2203	4300	6503	SO:0001583	missense	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77705082G>A	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"""alkaline sphingomyelinase"""					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.181G>A	17.37:g.77705082G>A	ENSP00000332656:p.Gly61Arg	True	False		Somatic	0					p.G61R	NM_178543.3	NP_848638.3	WXS	Illumina HiSeq	Phase_I	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		1	402	+			61						Missense_Mutation	SNP	ENST00000328313.5	37	c.181G>A	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.895068	0.72639	.	.	ENSG00000182156	ENST00000328313	D	0.86366	-2.11	4.36	3.39	0.38822	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.95111	0.8416	H	0.96861	3.895	0.80722	D	1	D	0.71674	0.998	D	0.70016	0.967	D	0.95700	0.8748	10	0.87932	D	0	-44.2888	12.2432	0.54555	0.0846:0.0:0.9154:0.0	.	61	Q6UWV6	ENPP7_HUMAN	R	61	ENSP00000332656:G61R	ENSP00000332656:G61R	G	+	1	0	ENPP7	75319677	1.000000	0.71417	0.720000	0.30636	0.696000	0.40369	5.370000	0.66144	1.038000	0.40049	0.561000	0.74099	GGG		0.647	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	0	NM_178543		17:77705082
PRKRIR	5612	broad.mit.edu	37	11	76063580	76063580	+	Missense_Mutation	SNP	A	A	G			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr11:76063580A>G	ENST00000260045.3	-	5	719	c.614T>C	c.(613-615)cTg>cCg	p.L205P	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	205					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						CCGACACTCCAGCAGTGCCTG	0.438																																						ENST00000260045.3		NA																	0				cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						c.(613-615)cTg>cCg		protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)							40.0	39.0	39.0					11																	76063580		2199	4287	6486	SO:0001583	missense	5612				negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity	g.chr11:76063580A>G	AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"""THAP (C2CH-type zinc finger) domain containing"""	9440	protein-coding gene	gene with protein product	"""THAP domain containing 12"""	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.614T>C	11.37:g.76063580A>G	ENSP00000260045:p.Leu205Pro	False	False		Somatic	0					p.L205P	NM_004705.2	NP_004696.2	WXS	Illumina HiSeq	Phase_I	O43422	P52K_HUMAN			5	719	-			205					A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Missense_Mutation	SNP	ENST00000260045.3	37	c.614T>C	CCDS8243.1	.	.	.	.	.	.	.	.	.	.	A	18.40	3.615922	0.66672	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	.	.	.	4.75	4.75	0.60458	.	0.061993	0.64402	D	0.000003	T	0.77452	0.4132	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.80759	-0.1239	9	0.87932	D	0	.	14.5953	0.68400	1.0:0.0:0.0:0.0	.	205	O43422	P52K_HUMAN	P	30;205	.	ENSP00000260045:L205P	L	-	2	0	PRKRIR	75741228	1.000000	0.71417	0.993000	0.49108	0.908000	0.53690	8.562000	0.90719	1.925000	0.55765	0.397000	0.26171	CTG		0.438	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383188.1	0	NM_004705		11:76063580
SPTA1	6708	broad.mit.edu	37	1	158605758	158605758	+	Missense_Mutation	SNP	G	G	A	rs375618954		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr1:158605758G>A	ENST00000368147.4	-	38	5557	c.5377C>T	c.(5377-5379)Cgg>Tgg	p.R1793W		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1793					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGAGCCAGCCGCAACTGGATC	0.522																																						ENST00000368147.4		NA																	0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(5377-5379)Cgg>Tgg		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		G	TRP/ARG	0,3960		0,0,1980	116.0	123.0	121.0		5377	3.6	1.0	1		121	1,8319		0,1,4159	no	missense	SPTA1	NM_003126.2	101	0,1,6139	AA,AG,GG		0.012,0.0,0.0081	probably-damaging	1793/2420	158605758	1,12279	1980	4160	6140	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158605758G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5377C>T	1.37:g.158605758G>A	ENSP00000357129:p.Arg1793Trp	True	False		Somatic	0					p.R1793W	NM_003126.2	NP_003117.2	WXS	Illumina HiSeq	Phase_I	P02549	SPTA1_HUMAN			38	5557	-	all_hematologic(112;0.0378)		NA					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.5377C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033837	0.54896	0.0	1.2E-4	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.56444	0.46;0.46	5.65	3.62	0.41486	.	0.000000	0.29266	N	0.012655	T	0.70736	0.3258	M	0.89840	3.065	0.50467	D	0.999872	D	0.89917	1.0	D	0.97110	1.0	T	0.78663	-0.2116	10	0.87932	D	0	.	13.3664	0.60687	0.0:0.0:0.6481:0.3519	.	1793	P02549	SPTA1_HUMAN	W	1793	ENSP00000357130:R1793W;ENSP00000357129:R1793W	ENSP00000357129:R1793W	R	-	1	2	SPTA1	156872382	1.000000	0.71417	0.987000	0.45799	0.205000	0.24178	2.658000	0.46733	1.575000	0.49775	0.655000	0.94253	CGG		0.522	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	0	NM_003126		1:158605758
C9orf3	84909	broad.mit.edu	37	9	97843044	97843044	+	Missense_Mutation	SNP	G	G	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr9:97843044G>T	ENST00000375315.2	+	14	2301	c.2301G>T	c.(2299-2301)agG>agT	p.R767S	C9orf3_ENST00000297979.5_Missense_Mutation_p.R668S|C9orf3_ENST00000433691.2_Missense_Mutation_p.R108S|C9orf3_ENST00000425634.2_Missense_Mutation_p.R129S	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	767					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GTGTGGAGAGGTTCCTTCAGG	0.502																																						ENST00000375315.2		NA																	0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(2299-2301)agG>agT		chromosome 9 open reading frame 3							158.0	138.0	145.0					9																	97843044		2203	4300	6503	SO:0001583	missense	84909				leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr9:97843044G>T	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.2301G>T	9.37:g.97843044G>T	ENSP00000364464:p.Arg767Ser	False	False		Somatic	0				C9orf3_ENST00000297979.5_Missense_Mutation_p.R668S|C9orf3_ENST00000433691.2_Missense_Mutation_p.R108S|C9orf3_ENST00000425634.2_Missense_Mutation_p.R129S	p.R767S	NM_001193329.1	NP_001180258.1	WXS	Illumina HiSeq	Phase_I	Q8N6M6	AMPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.000275)	14	2301	+			767					Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	ENST00000375315.2	37	c.2301G>T	CCDS55328.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.86|12.86	2.063994|2.063994	0.36373|0.36373	.|.	.|.	ENSG00000148120|ENSG00000148120	ENST00000297979;ENST00000375315;ENST00000424143;ENST00000428313;ENST00000425634;ENST00000433691;ENST00000375314|ENST00000445181	T;T;T;T;T;T|.	0.41400|.	1.0;1.0;1.0;1.0;1.0;1.0|.	5.57|5.57	-11.1|-11.1	0.00147|0.00147	Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);|.	0.730929|.	0.12958|.	N|.	0.425271|.	T|T	0.34308|0.34308	0.0893|0.0893	L|L	0.57536|0.57536	1.79|1.79	0.22156|0.22156	N|N	0.999328|0.999328	P;P;B;B;B|.	0.48834|.	0.845;0.916;0.095;0.418;0.306|.	P;P;B;B;B|.	0.51657|.	0.676;0.515;0.053;0.085;0.169|.	T|T	0.36939|0.36939	-0.9727|-0.9727	10|5	0.11485|.	T|.	0.65|.	0.0602|0.0602	6.0437|6.0437	0.19748|0.19748	0.1409:0.4072:0.3673:0.0845|0.1409:0.4072:0.3673:0.0845	.|.	108;129;767;668;668|.	B4DU39;B4DQU3;Q8N6M6;Q8N6M6-4;Q8N6M6-2|.	.;.;AMPO_HUMAN;.;.|.	S|F	668;767;491;549;129;108;131|132	ENSP00000297979:R668S;ENSP00000364464:R767S;ENSP00000402171:R491S;ENSP00000401854:R549S;ENSP00000411815:R129S;ENSP00000399365:R108S|.	ENSP00000297979:R668S|.	R|V	+|+	3|1	2|0	C9orf3|C9orf3	96882865|96882865	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.090000|0.090000	0.18270|0.18270	-1.167000|-1.167000	0.03126|0.03126	-1.392000|-1.392000	0.02082|0.02082	-0.378000|-0.378000	0.06908|0.06908	AGG|GTT		0.502	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	NM_032823		9:97843044
NUDT19	390916	broad.mit.edu	37	19	33183406	33183406	+	Silent	SNP	G	G	C			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr19:33183406G>C	ENST00000397061.3	+	1	540	c.540G>C	c.(538-540)cgG>cgC	p.R180R	CTD-2538C1.2_ENST00000592431.1_lincRNA	NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	180	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					ACTTCCTGCGGCTGTGCGCCC	0.731																																						ENST00000397061.3		NA																	0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(538-540)cgG>cgC		nudix (nucleoside diphosphate linked moiety X)-type motif 19							4.0	5.0	5.0					19																	33183406		1793	3922	5715	SO:0001819	synonymous_variant	390916					mitochondrion|peroxisome	hydrolase activity|metal ion binding	g.chr19:33183406G>C		CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965		"""Nudix motif containing"""	32036	protein-coding gene	gene with protein product							Standard	NM_001105570		Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.540G>C	19.37:g.33183406G>C		False	False		Somatic	0					p.R180R	NM_001105570.1	NP_001099040.1	WXS	Illumina HiSeq	Phase_I	A8MXV4	NUD19_HUMAN			1	540	+	Esophageal squamous(110;0.137)		180			Nudix hydrolase.			Silent	SNP	ENST00000397061.3	37	c.540G>C	CCDS42543.1																																																																																				0.731	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000450338.3	0	XM_372723		19:33183406
ZNF382	84911	broad.mit.edu	37	19	37118421	37118421	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr19:37118421C>T	ENST00000292928.2	+	5	1735	c.1622C>T	c.(1621-1623)aCt>aTt	p.T541I	ZNF382_ENST00000435416.1_Missense_Mutation_p.T540I|CTD-3234P18.2_ENST00000585467.1_lincRNA|ZNF382_ENST00000423582.1_Missense_Mutation_p.T492I|ZNF382_ENST00000439428.1_Missense_Mutation_p.T540I	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	541	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding. {ECO:0000250}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CATCAGAAAACTCACAAGGTA	0.383																																						ENST00000435416.1		NA																	0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34						c.(1618-1620)aCt>aTt		zinc finger protein 382							66.0	65.0	65.0					19																	37118421		2203	4300	6503	SO:0001583	missense	84911				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37118421C>T	AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"""Zinc fingers, C2H2-type"", ""-"""	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.1622C>T	19.37:g.37118421C>T	ENSP00000292928:p.Thr541Ile	True	False		Somatic	0				ZNF382_ENST00000439428.1_Missense_Mutation_p.T540I|ZNF382_ENST00000292928.2_Missense_Mutation_p.T541I|ZNF382_ENST00000423582.1_Missense_Mutation_p.T492I	p.T540I			WXS	Illumina HiSeq	Phase_I	Q96SR6	ZN382_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		3	3114	+	Esophageal squamous(110;0.198)		541			Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).		A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Missense_Mutation	SNP	ENST00000292928.2	37	c.1619C>T	CCDS33004.1	.	.	.	.	.	.	.	.	.	.	C	0.024	-1.392618	0.01185	.	.	ENSG00000161298	ENST00000423582;ENST00000292928;ENST00000439428;ENST00000435416	T;T;T;T	0.06687	3.27;3.38;3.39;3.4	4.35	2.24	0.28232	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.155759	0.30277	N	0.009982	T	0.02380	0.0073	N	0.02802	-0.49	0.29661	N	0.843215	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.40997	-0.9533	10	0.07813	T	0.8	.	4.1521	0.10242	0.0:0.5955:0.1948:0.2097	.	540;540;541	Q96SR6-2;Q96SR6-3;Q96SR6	.;.;ZN382_HUMAN	I	492;541;540;540	ENSP00000389722:T492I;ENSP00000292928:T541I;ENSP00000407593:T540I;ENSP00000410113:T540I	ENSP00000292928:T541I	T	+	2	0	ZNF382	41810261	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	-0.905000	0.04075	1.192000	0.43071	0.591000	0.81541	ACT		0.383	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109562.2	0	NM_032825		19:37118421
NLRP2	55655	broad.mit.edu	37	19	55494938	55494938	+	Silent	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr19:55494938G>A	ENST00000543010.1	+	6	2015	c.1872G>A	c.(1870-1872)caG>caA	p.Q624Q	NLRP2_ENST00000391721.4_Silent_p.Q600Q|NLRP2_ENST00000448584.2_Silent_p.Q624Q|NLRP2_ENST00000427260.2_Silent_p.Q601Q|NLRP2_ENST00000263437.6_Silent_p.Q621Q|NLRP2_ENST00000538819.1_Silent_p.Q600Q|NLRP2_ENST00000339757.7_Silent_p.Q602Q|NLRP2_ENST00000537859.1_Silent_p.Q602Q	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	624					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TGATGGCTCAGTTCAAAGAAA	0.502																																						ENST00000543010.1		NA																	0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(1870-1872)caG>caA		NLR family, pyrin domain containing 2							110.0	88.0	96.0					19																	55494938		2203	4300	6503	SO:0001819	synonymous_variant	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55494938G>A	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1872G>A	19.37:g.55494938G>A		False	False		Somatic	0				NLRP2_ENST00000391721.4_Silent_p.Q600Q|NLRP2_ENST00000263437.6_Silent_p.Q621Q|NLRP2_ENST00000339757.7_Silent_p.Q602Q|NLRP2_ENST00000537859.1_Silent_p.Q602Q|NLRP2_ENST00000538819.1_Silent_p.Q600Q|NLRP2_ENST00000427260.2_Silent_p.Q601Q|NLRP2_ENST00000448584.2_Silent_p.Q624Q	p.Q624Q	NM_001174081.1	NP_001167552.1	WXS	Illumina HiSeq	Phase_I	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	2015	+			624					B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	37	c.1872G>A	CCDS12913.1																																																																																				0.502	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	0	NM_017852		19:55494938
DLEC1	9940	broad.mit.edu	37	3	38103746	38103746	+	Missense_Mutation	SNP	G	G	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr3:38103746G>T	ENST00000308059.6	+	4	781	c.760G>T	c.(760-762)Gat>Tat	p.D254Y	DLEC1_ENST00000346219.3_Missense_Mutation_p.D254Y|DLEC1_ENST00000452631.2_Missense_Mutation_p.D254Y					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GAAGCTTGAAGATTCATGCAG	0.463																																						ENST00000308059.6		NA																	0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(760-762)Gat>Tat		deleted in lung and esophageal cancer 1							97.0	89.0	92.0					3																	38103746		1973	4173	6146	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38103746G>T	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.760G>T	3.37:g.38103746G>T	ENSP00000308597:p.Asp254Tyr	False	False		Somatic	0				DLEC1_ENST00000452631.2_Missense_Mutation_p.D254Y|DLEC1_ENST00000346219.3_Missense_Mutation_p.D254Y	p.D254Y			WXS	Illumina HiSeq	Phase_I	Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	4	781	+			254						Missense_Mutation	SNP	ENST00000308059.6	37	c.760G>T	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	9.251	1.040773	0.19669	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05319	3.47;3.46;3.7	3.67	1.69	0.24217	.	1.190300	0.06148	N	0.673614	T	0.08537	0.0212	L	0.46157	1.445	0.09310	N	1	B;P;B	0.35714	0.333;0.517;0.333	B;B;B	0.35413	0.187;0.202;0.187	T	0.40739	-0.9547	10	0.62326	D	0.03	-0.079	9.4496	0.38719	0.0:0.4281:0.5719:0.0	.	254;254;254	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	Y	254	ENSP00000308597:D254Y;ENSP00000315914:D254Y;ENSP00000410427:D254Y	ENSP00000308597:D254Y	D	+	1	0	DLEC1	38078750	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.182000	0.16900	0.455000	0.26910	0.655000	0.94253	GAT		0.463	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	0	NM_007337		3:38103746
FUOM	282969	broad.mit.edu	37	10	135170216	135170216	+	Silent	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr10:135170216G>A	ENST00000368552.3	-	4	269	c.252C>T	c.(250-252)agC>agT	p.S84S	FUOM_ENST00000447176.1_Silent_p.S40S|FUOM_ENST00000465384.1_5'UTR|FUOM_ENST00000368551.1_Silent_p.S39S|FUOM_ENST00000278025.4_Silent_p.S84S	NM_001098483.1	NP_001091953.1	A2VDF0	FUCM_HUMAN	fucose mutarotase	84					female mating behavior (GO:0060180)|fucose metabolic process (GO:0006004)|fucosylation (GO:0036065)|negative regulation of neuron differentiation (GO:0045665)		fucose binding (GO:0042806)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)										TCTCCTTGTCGCTGGGCACCA	0.657																																						ENST00000278025.4		NA																	0					NA						c.(250-252)agC>agT		fucose mutarotase							41.0	33.0	36.0					10																	135170216		2194	4293	6487	SO:0001819	synonymous_variant	282969							g.chr10:135170216G>A	AK129527	CCDS7680.1	10q26.3	2012-07-10	2012-07-10	2012-07-10	ENSG00000148803	ENSG00000148803	5.1.3.n2		24733	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 125"""	C10orf125		17602138	Standard	NM_001098483		Approved	FLJ26016, FucU, FucM	uc001lmt.2	A2VDF0	OTTHUMG00000019315	ENST00000368552.3:c.252C>T	10.37:g.135170216G>A		False	False		Somatic	0				FUOM_ENST00000447176.1_Silent_p.S40S|FUOM_ENST00000368551.1_Silent_p.S39S|FUOM_ENST00000465384.1_5'UTR|FUOM_ENST00000368552.3_Silent_p.S84S	p.S84S	NM_198472.2	NP_940874.2	WXS	Illumina HiSeq	Phase_I					4	269	-			NA					A1L300|Q5VWY2|Q5VWY3|Q6ZPD2	Silent	SNP	ENST00000368552.3	37	c.252C>T	CCDS44499.1																																																																																				0.657	FUOM-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	NM_198472		10:135170216
FILIP1L	11259	broad.mit.edu	37	3	99569205	99569205	+	Nonsense_Mutation	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr3:99569205G>A	ENST00000354552.3	-	5	1785	c.1315C>T	c.(1315-1317)Caa>Taa	p.Q439*	FILIP1L_ENST00000471562.1_Nonsense_Mutation_p.Q199*|FILIP1L_ENST00000487087.1_Nonsense_Mutation_p.Q15*|FILIP1L_ENST00000383694.2_Nonsense_Mutation_p.Q199*|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000331335.5_Nonsense_Mutation_p.Q439*|CMSS1_ENST00000421999.2_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	439						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TAGCATTCTTGTTTGCTTTTG	0.358																																						ENST00000331335.5		NA																	0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(1315-1317)Caa>Taa		filamin A interacting protein 1-like							113.0	107.0	109.0					3																	99569205		1834	4073	5907	SO:0001587	stop_gained	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99569205G>A		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.1315C>T	3.37:g.99569205G>A	ENSP00000346560:p.Gln439*	True	False		Somatic	0				CMSS1_ENST00000496116.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000383694.2_Nonsense_Mutation_p.Q199*|FILIP1L_ENST00000354552.3_Nonsense_Mutation_p.Q439*|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000471562.1_Nonsense_Mutation_p.Q199*|FILIP1L_ENST00000487087.1_Nonsense_Mutation_p.Q15*	p.Q439*	NM_001042459.1	NP_001035924.1	WXS	Illumina HiSeq	Phase_I	Q4L180	FIL1L_HUMAN			5	1785	-			439					B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Nonsense_Mutation	SNP	ENST00000354552.3	37	c.1315C>T	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736310	0.89482	.	.	ENSG00000168386	ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	.	.	.	5.55	4.66	0.58398	.	0.000000	0.50627	D	0.000119	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-2.2035	16.0018	0.80297	0.0:0.1518:0.8482:0.0	.	.	.	.	X	439;15;199;439;199;185;199	.	ENSP00000327880:Q439X	Q	-	1	0	FILIP1L	101051895	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.462000	0.66707	1.286000	0.44565	0.655000	0.94253	CAA		0.358	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	0	NM_014890		3:99569205
MLEC	9761	broad.mit.edu	37	12	121134267	121134267	+	Silent	SNP	G	G	A	rs144716658		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr12:121134267G>A	ENST00000228506.3	+	5	1226	c.798G>A	c.(796-798)tcG>tcA	p.S266S	RP11-173P15.3_ENST00000541383.1_RNA|MLEC_ENST00000535413.1_3'UTR|MLEC_ENST00000412616.2_Missense_Mutation_p.R188Q|RP11-173P15.3_ENST00000535720.1_RNA	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	266					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						CCTATGCCTCGGACAACAGCA	0.502																																						ENST00000412616.2		NA																	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						c.(562-564)cGg>cAg		malectin		G		1,4405	2.1+/-5.4	0,1,2202	183.0	171.0	175.0		798	-2.4	1.0	12	dbSNP_134	175	0,8600		0,0,4300	no	coding-synonymous	MLEC	NM_014730.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		266/293	121134267	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9761				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	g.chr12:121134267G>A	BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	613802	"""KIAA0152"""	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.798G>A	12.37:g.121134267G>A		False	False		Somatic	0				MLEC_ENST00000228506.3_Silent_p.S266S|MLEC_ENST00000535413.1_3'UTR	p.R188Q			WXS	Illumina HiSeq	Phase_I	Q14165	MLEC_HUMAN			3	615	+			266						Missense_Mutation	SNP	ENST00000228506.3	37	c.563G>A	CCDS9206.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.572146	0.28092	2.27E-4	0.0	ENSG00000110917	ENST00000412616	.	.	.	5.43	-2.37	0.06643	.	.	.	.	.	T	0.23926	0.0579	.	.	.	0.22156	N	0.999323	.	.	.	.	.	.	T	0.31668	-0.9935	5	0.45353	T	0.12	.	1.5104	0.02494	0.3009:0.0872:0.3554:0.2565	.	.	.	.	Q	188	.	ENSP00000440746:R188Q	R	+	2	0	MLEC	119618650	0.974000	0.33945	0.996000	0.52242	0.982000	0.71751	0.103000	0.15292	-0.107000	0.12088	-1.008000	0.02478	CGG		0.502	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402781.2	0	NM_014730		12:121134267
COL6A6	131873	broad.mit.edu	37	3	130361862	130361862	+	Missense_Mutation	SNP	G	G	A	rs370927133		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr3:130361862G>A	ENST00000358511.6	+	30	5253	c.5222G>A	c.(5221-5223)cGc>cAc	p.R1741H	COL6A6_ENST00000453409.2_Missense_Mutation_p.R1741H	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1741	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GTGCGAGACCGCAGTCGTAAG	0.393																																						ENST00000358511.6		NA																	0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(5221-5223)cGc>cAc		collagen, type VI, alpha 6		G	HIS/ARG	1,3761		0,1,1880	111.0	97.0	101.0		5222	3.3	0.5	3		101	0,8210		0,0,4105	no	missense	COL6A6	NM_001102608.1	29	0,1,5985	AA,AG,GG		0.0,0.0266,0.0084	benign	1741/2264	130361862	1,11971	1881	4105	5986	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130361862G>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.5222G>A	3.37:g.130361862G>A	ENSP00000351310:p.Arg1741His	False	False		Somatic	0				COL6A6_ENST00000453409.2_Missense_Mutation_p.R1741H	p.R1741H	NM_001102608.1	NP_001096078.1	WXS	Illumina HiSeq	Phase_I	A6NMZ7	CO6A6_HUMAN			30	5253	+			1741			Nonhelical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.5222G>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	3.402	-0.122029	0.06795	2.66E-4	0.0	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.88818	-2.42;-2.43	5.67	3.33	0.38152	.	.	.	.	.	T	0.61085	0.2319	N	0.00182	-1.905	0.22253	N	0.999252	B	0.02656	0.0	B	0.01281	0.0	T	0.55755	-0.8091	9	0.12430	T	0.62	.	7.9706	0.30126	0.8354:0.0:0.1646:0.0	.	1741	A6NMZ7	CO6A6_HUMAN	H	1741	ENSP00000351310:R1741H;ENSP00000399236:R1741H	ENSP00000351310:R1741H	R	+	2	0	COL6A6	131844552	1.000000	0.71417	0.542000	0.28115	0.935000	0.57460	3.430000	0.52807	0.445000	0.26639	-0.367000	0.07326	CGC		0.393	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	0	NM_001102608		3:130361862
TULP4	56995	broad.mit.edu	37	6	158922970	158922970	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr6:158922970G>A	ENST00000367097.3	+	13	3632	c.2275G>A	c.(2275-2277)Gga>Aga	p.G759R	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	759					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GGTGATTTTCGGAAGCGTGGA	0.612																																						ENST00000367097.3		NA																	0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(2275-2277)Gga>Aga		tubby like protein 4							196.0	188.0	191.0					6																	158922970		2203	4300	6503	SO:0001583	missense	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158922970G>A		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.2275G>A	6.37:g.158922970G>A	ENSP00000356064:p.Gly759Arg	False	False		Somatic	0				TULP4_ENST00000367094.2_Intron	p.G759R	NM_020245.4	NP_064630.2	WXS	Illumina HiSeq	Phase_I	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	13	3632	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	759					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	c.2275G>A	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270972	0.80469	.	.	ENSG00000130338	ENST00000367097	T	0.61980	0.06	5.64	5.64	0.86602	.	0.395439	0.28327	N	0.015758	T	0.44932	0.1317	L	0.56769	1.78	0.80722	D	1	P	0.45011	0.848	B	0.34722	0.188	T	0.56565	-0.7958	10	0.54805	T	0.06	-15.9636	14.9195	0.70826	0.0707:0.0:0.9293:0.0	.	759	Q9NRJ4	TULP4_HUMAN	R	759	ENSP00000356064:G759R	ENSP00000356064:G759R	G	+	1	0	TULP4	158842958	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	5.865000	0.69583	2.659000	0.90383	0.650000	0.86243	GGA		0.612	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	0	NM_020245		6:158922970
URB2	9816	broad.mit.edu	37	1	229763503	229763503	+	Silent	SNP	A	A	G			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr1:229763503A>G	ENST00000258243.2	+	2	259	c.123A>G	c.(121-123)gaA>gaG	p.E41E	TAF5L_ENST00000477957.1_5'Flank|TAF5L_ENST00000258281.2_5'Flank|TAF5L_ENST00000366675.3_5'Flank|TAF5L_ENST00000366674.1_5'Flank	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	41						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CAAATAAAGAACAAGTAAGTT	0.294																																						ENST00000258243.2		NA																	0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						c.(121-123)gaA>gaG		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							77.0	87.0	84.0					1																	229763503		2203	4300	6503	SO:0001819	synonymous_variant	9816					nucleolus		g.chr1:229763503A>G	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.123A>G	1.37:g.229763503A>G		False	False		Somatic	0					p.E41E	NM_014777.2	NP_055592.2	WXS	Illumina HiSeq	Phase_I	Q14146	URB2_HUMAN			2	259	+			41					Q5VYC9	Silent	SNP	ENST00000258243.2	37	c.123A>G	CCDS31052.1																																																																																				0.294	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	0	NM_014777		1:229763503
COASY	80347	broad.mit.edu	37	17	40714982	40714982	+	Silent	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr17:40714982G>A	ENST00000393818.2	+	1	798	c.342G>A	c.(340-342)gtG>gtA	p.V114V	COASY_ENST00000449624.1_De_novo_Start_InFrame|COASY_ENST00000421097.2_Silent_p.V114V|COASY_ENST00000420359.1_Silent_p.V114V|RP11-400F19.8_ENST00000585572.1_RNA|COASY_ENST00000590958.1_Silent_p.V143V	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	114					cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)|pantetheine-phosphate adenylyltransferase activity (GO:0004595)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CAGAAGTCGTGTTGACAGATT	0.562																																						ENST00000449624.1		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21								CoA synthase							160.0	156.0	157.0					17																	40714982		2203	4300	6503	SO:0001819	synonymous_variant	80347				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity	g.chr17:40714982G>A	AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	"""Coenzyme A synthase"""			11923312, 11980892	Standard	NM_025233		Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.342G>A	17.37:g.40714982G>A		False	False		Somatic	0				COASY_ENST00000421097.2_Silent_p.V114V|COASY_ENST00000393818.2_Silent_p.V114V|COASY_ENST00000420359.1_Silent_p.V114V|COASY_ENST00000590958.1_Silent_p.V143V				WXS	Illumina HiSeq	Phase_I	Q13057	COASY_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	0	178	+		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	NA					B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	Translation_Start_Site	SNP	ENST00000393818.2	37		CCDS11429.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.491978	0.26774	.	.	ENSG00000068120	ENST00000426807	.	.	.	5.57	-0.966	0.10320	.	0.000000	0.85682	D	0.000000	T	0.53126	0.1777	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51220	-0.8733	6	0.87932	D	0	-22.1199	1.666	0.02802	0.1574:0.2286:0.3692:0.2448	.	.	.	.	I	90	.	ENSP00000390306:V90I	V	+	1	0	COASY	37968508	0.995000	0.38212	0.998000	0.56505	0.922000	0.55478	0.457000	0.21875	0.008000	0.14787	-0.305000	0.09177	GTT		0.562	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450409.1	0	NM_025233		17:40714982
DNAH3	55567	broad.mit.edu	37	16	21049118	21049118	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr16:21049118C>T	ENST00000261383.3	-	34	4914	c.4915G>A	c.(4915-4917)Gcc>Acc	p.A1639T	DNAH3_ENST00000415178.1_Missense_Mutation_p.A1639T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1639					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AAGAACTTGGCCAGATTGACA	0.498																																						ENST00000261383.3		NA																	0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(4915-4917)Gcc>Acc		dynein, axonemal, heavy chain 3							143.0	112.0	122.0					16																	21049118		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21049118C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.4915G>A	16.37:g.21049118C>T	ENSP00000261383:p.Ala1639Thr	False	False		Somatic	0				DNAH3_ENST00000415178.1_Missense_Mutation_p.A1639T	p.A1639T	NM_017539.1	NP_060009.1	WXS	Illumina HiSeq	Phase_I	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	34	4914	-			1639					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.4915G>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.773845	0.69992	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.39592	1.07;1.07	5.6	5.6	0.85130	.	0.127782	0.51477	D	0.000088	T	0.69566	0.3125	M	0.89214	3.015	0.80722	D	1	D	0.76494	0.999	P	0.61275	0.886	T	0.75795	-0.3192	10	0.87932	D	0	.	19.6229	0.95667	0.0:1.0:0.0:0.0	.	1639	Q8TD57	DYH3_HUMAN	T	1639	ENSP00000261383:A1639T;ENSP00000394245:A1639T	ENSP00000261383:A1639T	A	-	1	0	DNAH3	20956619	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.920000	0.56446	2.648000	0.89879	0.561000	0.74099	GCC		0.498	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	0	NM_017539		16:21049118
SMAD2	4087	broad.mit.edu	37	18	45368211	45368211	+	Nonsense_Mutation	SNP	G	G	C			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr18:45368211G>C	ENST00000402690.2	-	11	1785	c.1391C>G	c.(1390-1392)tCa>tGa	p.S464*	SMAD2_ENST00000262160.6_Nonsense_Mutation_p.S464*|SMAD2_ENST00000586040.1_Nonsense_Mutation_p.S434*|SMAD2_ENST00000356825.4_Nonsense_Mutation_p.S434*	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	464	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|cell fate commitment (GO:0045165)|common-partner SMAD protein phosphorylation (GO:0007182)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|endoderm formation (GO:0001706)|gastrulation (GO:0007369)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|insulin secretion (GO:0030073)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|mesoderm formation (GO:0001707)|negative regulation of cell proliferation (GO:0008285)|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)|nodal signaling pathway (GO:0038092)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primary miRNA processing (GO:0031053)|regulation of binding (GO:0051098)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to cholesterol (GO:0070723)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	activin responsive factor complex (GO:0032444)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|phosphatase binding (GO:0019902)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)	p.S464*(4)|p.R462fs*>4(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						TGACATGCTTGAGCAACGCAC	0.423																																						ENST00000402690.2		NA																	5	Substitution - Nonsense(4)|Deletion - Frameshift(1)	p.S464*(4)|p.R462fs*>4(1)	large_intestine(4)|kidney(1)	breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						c.(1390-1392)tCa>tGa		SMAD family member 2							162.0	130.0	141.0					18																	45368211		2203	4300	6503	SO:0001587	stop_gained	4087				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	g.chr18:45368211G>C	U65019	CCDS11934.1	18q21	2006-11-06	2006-11-06	2004-05-26	ENSG00000175387	ENSG00000175387		"""SMADs"""	6768	protein-coding gene	gene with protein product		601366	"""MAD, mothers against decapentaplegic homolog 2 (Drosophila)"", ""SMAD, mothers against DPP homolog 2 (Drosophila)"""	MADH2		8752209, 8673135	Standard	NM_001003652		Approved	MADR2, JV18-1	uc002lcz.4	Q15796	OTTHUMG00000132652	ENST00000402690.2:c.1391C>G	18.37:g.45368211G>C	ENSP00000384449:p.Ser464*	False	False		Somatic	0				SMAD2_ENST00000356825.4_Nonsense_Mutation_p.S434*|SMAD2_ENST00000262160.6_Nonsense_Mutation_p.S464*|SMAD2_ENST00000586040.1_Nonsense_Mutation_p.S434*	p.S464*	NM_001003652.3	NP_001003652.1	WXS	Illumina HiSeq	Phase_I	Q15796	SMAD2_HUMAN			11	1785	-			464			MH2.			Nonsense_Mutation	SNP	ENST00000402690.2	37	c.1391C>G	CCDS11934.1	.	.	.	.	.	.	.	.	.	.	G	41	8.723736	0.98929	.	.	ENSG00000175387	ENST00000262160;ENST00000356825;ENST00000402690	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0965	0.97849	0.0:0.0:1.0:0.0	.	.	.	.	X	464;434;464	.	ENSP00000262160:S464X	S	-	2	0	SMAD2	43622209	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.781000	0.99029	2.824000	0.97209	0.655000	0.94253	TCA		0.423	SMAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450571.1	0	NM_005901		18:45368211
BAHD1	22893	broad.mit.edu	37	15	40756141	40756141	+	Missense_Mutation	SNP	C	C	G			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr15:40756141C>G	ENST00000416165.1	+	4	1968	c.1897C>G	c.(1897-1899)Ctt>Gtt	p.L633V	BAHD1_ENST00000561234.1_Missense_Mutation_p.L632V|RP11-64K12.8_ENST00000559730.1_RNA|BAHD1_ENST00000560846.1_Missense_Mutation_p.L633V	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	633	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GGACACCGTCCTTCTCAAATC	0.592																																						ENST00000561234.1		NA																	0				NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28						c.(1894-1896)Ctt>Gtt		bromo adjacent homology domain containing 1							106.0	94.0	98.0					15																	40756141		2203	4300	6503	SO:0001583	missense	22893				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	g.chr15:40756141C>G	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.1897C>G	15.37:g.40756141C>G	ENSP00000396976:p.Leu633Val	False	False		Somatic	0				BAHD1_ENST00000560846.1_Missense_Mutation_p.L633V|BAHD1_ENST00000416165.1_Missense_Mutation_p.L633V	p.L632V			WXS	Illumina HiSeq	Phase_I	Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	4	2153	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	633			BAH.		Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	ENST00000416165.1	37	c.1894C>G	CCDS10058.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.871132	0.91587	.	.	ENSG00000140320	ENST00000416165	D	0.86865	-2.18	5.28	5.28	0.74379	Bromo adjacent homology (BAH) domain (3);	0.068049	0.64402	D	0.000012	D	0.92018	0.7471	L	0.55103	1.725	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.959;0.998;0.997	D	0.90870	0.4745	10	0.41790	T	0.15	-24.8954	19.0957	0.93249	0.0:1.0:0.0:0.0	.	633;633;632	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	V	633	ENSP00000396976:L633V	ENSP00000396976:L633V	L	+	1	0	BAHD1	38543433	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.606000	0.67641	2.755000	0.94549	0.655000	0.94253	CTT		0.592	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	0	NM_014952		15:40756141
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	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>gTt		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>A	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>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	p.G12V	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>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	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
CFHR2	3080	broad.mit.edu	37	1	196918732	196918732	+	Missense_Mutation	SNP	G	G	A	rs144596551		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr1:196918732G>A	ENST00000367415.5	+	2	306	c.206G>A	c.(205-207)cGc>cAc	p.R69H	CFHR2_ENST00000496448.1_Intron|CFHR2_ENST00000476712.2_Missense_Mutation_p.R69H|CFHR2_ENST00000367421.3_Missense_Mutation_p.R69H	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	69	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)		p.R69H(1)		large_intestine(2)|ovary(1)|skin(3)	6						TTTTGGACTCGCATAACGTGC	0.393																																						ENST00000367415.5		NA																	1	Substitution - Missense(1)	p.R69H(1)	ovary(1)	large_intestine(2)|ovary(1)|skin(3)	6						c.(205-207)cGc>cAc		complement factor H-related 2							97.0	87.0	90.0					1																	196918732		2203	4300	6503	SO:0001583	missense	3080					extracellular region		g.chr1:196918732G>A	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367415.5:c.206G>A	1.37:g.196918732G>A	ENSP00000356385:p.Arg69His	False	False		Somatic	0				CFHR2_ENST00000476712.2_Missense_Mutation_p.R69H|CFHR2_ENST00000496448.1_Intron|CFHR2_ENST00000367421.3_Missense_Mutation_p.R69H	p.R69H	NM_005666.2	NP_005657.1	WXS	Illumina HiSeq	Phase_I	P36980	FHR2_HUMAN			2	306	+			NA			Sushi 1.		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367415.5	37	c.206G>A	CCDS30959.1	.	.	.	.	.	.	.	.	.	.	.	11.75	1.733228	0.30684	.	.	ENSG00000080910	ENST00000367421;ENST00000367415	T;T	0.64803	-0.12;-0.12	3.15	-6.29	0.02013	Complement control module (2);Sushi/SCR/CCP (2);	1.243780	0.06385	N	0.715952	T	0.63873	0.2548	L	0.44542	1.39	0.09310	N	1	D	0.89917	1.0	D	0.66847	0.947	T	0.61540	-0.7042	10	0.42905	T	0.14	.	5.3275	0.15915	0.3221:0.4369:0.241:0.0	.	69	P36980	FHR2_HUMAN	H	69	ENSP00000356391:R69H;ENSP00000356385:R69H	ENSP00000356385:R69H	R	+	2	0	CFHR2	195185355	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.088000	0.00610	-1.636000	0.01533	-0.357000	0.07601	CGC		0.393	CFHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088815.2	0	NM_005666		1:196918732
HTR2C	3358	broad.mit.edu	37	X	114082716	114082716	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chrX:114082716C>T	ENST00000276198.1	+	5	1228	c.500C>T	c.(499-501)tCg>tTg	p.S167L	HTR2C_ENST00000371950.3_Intron|HTR2C_ENST00000371951.1_Missense_Mutation_p.S167L	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	167					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.S167L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CGTTTCAATTCGCGGACTAAG	0.408																																						ENST00000276198.1		NA																	1	Substitution - Missense(1)	p.S167L(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(499-501)tCg>tTg		5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)						126.0	106.0	113.0					X																	114082716		2203	4300	6503	SO:0001583	missense	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:114082716C>T		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.500C>T	X.37:g.114082716C>T	ENSP00000276198:p.Ser167Leu	False	False		Somatic	0				HTR2C_ENST00000371951.1_Missense_Mutation_p.S167L|HTR2C_ENST00000371950.3_Intron	p.S167L	NM_000868.2	NP_000859.1	WXS	Illumina HiSeq	Phase_I	P28335	5HT2C_HUMAN			5	1228	+			167					B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	c.500C>T	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.713163	0.89112	.	.	ENSG00000147246	ENST00000276198;ENST00000371951	T;T	0.41400	1.0;1.0	4.27	4.27	0.50696	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.69369	0.3103	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77112	-0.2708	10	0.87932	D	0	.	13.3413	0.60547	0.0:1.0:0.0:0.0	.	167	P28335	5HT2C_HUMAN	L	167	ENSP00000276198:S167L;ENSP00000361019:S167L	ENSP00000276198:S167L	S	+	2	0	HTR2C	113988972	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.686000	0.84128	1.704000	0.51252	0.544000	0.68410	TCG		0.408	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	0	NM_000868		X:114082716
C17orf53	78995	broad.mit.edu	37	17	42225373	42225373	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr17:42225373C>T	ENST00000319977.4	+	3	439	c.202C>T	c.(202-204)Ccc>Tcc	p.P68S	C17orf53_ENST00000245382.6_Missense_Mutation_p.P68S|C17orf53_ENST00000585683.1_Missense_Mutation_p.P68S	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	68										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CCCCACTGCTCCCTCAGAGGC	0.622																																						ENST00000319977.4		NA																	0				NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(202-204)Ccc>Tcc		chromosome 17 open reading frame 53							84.0	71.0	76.0					17																	42225373		2203	4300	6503	SO:0001583	missense	78995							g.chr17:42225373C>T	AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.202C>T	17.37:g.42225373C>T	ENSP00000313500:p.Pro68Ser	True	False		Somatic	0				C17orf53_ENST00000245382.6_Missense_Mutation_p.P68S|C17orf53_ENST00000585683.1_Missense_Mutation_p.P68S	p.P68S	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	WXS	Illumina HiSeq	Phase_I	Q8N3J3	CQ053_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	3	439	+		Breast(137;0.0364)|Prostate(33;0.0376)	68					A8K7A9|Q9BWM9|Q9HAI1	Missense_Mutation	SNP	ENST00000319977.4	37	c.202C>T	CCDS11477.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.604612	0.28623	.	.	ENSG00000125319	ENST00000319977;ENST00000245382;ENST00000253405	T;T	0.49139	0.79;0.79	5.28	2.2	0.27929	.	0.378727	0.22038	N	0.065500	T	0.38558	0.1045	L	0.55481	1.735	0.09310	N	1	B;B;B	0.29646	0.084;0.253;0.084	B;B;B	0.29663	0.022;0.105;0.022	T	0.30297	-0.9983	10	0.51188	T	0.08	-0.8579	6.2724	0.20961	0.0:0.6818:0.1524:0.1659	.	68;68;68	A8K7A9;Q8N3J3-3;Q8N3J3	.;.;CQ053_HUMAN	S	68	ENSP00000313500:P68S;ENSP00000245382:P68S	ENSP00000245382:P68S	P	+	1	0	C17orf53	39580899	0.001000	0.12720	0.001000	0.08648	0.044000	0.14063	0.181000	0.16880	0.362000	0.24319	0.561000	0.74099	CCC		0.622	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457697.1	0	NM_024032		17:42225373
IMPG2	50939	broad.mit.edu	37	3	100951770	100951770	+	Missense_Mutation	SNP	A	A	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr3:100951770A>T	ENST00000193391.7	-	15	3275	c.3088T>A	c.(3088-3090)Tgg>Agg	p.W1030R		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1030	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	TCTCCACTCCAGGGGTTGACC	0.463																																						ENST00000193391.7		NA																	0				NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(3088-3090)Tgg>Agg		interphotoreceptor matrix proteoglycan 2							100.0	98.0	99.0					3																	100951770		2203	4300	6503	SO:0001583	missense	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100951770A>T	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.3088T>A	3.37:g.100951770A>T	ENSP00000193391:p.Trp1030Arg	True	False		Somatic	0					p.W1030R	NM_016247.3	NP_057331.2	WXS	Illumina HiSeq	Phase_I	Q9BZV3	IMPG2_HUMAN			15	3275	-			1030			EGF-like 1.		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	c.3088T>A	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.993749	0.74703	.	.	ENSG00000081148	ENST00000193391	T	0.25085	1.82	5.88	4.66	0.58398	Epidermal growth factor-like, type 3 (1);	0.082660	0.53938	D	0.000052	T	0.44435	0.1293	L	0.55834	1.745	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.98	T	0.38436	-0.9661	10	0.72032	D	0.01	-4.5245	12.8058	0.57612	0.8637:0.1363:0.0:0.0	.	1030;1030	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	R	1030	ENSP00000193391:W1030R	ENSP00000193391:W1030R	W	-	1	0	IMPG2	102434460	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	5.846000	0.69444	2.257000	0.74773	0.459000	0.35465	TGG		0.463	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3	0			3:100951770
ZNF98	148198	broad.mit.edu	37	19	22575373	22575373	+	Missense_Mutation	SNP	C	C	T	rs201074450		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr19:22575373C>T	ENST00000357774.5	-	4	785	c.664G>A	c.(664-666)Gcc>Acc	p.A222T		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	222					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				AGGTTTGAGGCCTCATTATAG	0.383																																						ENST00000357774.5		NA																	0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37						c.(664-666)Gcc>Acc		zinc finger protein 98							12.0	13.0	13.0					19																	22575373		1871	4124	5995	SO:0001583	missense	148198				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22575373C>T		CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"""Zinc fingers, C2H2-type"", ""-"""	13174	protein-coding gene	gene with protein product	"""zinc finger protein 739"""	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.664G>A	19.37:g.22575373C>T	ENSP00000350418:p.Ala222Thr	False	False		Somatic	0					p.A222T	NM_001098626.1	NP_001092096.1	WXS	Illumina HiSeq	Phase_I	A6NK75	ZNF98_HUMAN			4	785	-		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)	222						Missense_Mutation	SNP	ENST00000357774.5	37	c.664G>A	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	4.784	0.145770	0.09134	.	.	ENSG00000197360	ENST00000357774	T	0.33654	1.4	1.28	-1.83	0.07833	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18002	0.0432	N	0.17674	0.51	0.09310	N	1	B	0.22541	0.071	B	0.25987	0.065	T	0.27262	-1.0079	9	0.39692	T	0.17	.	0.0814	0.00032	0.2369:0.2268:0.2367:0.2996	.	222	A6NK75	ZNF98_HUMAN	T	222	ENSP00000350418:A222T	ENSP00000350418:A222T	A	-	1	0	ZNF98	22367213	0.000000	0.05858	0.001000	0.08648	0.138000	0.21146	-0.793000	0.04589	-0.223000	0.09943	0.305000	0.20034	GCC		0.383	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	0	NM_001098626		19:22575373
LINGO1	84894	broad.mit.edu	37	15	77906745	77906745	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr15:77906745C>T	ENST00000355300.6	-	2	1678	c.1504G>A	c.(1504-1506)Gcg>Acg	p.A502T	LINGO1_ENST00000561030.1_Missense_Mutation_p.A496T	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	502	Ig-like C2-type.				central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						TTGCCGCCCGCGTTGGCCGCG	0.637																																						ENST00000355300.6		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1504-1506)Gcg>Acg		leucine rich repeat and Ig domain containing 1							40.0	44.0	43.0					15																	77906745		2132	4216	6348	SO:0001583	missense	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77906745C>T	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.1504G>A	15.37:g.77906745C>T	ENSP00000347451:p.Ala502Thr	True	False		Somatic	0				LINGO1_ENST00000561030.1_Missense_Mutation_p.A496T	p.A502T	NM_032808.5	NP_116197.4	WXS	Illumina HiSeq	Phase_I	Q96FE5	LIGO1_HUMAN			2	1678	-			502			Ig-like C2-type.		D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	ENST00000355300.6	37	c.1504G>A	CCDS45313.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222208	0.79464	.	.	ENSG00000169783	ENST00000355300	T	0.67171	-0.25	5.08	5.08	0.68730	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74230	0.3689	L	0.55743	1.74	0.80722	D	1	D	0.63046	0.992	P	0.57679	0.825	T	0.70303	-0.4909	10	0.22706	T	0.39	.	18.482	0.90815	0.0:1.0:0.0:0.0	.	502	Q96FE5	LIGO1_HUMAN	T	502	ENSP00000347451:A502T	ENSP00000347451:A502T	A	-	1	0	LINGO1	75693800	1.000000	0.71417	0.996000	0.52242	0.770000	0.43624	7.818000	0.86416	2.359000	0.80004	0.462000	0.41574	GCG		0.637	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	0	NM_032808		15:77906745
TRAF2	7186	broad.mit.edu	37	9	139795034	139795034	+	Intron	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr9:139795034C>T	ENST00000247668.2	+	4	418				TRAF2_ENST00000359662.3_Missense_Mutation_p.S143F|TRAF2_ENST00000536468.1_Intron	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein complex assembly (GO:0043623)|cellular response to nitric oxide (GO:0071732)|innate immune response (GO:0045087)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron death (GO:1901215)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|programmed necrotic cell death (GO:0097300)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein complex assembly (GO:0006461)|protein heterooligomerization (GO:0051291)|protein homotrimerization (GO:0070207)|protein K63-linked ubiquitination (GO:0070534)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of immunoglobulin secretion (GO:0051023)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|membrane raft (GO:0045121)|ubiquitin ligase complex (GO:0000151)	CD40 receptor binding (GO:0005174)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein phosphatase binding (GO:0019903)|signal transducer activity (GO:0004871)|sphingolipid binding (GO:0046625)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		CGTCCACGCTCCCCAAGCAGT	0.557																																						ENST00000359662.3		NA																	0				breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(427-429)tCc>tTc		TNF receptor-associated factor 2																																				SO:0001627	intron_variant	7186				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:139795034C>T	U12597	CCDS7013.1	9q34	2013-01-09			ENSG00000127191	ENSG00000127191		"""RING-type (C3HC4) zinc fingers"""	12032	protein-coding gene	gene with protein product		601895				7639698	Standard	NM_021138		Approved	TRAP3	uc004cjv.3	Q12933	OTTHUMG00000020952	ENST00000247668.2:c.366+62C>T	9.37:g.139795034C>T		True	False		Somatic	0				TRAF2_ENST00000247668.2_Intron|TRAF2_ENST00000536468.1_Intron	p.S143F			WXS	Illumina HiSeq	Phase_I	Q12933	TRAF2_HUMAN	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)	4	473	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	125					A8K107|B4DPJ7|Q7Z337|Q96NT2	Missense_Mutation	SNP	ENST00000247668.2	37	c.428C>T	CCDS7013.1	.	.	.	.	.	.	.	.	.	.	C	6.672	0.492520	0.12702	.	.	ENSG00000127191	ENST00000359662;ENST00000371645	T	0.36878	1.23	2.7	-4.51	0.03483	.	.	.	.	.	T	0.17066	0.0410	.	.	.	0.09310	N	1	B	0.15141	0.012	B	0.14023	0.01	T	0.23762	-1.0179	7	.	.	.	.	4.4005	0.11385	0.2842:0.1795:0.0:0.5363	.	143	Q12933-2	.	F	143	ENSP00000352685:S143F	.	S	+	2	0	TRAF2	138914855	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.233000	0.02934	-1.295000	0.02357	-0.266000	0.10368	TCC		0.557	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055166.1	0	NM_021138		9:139795034
SLC16A13	201232	broad.mit.edu	37	17	6941599	6941599	+	Missense_Mutation	SNP	T	T	C			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr17:6941599T>C	ENST00000308027.6	+	3	780	c.472T>C	c.(472-474)Ttt>Ctt	p.F158L		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	158						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.F158L(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						ATTTGCCCCCTTTTTCCAGTG	0.652																																						ENST00000308027.6		NA																	1	Substitution - Missense(1)	p.F158L(1)	lung(1)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						c.(472-474)Ttt>Ctt		solute carrier family 16, member 13							62.0	66.0	64.0					17																	6941599		2203	4300	6503	SO:0001583	missense	201232					integral to membrane|plasma membrane	symporter activity	g.chr17:6941599T>C	BN000145	CCDS11085.1	17p13.1	2013-07-18	2013-07-18		ENSG00000174327	ENSG00000174327		"""Solute carriers"""	31037	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 13"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 13"""				Standard	NM_201566		Approved	MCT13	uc002geh.3	Q7RTY0	OTTHUMG00000102089	ENST00000308027.6:c.472T>C	17.37:g.6941599T>C	ENSP00000309751:p.Phe158Leu	True	False		Somatic	0					p.F158L	NM_201566.2	NP_963860.1	WXS	Illumina HiSeq	Phase_I	Q7RTY0	MOT13_HUMAN			3	780	+			158					A3KMG3|A5PKU5|Q2VP92	Missense_Mutation	SNP	ENST00000308027.6	37	c.472T>C	CCDS11085.1	.	.	.	.	.	.	.	.	.	.	T	4.647	0.120233	0.08881	.	.	ENSG00000174327	ENST00000308027	T	0.48522	0.81	5.54	-1.46	0.08800	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.192516	0.46442	N	0.000288	T	0.13713	0.0332	N	0.01202	-0.96	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.38001	-0.9681	10	0.02654	T	1	.	10.4076	0.44274	0.0:0.5248:0.0:0.4752	.	158	Q7RTY0	MOT13_HUMAN	L	158	ENSP00000309751:F158L	ENSP00000309751:F158L	F	+	1	0	SLC16A13	6882323	0.479000	0.25925	0.535000	0.28026	0.981000	0.71138	1.161000	0.31773	-0.053000	0.13289	-0.313000	0.08912	TTT		0.652	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219923.2	0			17:6941599
RNF43	54894	broad.mit.edu	37	17	56440904	56440904	+	Nonsense_Mutation	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr17:56440904G>A	ENST00000584437.1	-	3	2388	c.433C>T	c.(433-435)Cga>Tga	p.R145*	RNF43_ENST00000407977.2_Nonsense_Mutation_p.R145*|RNF43_ENST00000581868.1_Nonsense_Mutation_p.R18*|RNF43_ENST00000577716.1_Nonsense_Mutation_p.R145*|RNF43_ENST00000577625.1_Nonsense_Mutation_p.R18*|RNF43_ENST00000583753.1_Nonsense_Mutation_p.R104*|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000500597.2_Nonsense_Mutation_p.R104*			Q68DV7	RNF43_HUMAN	ring finger protein 43	145					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R145*(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCAGCAGCTCGATCCTCAGTG	0.597																																						ENST00000584437.1		NA																	1	Substitution - Nonsense(1)	p.R145*(1)	pancreas(1)	NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(433-435)Cga>Tga		ring finger protein 43							127.0	122.0	123.0					17																	56440904		2203	4300	6503	SO:0001587	stop_gained	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56440904G>A		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.433C>T	17.37:g.56440904G>A	ENSP00000463069:p.Arg145*	False	False		Somatic	0				BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Nonsense_Mutation_p.R18*|RNF43_ENST00000500597.2_Nonsense_Mutation_p.R104*|RNF43_ENST00000407977.2_Nonsense_Mutation_p.R145*|RNF43_ENST00000577625.1_Nonsense_Mutation_p.R18*|RNF43_ENST00000583753.1_Nonsense_Mutation_p.R104*|RNF43_ENST00000577716.1_Nonsense_Mutation_p.R145*	p.R145*			WXS	Illumina HiSeq	Phase_I	Q68DV7	RNF43_HUMAN			3	2388	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		145					A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Nonsense_Mutation	SNP	ENST00000584437.1	37	c.433C>T	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	G	44	10.601706	0.99435	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	.	.	.	5.4	4.41	0.53225	.	0.592346	0.16161	N	0.226756	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-19.4207	8.5535	0.33467	0.0:0.1579:0.5559:0.2861	.	.	.	.	X	145;104	.	ENSP00000385328:R145X	R	-	1	2	RNF43	53795903	0.980000	0.34600	0.994000	0.49952	0.991000	0.79684	2.127000	0.42035	1.234000	0.43709	0.591000	0.81541	CGA		0.597	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	0	NM_017763		17:56440904
RSPH6A	81492	broad.mit.edu	37	19	46307696	46307696	+	Silent	SNP	C	C	T	rs146411467		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr19:46307696C>T	ENST00000221538.3	-	3	1609	c.1467G>A	c.(1465-1467)tcG>tcA	p.S489S	RSPH6A_ENST00000597055.1_Silent_p.S489S|RSPH6A_ENST00000600188.1_Silent_p.S225S	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	489						intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GCGTGGCGGCCGAGATGCGGG	0.642																																						ENST00000221538.3		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						c.(1465-1467)tcG>tcA		radial spoke head 6 homolog A (Chlamydomonas)		C		0,4406		0,0,2203	45.0	45.0	45.0		1467	-1.7	1.0	19	dbSNP_134	45	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	RSPH6A	NM_030785.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		489/718	46307696	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	81492					intracellular		g.chr19:46307696C>T	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.1467G>A	19.37:g.46307696C>T		False	False		Somatic	0				RSPH6A_ENST00000597055.1_Silent_p.S489S|RSPH6A_ENST00000600188.1_Silent_p.S225S	p.S489S	NM_030785.3	NP_110412.1	WXS	Illumina HiSeq	Phase_I	Q9H0K4	RSH6A_HUMAN			3	1609	-			489					Q53FE2|Q6PEZ9	Silent	SNP	ENST00000221538.3	37	c.1467G>A	CCDS12675.1																																																																																				0.642	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1	0			19:46307696
CACNA1B	774	broad.mit.edu	37	9	141014657	141014657	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr9:141014657C>T	ENST00000371372.1	+	45	6216	c.6071C>T	c.(6070-6072)aCg>aTg	p.T2024M	CACNA1B_ENST00000371357.1_Missense_Mutation_p.T2023M|CACNA1B_ENST00000277551.2_Missense_Mutation_p.T2024M|CACNA1B_ENST00000277549.5_Missense_Mutation_p.T1218M|CACNA1B_ENST00000371355.4_Missense_Mutation_p.T2025M|CACNA1B_ENST00000371363.1_Missense_Mutation_p.T2022M	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2024					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCATCTCCACGCTGGCCCAG	0.687																																						ENST00000277549.5		NA																	0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(3652-3654)aCg>aTg		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						38.0	61.0	53.0					9																	141014657		2170	4264	6434	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:141014657C>T	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.6071C>T	9.37:g.141014657C>T	ENSP00000360423:p.Thr2024Met	False	False		Somatic	0				CACNA1B_ENST00000371357.1_Missense_Mutation_p.T2023M|CACNA1B_ENST00000371355.4_Missense_Mutation_p.T2025M|CACNA1B_ENST00000277551.2_Missense_Mutation_p.T2024M|CACNA1B_ENST00000371372.1_Missense_Mutation_p.T2024M|CACNA1B_ENST00000371363.1_Missense_Mutation_p.T2022M	p.T1218M			WXS	Illumina HiSeq	Phase_I	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	45	6222	+	all_cancers(76;0.166)		2024					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.3653C>T	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339170	0.81911	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	T;T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99;-0.99	4.78	4.78	0.61160	.	0.330500	0.29767	N	0.011255	T	0.73961	0.3654	L	0.49126	1.545	0.80722	D	1	P;P	0.48162	0.906;0.906	P;P	0.45276	0.475;0.475	T	0.77411	-0.2598	10	0.52906	T	0.07	.	17.8144	0.88627	0.0:1.0:0.0:0.0	.	2023;2022	B1AQK7;B1AQK6	.;.	M	2024;2024;1218;2022;2023;2025	ENSP00000360423:T2024M;ENSP00000277551:T2024M;ENSP00000277549:T1218M;ENSP00000360414:T2022M;ENSP00000360408:T2023M;ENSP00000360406:T2025M	ENSP00000277549:T1218M	T	+	2	0	CACNA1B	140134478	0.997000	0.39634	0.976000	0.42696	0.747000	0.42532	3.527000	0.53517	2.210000	0.71456	0.491000	0.48974	ACG		0.687	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	0	NM_000718		9:141014657
ZC3H11A	9877	broad.mit.edu	37	1	203821424	203821424	+	Missense_Mutation	SNP	T	T	C			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr1:203821424T>C	ENST00000545588.1	+	17	6157	c.2330T>C	c.(2329-2331)aTa>aCa	p.I777T	ZC3H11A_ENST00000367212.3_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.I777T|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.I777T	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	777					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAGAAACTAATATGGGAGATT	0.473																																						ENST00000545588.1		NA																	0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(2329-2331)aTa>aCa		zinc finger CCCH-type containing 11A							55.0	56.0	56.0					1																	203821424		2203	4300	6503	SO:0001583	missense	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203821424T>C		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.2330T>C	1.37:g.203821424T>C	ENSP00000438527:p.Ile777Thr	False	False		Somatic	0				ZC3H11A_ENST00000332127.4_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.I777T	p.I777T	NM_001271675.1	NP_001258604.1	WXS	Illumina HiSeq	Phase_I	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		17	6157	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		777					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	ENST00000545588.1	37	c.2330T>C	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	T	11.48	1.650267	0.29336	.	.	ENSG00000058673	ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.61540	0.2355	M	0.77103	2.36	0.50467	D	0.999873	B	0.18461	0.028	B	0.24269	0.052	T	0.60454	-0.7260	10	0.46703	T	0.11	-25.6355	14.9374	0.70967	0.0:0.0:0.0:1.0	.	777	O75152	ZC11A_HUMAN	T	777;723;777;777;777;777	ENSP00000356183:I777T;ENSP00000356181:I777T;ENSP00000333253:I777T;ENSP00000438527:I777T;ENSP00000356179:I777T	ENSP00000333253:I777T	I	+	2	0	ZC3H11A	202088047	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	6.379000	0.73154	2.171000	0.68590	0.528000	0.53228	ATA		0.473	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	0	NM_014827		1:203821424
ZC3H11A	9877	broad.mit.edu	37	1	203821496	203821496	+	Missense_Mutation	SNP	T	T	C			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr1:203821496T>C	ENST00000545588.1	+	17	6229	c.2402T>C	c.(2401-2403)cTg>cCg	p.L801P	ZC3H11A_ENST00000367212.3_Missense_Mutation_p.L801P|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.L801P|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.L801P|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.L801P	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	801					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.L801P(3)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GATGACCTTCTGCTTGAGCTA	0.388																																						ENST00000545588.1		NA																	3	Substitution - Missense(3)	p.L801P(3)	lung(2)|endometrium(1)	central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(2401-2403)cTg>cCg		zinc finger CCCH-type containing 11A							58.0	57.0	58.0					1																	203821496		2203	4300	6503	SO:0001583	missense	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203821496T>C		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.2402T>C	1.37:g.203821496T>C	ENSP00000438527:p.Leu801Pro	False	False		Somatic	0				ZC3H11A_ENST00000332127.4_Missense_Mutation_p.L801P|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.L801P|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.L801P|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.L801P	p.L801P	NM_001271675.1	NP_001258604.1	WXS	Illumina HiSeq	Phase_I	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		17	6229	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		801					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	ENST00000545588.1	37	c.2402T>C	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	T	14.31	2.497945	0.44455	.	.	ENSG00000058673	ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8	5.9	3.44	0.39384	.	0.000000	0.64402	D	0.000002	T	0.81029	0.4738	M	0.77103	2.36	0.80722	D	1	D	0.57257	0.979	P	0.58454	0.839	T	0.79992	-0.1569	10	0.46703	T	0.11	0.4071	8.3189	0.32117	0.1313:0.0:0.1373:0.7314	.	801	O75152	ZC11A_HUMAN	P	801;747;801;801;801;801	ENSP00000356183:L801P;ENSP00000356181:L801P;ENSP00000333253:L801P;ENSP00000438527:L801P;ENSP00000356179:L801P	ENSP00000333253:L801P	L	+	2	0	ZC3H11A	202088119	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.206000	0.72154	1.042000	0.40150	-0.321000	0.08615	CTG		0.388	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	0	NM_014827		1:203821496
DEFB135	613209	broad.mit.edu	37	8	11841997	11841997	+	Silent	SNP	C	C	T			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr8:11841997C>T	ENST00000382208.2	+	2	132	c.132C>T	c.(130-132)tgC>tgT	p.C44C		NM_001033017.2	NP_001028189.2	Q30KP9	DB135_HUMAN	defensin, beta 135	44					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|prostate(1)	4						AAGGTACTTGCCGGCCAAAAT	0.373																																						ENST00000382208.2		NA																	0				endometrium(1)|large_intestine(2)|prostate(1)	4						c.(130-132)tgC>tgT		defensin, beta 135							101.0	99.0	99.0					8																	11841997		1879	4107	5986	SO:0001819	synonymous_variant	613209				defense response to bacterium	extracellular region		g.chr8:11841997C>T	DQ012025	CCDS43710.1	8p23.1	2009-05-27			ENSG00000205883	ENSG00000205883		"""Defensins, beta"""	32400	protein-coding gene	gene with protein product						16033865	Standard	NM_001033017		Approved		uc003wuw.1	Q30KP9	OTTHUMG00000158719	ENST00000382208.2:c.132C>T	8.37:g.11841997C>T		False	False		Somatic	0					p.C44C	NM_001033017.2	NP_001028189.2	WXS	Illumina HiSeq	Phase_I	Q30KP9	DB135_HUMAN			2	132	+			44					Q4QY37	Silent	SNP	ENST00000382208.2	37	c.132C>T	CCDS43710.1																																																																																				0.373	DEFB135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351888.1	0	NM_001033017		8:11841997
CPNE2	221184	broad.mit.edu	37	16	57153169	57153169	+	Nonsense_Mutation	SNP	G	G	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr16:57153169G>A	ENST00000535318.2	+	7	931	c.570G>A	c.(568-570)tgG>tgA	p.W190*	CPNE2_ENST00000537605.1_Nonsense_Mutation_p.W88*|CPNE2_ENST00000290776.8_Nonsense_Mutation_p.W190*|CPNE2_ENST00000565874.1_Nonsense_Mutation_p.W190*			Q96FN4	CPNE2_HUMAN	copine II	190	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				ATGGCAAGTGGATGCTGGTCC	0.582																																						ENST00000535318.2		NA																	0				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21						c.(568-570)tgG>tgA		copine II							103.0	93.0	97.0					16																	57153169		2198	4300	6498	SO:0001587	stop_gained	221184							g.chr16:57153169G>A		CCDS10774.1	16q13	2008-02-05			ENSG00000140848	ENSG00000140848			2315	protein-coding gene	gene with protein product		604206				9430674	Standard	NM_152727		Approved	CPN2	uc002eks.2	Q96FN4	OTTHUMG00000133471	ENST00000535318.2:c.570G>A	16.37:g.57153169G>A	ENSP00000439018:p.Trp190*	False	False		Somatic	0				CPNE2_ENST00000537605.1_Nonsense_Mutation_p.W88*|CPNE2_ENST00000565874.1_Nonsense_Mutation_p.W190*|CPNE2_ENST00000290776.8_Nonsense_Mutation_p.W190*	p.W190*			WXS	Illumina HiSeq	Phase_I	Q96FN4	CPNE2_HUMAN			7	931	+		all_neural(199;0.224)	190			C2 2.		Q68D19|Q719H8|Q86XP9	Nonsense_Mutation	SNP	ENST00000535318.2	37	c.570G>A	CCDS10774.1	.	.	.	.	.	.	.	.	.	.	G	43	10.004895	0.99315	.	.	ENSG00000140848	ENST00000290776;ENST00000537605;ENST00000535318	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.2675	19.397	0.94611	0.0:0.0:1.0:0.0	.	.	.	.	X	190;88;190	.	ENSP00000290776:W190X	W	+	3	0	CPNE2	55710670	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.845000	0.99498	2.594000	0.87642	0.555000	0.69702	TGG		0.582	CPNE2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432986.2	0	NM_152727		16:57153169
XPO5	57510	broad.mit.edu	37	6	43491668	43491668	+	Missense_Mutation	SNP	T	T	C			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr6:43491668T>C	ENST00000265351.7	-	32	3763	c.3553A>G	c.(3553-3555)Atg>Gtg	p.M1185V	POLR1C_ENST00000304004.3_Intron	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	1185					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			GTCTCCAGCATTGGCTTTGTT	0.463																																						ENST00000265351.7		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(3553-3555)Atg>Gtg		exportin 5							94.0	94.0	94.0					6																	43491668		1896	4111	6007	SO:0001583	missense	57510				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding	g.chr6:43491668T>C	AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.3553A>G	6.37:g.43491668T>C	ENSP00000265351:p.Met1185Val	False	False		Somatic	0				POLR1C_ENST00000304004.3_Intron	p.M1185V	NM_020750.2	NP_065801.1	WXS	Illumina HiSeq	Phase_I	Q9HAV4	XPO5_HUMAN	all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)		32	3763	-	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		1185					Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP	ENST00000265351.7	37	c.3553A>G	CCDS47430.1	.	.	.	.	.	.	.	.	.	.	T	2.456	-0.325143	0.05350	.	.	ENSG00000124571	ENST00000265351;ENST00000439465	T	0.27256	1.68	6.05	-7.28	0.01456	.	0.722313	0.14370	N	0.323863	T	0.02156	0.0067	N	0.04203	-0.255	0.09310	N	0.999993	B	0.02656	0.0	B	0.01281	0.0	T	0.41520	-0.9504	10	0.25106	T	0.35	-0.074	5.3159	0.15854	0.1366:0.4805:0.0853:0.2977	.	1185	Q9HAV4	XPO5_HUMAN	V	1185;813	ENSP00000265351:M1185V	ENSP00000265351:M1185V	M	-	1	0	XPO5	43599646	0.347000	0.24853	0.870000	0.34147	0.979000	0.70002	-0.064000	0.11636	-0.740000	0.04803	-0.280000	0.10049	ATG		0.463	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	0	NM_020750		6:43491668
BACH1	571	broad.mit.edu	37	21	30693720	30693720	+	Missense_Mutation	SNP	T	T	C			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr21:30693720T>C	ENST00000399921.1	+	2	362	c.119T>C	c.(118-120)gTg>gCg	p.V40A	BACH1_ENST00000286800.3_Missense_Mutation_p.V40A	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						ACCATCTTTGTGGAGGGACAG	0.517																																						ENST00000399921.1		NA																	0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						c.(118-120)gTg>gCg		BTB and CNC homology 1, basic leucine zipper transcription factor 1							150.0	122.0	132.0					21																	30693720		2203	4300	6503	SO:0001583	missense	571					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr21:30693720T>C	AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.119T>C	21.37:g.30693720T>C	ENSP00000382805:p.Val40Ala	False	False		Somatic	0				BACH1_ENST00000286800.3_Missense_Mutation_p.V40A	p.V40A	NM_206866.1	NP_996749.1	WXS	Illumina HiSeq	Phase_I	O14867	BACH1_HUMAN			2	362	+			40			BTB.		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000399921.1	37	c.119T>C	CCDS13585.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.270251	0.80469	.	.	ENSG00000156273	ENST00000286800;ENST00000399921;ENST00000451655;ENST00000447177;ENST00000435072	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	5.4	5.4	0.78164	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	D	0.000003	T	0.49830	0.1580	L	0.50993	1.605	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.41413	-0.9510	9	.	.	.	-19.2783	15.7695	0.78157	0.0:0.0:0.0:1.0	.	40	O14867	BACH1_HUMAN	A	40	ENSP00000286800:V40A;ENSP00000382805:V40A;ENSP00000400576:V40A;ENSP00000408605:V40A;ENSP00000392202:V40A	.	V	+	2	0	BACH1	29615591	1.000000	0.71417	0.996000	0.52242	0.569000	0.35902	5.701000	0.68325	2.183000	0.69458	0.451000	0.29950	GTG		0.517	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171974.1	0	NM_206866		21:30693720
CHMP1A	5119	broad.mit.edu	37	16	89718035	89718035	+	Missense_Mutation	SNP	T	T	C			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr16:89718035T>C	ENST00000397901.3	-	3	303	c.47A>G	c.(46-48)gAg>gGg	p.E16G	CHMP1A_ENST00000253475.5_Silent_p.G9G|CHMP1A_ENST00000547614.1_5'UTR|CHMP1A_ENST00000535997.2_5'UTR|CHMP1A_ENST00000550102.1_Missense_Mutation_p.E16G	NM_002768.3	NP_002759.2	Q9HD42	CHM1A_HUMAN	charged multivesicular body protein 1A	16					cytokinesis (GO:0000910)|gene silencing (GO:0016458)|mitotic chromosome condensation (GO:0007076)|negative regulation of transcription by glucose (GO:0045014)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|proteolysis (GO:0006508)|transcription, DNA-templated (GO:0006351)|vesicle-mediated transport (GO:0016192)	condensed nuclear chromosome (GO:0000794)|early endosome (GO:0005769)|endomembrane system (GO:0012505)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|nuclear matrix (GO:0016363)	metallopeptidase activity (GO:0008237)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		GGCCAGCTTCTCCAGCTGCTT	0.632																																						ENST00000397901.3		NA																	0				endometrium(1)|large_intestine(1)|ovary(1)	3						c.(46-48)gAg>gGg		charged multivesicular body protein 1A							62.0	69.0	67.0					16																	89718035		2024	4179	6203	SO:0001583	missense	5119				cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport	condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix	metallopeptidase activity|protein domain specific binding|zinc ion binding	g.chr16:89718035T>C	U58048	CCDS45552.1	16q24.3	2011-09-21	2011-09-21	2007-03-20	ENSG00000131165	ENSG00000131165		"""Charged multivesicular body proteins"""	8740	protein-coding gene	gene with protein product		164010	"""procollagen (type III) N-endopeptidase"", ""chromatin modifying protein 1A"""	PRSM1, PCOLN3		11559748, 11559747	Standard	NM_002768		Approved	KIAA0047, CHMP1, Vps46A	uc002fnu.4	Q9HD42	OTTHUMG00000169521	ENST00000397901.3:c.47A>G	16.37:g.89718035T>C	ENSP00000380998:p.Glu16Gly	False	False		Somatic	0				CHMP1A_ENST00000550102.1_Missense_Mutation_p.E16G|CHMP1A_ENST00000535997.2_5'UTR|CHMP1A_ENST00000547614.1_5'UTR|CHMP1A_ENST00000253475.5_Silent_p.G9G	p.E16G	NM_002768.3	NP_002759.2	WXS	Illumina HiSeq	Phase_I	Q9HD42	CHM1A_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.048)	3	303	-		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	16					A2RU09|Q14468|Q15779|Q96G31	Missense_Mutation	SNP	ENST00000397901.3	37	c.47A>G	CCDS45552.1	.	.	.	.	.	.	.	.	.	.	T	18.38	3.611348	0.66558	.	.	ENSG00000131165	ENST00000397901;ENST00000550102	T;T	0.74106	-0.81;-0.81	4.81	4.81	0.61882	.	.	.	.	.	T	0.70202	0.3197	.	.	.	0.80722	D	1	P	0.38300	0.626	B	0.40782	0.34	T	0.69101	-0.5234	7	.	.	.	-1.7391	14.6528	0.68811	0.0:0.0:0.0:1.0	.	16	Q9HD42	CHM1A_HUMAN	G	16	ENSP00000380998:E16G;ENSP00000449243:E16G	.	E	-	2	0	CHMP1A	88245536	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.600000	0.82769	1.905000	0.55150	0.533000	0.62120	GAG		0.632	CHMP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404581.1	0	NM_002768		16:89718035
IGSF22	283284	broad.mit.edu	37	11	18738405	18738405	+	Missense_Mutation	SNP	C	C	A			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr11:18738405C>A	ENST00000513874.1	-	10	1255	c.1116G>T	c.(1114-1116)aaG>aaT	p.K372N	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	372										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TGATTTCATACTTGTCATCCC	0.527																																						ENST00000513874.1		NA																	0				NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						c.(1114-1116)aaG>aaT		immunoglobulin superfamily, member 22							255.0	252.0	253.0					11																	18738405		2078	4192	6270	SO:0001583	missense	283284							g.chr11:18738405C>A	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1116G>T	11.37:g.18738405C>A	ENSP00000421191:p.Lys372Asn	False	False		Somatic	0				RP11-1081L13.4_ENST00000527285.1_RNA	p.K372N	NM_173588.3	NP_775859	WXS	Illumina HiSeq	Phase_I	Q8N9C0	IGS22_HUMAN			10	1255	-			372					A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	c.1116G>T	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783844	0.70222	.	.	ENSG00000179057	ENST00000513874	T	0.44083	0.93	4.94	-0.225	0.13111	.	0.000000	0.37857	U	0.001902	T	0.39091	0.1065	M	0.73319	2.225	0.27060	N	0.96358	P	0.40578	0.722	B	0.39738	0.308	T	0.34650	-0.9820	10	0.45353	T	0.12	.	9.8716	0.41177	0.0:0.6398:0.0:0.3602	.	372	D6RGV7	.	N	372	ENSP00000421191:K372N	ENSP00000322422:K372N	K	-	3	2	IGSF22	18694981	0.334000	0.24739	0.728000	0.30774	0.997000	0.91878	-0.495000	0.06443	0.050000	0.15949	0.655000	0.94253	AAG		0.527	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	0	NM_173588		11:18738405
