#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
RBM4	5936	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000409406.1	+	2	1633_1653	c.856_876delGCTGCTGCTGCAGCAGCAGCC	c.(856-876)gctgctgctgcagcagcagccdel	p.AAAAAAA286del	RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000412278.2_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000500635.2_Intron			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	286	Interaction with TNPO3.|Poly-Ala.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615																																						ENST00000412278.2		NA																	0					NA						c.(781-801)gctgctgctgcagcagcagccdel																																						SO:0001651	inframe_deletion	0							g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.856_876delGCTGCTGCTGCAGCAGCAGCC	11.37:g.66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENSP00000386894:p.Ala286_Ala292del	True	False		Somatic	1				RBM4_ENST00000398692.4_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000530235.1_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000578778.1_Intron	p.AAAAAAA261del	NM_001198845.1	NP_001185774.1	WXS	Illumina HiSeq	Phase_I					2	876_896	+			NA					B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	In_Frame_Del	DEL	ENST00000409406.1	37	c.781_801delGCTGCTGCTGCAGCAGCAGCC	CCDS41676.1																																																																																				0.615	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	0	NM_002896		11:66411364
LCE2A	353139	broad.mit.edu	37	1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	rs188756601|rs61812671|rs544324398|rs142857579|rs61812672|rs200927371|rs369853646|rs575236034	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization (GO:0031424)			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661																																						ENST00000368779.1		NA																	3	Deletion - In frame(2)|Substitution - coding silent(1)	p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)	liver(2)|large_intestine(1)	breast(1)|large_intestine(1)|liver(2)|lung(4)	8						c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc		late cornified envelope 2A																																				SO:0001651	inframe_deletion	353139				keratinization			g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG		CCDS1021.1	1q21.3	2008-02-05			ENSG00000187173	ENSG00000187173		"""Late cornified envelopes"""	29469	protein-coding gene	gene with protein product		612609				11698679	Standard	NM_178428		Approved	LEP9	uc001faj.3	Q5TA79	OTTHUMG00000012392	ENST00000368779.1:c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	1.37:g.152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENSP00000357768:p.Ser47_Cys60del	False	False		Somatic	1					p.SSGGCCGSSSGGCC47del	NM_178428.3	NP_848515.1	WXS	Illumina HiSeq	Phase_I	Q5TA79	LCE2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	189_230	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		47			Cys-rich.		A4QMZ9	In_Frame_Del	DEL	ENST00000368779.1	37	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CCDS1021.1																																																																																				0.661	LCE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034512.1	0	NM_178428		1:152671515
ZC3H7A	29066	broad.mit.edu	37	16	11855848	11855848	+	Frame_Shift_Del	DEL	C	C	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:11855848delC	ENST00000396516.2	-	17	2328	c.2131delG	c.(2131-2133)gtgfs	p.V711fs	ZC3H7A_ENST00000575984.1_5'Flank|ZC3H7A_ENST00000355758.4_Frame_Shift_Del_p.V711fs			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	711						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						TGGGCGCACACAAACTTTATC	0.333																																						ENST00000396516.2		NA																	0				breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						c.(2131-2133)gtgfs		zinc finger CCCH-type containing 7A							105.0	93.0	97.0					16																	11855848		2196	4300	6496	SO:0001589	frameshift_variant	29066					nucleus	nucleic acid binding|zinc ion binding	g.chr16:11855848delC	AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30959	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 7"", ""zinc finger CCCH-type containing 7"""	ZC3HDC7, ZC3H7		11042152	Standard	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.2131delG	16.37:g.11855848delC	ENSP00000379773:p.Val711fs	True	False		Somatic	1				ZC3H7A_ENST00000355758.4_Frame_Shift_Del_p.V711fs	p.V711fs			WXS	Illumina HiSeq	Phase_I	Q8IWR0	Z3H7A_HUMAN			17	2328	-			711					D3DUG5|Q9NPE9	Frame_Shift_Del	DEL	ENST00000396516.2	37	c.2131delG	CCDS10550.1																																																																																				0.333	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437066.1	0	NM_014153		16:11855848
AXDND1	126859	broad.mit.edu	37	1	179504035	179504040	+	In_Frame_Del	DEL	AAGAAC	AAGAAC	-	rs200097954|rs368406759|rs79330752|rs6425573	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	AAGAAC	AAGAAC	-	-	AAGAAC	AAGAAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:179504035_179504040delAAGAAC	ENST00000367618.3	+	25	3356_3361	c.2969_2974delAAGAAC	c.(2968-2976)gaagaacaa>gaa	p.EQ991del		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	991	Glu-rich.		E -> Q (in dbSNP:rs6425573).					p.E991_Q992delEQ(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						aaagaagaagaagaacaacaagaaga	0.316																																						ENST00000367618.3		NA																	1	Deletion - In frame(1)	p.E991_Q992delEQ(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						c.(2968-2976)gaagaacaa>gaa		axonemal dynein light chain domain containing 1				750,3386		64,622,1382						-7.3	0.0		dbSNP_131	50	2737,5481		321,2095,1693	no	coding	AXDND1	NM_144696.4		385,2717,3075	A1A1,A1R,RR		33.3049,18.1335,28.2257				3487,8867				SO:0001651	inframe_deletion	126859							g.chr1:179504035_179504040delAAGAAC	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2969_2974delAAGAAC	1.37:g.179504035_179504040delAAGAAC	ENSP00000356590:p.Glu991_Gln992del	True	False		Somatic	1					p.EQ991del	NM_144696.4	NP_653297.3	WXS	Illumina HiSeq	Phase_I	Q5T1B0	AXDN1_HUMAN			25	3356_3361	+			991		E -> Q (in dbSNP:rs6425573).	Glu-rich.		Q6AWB2|Q96LJ3|Q96M01	In_Frame_Del	DEL	ENST00000367618.3	37	c.2969_2974delAAGAAC	CCDS30948.1																																																																																				0.316	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	0	NM_144696		1:179504035
TTN	7273	broad.mit.edu	37	2	179393379	179393387	+	In_Frame_Del	DEL	TCTGAGAGT	TCTGAGAGT	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	TCTGAGAGT	TCTGAGAGT	-	-	TCTGAGAGT	TCTGAGAGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:179393379_179393387delTCTGAGAGT	ENST00000591111.1	-	310	102392_102400	c.102168_102176delACTCTCAGA	c.(102166-102177)gaactctcagat>gat	p.ELS34056del	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN_ENST00000342175.6_In_Frame_Del_p.ELS26824del|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_In_Frame_Del_p.ELS26757del|TTN_ENST00000460472.2_In_Frame_Del_p.ELS26632del|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_In_Frame_Del_p.ELS33129del|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000589042.1_In_Frame_Del_p.ELS35697del|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588244.1_RNA			Q8WZ42	TITIN_HUMAN	titin	34056					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCTGGAGCATCTGAGAGTTCTTTGCTCA	0.431																																						ENST00000589042.1		NA																	0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(107089-107100)gaactctcagat>gat		titin																																				SO:0001651	inframe_deletion	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179393379_179393387delTCTGAGAGT	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.102168_102176delACTCTCAGA	2.37:g.179393379_179393387delTCTGAGAGT	ENSP00000465570:p.Glu34056_Ser34058del	False	False		Somatic	1				TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_In_Frame_Del_p.ELS33129del|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000460472.2_In_Frame_Del_p.ELS26632del|TTN_ENST00000591111.1_In_Frame_Del_p.ELS34056del|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000359218.5_In_Frame_Del_p.ELS26757del|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN_ENST00000342175.6_In_Frame_Del_p.ELS26824del|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592630.1_RNA	p.ELS35697del	NM_001267550.1	NP_001254479.1	WXS	Illumina HiSeq	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		360	107315_107323	-			34056					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	In_Frame_Del	DEL	ENST00000591111.1	37	c.107091_107099delACTCTCAGA																																																																																					0.431	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	NM_133378		2:179393379
AP3S1	1176	broad.mit.edu	37	5	115202418	115202421	+	Frame_Shift_Del	DEL	AAGA	AAGA	-	rs80118146		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	AAGA	AAGA	-	-	AAGA	AAGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:115202418_115202421delAAGA	ENST00000316788.7	+	2	678_681	c.121_124delAAGA	c.(121-126)aagagafs	p.KR41fs		NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	41					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|AP-type membrane coat adaptor complex (GO:0030119)|Golgi apparatus (GO:0005794)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		TTTGGTATCTAAGAGAGATGAAAA	0.304																																						ENST00000316788.7		NA																	0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12						c.(121-126)aagagafs		adaptor-related protein complex 3, sigma 1 subunit																																				SO:0001589	frameshift_variant	1176				insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity	g.chr5:115202418_115202421delAAGA	D63643	CCDS4123.1	5q22	2010-06-29			ENSG00000177879	ENSG00000177879			2013	protein-coding gene	gene with protein product		601507		CLAPS3		8697810, 9118953	Standard	NM_001284		Approved		uc003krl.3	Q92572	OTTHUMG00000128887	ENST00000316788.7:c.121_124delAAGA	5.37:g.115202418_115202421delAAGA	ENSP00000325369:p.Lys41fs	True	False		Somatic	1					p.KR41fs	NM_001284.2	NP_001275.1	WXS	Illumina HiSeq	Phase_I	Q92572	AP3S1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)	2	678_681	+		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)	41					O00647|O00676|O00721|O00727|Q53XL4|Q6ICQ2	Frame_Shift_Del	DEL	ENST00000316788.7	37	c.121_124delAAGA	CCDS4123.1																																																																																				0.304	AP3S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250847.2	0			5:115202418
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212|rs368069269	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433																																						ENST00000379834.2		NA																	1	Substitution - Missense(1)	p.D57G(1)	large_intestine(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(190-192)gacdel		RIO kinase 1																																				SO:0001651	inframe_deletion	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7393450_7393452delGAC	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"""RIO kinase 1 (yeast)"""				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.190_192delGAC	6.37:g.7393450_7393452delGAC	ENSP00000369162:p.Asp69del	False	False		Somatic	1					p.D69del	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	WXS	Illumina HiSeq	Phase_I	Q9BRS2	RIOK1_HUMAN			2	697_699	+	Ovarian(93;0.0418)		69					B2RB28|Q8NDC8|Q96NV9	In_Frame_Del	DEL	ENST00000379834.2	37	c.190_192delGAC	CCDS4500.1																																																																																				0.433	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	0	NM_031480		6:7393450
HLA-DRB5	3127	broad.mit.edu	37	6	32497984	32497985	+	In_Frame_Ins	INS	-	-	GGCTTC			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:32497984_32497985insGGCTTC	ENST00000374975.3	-	1	79_80	c.17_18insGAAGCC	c.(16-18)ctc>ctGAAGCCc	p.6_7insKP		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						AACCTCCAGGGAGCTTCAGACA	0.579																																						ENST00000374975.3		NA																	0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						c.(16-18)ctc>ctGAAGCCc		major histocompatibility complex, class II, DR beta 5																																				SO:0001652	inframe_insertion	3127				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex		g.chr6:32497984_32497985insGGCTTC		CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.17_18insGAAGCC	6.37:g.32497984_32497985insGGCTTC	ENSP00000364114:p.Leu6_Pro7insLysPro	True	False		Somatic	0					p.6_7insKP	NM_002125.3	NP_002116.2	WXS	Illumina HiSeq	Phase_I	Q30154	DRB5_HUMAN			1	79_80	-			6						In_Frame_Ins	INS	ENST00000374975.3	37	c.17_18insGAAGCC	CCDS4751.1																																																																																				0.579	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	0	NM_002125		6:32497984
NFE2L3	9603	broad.mit.edu	37	7	26225083	26225084	+	Frame_Shift_Ins	INS	-	-	AAGTT			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:26225083_26225084insAAGTT	ENST00000056233.3	+	4	2024_2025	c.1765_1766insAAGTT	c.(1765-1767)aaafs	p.-590fs		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3						transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						AGGGAAAAATAAAGTTGCTGCG	0.376																																						ENST00000056233.3		NA																	0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						c.(1765-1767)aaafs		nuclear factor, erythroid 2-like 3																																				SO:0001589	frameshift_variant	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26225083_26225084insAAGTT	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1766_1770dupAAGTT	7.37:g.26225084_26225088dupAAGTT	ENSP00000056233:p.Val590fs	True	False		Somatic	1					p.-590fs	NM_004289.6	NP_004280.5	WXS	Illumina HiSeq	Phase_I	Q9Y4A8	NF2L3_HUMAN			4	2024_2025	+			NA					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Frame_Shift_Ins	INS	ENST00000056233.3	37	c.1765_1766insAAGTT	CCDS5396.1																																																																																				0.376	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1	0			7:26225083
AEBP1	165	broad.mit.edu	37	7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-	rs13928	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1133	Glu-rich.|Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.		K -> E (in dbSNP:rs13928). {ECO:0000269|Ref.3}.		cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552																																						ENST00000223357.3		NA																	0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(3394-3399)gagaaa>gaa		AE binding protein 1																																				SO:0001651	inframe_deletion	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44153778_44153780delAGA	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.3395_3397delAGA	7.37:g.44153778_44153780delAGA	ENSP00000223357:p.Lys1133del	True	False		Somatic	1				AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	p.K1133del	NM_001129.3	NP_001120.3	WXS	Illumina HiSeq	Phase_I	Q8IUX7	AEBP1_HUMAN			21	3700_3702	+			1133		K -> E (in dbSNP:rs13928).	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	In_Frame_Del	DEL	ENST00000223357.3	37	c.3395_3397delAGA	CCDS5476.1																																																																																				0.552	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	0	NM_001129		7:44153778
GRHL2	79977	broad.mit.edu	37	8	102643951	102643952	+	Splice_Site	INS	-	-	TG			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr8:102643951_102643952insTG	ENST00000251808.3	+	10	1682_1683	c.1344_1345insTG	c.(1345-1347)tcc>TGtcc	p.S449fs	GRHL2_ENST00000395927.1_Splice_Site_p.S433fs	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	449					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			AATGCAACAGCTGTGAGTTTCA	0.48																																						ENST00000251808.3		NA																	0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1345-1347)tcc>TGtcc		grainyhead-like 2 (Drosophila)																																				SO:0001630	splice_region_variant	79977					cytoplasm|nucleus	DNA binding	g.chr8:102643951_102643952insTG	AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"""deafness, autosomal dominant 28"", ""transcription factor CP2-like 3"""	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.1345+1->TG	8.37:g.102643954_102643955dupTG		False	False		Somatic	2				GRHL2_ENST00000395927.1_Splice_Site_p.S433fs	p.S449fs	NM_024915.3	NP_079191.2	WXS	Illumina HiSeq	Phase_I	Q6ISB3	GRHL2_HUMAN	Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)		10	1682_1683	+	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		449					A1L303|Q6NT03|Q9H8B8	Splice_Site	INS	ENST00000251808.3	37	c.1344_1345insTG	CCDS34931.1																																																																																				0.480	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	0	NM_024915	Frame_Shift_Ins	8:102643951
IL3RA	3563	broad.mit.edu	37	X	1471384	1471384	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:1471384G>A	ENST00000331035.4	+	6	950	c.601G>A	c.(601-603)Gtc>Atc	p.V201I	IL3RA_ENST00000381469.2_Missense_Mutation_p.V123I	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	201					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TAAGTTTGTCGTCTTTTCACA	0.582																																						ENST00000331035.4		NA																	0				lung(1)|skin(2)	3						c.(601-603)Gtc>Atc		interleukin 3 receptor, alpha (low affinity)	Sargramostim(DB00020)						192.0	186.0	188.0					X																	1471384		2203	4296	6499	SO:0001583	missense	3563					integral to membrane|plasma membrane	interleukin-3 receptor activity	g.chrX:1471384G>A	M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"""Pseudoautosomal regions / PAR1"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.601G>A	X.37:g.1471384G>A	ENSP00000327890:p.Val201Ile	False	False		Somatic	0				IL3RA_ENST00000381469.2_Missense_Mutation_p.V123I	p.V201I	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	WXS	Illumina HiSeq	Phase_I	P26951	IL3RA_HUMAN			6	950	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	201					A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Missense_Mutation	SNP	ENST00000331035.4	37	c.601G>A	CCDS14113.1	.	.	.	.	.	.	.	.	.	.	.	0.067	-1.210561	0.01555	.	.	ENSG00000185291	ENST00000331035;ENST00000432757;ENST00000381469	D;D;D	0.83419	-1.72;-1.72;-1.72	1.75	-3.5	0.04710	Interleukin-6 receptor alpha chain, binding (1);	3.183580	0.01689	U	0.026593	T	0.68805	0.3041	N	0.22421	0.69	0.09310	N	1	P;P	0.48998	0.899;0.918	B;B	0.39706	0.145;0.307	T	0.64045	-0.6499	10	0.36615	T	0.2	-17.4739	3.4193	0.07388	0.1745:0.0:0.3307:0.4948	.	122;201	P26951-2;P26951	.;IL3RA_HUMAN	I	201;123;123	ENSP00000327890:V201I;ENSP00000414867:V123I;ENSP00000370878:V123I	ENSP00000327890:V201I	V	+	1	0	IL3RA	1431384	0.000000	0.05858	0.000000	0.03702	0.141000	0.21300	-1.457000	0.02374	-2.153000	0.00793	-1.271000	0.01417	GTC		0.582	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3	0			X:1471384
MYH1	4619	broad.mit.edu	37	17	10416957	10416957	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:10416957G>A	ENST00000226207.5	-	9	885	c.791C>T	c.(790-792)gCt>gTt	p.A264V	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	264	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTCAATATCAGCAGAAGCCAG	0.408																																						ENST00000226207.5		NA																	0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(790-792)gCt>gTt		myosin, heavy chain 1, skeletal muscle, adult							115.0	113.0	114.0					17																	10416957		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10416957G>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.791C>T	17.37:g.10416957G>A	ENSP00000226207:p.Ala264Val	False	False		Somatic	0				CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	p.A264V	NM_005963.3	NP_005954.3	WXS	Illumina HiSeq	Phase_I	P12882	MYH1_HUMAN			9	885	-			264			Myosin head-like.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.791C>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	32	5.155559	0.94686	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	T	0.79247	-1.25	5.47	5.47	0.80525	Myosin head, motor domain (2);	0.000000	0.42964	U	0.000638	D	0.91222	0.7234	H	0.95224	3.64	0.80722	D	1	D	0.59767	0.986	P	0.61328	0.887	D	0.92981	0.6406	10	0.59425	D	0.04	.	19.6888	0.95989	0.0:0.0:1.0:0.0	.	264	P12882	MYH1_HUMAN	V	264	ENSP00000226207:A264V	ENSP00000226207:A264V	A	-	2	0	MYH1	10357682	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.726000	0.74758	2.715000	0.92844	0.655000	0.94253	GCT		0.408	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	0	NM_005963		17:10416957
TEX101	83639	broad.mit.edu	37	19	43922332	43922332	+	Nonsense_Mutation	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:43922332C>A	ENST00000598265.1	+	6	699	c.533C>A	c.(532-534)tCg>tAg	p.S178*	TEX101_ENST00000602198.1_Nonsense_Mutation_p.S196*|TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000253435.7_Nonsense_Mutation_p.S196*	NM_001130011.1	NP_001123483.1	Q9BY14	TX101_HUMAN	testis expressed 101	178	UPAR/Ly6.					acrosomal membrane (GO:0002080)|anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				GGCATTGAGTCGTCTGTGGAG	0.522																																						ENST00000602198.1		NA																	0				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15						c.(586-588)tCg>tAg		testis expressed 101							95.0	90.0	92.0					19																	43922332		2203	4300	6503	SO:0001587	stop_gained	83639					anchored to membrane|plasma membrane		g.chr19:43922332C>A	AF241268	CCDS12619.1, CCDS59393.1	19q13.31	2013-06-06	2007-03-13			ENSG00000131126			30722	protein-coding gene	gene with protein product	"""cancer/testis antigen 131"", ""spermatogenesis associated 44"""	612665	"""testis expressed sequence 101"""			16388701, 16516155	Standard	NM_031451		Approved	MGC4766, SGRG, CT131, SPATA44	uc010xwo.2	Q9BY14		ENST00000598265.1:c.533C>A	19.37:g.43922332C>A	ENSP00000472769:p.Ser178*	False	False		Somatic	0				TEX101_ENST00000598265.1_Nonsense_Mutation_p.S178*|TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000253435.7_Nonsense_Mutation_p.S196*	p.S196*	NM_031451.4	NP_113639.4	WXS	Illumina HiSeq	Phase_I	Q9BY14	TX101_HUMAN			8	1029	+		Prostate(69;0.0199)	178					Q7L5R2|Q9BPY7	Nonsense_Mutation	SNP	ENST00000598265.1	37	c.587C>A	CCDS59393.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.252496	0.39797	.	.	ENSG00000131126	ENST00000253435;ENST00000407156	.	.	.	4.28	3.25	0.37280	.	0.879578	0.09434	N	0.802755	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.9191	8.0831	0.30756	0.0:0.8919:0.0:0.1081	.	.	.	.	X	196;191	.	ENSP00000253435:S196X	S	+	2	0	TEX101	48614172	0.001000	0.12720	0.002000	0.10522	0.037000	0.13140	1.237000	0.32695	1.391000	0.46566	0.563000	0.77884	TCG		0.522	TEX101-004	KNOWN	non_canonical_other|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000463176.1	0	NM_031451		19:43922332
RAD51AP1	10635	broad.mit.edu	37	12	4665646	4665646	+	Missense_Mutation	SNP	G	G	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:4665646G>C	ENST00000352618.4	+	8	899	c.849G>C	c.(847-849)aaG>aaC	p.K283N	RAD51AP1_ENST00000544927.1_Intron|RAD51AP1_ENST00000543041.1_Missense_Mutation_p.K165N|RAD51AP1_ENST00000544931.1_Intron|RAD51AP1_ENST00000228843.9_Missense_Mutation_p.K300N|RAD51AP1_ENST00000321524.7_Intron	NM_006479.4	NP_006470.1			RAD51 associated protein 1											breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			CTGAAAGCAAGAAACCTAAAT	0.393																																						ENST00000228843.9		NA																	0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13						c.(898-900)aaG>aaC		RAD51 associated protein 1							81.0	79.0	80.0					12																	4665646		2203	4300	6503	SO:0001583	missense	10635				double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding	g.chr12:4665646G>C	AF006259	CCDS8529.1, CCDS44805.1	12p13.2-p13.1	2004-09-16			ENSG00000111247	ENSG00000111247			16956	protein-coding gene	gene with protein product		603070				9396801	Standard	NM_001130862		Approved	PIR51	uc001qmw.3	Q96B01	OTTHUMG00000168125	ENST00000352618.4:c.849G>C	12.37:g.4665646G>C	ENSP00000309479:p.Lys283Asn	True	False		Somatic	0				RAD51AP1_ENST00000321524.7_Intron|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.K283N|RAD51AP1_ENST00000543041.1_Missense_Mutation_p.K165N|RAD51AP1_ENST00000544931.1_Intron|RAD51AP1_ENST00000544927.1_Intron	p.K300N	NM_001130862.1	NP_001124334.1	WXS	Illumina HiSeq	Phase_I	Q96B01	R51A1_HUMAN	Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)		9	950	+			300						Missense_Mutation	SNP	ENST00000352618.4	37	c.900G>C	CCDS8529.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.03|16.03	3.007313|3.007313	0.54361|0.54361	.|.	.|.	ENSG00000111247|ENSG00000111247	ENST00000536117|ENST00000543041;ENST00000228843;ENST00000352618	.|T;T;T	.|0.54071	.|1.02;0.59;0.59	4.51|4.51	3.58|3.58	0.41010|0.41010	.|.	.|0.464142	.|0.23125	.|N	.|0.051651	T|T	0.57475|0.57475	0.2056|0.2056	M|M	0.61703|0.61703	1.905|1.905	0.23425|0.23425	N|N	0.997702|0.997702	.|D;P;P;D	.|0.53462	.|0.96;0.728;0.944;0.959	.|P;B;P;P	.|0.52957	.|0.599;0.334;0.714;0.714	T|T	0.52011|0.52011	-0.8632|-0.8632	5|10	.|0.87932	.|D	.|0	-2.0346|-2.0346	7.5909|7.5909	0.28021|0.28021	0.1221:0.0:0.8779:0.0|0.1221:0.0:0.8779:0.0	.|.	.|165;300;300;283	.|B4DUS5;Q96B01;A8K313;Q96B01-2	.|.;R51A1_HUMAN;.;.	Q|N	252|165;300;283	.|ENSP00000439960:K165N;ENSP00000228843:K300N;ENSP00000309479:K283N	.|ENSP00000228843:K300N	E|K	+|+	1|3	0|2	RAD51AP1|RAD51AP1	4535907|4535907	0.982000|0.982000	0.34865|0.34865	0.412000|0.412000	0.26496|0.26496	0.894000|0.894000	0.52154|0.52154	1.452000|1.452000	0.35156|0.35156	1.054000|1.054000	0.40438|0.40438	0.591000|0.591000	0.81541|0.81541	GAA|AAG		0.393	RAD51AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398293.1	0	NM_006479		12:4665646
PPP1R9B	84687	broad.mit.edu	37	17	48212935	48212935	+	Missense_Mutation	SNP	C	C	G			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:48212935C>G	ENST00000316878.6	-	11	2379	c.2377G>C	c.(2377-2379)Gac>Cac	p.D793H	PPP1R9B_ENST00000501501.2_5'UTR|AC002401.1_ENST00000451776.1_RNA	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	793	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to morphine (GO:0071315)|dendrite development (GO:0016358)|filopodium assembly (GO:0046847)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of cell proliferation (GO:0042127)|regulation of exit from mitosis (GO:0007096)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of protein phosphorylation (GO:0001932)|RNA splicing (GO:0008380)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|protein phosphatase type 1 complex (GO:0000164)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						AGGAGCTTGTCCATCTCCTCC	0.642																																						ENST00000316878.6		NA																	0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(2377-2379)Gac>Cac		protein phosphatase 1, regulatory subunit 9B							32.0	34.0	33.0					17																	48212935		1994	4161	6155	SO:0001583	missense	84687				cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity	g.chr17:48212935C>G	AJ401189	CCDS74102.1	17q21.33	2013-01-31	2011-10-04	2001-07-02	ENSG00000108819	ENSG00000108819		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9298	protein-coding gene	gene with protein product	"""spinophilin"", ""Neurabin-2"""	603325	"""protein phosphatase 1, regulatory subunit 9B, spinophilin"", ""protein phosphatase 1, regulatory (inhibitor) subunit 9B"""	PPP1R6, PPP1R9		9275233	Standard	NM_032595		Approved	Spn, SPINO	uc002iqh.4	Q96SB3	OTTHUMG00000162008	ENST00000316878.6:c.2377G>C	17.37:g.48212935C>G	ENSP00000475417:p.Asp793His	False	False		Somatic	0				PPP1R9B_ENST00000501501.2_5'UTR	p.D793H	NM_032595.3	NP_115984.3	WXS	Illumina HiSeq	Phase_I	Q96SB3	NEB2_HUMAN			11	2379	-			793			Interacts with TGN38 (By similarity).		Q8TCR9	Missense_Mutation	SNP	ENST00000316878.6	37	c.2377G>C																																																																																					0.642	PPP1R9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	NM_032595		17:48212935
ZACN	353174	broad.mit.edu	37	17	74077738	74077738	+	Missense_Mutation	SNP	G	G	A	rs201259366		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:74077738G>A	ENST00000334586.5	+	7	865	c.782G>A	c.(781-783)cGc>cAc	p.R261H	EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000607838.1_3'UTR	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	261	Leu-rich.				ion transmembrane transport (GO:0034220)|response to zinc ion (GO:0010043)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)|ligand-gated ion channel activity (GO:0015276)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						GCCATTGAGCGCATAGGCTAC	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		18545	0.0		0.001	False		,,,				2504	0.0					ENST00000334586.5		NA																	0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						c.(781-783)cGc>cAc		zinc activated ligand-gated ion channel							123.0	114.0	117.0					17																	74077738		2203	4300	6503	SO:0001583	missense	353174				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr17:74077738G>A	AK122638	CCDS11740.2	17q25.3	2012-01-18	2008-04-17	2008-04-17	ENSG00000186919	ENSG00000186919		"""Ligand-gated ion channels / Zinc activated channels"""	29504	protein-coding gene	gene with protein product		610935	"""ligand-gated ion channel, zinc activated 1"""	LGICZ1		12381728, 16083862	Standard	NM_180990		Approved	LGICZ, L2, ZAC, ZAC1	uc002jqn.2	Q401N2	OTTHUMG00000157186	ENST00000334586.5:c.782G>A	17.37:g.74077738G>A	ENSP00000334854:p.Arg261His	False	False		Somatic	0				EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000591724.1_Intron	p.R261H	NM_180990.3	NP_851321.2	WXS	Illumina HiSeq	Phase_I	Q401N2	ZACN_HUMAN			7	865	+			261			Leu-rich.		Q2TB29|Q6ZWK3|Q86YW4	Missense_Mutation	SNP	ENST00000334586.5	37	c.782G>A	CCDS11740.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	9.702	1.154853	0.21371	.	.	ENSG00000186919	ENST00000334586	D	0.88431	-2.38	4.64	2.61	0.31194	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.154450	0.43110	N	0.000602	D	0.83755	0.5323	M	0.78285	2.405	0.20196	N	0.999922	P	0.42518	0.782	B	0.28232	0.087	T	0.77517	-0.2558	10	0.87932	D	0	-15.7124	6.8633	0.24079	0.0924:0.0:0.7344:0.1732	.	261	Q401N2	ZACN_HUMAN	H	261	ENSP00000334854:R261H	ENSP00000334854:R261H	R	+	2	0	ZACN	71589333	0.751000	0.28327	0.017000	0.16124	0.217000	0.24651	1.805000	0.38883	0.557000	0.29117	0.505000	0.49811	CGC		0.622	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347827.2	0	NM_180990		17:74077738
SEC24C	9632	broad.mit.edu	37	10	75523278	75523278	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr10:75523278C>T	ENST00000339365.2	+	8	1180	c.1018C>T	c.(1018-1020)Cgg>Tgg	p.R340W	SEC24C_ENST00000411652.2_Missense_Mutation_p.R221W|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000345254.4_Missense_Mutation_p.R340W|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	340					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					CAGGAACAACCGGGGTACAGA	0.493																																						ENST00000339365.2		NA																	0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1018-1020)Cgg>Tgg		SEC24 family member C							80.0	80.0	80.0					10																	75523278		2203	4300	6503	SO:0001583	missense	9632				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr10:75523278C>T	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.1018C>T	10.37:g.75523278C>T	ENSP00000343405:p.Arg340Trp	True	False		Somatic	0				SEC24C_ENST00000345254.4_Missense_Mutation_p.R340W|SEC24C_ENST00000411652.2_Missense_Mutation_p.R221W|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron	p.R340W	NM_004922.3	NP_004913.2	WXS	Illumina HiSeq	Phase_I	P53992	SC24C_HUMAN			8	1180	+	Prostate(51;0.0112)		340					B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	37	c.1018C>T	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.461173	0.84317	.	.	ENSG00000176986	ENST00000345254;ENST00000339365;ENST00000411652	T;T;D	0.82081	-1.21;-1.21;-1.57	5.51	4.58	0.56647	.	0.046171	0.85682	D	0.000000	D	0.86368	0.5916	L	0.60067	1.865	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	P;P;P	0.57846	0.828;0.736;0.647	D	0.85637	0.1274	10	0.38643	T	0.18	-12.1663	13.3461	0.60573	0.2868:0.7132:0.0:0.0	.	221;340;340	E7EP00;G5EA31;P53992	.;.;SC24C_HUMAN	W	340;340;221	ENSP00000321845:R340W;ENSP00000343405:R340W;ENSP00000402913:R221W	ENSP00000343405:R340W	R	+	1	2	SEC24C	75193284	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.111000	0.41883	1.502000	0.48669	0.561000	0.74099	CGG		0.493	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1	0			10:75523278
AIM1	202	broad.mit.edu	37	6	106987378	106987378	+	Missense_Mutation	SNP	A	A	T	rs573858590		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:106987378A>T	ENST00000369066.3	+	7	4082	c.3595A>T	c.(3595-3597)Att>Ttt	p.I1199F	AIM1_ENST00000535438.1_5'Flank	NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.I1199V(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGAAGCGTACATTGGATCCAT	0.443																																						ENST00000369066.3		NA																	1	Substitution - Missense(1)	p.I1199V(1)	kidney(1)	breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(3595-3597)Att>Ttt		absent in melanoma 1							133.0	128.0	130.0					6																	106987378		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106987378A>T	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.3595A>T	6.37:g.106987378A>T	ENSP00000358062:p.Ile1199Phe	False	False		Somatic	0					p.I1199F	NM_001624.2	NP_001615	WXS	Illumina HiSeq	Phase_I	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	7	4082	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	1199			Beta/gamma crystallin 'Greek key' 4.		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.3595A>T	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.226532	0.79576	.	.	ENSG00000112297	ENST00000369066	T	0.78595	-1.19	5.66	5.66	0.87406	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.204155	0.50627	D	0.000103	D	0.84584	0.5504	M	0.72118	2.19	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.86093	0.1551	10	0.56958	D	0.05	.	15.9029	0.79397	1.0:0.0:0.0:0.0	.	1199	Q9Y4K1	AIM1_HUMAN	F	1199	ENSP00000358062:I1199F	ENSP00000358062:I1199F	I	+	1	0	AIM1	107094071	1.000000	0.71417	0.996000	0.52242	0.879000	0.50718	2.755000	0.47540	2.147000	0.66899	0.533000	0.62120	ATT		0.443	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1	0			6:106987378
TAS1R1	80835	broad.mit.edu	37	1	6631015	6631015	+	Missense_Mutation	SNP	C	C	T	rs199550568	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:6631015C>T	ENST00000333172.6	+	2	431	c.238C>T	c.(238-240)Cgg>Tgg	p.R80W	TAS1R1_ENST00000328191.4_Missense_Mutation_p.R80W|TAS1R1_ENST00000351136.3_Missense_Mutation_p.R80W	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	80					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CCAGGCTATGCGGCTTGGGGT	0.532													C|||	2	0.000399361	0.0	0.0014	5008	,	,		20054	0.0		0.0	False		,,,				2504	0.001					ENST00000333172.6		NA																	0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(238-240)Cgg>Tgg		taste receptor, type 1, member 1		C	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	135.0	124.0	128.0		238,238	1.7	0.9	1		128	0,8600		0,0,4300	no	missense,missense	TAS1R1	NM_138697.3,NM_177540.2	101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	80/842,80/588	6631015	1,13005	2203	4300	6503	SO:0001583	missense	0				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:6631015C>T		CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.238C>T	1.37:g.6631015C>T	ENSP00000331867:p.Arg80Trp	False	False		Somatic	0				TAS1R1_ENST00000351136.3_Missense_Mutation_p.R80W|TAS1R1_ENST00000328191.4_Missense_Mutation_p.R80W	p.R80W	NM_138697.3	NP_619642.2	WXS	Illumina HiSeq	Phase_I	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	2	431	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	80					B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP	ENST00000333172.6	37	c.238C>T	CCDS81.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	14.31	2.496650	0.44352	2.27E-4	0.0	ENSG00000173662	ENST00000333172;ENST00000328191;ENST00000437392;ENST00000351136	D;D;D	0.83992	-1.79;-1.79;-1.79	5.08	1.71	0.24356	Extracellular ligand-binding receptor (1);	0.129993	0.49916	D	0.000139	D	0.90546	0.7037	M	0.85041	2.73	0.36559	D	0.872319	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;P;D	0.91635	0.999;0.992;0.897;0.999	D	0.92403	0.5931	10	0.66056	D	0.02	.	12.478	0.55825	0.5223:0.4777:0.0:0.0	.	80;80;80;80	Q7RTX1-3;Q7RTX1-4;Q7RTX1-2;Q7RTX1	.;.;.;TS1R1_HUMAN	W	80;80;2;80	ENSP00000331867:R80W;ENSP00000327705:R80W;ENSP00000312558:R80W	ENSP00000327705:R80W	R	+	1	2	TAS1R1	6553602	0.584000	0.26766	0.906000	0.35671	0.335000	0.28730	0.314000	0.19432	0.497000	0.27926	-0.158000	0.13435	CGG		0.532	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1	0			1:6631015
PRPH2	5961	broad.mit.edu	37	6	42689575	42689575	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:42689575G>A	ENST00000230381.5	-	1	737	c.498C>T	c.(496-498)tgC>tgT	p.C166C		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	166					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			CGTTGTTGCCGCAGCATTTGA	0.507																																						ENST00000230381.5		NA																	0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(496-498)tgC>tgT		peripherin 2 (retinal degeneration, slow)							149.0	136.0	140.0					6																	42689575		2203	4300	6503	SO:0001819	synonymous_variant	5961				cell adhesion|visual perception	integral to membrane		g.chr6:42689575G>A		CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619		"""Tetraspanins"""	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	"""retinal degeneration, slow (retinitis pigmentosa 7)"", ""retinal degeneration, slow"""	RP7, RDS		1749427	Standard	NM_000322		Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.498C>T	6.37:g.42689575G>A		False	False		Somatic	0					p.C166C	NM_000322.4	NP_000313.2	WXS	Illumina HiSeq	Phase_I	P23942	PRPH2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)		1	737	-	Colorectal(47;0.196)		166					Q5TFH5|Q6DK65	Silent	SNP	ENST00000230381.5	37	c.498C>T	CCDS4871.1																																																																																				0.507	PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040556.1	0	NM_000322		6:42689575
HMHA1	23526	broad.mit.edu	37	19	1068622	1068622	+	Silent	SNP	G	G	A	rs148289980	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:1068622G>A	ENST00000313093.2	+	2	531	c.300G>A	c.(298-300)ccG>ccA	p.P100P	HMHA1_ENST00000586866.1_Silent_p.P104P|HMHA1_ENST00000536472.1_Intron|HMHA1_ENST00000592335.1_5'Flank|HMHA1_ENST00000543365.1_5'Flank|HMHA1_ENST00000590214.1_Silent_p.P127P|HMHA1_ENST00000539243.2_Silent_p.P116P	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	100					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCCAGCCCGGGCGAGCTGC	0.721													G|||	3	0.000599042	0.0	0.0	5008	,	,		14151	0.0		0.001	False		,,,				2504	0.002					ENST00000313093.2		NA																	0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16						c.(298-300)ccG>ccA		histocompatibility (minor) HA-1		G		0,4228		0,0,2114	15.0	16.0	16.0		300	-8.4	0.0	19	dbSNP_134	16	3,8305		0,3,4151	no	coding-synonymous	HMHA1	NM_012292.2		0,3,6265	AA,AG,GG		0.0361,0.0,0.0239		100/1137	1068622	3,12533	2114	4154	6268	SO:0001819	synonymous_variant	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1068622G>A	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.300G>A	19.37:g.1068622G>A		True	False		Somatic	0				HMHA1_ENST00000536472.1_Intron|HMHA1_ENST00000539243.2_Silent_p.P116P|HMHA1_ENST00000590214.1_Silent_p.P127P|HMHA1_ENST00000586866.1_Silent_p.P104P	p.P100P	NM_012292.3	NP_036424.2	WXS	Illumina HiSeq	Phase_I	Q92619	HMHA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	531	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	100					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Silent	SNP	ENST00000313093.2	37	c.300G>A	CCDS32863.1																																																																																				0.721	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1	0			19:1068622
MPP2	4355	broad.mit.edu	37	17	41955246	41955246	+	Missense_Mutation	SNP	G	G	A	rs376269624		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:41955246G>A	ENST00000461854.1	-	14	1745	c.1660C>T	c.(1660-1662)Cgc>Tgc	p.R554C	MPP2_ENST00000523501.1_Missense_Mutation_p.R519C|MPP2_ENST00000377184.3_Missense_Mutation_p.R547C|MPP2_ENST00000536246.1_Missense_Mutation_p.R519C|MPP2_ENST00000518766.1_Missense_Mutation_p.R575C|MPP2_ENST00000269095.4_Missense_Mutation_p.R530C|MPP2_ENST00000520305.1_Missense_Mutation_p.R391C			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	554	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.			R -> C (in Ref. 3; BAG61302). {ECO:0000305}.	nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		TGGAGCTCGCGGAAGGTCCTC	0.607																																						ENST00000269095.4		NA																	0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1588-1590)Cgc>Tgc		membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)		G	CYS/ARG	0,4406		0,0,2203	97.0	85.0	89.0		1588	2.2	0.3	17		89	1,8599	1.2+/-3.3	0,1,4299	no	missense	MPP2	NM_005374.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	530/553	41955246	1,13005	2203	4300	6503	SO:0001583	missense	4355				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity	g.chr17:41955246G>A		CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 2"", ""discs large, homolog 2"""	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.1660C>T	17.37:g.41955246G>A	ENSP00000428286:p.Arg554Cys	False	False		Somatic	0				MPP2_ENST00000461854.1_Missense_Mutation_p.R554C|MPP2_ENST00000520305.1_Missense_Mutation_p.R391C|MPP2_ENST00000377184.3_Missense_Mutation_p.R547C|MPP2_ENST00000536246.1_Missense_Mutation_p.R519C|MPP2_ENST00000523501.1_Missense_Mutation_p.R519C|MPP2_ENST00000518766.1_Missense_Mutation_p.R575C	p.R530C	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365	WXS	Illumina HiSeq	Phase_I	Q14168	MPP2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.12)	13	1892	-		Breast(137;0.00314)	554			Guanylate kinase-like.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000461854.1	37	c.1588C>T		.	.	.	.	.	.	.	.	.	.	g	18.17	3.564385	0.65651	0.0	1.16E-4	ENSG00000108852	ENST00000377184;ENST00000269095;ENST00000461854;ENST00000520305;ENST00000523501;ENST00000536246;ENST00000518766	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.35	2.2	0.27929	.	.	.	.	.	T	0.54647	0.1871	M	0.62723	1.935	0.54753	D	0.999988	D;D	0.76494	0.999;0.998	D;P	0.65140	0.932;0.888	T	0.52147	-0.8614	9	0.66056	D	0.02	.	8.7608	0.34674	0.0797:0.2865:0.6338:0.0	.	575;547	E7EV80;Q14168-3	.;.	C	547;530;554;391;519;519;575	ENSP00000366389:R547C;ENSP00000269095:R530C;ENSP00000428286:R554C;ENSP00000428136:R391C;ENSP00000430540:R519C;ENSP00000438012:R519C;ENSP00000428182:R575C	ENSP00000269095:R530C	R	-	1	0	MPP2	39310772	0.988000	0.35896	0.279000	0.24732	0.984000	0.73092	2.129000	0.42055	0.236000	0.21180	0.555000	0.69702	CGC		0.607	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	protein_coding	OTTHUMT00000258388.2	0	NM_005374		17:41955246
CBWD3	445571	broad.mit.edu	37	9	70871889	70871889	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:70871889C>T	ENST00000360171.6	+	5	1034	c.483C>T	c.(481-483)taC>taT	p.Y161Y	CBWD3_ENST00000377342.5_Intron	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN	COBW domain containing 3	161							ATP binding (GO:0005524)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		GTGATATTTACCTTGATGGTA	0.294																																						ENST00000360171.6		NA																	0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(481-483)taC>taT		COBW domain containing 3																																				SO:0001819	synonymous_variant	445571						ATP binding	g.chr9:70871889C>T	BC069006	CCDS35038.1, CCDS35038.2	9q13	2014-05-06			ENSG00000196873	ENSG00000196873			18519	protein-coding gene	gene with protein product		611080				15233989, 12421752	Standard	XM_005277637		Approved	bA561O23.1	uc004aga.4	Q5JTY5	OTTHUMG00000184383	ENST00000360171.6:c.483C>T	9.37:g.70871889C>T		False	False		Somatic	0				CBWD3_ENST00000377342.5_Intron	p.Y161Y	NM_201453.2	NP_958861.2	WXS	Illumina HiSeq	Phase_I	Q5JTY5	CBWD3_HUMAN		all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)	5	1034	+			161					B4DNG9|Q6VB91	Silent	SNP	ENST00000360171.6	37	c.483C>T	CCDS35038.1																																																																																				0.294	CBWD3-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052526.1	0	NM_201453		9:70871889
PLEKHM1P	440456	broad.mit.edu	37	17	62788497	62788497	+	RNA	SNP	C	C	T	rs532823758	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:62788497C>T	ENST00000582986.1	-	0	2112					NR_024386.1		Q69YJ1	PKHMP_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene						intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)										GGCGCCACTCCGGCACAGGCC	0.577																																						ENST00000582986.1		NA																	0					NA																																														0							g.chr17:62788497C>T			17q24.1	2012-10-03			ENSG00000214176	ENSG00000214176			35411	pseudogene	pseudogene							Standard	NR_024386		Approved	LOC440456	uc002jew.4	Q69YJ1	OTTHUMG00000179296		17.37:g.62788497C>T		False	False		Somatic	0						NR_024386.1		WXS	Illumina HiSeq	Phase_I					0	2112	-			NA						RNA	SNP	ENST00000582986.1	37																																																																																						0.577	PLEKHM1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445598.1	0	NR_024386		17:62788497
UBE3C	9690	broad.mit.edu	37	7	156994419	156994419	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:156994419C>A	ENST00000348165.5	+	11	1696	c.1336C>A	c.(1336-1338)Ctc>Atc	p.L446I		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	446					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TTTTAGGCTTCTCTACAGTTT	0.318																																						ENST00000348165.5		NA																	0				central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63						c.(1336-1338)Ctc>Atc		ubiquitin protein ligase E3C							148.0	132.0	138.0					7																	156994419		2203	4300	6503	SO:0001583	missense	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:156994419C>A	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.1336C>A	7.37:g.156994419C>A	ENSP00000309198:p.Leu446Ile	False	False		Somatic	0					p.L446I	NM_014671.2	NP_055486.2	WXS	Illumina HiSeq	Phase_I	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	11	1696	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	446					A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	c.1336C>A	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405940	0.62288	.	.	ENSG00000009335	ENST00000348165	T	0.63255	-0.03	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.71204	0.3312	M	0.72894	2.215	0.80722	D	1	P;P	0.52316	0.888;0.952	P;P	0.52758	0.622;0.708	T	0.72214	-0.4358	10	0.48119	T	0.1	-23.106	14.1289	0.65240	0.0:0.9285:0.0:0.0715	.	446;446	Q15386;Q15386-2	UBE3C_HUMAN;.	I	446	ENSP00000309198:L446I	ENSP00000309198:L446I	L	+	1	0	UBE3C	156687180	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.328000	0.65887	2.716000	0.92895	0.591000	0.81541	CTC		0.318	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	0	NM_014671		7:156994419
PTCH2	8643	broad.mit.edu	37	1	45297975	45297975	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:45297975C>T	ENST00000372192.3	-	3	434	c.304G>A	c.(304-306)Gag>Aag	p.E102K	PTCH2_ENST00000447098.2_Missense_Mutation_p.E102K	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	102					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CCCAGCTTCTCCTTGGTGTAA	0.602									Basal Cell Nevus syndrome																													ENST00000447098.2		NA																	0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50						c.(304-306)Gag>Aag		patched 2							188.0	175.0	180.0					1																	45297975		2203	4300	6503	SO:0001583	missense	8643	Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45297975C>T	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.304G>A	1.37:g.45297975C>T	ENSP00000361266:p.Glu102Lys	False	False		Somatic	0				PTCH2_ENST00000372192.3_Missense_Mutation_p.E102K	p.E102K	NM_001166292.1	NP_001159764.1	WXS	Illumina HiSeq	Phase_I	Q9Y6C5	PTC2_HUMAN			3	315	-	Acute lymphoblastic leukemia(166;0.155)		102					O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	c.304G>A	CCDS516.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.147753	0.57151	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.92911	-3.12;-3.13	4.67	4.67	0.58626	.	0.000000	0.48767	D	0.000175	D	0.90113	0.6911	L	0.31294	0.92	0.51233	D	0.999915	P	0.51537	0.946	P	0.55161	0.77	D	0.86497	0.1801	10	0.06099	T	0.92	-0.1502	16.5237	0.84324	0.0:1.0:0.0:0.0	.	102	Q9Y6C5	PTC2_HUMAN	K	102	ENSP00000389703:E102K;ENSP00000361266:E102K	ENSP00000361266:E102K	E	-	1	0	PTCH2	45070562	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.516000	0.53436	2.425000	0.82216	0.561000	0.74099	GAG		0.602	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	0	NM_003738		1:45297975
ORC3	23595	broad.mit.edu	37	6	88375514	88375514	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:88375514A>G	ENST00000392844.3	+	19	2041	c.1993A>G	c.(1993-1995)Aat>Gat	p.N665D	ORC3_ENST00000546266.1_Missense_Mutation_p.N522D|ORC3_ENST00000257789.4_Missense_Mutation_p.N666D	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	665					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|neural precursor cell proliferation (GO:0061351)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA replication origin binding (GO:0003688)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						AATGGATGCAAATTCTGCAAC	0.308																																						ENST00000392844.3		NA																	0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						c.(1993-1995)Aat>Gat		origin recognition complex, subunit 3							54.0	55.0	55.0					6																	88375514		2203	4299	6502	SO:0001583	missense	23595				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	g.chr6:88375514A>G	AF093535	CCDS5012.1, CCDS43486.1, CCDS56440.1	6q	2010-10-12	2010-10-12	2010-10-12	ENSG00000135336	ENSG00000135336			8489	protein-coding gene	gene with protein product		604972	"""origin recognition complex, subunit 3 (yeast homolog)-like"", ""origin recognition complex, subunit 3-like (yeast)"", ""origin recognition complex, subunit 3 honolog (yeast)"""	ORC3L		9829972, 10402192	Standard	NM_181837		Approved	IMAGE50150, LATHEO	uc003pmg.3	Q9UBD5	OTTHUMG00000015179	ENST00000392844.3:c.1993A>G	6.37:g.88375514A>G	ENSP00000376586:p.Asn665Asp	True	False		Somatic	0				ORC3_ENST00000546266.1_Missense_Mutation_p.N522D|ORC3_ENST00000257789.4_Missense_Mutation_p.N666D	p.N665D	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	WXS	Illumina HiSeq	Phase_I	Q9UBD5	ORC3_HUMAN			19	2041	+			665					A2A2T5|B4E025|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6	Missense_Mutation	SNP	ENST00000392844.3	37	c.1993A>G	CCDS43486.1	.	.	.	.	.	.	.	.	.	.	A	2.638	-0.284914	0.05605	.	.	ENSG00000135336	ENST00000392844;ENST00000257789;ENST00000546266	T;T;T	0.12039	3.05;3.05;2.72	5.85	2.07	0.26955	.	0.428631	0.27522	N	0.018983	T	0.00936	0.0031	N	0.01209	-0.955	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.001;0.002	T	0.47262	-0.9131	10	0.06494	T	0.89	-1.2314	9.5362	0.39224	0.6376:0.0:0.3624:0.0	.	603;665;666	B4E014;Q9UBD5;Q9UBD5-2	.;ORC3_HUMAN;.	D	665;666;522	ENSP00000376586:N665D;ENSP00000257789:N666D;ENSP00000444695:N522D	ENSP00000257789:N666D	N	+	1	0	ORC3	88432233	1.000000	0.71417	0.135000	0.22099	0.997000	0.91878	2.531000	0.45650	0.115000	0.18071	0.533000	0.62120	AAT		0.308	ORC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041452.2	0			6:88375514
CYP4B1	1580	broad.mit.edu	37	1	47284367	47284367	+	Missense_Mutation	SNP	C	C	T	rs138678209		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:47284367C>T	ENST00000271153.4	+	12	1453	c.1417C>T	c.(1417-1419)Cgc>Tgc	p.R473C	CYP4B1_ENST00000371919.4_Missense_Mutation_p.R459C|CYP4B1_ENST00000371923.4_Missense_Mutation_p.R474C|CYP4B1_ENST00000452782.2_Missense_Mutation_p.R311C			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	473					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	GTGCTTGCTCCGCTTTGAGTT	0.557													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20812	0.0		0.0	False		,,,				2504	0.0					ENST00000271153.4		NA																	0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36						c.(1417-1419)Cgc>Tgc		cytochrome P450, family 4, subfamily B, polypeptide 1		C	CYS/ARG,CYS/ARG	4,4402	8.1+/-20.4	0,4,2199	179.0	151.0	161.0		1417,1420	3.9	0.4	1	dbSNP_134	161	0,8600		0,0,4300	yes	missense,missense	CYP4B1	NM_000779.3,NM_001099772.1	180,180	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	possibly-damaging,possibly-damaging	473/512,474/513	47284367	4,13002	2203	4300	6503	SO:0001583	missense	1580				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47284367C>T	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.1417C>T	1.37:g.47284367C>T	ENSP00000271153:p.Arg473Cys	False	False		Somatic	0				CYP4B1_ENST00000371923.4_Missense_Mutation_p.R474C|CYP4B1_ENST00000452782.2_Missense_Mutation_p.R311C|CYP4B1_ENST00000371919.4_Missense_Mutation_p.R459C	p.R473C			WXS	Illumina HiSeq	Phase_I	P13584	CP4B1_HUMAN			12	1453	+	Acute lymphoblastic leukemia(166;0.155)		473					Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Missense_Mutation	SNP	ENST00000271153.4	37	c.1417C>T	CCDS542.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.04	1.818235	0.32145	9.08E-4	0.0	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919;ENST00000452782	T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54	5.8	3.93	0.45458	.	0.266510	0.42053	D	0.000771	T	0.81422	0.4819	M	0.79258	2.445	0.23266	N	0.998011	D;P;P	0.76494	0.999;0.791;0.826	D;B;P	0.64877	0.93;0.432;0.568	T	0.73418	-0.3989	9	.	.	.	.	11.5076	0.50476	0.1254:0.8094:0.0:0.0652	.	459;474;473	Q8IZB0;P13584-2;P13584	.;.;CP4B1_HUMAN	C	474;473;459;311	ENSP00000360991:R474C;ENSP00000271153:R473C;ENSP00000360987:R459C;ENSP00000400413:R311C	.	R	+	1	0	CYP4B1	47056954	0.154000	0.22792	0.437000	0.26809	0.002000	0.02628	1.217000	0.32455	0.801000	0.34066	-0.152000	0.13540	CGC		0.557	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	0	NM_000779		1:47284367
CNIH3	149111	broad.mit.edu	37	1	224872534	224872534	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:224872534C>T	ENST00000272133.3	+	3	1069	c.187C>T	c.(187-189)Ctt>Ttt	p.L63F		NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3	63					intracellular signal transduction (GO:0035556)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of membrane potential (GO:0042391)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|postsynaptic membrane (GO:0045211)	channel regulator activity (GO:0016247)			large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		CATCTGCTTCCTTCTGCGAAA	0.532																																						ENST00000272133.3		NA																	0				large_intestine(5)|lung(4)	9						c.(187-189)Ctt>Ttt		cornichon family AMPA receptor auxiliary protein 3							200.0	159.0	173.0					1																	224872534		2203	4300	6503	SO:0001583	missense	149111				intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane		g.chr1:224872534C>T	AF070524	CCDS1544.1	1q42.12	2013-08-28	2013-08-28		ENSG00000143786	ENSG00000143786			26802	protein-coding gene	gene with protein product			"""cornichon homolog 3 (Drosophila)"""			8619474, 9110174	Standard	NM_152495		Approved	FLJ38993, CNIH-3	uc001hos.1	Q8TBE1	OTTHUMG00000037634	ENST00000272133.3:c.187C>T	1.37:g.224872534C>T	ENSP00000272133:p.Leu63Phe	True	False		Somatic	0					p.L63F	NM_152495.1	NP_689708.1	WXS	Illumina HiSeq	Phase_I	Q8TBE1	CNIH3_HUMAN		GBM - Glioblastoma multiforme(131;0.073)	3	1069	+	Breast(184;0.218)		63						Missense_Mutation	SNP	ENST00000272133.3	37	c.187C>T	CCDS1544.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.558961	0.45590	.	.	ENSG00000143786	ENST00000272133	T	0.42513	0.97	4.49	3.58	0.41010	.	0.000000	0.64402	U	0.000001	T	0.27866	0.0686	L	0.29908	0.895	0.45567	D	0.998516	B	0.15719	0.014	B	0.19391	0.025	T	0.05022	-1.0911	10	0.09338	T	0.73	-13.0488	11.2414	0.48972	0.0:0.9082:0.0:0.0918	.	63	Q8TBE1	CNIH3_HUMAN	F	63	ENSP00000272133:L63F	ENSP00000272133:L63F	L	+	1	0	CNIH3	222939157	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.258000	0.65479	0.892000	0.36259	0.551000	0.68910	CTT		0.532	CNIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091752.2	0	NM_152495		1:224872534
MYO5A	4644	broad.mit.edu	37	15	52667657	52667657	+	Splice_Site	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:52667657G>A	ENST00000399231.3	-	20	2664	c.2421C>T	c.(2419-2421)tgC>tgT	p.C807C	MYO5A_ENST00000553916.1_Splice_Site_p.C807C|MYO5A_ENST00000399233.2_Splice_Site_p.C807C|MYO5A_ENST00000358212.6_Splice_Site_p.C807C|MYO5A_ENST00000356338.6_Splice_Site_p.C807C	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	807	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		ACTTAGCATAGCTGGCCAAAG	0.398																																						ENST00000399231.3		NA																	0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(2419-2421)tgC>tgT		myosin VA (heavy chain 12, myoxin)							67.0	63.0	64.0					15																	52667657		1885	4115	6000	SO:0001630	splice_region_variant	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52667657G>A		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.2421-1C>T	15.37:g.52667657G>A		False	False		Somatic	0				MYO5A_ENST00000399233.2_Splice_Site_p.C807C|MYO5A_ENST00000356338.6_Splice_Site_p.C807C|MYO5A_ENST00000553916.1_Splice_Site_p.C807C|MYO5A_ENST00000358212.6_Splice_Site_p.C807C	p.C807C	NM_000259.3	NP_000250	WXS	Illumina HiSeq	Phase_I	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	20	2664	-			807			IQ 2.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Splice_Site	SNP	ENST00000399231.3	37	c.2421C>T	CCDS42037.1																																																																																				0.398	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	0	NM_000259	Silent	15:52667657
IMP3	55272	broad.mit.edu	37	15	75932242	75932242	+	Missense_Mutation	SNP	G	G	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:75932242G>C	ENST00000314852.2	-	2	1211	c.268C>G	c.(268-270)Ccc>Gcc	p.P90A	IMP3_ENST00000565349.1_5'Flank|CTD-2026K11.2_ENST00000564683.1_RNA|IMP3_ENST00000403490.1_Missense_Mutation_p.P90A			Q8TCT8	SPP2A_HUMAN	IMP3, U3 small nucleolar ribonucleoprotein	450	PA.		V -> I (in dbSNP:rs8034443).		membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	extracellular vesicular exosome (GO:0070062)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)			large_intestine(1)	1						CCGCGCGTGGGCACCAAGCCG	0.711																																						ENST00000314852.2		NA																	0				large_intestine(1)	1						c.(268-270)Ccc>Gcc		IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast)							13.0	12.0	12.0					15																	75932242		2159	4236	6395	SO:0001583	missense	55272				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding|rRNA binding	g.chr15:75932242G>C	AB051628	CCDS10282.1	15q24	2014-02-19	2014-02-19	2005-07-14	ENSG00000177971	ENSG00000177971			14497	protein-coding gene	gene with protein product		612980	"""mitochondrial ribosomal protein S4"", ""chromosome 15 open reading frame 12"", ""IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""	MRPS4, C15orf12		11543634, 12655004	Standard	NM_018285		Approved	FLJ10968, BRMS2	uc010bkl.2	Q9NV31	OTTHUMG00000142840	ENST00000314852.2:c.268C>G	15.37:g.75932242G>C	ENSP00000326981:p.Pro90Ala	True	False		Somatic	0				IMP3_ENST00000403490.1_Missense_Mutation_p.P90A	p.P90A			WXS	Illumina HiSeq	Phase_I	Q9NV31	IMP3_HUMAN			2	1211	-			90					B2RDS0|Q8TAW1|Q96SZ8	Missense_Mutation	SNP	ENST00000314852.2	37	c.268C>G	CCDS10282.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457162	0.63401	.	.	ENSG00000177971	ENST00000314852;ENST00000403490	T;T	0.35789	1.29;1.29	6.17	5.26	0.73747	.	0.119153	0.56097	D	0.000023	T	0.27349	0.0671	L	0.27053	0.805	0.54753	D	0.999984	B	0.19706	0.038	B	0.19391	0.025	T	0.04386	-1.0955	10	0.30078	T	0.28	-16.8425	13.6525	0.62318	0.0:0.1546:0.8454:0.0	.	90	Q9NV31	IMP3_HUMAN	A	90	ENSP00000326981:P90A;ENSP00000385217:P90A	ENSP00000326981:P90A	P	-	1	0	IMP3	73719297	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.252000	0.51461	1.615000	0.50252	0.655000	0.94253	CCC		0.711	IMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286476.1	0	NM_018285		15:75932242
HNRNPL	3191	broad.mit.edu	37	19	39338057	39338057	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:39338057C>T	ENST00000221419.5	-	2	651	c.285G>A	c.(283-285)ccG>ccA	p.P95P	HNRNPL_ENST00000600873.1_5'UTR|AC008982.2_ENST00000600473.1_RNA	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	95					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)	p.P95P(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GGGTTTTGTGCGGGTCATCGT	0.522																																						ENST00000221419.5		NA																	1	Substitution - coding silent(1)	p.P95P(1)	endometrium(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(283-285)ccG>ccA		heterogeneous nuclear ribonucleoprotein L							85.0	75.0	78.0					19																	39338057		2203	4300	6503	SO:0001819	synonymous_variant	3191				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	g.chr19:39338057C>T	X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.285G>A	19.37:g.39338057C>T		True	False		Somatic	0				HNRNPL_ENST00000600873.1_5'UTR	p.P95P	NM_001533.2	NP_001524.2	WXS	Illumina HiSeq	Phase_I	P14866	HNRPL_HUMAN	Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)		2	651	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		95					A6ND69|A6NIT8|Q9H3P3	Silent	SNP	ENST00000221419.5	37	c.285G>A	CCDS33015.1																																																																																				0.522	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1	0			19:39338057
TMPRSS15	5651	broad.mit.edu	37	21	19715919	19715919	+	Missense_Mutation	SNP	G	G	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr21:19715919G>C	ENST00000284885.3	-	12	1365	c.1332C>G	c.(1330-1332)gaC>gaG	p.D444E		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	444	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CCATATTTTGGTCATTGCTGA	0.308																																						ENST00000284885.3		NA																	0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(1330-1332)gaC>gaG		transmembrane protease, serine 15							103.0	93.0	97.0					21																	19715919		2202	4293	6495	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19715919G>C		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1332C>G	21.37:g.19715919G>C	ENSP00000284885:p.Asp444Glu	False	False		Somatic	0					p.D444E	NM_002772.2	NP_002763	WXS	Illumina HiSeq	Phase_I	P98073	ENTK_HUMAN			12	1365	-			444			MAM.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.1332C>G	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	G	0.176	-1.067030	0.01934	.	.	ENSG00000154646	ENST00000284885	T	0.01998	4.51	5.2	-1.59	0.08453	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.623886	0.16306	N	0.220238	T	0.01156	0.0038	N	0.17082	0.46	0.09310	N	1	B	0.14012	0.009	B	0.10450	0.005	T	0.47169	-0.9138	9	.	.	.	.	1.0118	0.01498	0.2894:0.1005:0.3249:0.2853	.	444	P98073	ENTK_HUMAN	E	444	ENSP00000284885:D444E	.	D	-	3	2	TMPRSS15	18637790	0.000000	0.05858	0.917000	0.36280	0.711000	0.40976	-0.655000	0.05348	0.008000	0.14787	0.460000	0.39030	GAC		0.308	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	0	NM_002772		21:19715919
UMODL1	89766	broad.mit.edu	37	21	43529716	43529716	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr21:43529716G>A	ENST00000408910.2	+	10	1564	c.1564G>A	c.(1564-1566)Gct>Act	p.A522T	UMODL1_ENST00000408989.2_Missense_Mutation_p.A522T|C21orf128_ENST00000329015.2_5'Flank|UMODL1_ENST00000400427.1_Missense_Mutation_p.A450T|UMODL1_ENST00000400424.2_Missense_Mutation_p.A450T	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	522	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CTGCTCACCGGCTGCCTGGTG	0.627																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000400424.2		NA																	0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1348-1350)Gct>Act		uromodulin-like 1							70.0	83.0	79.0					21																	43529716		2051	4178	6229	SO:0001583	missense	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43529716G>A		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1564G>A	21.37:g.43529716G>A	ENSP00000386147:p.Ala522Thr	False	False		Somatic	0				UMODL1_ENST00000400427.1_Missense_Mutation_p.A450T|UMODL1_ENST00000408989.2_Missense_Mutation_p.A522T|UMODL1_ENST00000408910.2_Missense_Mutation_p.A522T	p.A450T	NM_001199528.2	NP_001186457	WXS	Illumina HiSeq	Phase_I	Q5DID0	UROL1_HUMAN			10	1744	+			NA			SEA 1.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.1348G>A	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	G	6.981	0.551127	0.13374	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	D;D;D;D	0.92149	-1.54;-2.98;-1.54;-2.98	3.23	1.34	0.21922	EGF-like calcium-binding, conserved site (1);Epidermal growth factor-like (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	1.885950	0.03158	N	0.168966	D	0.87010	0.6071	N	0.16790	0.44	0.09310	N	1	B;B	0.32753	0.383;0.055	B;B	0.40009	0.316;0.093	T	0.77357	-0.2618	10	0.27785	T	0.31	-3.9791	5.9046	0.18986	0.2526:0.0:0.7474:0.0	.	522;522	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	T	450;450;522;522	ENSP00000383279:A450T;ENSP00000383276:A450T;ENSP00000386126:A522T;ENSP00000386147:A522T	ENSP00000383276:A450T	A	+	1	0	UMODL1	42402785	0.000000	0.05858	0.006000	0.13384	0.003000	0.03518	0.384000	0.20668	0.364000	0.24374	-0.150000	0.13652	GCT		0.627	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2	0			21:43529716
GYS2	2998	broad.mit.edu	37	12	21693480	21693480	+	Missense_Mutation	SNP	C	C	T	rs373682083		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:21693480C>T	ENST00000261195.2	-	14	1927	c.1673G>A	c.(1672-1674)cGt>cAt	p.R558H		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	558					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ATCTGGAGAACGGAACCGCCT	0.418																																					Colon(149;9 1820 3690 10544 50424)	ENST00000261195.2		NA																	0				NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1672-1674)cGt>cAt		glycogen synthase 2 (liver)		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	102.0	103.0	103.0		1673	4.2	1.0	12		103	0,8600		0,0,4300	no	missense	GYS2	NM_021957.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	558/704	21693480	1,13005	2203	4300	6503	SO:0001583	missense	2998				glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	g.chr12:21693480C>T		CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.1673G>A	12.37:g.21693480C>T	ENSP00000261195:p.Arg558His	False	False		Somatic	0					p.R558H	NM_021957.3	NP_068776.2	WXS	Illumina HiSeq	Phase_I	P54840	GYS2_HUMAN			14	1927	-			558					A0AVD8	Missense_Mutation	SNP	ENST00000261195.2	37	c.1673G>A	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938371	0.73557	2.27E-4	0.0	ENSG00000111713	ENST00000261195	T	0.65549	-0.16	5.1	4.21	0.49690	.	0.593520	0.18354	N	0.143787	T	0.68339	0.2990	L	0.35723	1.085	0.47374	D	0.999406	D	0.54601	0.967	P	0.61275	0.886	T	0.70916	-0.4742	10	0.72032	D	0.01	-1.7161	13.8336	0.63395	0.0:0.926:0.0:0.074	.	558	P54840	GYS2_HUMAN	H	558	ENSP00000261195:R558H	ENSP00000261195:R558H	R	-	2	0	GYS2	21584747	1.000000	0.71417	0.983000	0.44433	0.991000	0.79684	3.026000	0.49689	1.369000	0.46134	0.650000	0.86243	CGT		0.418	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	0	NM_021957		12:21693480
ANKRD12	23253	broad.mit.edu	37	18	9279616	9279616	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr18:9279616G>A	ENST00000262126.4	+	12	6217	c.5977G>A	c.(5977-5979)Gtg>Atg	p.V1993M	snoU13_ENST00000459594.1_RNA|ANKRD12_ENST00000400020.3_Missense_Mutation_p.V1970M|ANKRD12_ENST00000383440.2_Missense_Mutation_p.V1970M	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1993						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GTTACAAGATGTGGATGATAA	0.313																																						ENST00000262126.4		NA																	0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						c.(5977-5979)Gtg>Atg		ankyrin repeat domain 12							102.0	112.0	108.0					18																	9279616		2203	4300	6503	SO:0001583	missense	23253					nucleus		g.chr18:9279616G>A	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.5977G>A	18.37:g.9279616G>A	ENSP00000262126:p.Val1993Met	False	False		Somatic	0				ANKRD12_ENST00000383440.2_Missense_Mutation_p.V1970M|ANKRD12_ENST00000400020.3_Missense_Mutation_p.V1970M	p.V1993M	NM_015208.4	NP_056023.3	WXS	Illumina HiSeq	Phase_I	Q6UB98	ANR12_HUMAN			12	6217	+			NA					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	c.5977G>A	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	G	32	5.117487	0.94385	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.77877	-1.12;-1.13	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.87989	0.6317	M	0.66297	2.02	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	D	0.88078	0.2805	10	0.87932	D	0	-9.2931	20.127	0.97984	0.0:0.0:1.0:0.0	.	1970;1993	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	M	1970;1993	ENSP00000372932:V1970M;ENSP00000262126:V1993M	ENSP00000262126:V1993M	V	+	1	0	ANKRD12	9269616	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.835000	0.99442	2.775000	0.95449	0.585000	0.79938	GTG		0.313	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	0	NM_015208		18:9279616
EPHB2	2048	broad.mit.edu	37	1	23110922	23110922	+	Missense_Mutation	SNP	C	C	T	rs202156735		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:23110922C>T	ENST00000400191.3	+	3	182	c.164C>T	c.(163-165)aCg>aTg	p.T55M	EPHB2_ENST00000374630.3_Missense_Mutation_p.T55M|EPHB2_ENST00000374627.1_Missense_Mutation_p.T49M|EPHB2_ENST00000544305.1_Missense_Mutation_p.T55M|EPHB2_ENST00000374632.3_Missense_Mutation_p.T55M	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	55	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		AACATGAACACGATCCGCACG	0.572													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21668	0.0		0.0	False		,,,				2504	0.0					ENST00000400191.3		NA																	0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56						c.(163-165)aCg>aTg		EPH receptor B2							105.0	88.0	93.0					1																	23110922		2203	4300	6503	SO:0001583	missense	2048				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23110922C>T	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.164C>T	1.37:g.23110922C>T	ENSP00000383053:p.Thr55Met	False	False		Somatic	0				EPHB2_ENST00000374632.3_Missense_Mutation_p.T55M|EPHB2_ENST00000374630.3_Missense_Mutation_p.T55M|EPHB2_ENST00000544305.1_Missense_Mutation_p.T55M|EPHB2_ENST00000374627.1_Missense_Mutation_p.T49M	p.T55M	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	WXS	Illumina HiSeq	Phase_I	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	3	182	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	55					O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	37	c.164C>T		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	22.9	4.346203	0.82022	.	.	ENSG00000133216	ENST00000374625;ENST00000544305;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T;T	0.03689	3.84;3.84;3.84;3.84;3.84	5.19	5.19	0.71726	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.17238	0.0414	M	0.66939	2.045	0.80722	D	1	P;D;D;D	0.89917	0.913;1.0;1.0;1.0	B;D;D;D	0.76575	0.369;0.988;0.988;0.969	T	0.00034	-1.2266	10	0.72032	D	0.01	.	17.4346	0.87548	0.0:1.0:0.0:0.0	.	55;55;73;55	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	M	55;55;55;55;55;49	ENSP00000444174:T55M;ENSP00000363761:T55M;ENSP00000383053:T55M;ENSP00000363763:T55M;ENSP00000363758:T49M	ENSP00000363755:T55M	T	+	2	0	EPHB2	22983509	1.000000	0.71417	0.991000	0.47740	0.992000	0.81027	7.590000	0.82653	2.704000	0.92352	0.484000	0.47621	ACG		0.572	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	0	NM_017449		1:23110922
PCDHB13	56123	broad.mit.edu	37	5	140595334	140595334	+	Missense_Mutation	SNP	G	G	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:140595334G>C	ENST00000341948.4	+	1	1826	c.1639G>C	c.(1639-1641)Gtg>Ctg	p.V547L		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	547	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGGCGCTGGTGCGCGTGGT	0.711																																						ENST00000341948.4		NA																	0				NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66						c.(1639-1641)Gtg>Ctg									36.0	42.0	40.0					5																	140595334		2202	4298	6500	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140595334G>C	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1639G>C	5.37:g.140595334G>C	ENSP00000345491:p.Val547Leu	False	False		Somatic	0					p.V547L	NM_018933.2	NP_061756.1	WXS	Illumina HiSeq	Phase_I	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1826	+			547			Cadherin 5.		A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	c.1639G>C	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	-	14.98	2.697594	0.48307	.	.	ENSG00000187372	ENST00000341948;ENST00000430318	T	0.57107	0.42	3.0	1.08	0.20341	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.57475	0.2056	L	0.60012	1.86	0.27453	N	0.953362	D	0.65815	0.995	P	0.59012	0.85	T	0.48758	-0.9007	9	0.23891	T	0.37	.	6.7901	0.23695	0.1012:0.3395:0.5593:0.0	.	547	Q9Y5F0	PCDBD_HUMAN	L	547	ENSP00000345491:V547L	ENSP00000345491:V547L	V	+	1	0	PCDHB13	140575518	0.984000	0.35163	0.014000	0.15608	0.002000	0.02628	2.074000	0.41529	0.106000	0.17784	-0.535000	0.04281	GTG		0.711	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	0	NM_018933		5:140595334
GGT1	2678	broad.mit.edu	37	22	25016461	25016461	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr22:25016461C>T	ENST00000400382.1	+	8	1304	c.549C>T	c.(547-549)acC>acT	p.T183T	GGT1_ENST00000248923.4_Silent_p.T183T|GGT1_ENST00000400383.1_Silent_p.T183T|GGT1_ENST00000400380.1_Silent_p.T183T|GGT1_ENST00000406383.2_Silent_p.T183T|GGT1_ENST00000466310.1_3'UTR			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	183					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	ACAAGCGGACCGTCATCGAGC	0.677																																						ENST00000400382.1		NA																	0				breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40						c.(547-549)acC>acT		gamma-glutamyltransferase 1	Glutathione(DB00143)						22.0	25.0	24.0					22																	25016461		1899	4082	5981	SO:0001819	synonymous_variant	2678				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding	g.chr22:25016461C>T	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.549C>T	22.37:g.25016461C>T		False	False		Somatic	0				GGT1_ENST00000400380.1_Silent_p.T183T|GGT1_ENST00000248923.4_Silent_p.T183T|GGT1_ENST00000406383.2_Silent_p.T183T|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000400383.1_Silent_p.T183T	p.T183T			WXS	Illumina HiSeq	Phase_I	P19440	GGT1_HUMAN			8	1304	+			183					Q08247|Q14404|Q8TBS1|Q9UMK1	Silent	SNP	ENST00000400382.1	37	c.549C>T	CCDS42992.1																																																																																				0.677	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	0	NM_013430		22:25016461
TIGD5	84948	broad.mit.edu	37	8	144681830	144681830	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr8:144681830C>T	ENST00000504548.2	+	1	1757	c.1757C>T	c.(1756-1758)cCg>cTg	p.P586L	EEF1D_ENST00000529272.1_5'Flank|EEF1D_ENST00000423316.2_5'Flank|EEF1D_ENST00000531621.1_5'Flank|EEF1D_ENST00000419152.2_5'Flank|EEF1D_ENST00000526838.1_5'Flank|EEF1D_ENST00000442189.2_5'Flank|EEF1D_ENST00000524624.1_5'Flank|EEF1D_ENST00000395119.3_5'Flank|EEF1D_ENST00000528610.1_5'Flank|TIGD5_ENST00000321385.3_Missense_Mutation_p.P537L|EEF1D_ENST00000531770.1_5'Flank|EEF1D_ENST00000317198.6_5'Flank|RP11-661A12.14_ENST00000606452.1_lincRNA|EEF1D_ENST00000532400.1_5'Flank	NM_032862.4	NP_116251.4	Q53EQ6	TIGD5_HUMAN	tigger transposable element derived 5	586						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			ACCTCAGTGCCGACTGCCGGG	0.706																																						ENST00000504548.2		NA																	0				NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7						c.(1756-1758)cCg>cTg		tigger transposable element derived 5							14.0	16.0	15.0					8																	144681830		2174	4283	6457	SO:0001583	missense	84948				regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding	g.chr8:144681830C>T	AK027832	CCDS6406.1, CCDS6406.2	8q24.3	2008-02-01				ENSG00000179886			18336	protein-coding gene	gene with protein product							Standard	NM_032862		Approved	FLJ14926	uc003yyx.2	Q53EQ6		ENST00000504548.2:c.1757C>T	8.37:g.144681830C>T	ENSP00000421489:p.Pro586Leu	False	False		Somatic	0				TIGD5_ENST00000321385.3_Missense_Mutation_p.P537L	p.P586L	NM_032862.4	NP_116251.4	WXS	Illumina HiSeq	Phase_I	E7EWS2	E7EWS2_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		1	1757	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		586					E7EWS2|Q6NT83|Q8N5A1|Q96JW8	Missense_Mutation	SNP	ENST00000504548.2	37	c.1757C>T	CCDS6406.2	.	.	.	.	.	.	.	.	.	.	C	13.95	2.391218	0.42410	.	.	ENSG00000179886	ENST00000504548;ENST00000321385	T;T	0.51071	0.72;0.76	4.98	4.98	0.66077	.	0.000000	0.45867	U	0.000334	T	0.54240	0.1846	L	0.29908	0.895	0.49130	D	0.999754	D	0.89917	1.0	D	0.87578	0.998	T	0.43637	-0.9379	10	0.08837	T	0.75	.	17.2517	0.87044	0.0:1.0:0.0:0.0	.	537	Q53EQ6	TIGD5_HUMAN	L	586;537	ENSP00000421489:P586L;ENSP00000315906:P537L	ENSP00000315906:P537L	P	+	2	0	TIGD5	144752973	1.000000	0.71417	0.317000	0.25265	0.108000	0.19459	5.792000	0.69052	2.301000	0.77427	0.655000	0.94253	CCG		0.706	TIGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368269.1	0	NM_032862		8:144681830
PFKFB3	5209	broad.mit.edu	37	10	6264820	6264820	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr10:6264820C>T	ENST00000379775.4	+	11	1416	c.1086C>T	c.(1084-1086)tcC>tcT	p.S362S	PFKFB3_ENST00000379789.4_Silent_p.S342S|PFKFB3_ENST00000360521.2_Silent_p.S362S|PFKFB3_ENST00000379785.1_Silent_p.S362S|PFKFB3_ENST00000540253.1_Silent_p.S376S|PFKFB3_ENST00000317350.4_Silent_p.S362S|PFKFB3_ENST00000536985.1_Intron|PFKFB3_ENST00000379782.3_Silent_p.S362S	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	362	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						GTGCTCAGTCCTACCAGGACC	0.667																																						ENST00000379775.4		NA																	0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						c.(1084-1086)tcC>tcT		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3							50.0	39.0	43.0					10																	6264820		2203	4300	6503	SO:0001819	synonymous_variant	5209				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chr10:6264820C>T		CCDS7078.1, CCDS44353.1, CCDS60479.1	10p15.1	2008-05-14			ENSG00000170525	ENSG00000170525			8874	protein-coding gene	gene with protein product		605319				9146922, 10072580	Standard	NM_004566		Approved		uc001ije.3	Q16875	OTTHUMG00000017621	ENST00000379775.4:c.1086C>T	10.37:g.6264820C>T		False	False		Somatic	0				PFKFB3_ENST00000540253.1_Silent_p.S376S|PFKFB3_ENST00000379789.4_Silent_p.S342S|PFKFB3_ENST00000360521.2_Silent_p.S362S|PFKFB3_ENST00000536985.1_Intron|PFKFB3_ENST00000379785.1_Silent_p.S362S|PFKFB3_ENST00000317350.4_Silent_p.S362S|PFKFB3_ENST00000379782.3_Silent_p.S362S	p.S362S	NM_004566.3	NP_004557.1	WXS	Illumina HiSeq	Phase_I	Q16875	F263_HUMAN			11	1416	+			362			Fructose-2,6-bisphosphatase.		B7Z955|O43622|O75902|Q5VX15|Q5VX18|Q5VX19	Silent	SNP	ENST00000379775.4	37	c.1086C>T	CCDS7078.1																																																																																				0.667	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046647.1	0			10:6264820
RYR1	6261	broad.mit.edu	37	19	38966037	38966037	+	Missense_Mutation	SNP	G	G	A	rs376330174		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:38966037G>A	ENST00000359596.3	+	29	4240	c.4240G>A	c.(4240-4242)Gtg>Atg	p.V1414M	RYR1_ENST00000355481.4_Missense_Mutation_p.V1414M|RYR1_ENST00000360985.3_Missense_Mutation_p.V1414M			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1414	6 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CCCTCACGACGTGGTGCCTGC	0.612																																						ENST00000355481.4		NA																	0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(4240-4242)Gtg>Atg		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)	G	MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	54.0	44.0	47.0		4240,4240	5.1	0.9	19		47	0,8600		0,0,4300	no	missense,missense	RYR1	NM_000540.2,NM_001042723.1	21,21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	1414/5039,1414/5034	38966037	1,13005	2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38966037G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.4240G>A	19.37:g.38966037G>A	ENSP00000352608:p.Val1414Met	False	False		Somatic	0				RYR1_ENST00000360985.3_Missense_Mutation_p.V1414M|RYR1_ENST00000359596.3_Missense_Mutation_p.V1414M	p.V1414M	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	WXS	Illumina HiSeq	Phase_I	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		29	4371	+	all_cancers(60;7.91e-06)		1414			6 X approximate repeats.|B30.2/SPRY 3.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.4240G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.056305	0.36277	2.27E-4	0.0	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97378	-4.36;-4.36;-4.36	5.12	5.12	0.69794	B30.2/SPRY domain (1);	0.000000	0.64402	U	0.000014	D	0.98012	0.9345	M	0.72118	2.19	0.42879	D	0.994168	D;D	0.89917	1.0;0.998	D;P	0.68192	0.956;0.851	D	0.98185	1.0459	10	0.40728	T	0.16	.	17.3403	0.87293	0.0:0.0:1.0:0.0	.	1414;1414	P21817-2;P21817	.;RYR1_HUMAN	M	1414	ENSP00000352608:V1414M;ENSP00000347667:V1414M;ENSP00000354254:V1414M	ENSP00000347667:V1414M	V	+	1	0	RYR1	43657877	1.000000	0.71417	0.894000	0.35097	0.039000	0.13416	5.869000	0.69613	2.388000	0.81334	0.462000	0.41574	GTG		0.612	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1	0			19:38966037
OR8G5	219865	broad.mit.edu	37	11	124135465	124135465	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:124135465C>T	ENST00000524943.2	+	1	743	c.743C>T	c.(742-744)aCc>aTc	p.T248I	OR8G1_ENST00000341493.2_RNA	NM_001005198.1	NP_001005198.1	Q8NG78	OR8G5_HUMAN	olfactory receptor, family 8, subfamily G, member 5	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0523)		CCCAGCCTGACCATCCTCAGC	0.448																																					Ovarian(169;523 1969 8640 31295 51256)	ENST00000524943.2		NA																	0					NA						c.(742-744)aCc>aTc		olfactory receptor, family 8, subfamily G, member 5							132.0	132.0	132.0					11																	124135465		2157	4271	6428	SO:0001583	missense	219865							g.chr11:124135465C>T	BK004516	CCDS66256.1	11q24.1	2014-04-17		2004-03-10	ENSG00000255298	ENSG00000255298		"""GPCR / Class A : Olfactory receptors"""	19622	protein-coding gene	gene with protein product				OR8G5P, OR8G6			Standard	NM_001005198		Approved			Q8NG78	OTTHUMG00000186059	ENST00000524943.2:c.743C>T	11.37:g.124135465C>T	ENSP00000477014:p.Thr248Ile	False	False		Somatic	0				OR8G1_ENST00000341493.2_RNA	p.T248I	NM_001005198.1	NP_001005198.1	WXS	Illumina HiSeq	Phase_I				BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0523)	1	743	+		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	NA					B2RND3|Q6IEU6	Missense_Mutation	SNP	ENST00000524943.2	37	c.743C>T																																																																																					0.448	OR8G5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000387283.2	0	NM_001005198		11:124135465
STEAP4	79689	broad.mit.edu	37	7	87912452	87912452	+	Missense_Mutation	SNP	T	T	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:87912452T>A	ENST00000380079.4	-	3	589	c.488A>T	c.(487-489)aAg>aTg	p.K163M	AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.K163M|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000301959.5_Intron	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	163					copper ion import (GO:0015677)|fat cell differentiation (GO:0045444)|ferric iron import into cell (GO:0097461)|iron ion homeostasis (GO:0055072)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					CACTCTTTGCTTGGCTTTGCT	0.358																																						ENST00000380079.4		NA																	0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15						c.(487-489)aAg>aTg		STEAP family member 4							81.0	77.0	78.0					7																	87912452		1897	4119	6016	SO:0001583	missense	79689				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:87912452T>A	AK026806	CCDS43611.1, CCDS56494.1	7q21.13	2014-01-28	2005-06-15	2005-06-15	ENSG00000127954	ENSG00000127954			21923	protein-coding gene	gene with protein product		611098	"""tumor necrosis factor, alpha-induced protein 9"""	TNFAIP9		11443137, 15897894	Standard	NM_024636		Approved	FLJ23153, TIARP, STAMP2	uc003ujs.3	Q687X5	OTTHUMG00000153853	ENST00000380079.4:c.488A>T	7.37:g.87912452T>A	ENSP00000369419:p.Lys163Met	False	False		Somatic	0				STEAP4_ENST00000301959.5_Intron|STEAP4_ENST00000414498.1_Missense_Mutation_p.K163M|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000595121.1_RNA	p.K163M	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	WXS	Illumina HiSeq	Phase_I	Q687X5	STEA4_HUMAN			3	589	-	Esophageal squamous(14;0.00802)		163					Q658Q9|Q687X4|Q8WWB0|Q9H5R1	Missense_Mutation	SNP	ENST00000380079.4	37	c.488A>T	CCDS43611.1	.	.	.	.	.	.	.	.	.	.	T	17.21	3.332548	0.60853	.	.	ENSG00000127954	ENST00000380079;ENST00000414498	T;T	0.19394	2.15;2.15	5.98	5.98	0.97165	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.61123	0.2322	H	0.97874	4.095	0.48975	D	0.999738	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.74025	-0.3797	10	0.72032	D	0.01	-10.2817	10.7574	0.46245	0.0:0.0705:0.0:0.9295	.	163;163	C9JS50;Q687X5	.;STEA4_HUMAN	M	163	ENSP00000369419:K163M;ENSP00000394399:K163M	ENSP00000369419:K163M	K	-	2	0	STEAP4	87750388	1.000000	0.71417	1.000000	0.80357	0.540000	0.34992	6.292000	0.72725	2.289000	0.77006	0.482000	0.46254	AAG		0.358	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332712.4	0	NM_024636		7:87912452
LRRC8D	55144	broad.mit.edu	37	1	90399492	90399492	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:90399492G>A	ENST00000337338.5	+	3	1272	c.865G>A	c.(865-867)Gag>Aag	p.E289K	LRRC8D_ENST00000394593.3_Missense_Mutation_p.E289K	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	289					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		AGCCCTGTTTGAGAAAGTGAG	0.408																																						ENST00000337338.5		NA																	0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29						c.(865-867)Gag>Aag		leucine rich repeat containing 8 family, member D							42.0	42.0	42.0					1																	90399492		2203	4300	6503	SO:0001583	missense	55144					integral to membrane	protein binding	g.chr1:90399492G>A	AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"""leucine rich repeat containing 5"""	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.865G>A	1.37:g.90399492G>A	ENSP00000338887:p.Glu289Lys	True	False		Somatic	0				LRRC8D_ENST00000394593.3_Missense_Mutation_p.E289K	p.E289K	NM_001134479.1	NP_001127951.1	WXS	Illumina HiSeq	Phase_I	Q7L1W4	LRC8D_HUMAN		all cancers(265;0.0109)|Epithelial(280;0.0427)	3	1272	+		all_lung(203;0.0894)|Lung NSC(277;0.227)	289					D3DT29|Q6UWB2|Q9NVW3	Missense_Mutation	SNP	ENST00000337338.5	37	c.865G>A	CCDS726.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419386	0.83559	.	.	ENSG00000171492	ENST00000337338;ENST00000394593	T;T	0.43688	0.94;0.94	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.62648	0.2445	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.60596	-0.7232	9	.	.	.	.	20.2422	0.98381	0.0:0.0:1.0:0.0	.	289	Q7L1W4	LRC8D_HUMAN	K	289	ENSP00000338887:E289K;ENSP00000378093:E289K	.	E	+	1	0	LRRC8D	90172080	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.782000	0.95742	0.655000	0.94253	GAG		0.408	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	0	NM_018103		1:90399492
FAM179B	23116	broad.mit.edu	37	14	45432083	45432083	+	Silent	SNP	G	G	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr14:45432083G>T	ENST00000361577.3	+	1	673	c.459G>T	c.(457-459)cgG>cgT	p.R153R	FAM179B_ENST00000382233.2_Silent_p.R153R|FAM179B_ENST00000361462.2_Silent_p.R153R|KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000553817.1_5'Flank|KLHL28_ENST00000396128.4_5'Flank	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	153										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						ATGAGAAGCGGCTCTGCTTGC	0.597																																						ENST00000361462.2		NA																	0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(457-459)cgG>cgT		family with sequence similarity 179, member B							76.0	85.0	82.0					14																	45432083		2202	4300	6502	SO:0001819	synonymous_variant	23116						binding	g.chr14:45432083G>T	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.459G>T	14.37:g.45432083G>T		False	False		Somatic	0				FAM179B_ENST00000382233.2_Silent_p.R153R|FAM179B_ENST00000361577.3_Silent_p.R153R	p.R153R			WXS	Illumina HiSeq	Phase_I	Q9Y4F4	F179B_HUMAN			1	642	+			153					Q68D66|Q6PG27	Silent	SNP	ENST00000361577.3	37	c.459G>T	CCDS9681.1																																																																																				0.597	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	0	XM_113781		14:45432083
C6	729	broad.mit.edu	37	5	41172372	41172372	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:41172372C>T	ENST00000263413.3	-	9	1510	c.1246G>A	c.(1246-1248)Gtg>Atg	p.V416M	C6_ENST00000337836.5_Missense_Mutation_p.V416M|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	416	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTATGTTCCACTTTTGTTTTC	0.433																																						ENST00000263413.3		NA																	0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(1246-1248)Gtg>Atg		complement component 6							303.0	246.0	265.0					5																	41172372		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41172372C>T	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1246G>A	5.37:g.41172372C>T	ENSP00000263413:p.Val416Met	True	False		Somatic	0				C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.V416M	p.V416M	NM_001115131.1	NP_001108603.2	WXS	Illumina HiSeq	Phase_I	P13671	CO6_HUMAN			9	1510	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	416			MACPF.			Missense_Mutation	SNP	ENST00000263413.3	37	c.1246G>A	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745778	0.69418	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	D;D	0.84146	-1.81;-1.81	5.04	4.16	0.48862	Membrane attack complex component/perforin (MACPF) domain (3);	0.379178	0.30820	N	0.008805	D	0.82958	0.5150	N	0.22421	0.69	0.30255	N	0.793737	P	0.52316	0.952	P	0.54924	0.764	T	0.80970	-0.1144	10	0.44086	T	0.13	-3.729	12.8785	0.58003	0.0:0.9193:0.0:0.0807	.	416	P13671	CO6_HUMAN	M	416	ENSP00000338861:V416M;ENSP00000263413:V416M	ENSP00000263413:V416M	V	-	1	0	C6	41208129	0.560000	0.26570	0.046000	0.18839	0.271000	0.26615	3.143000	0.50608	1.229000	0.43630	0.655000	0.94253	GTG		0.433	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1	0			5:41172372
PDE10A	10846	broad.mit.edu	37	6	165846554	165846554	+	Missense_Mutation	SNP	A	A	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:165846554A>T	ENST00000366882.1	-	8	725	c.571T>A	c.(571-573)Tta>Ata	p.L191I	PDE10A_ENST00000354448.4_Missense_Mutation_p.L191I|PDE10A_ENST00000539869.2_Missense_Mutation_p.L201I			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	191	GAF 1.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	ACAATTGGTAAGCAAAGAACA	0.443																																					Esophageal Squamous(22;308 615 5753 12038 40624)	ENST00000366882.1		NA																	0				breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(571-573)Tta>Ata		phosphodiesterase 10A	Dipyridamole(DB00975)						113.0	106.0	108.0					6																	165846554		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165846554A>T	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.571T>A	6.37:g.165846554A>T	ENSP00000355847:p.Leu191Ile	False	False		Somatic	0				PDE10A_ENST00000354448.4_Missense_Mutation_p.L191I|PDE10A_ENST00000539869.2_Missense_Mutation_p.L201I	p.L191I			WXS	Illumina HiSeq	Phase_I	Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	8	725	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	191			GAF 1.		Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.571T>A		.	.	.	.	.	.	.	.	.	.	A	15.16	2.750654	0.49257	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.66995	-0.24;-0.24	5.89	0.478	0.16789	GAF (2);	0.135179	0.51477	D	0.000093	T	0.60573	0.2279	L	0.42245	1.32	0.41174	D	0.986184	D;P	0.76494	0.999;0.551	D;B	0.80764	0.994;0.325	T	0.59873	-0.7372	10	0.40728	T	0.16	.	9.4315	0.38612	0.6971:0.0:0.3029:0.0	.	201;191	Q9ULW9;Q9Y233	.;PDE10_HUMAN	I	191;219;201;191;190	ENSP00000355847:L191I;ENSP00000346435:L191I	ENSP00000341187:L201I	L	-	1	2	PDE10A	165766544	1.000000	0.71417	0.774000	0.31636	0.982000	0.71751	1.261000	0.32980	-0.136000	0.11475	0.477000	0.44152	TTA		0.443	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1	0			6:165846554
H6PD	9563	broad.mit.edu	37	1	9323958	9323958	+	Missense_Mutation	SNP	G	G	A	rs113495544	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:9323958G>A	ENST00000377403.2	+	5	1708	c.1406G>A	c.(1405-1407)cGg>cAg	p.R469Q	H6PD_ENST00000602477.1_Missense_Mutation_p.R480Q	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	469	Glucose 1-dehydrogenase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		TTCCATGGCCGGAAGAATTTC	0.597													G|||	3	0.000599042	0.0	0.0	5008	,	,		19050	0.002		0.0	False		,,,				2504	0.001					ENST00000377403.2		NA																	0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(1405-1407)cGg>cAg		hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	NADH(DB00157)	G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	90.0	103.0	98.0		1406	3.7	0.5	1	dbSNP_132	98	0,8600		0,0,4300	yes	missense	H6PD	NM_004285.3	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	469/792	9323958	1,13005	2203	4300	6503	SO:0001583	missense	9563					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding	g.chr1:9323958G>A	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"""glucose dehyrogenase"""	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.1406G>A	1.37:g.9323958G>A	ENSP00000366620:p.Arg469Gln	False	False		Somatic	0				H6PD_ENST00000602477.1_Missense_Mutation_p.R480Q	p.R469Q	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	WXS	Illumina HiSeq	Phase_I	O95479	G6PE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	5	1708	+	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	469			Glucose 1-dehydrogenase.		Q4TT33|Q66I35|Q68DT3	Missense_Mutation	SNP	ENST00000377403.2	37	c.1406G>A	CCDS101.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	9.147	1.015316	0.19355	2.27E-4	0.0	ENSG00000049239	ENST00000377403	D	0.98207	-4.79	5.53	3.65	0.41850	.	0.309965	0.34002	N	0.004350	D	0.94305	0.8170	L	0.38175	1.15	0.33590	D	0.60101	B	0.30741	0.293	B	0.15052	0.012	D	0.94300	0.7536	10	0.28530	T	0.3	-23.6496	8.8895	0.35425	0.2291:0.0:0.7709:0.0	.	469	O95479	G6PE_HUMAN	Q	469	ENSP00000366620:R469Q	ENSP00000366620:R469Q	R	+	2	0	H6PD	9246545	0.961000	0.32948	0.509000	0.27700	0.417000	0.31264	1.618000	0.36954	1.339000	0.45563	0.561000	0.74099	CGG		0.597	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	0	NM_004285		1:9323958
CCDC18	343099	broad.mit.edu	37	1	93672863	93672863	+	Missense_Mutation	SNP	G	G	A	rs370124179		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:93672863G>A	ENST00000343253.7	+	9	1619	c.1117G>A	c.(1117-1119)Gca>Aca	p.A373T	CCDC18_ENST00000401026.3_Missense_Mutation_p.A373T|CCDC18_ENST00000557479.1_Missense_Mutation_p.A491T|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000338949.4_Missense_Mutation_p.A172T			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	373										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		CCGTGTTGCAGCACAGAATGA	0.343																																						ENST00000343253.7		NA																	0				breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(1117-1119)Gca>Aca		coiled-coil domain containing 18							80.0	75.0	77.0					1																	93672863		1840	4095	5935	SO:0001583	missense	343099							g.chr1:93672863G>A			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.1117G>A	1.37:g.93672863G>A	ENSP00000343377:p.Ala373Thr	False	False		Somatic	0				CCDC18_ENST00000401026.3_Missense_Mutation_p.A373T|CCDC18_ENST00000338949.4_Missense_Mutation_p.A172T|CCDC18_ENST00000557479.1_Missense_Mutation_p.A491T|CCDC18_ENST00000334652.5_5'UTR	p.A373T			WXS	Illumina HiSeq	Phase_I	Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	9	1619	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	373					Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	37	c.1117G>A		.	.	.	.	.	.	.	.	.	.	G	5.483	0.274139	0.10403	.	.	ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479;ENST00000338949;ENST00000455267	T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2	5.83	-2.1	0.07210	.	0.682955	0.15416	N	0.263495	T	0.02047	0.0064	N	0.03115	-0.41	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.42447	-0.9451	10	0.25106	T	0.35	.	4.4523	0.11626	0.2998:0.1308:0.4552:0.1142	.	373;491	Q5T9S5;G3V388	CCD18_HUMAN;.	T	373;373;491;172;93	ENSP00000343377:A373T;ENSP00000383808:A373T;ENSP00000451099:A491T;ENSP00000344380:A172T;ENSP00000391151:A93T	ENSP00000344380:A172T	A	+	1	0	CCDC18	93445451	0.853000	0.29707	0.953000	0.39169	0.831000	0.47069	-0.190000	0.09615	-0.659000	0.05359	-0.378000	0.06908	GCA		0.343	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	0	NM_206886		1:93672863
FOLH1B	219595	broad.mit.edu	37	11	89405142	89405142	+	RNA	SNP	C	C	T	rs3018757		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:89405142C>T	ENST00000532352.1	+	0	1082							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GTTCATGAAACTGTGAGGAGC	0.433																																						ENST00000532352.1		NA																	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B							208.0	185.0	193.0					11																	89405142		2201	4299	6500			219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89405142C>T	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89405142C>T		True	False		Somatic	0								WXS	Illumina HiSeq	Phase_I	Q9HBA9	FOH1B_HUMAN			0	1082	+			NA						RNA	SNP	ENST00000532352.1	37																																																																																						0.433	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	0	NM_153696		11:89405142
COPS6	10980	broad.mit.edu	37	7	99687011	99687011	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:99687011C>T	ENST00000303904.3	+	2	212	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C	COPS6_ENST00000418625.1_Missense_Mutation_p.R58C	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	59	MPN.				cullin deneddylation (GO:0010388)|viral process (GO:0016032)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GATCCGCATGCGCTCCCAGGA	0.597																																						ENST00000303904.3		NA																	0				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12						c.(175-177)Cgc>Tgc		COP9 signalosome subunit 6							118.0	117.0	117.0					7																	99687011		2203	4300	6503	SO:0001583	missense	10980				cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding	g.chr7:99687011C>T	BC002520	CCDS5682.1	7q22.1	2013-03-14	2013-03-14		ENSG00000168090	ENSG00000168090			21749	protein-coding gene	gene with protein product	"""COP9 subunit 6 (MOV34 homolog, 34 kD)"""	614729	"""COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis)"""			12477932	Standard	NM_006833		Approved	MOV34-34KD, CSN6	uc003usu.3	Q7L5N1	OTTHUMG00000154632	ENST00000303904.3:c.175C>T	7.37:g.99687011C>T	ENSP00000304102:p.Arg59Cys	False	False		Somatic	0				COPS6_ENST00000418625.1_Missense_Mutation_p.R58C	p.R59C	NM_006833.4	NP_006824.2	WXS	Illumina HiSeq	Phase_I	Q7L5N1	CSN6_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		2	212	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		59			MPN.		A4D2A3|O15387	Missense_Mutation	SNP	ENST00000303904.3	37	c.175C>T	CCDS5682.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.842569	0.91197	.	.	ENSG00000168090	ENST00000303904;ENST00000419210;ENST00000418625	T;T	0.55930	0.49;0.49	5.41	4.53	0.55603	.	0.062754	0.64402	N	0.000009	T	0.72334	0.3447	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.976	T	0.75246	-0.3385	10	0.72032	D	0.01	-24.1102	6.7007	0.23223	0.1762:0.7362:0.0:0.0876	.	59;59	B4DHR8;Q7L5N1	.;CSN6_HUMAN	C	59;29;58	ENSP00000304102:R59C;ENSP00000400617:R58C	ENSP00000304102:R59C	R	+	1	0	COPS6	99524947	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.114000	0.64648	1.521000	0.48983	0.655000	0.94253	CGC		0.597	COPS6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336412.3	0	NM_006833		7:99687011
SERPINE1	5054	broad.mit.edu	37	7	100773787	100773787	+	Silent	SNP	G	G	A	rs6091	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:100773787G>A	ENST00000223095.4	+	3	514	c.357G>A	c.(355-357)gcG>gcA	p.A119A	SERPINE1_ENST00000445463.2_Silent_p.A104A	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	119					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CCACAGACGCGATCTTCGTCC	0.597													G|||	4	0.000798722	0.0	0.0	5008	,	,		18529	0.001		0.001	False		,,,				2504	0.002					ENST00000223095.4		NA																	0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20						c.(355-357)gcG>gcA		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	G	,	2,4404	4.2+/-10.8	0,2,2201	196.0	178.0	184.0		357,312	4.6	1.0	7	dbSNP_52	184	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous,coding-synonymous	SERPINE1	NM_000602.3,NM_001165413.1	,	0,10,6493	AA,AG,GG		0.093,0.0454,0.0769	,	119/403,104/388	100773787	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	5054				angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr7:100773787G>A	M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"""Serine (or cysteine) peptidase inhibitors"""	8583	protein-coding gene	gene with protein product	"""plasminogen activator inhibitor, type I"""	173360	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"""	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.357G>A	7.37:g.100773787G>A		False	False		Somatic	0				SERPINE1_ENST00000445463.2_Silent_p.A104A	p.A119A	NM_000602.4	NP_000593.1	WXS	Illumina HiSeq	Phase_I	P05121	PAI1_HUMAN			3	514	+	Lung NSC(181;0.136)|all_lung(186;0.182)		119					B7Z4S0|F8WD53	Silent	SNP	ENST00000223095.4	37	c.357G>A	CCDS5711.1																																																																																				0.597	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	0	NM_000602		7:100773787
OR2A2	442361	broad.mit.edu	37	7	143807373	143807373	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:143807373G>A	ENST00000408979.2	+	1	767	c.698G>A	c.(697-699)cGc>cAc	p.R233H		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					AAGGAGGGCCGCATAAAGGCC	0.522																																						ENST00000408979.2		NA																	0				endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22						c.(697-699)cGc>cAc		olfactory receptor, family 2, subfamily A, member 2							104.0	108.0	107.0					7																	143807373		2071	4233	6304	SO:0001583	missense	442361				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143807373G>A		CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"""GPCR / Class A : Olfactory receptors"""	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.698G>A	7.37:g.143807373G>A	ENSP00000386209:p.Arg233His	False	False		Somatic	0					p.R233H	NM_001005480.2	NP_001005480.2	WXS	Illumina HiSeq	Phase_I	Q6IF42	OR2A2_HUMAN			1	767	+	Melanoma(164;0.0783)		233					B2RN85|Q8NGT6	Missense_Mutation	SNP	ENST00000408979.2	37	c.698G>A	CCDS43671.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.880455	0.33255	.	.	ENSG00000221989	ENST00000408979	T	0.00333	8.07	3.47	3.47	0.39725	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33327	U	0.005027	T	0.00524	0.0017	M	0.89904	3.07	0.09310	N	1	P	0.35821	0.523	B	0.40940	0.344	T	0.08027	-1.0742	10	0.72032	D	0.01	-4.2634	12.7847	0.57498	0.0:0.0:1.0:0.0	.	233	Q6IF42	OR2A2_HUMAN	H	233	ENSP00000386209:R233H	ENSP00000386209:R233H	R	+	2	0	OR2A2	143438306	0.000000	0.05858	0.365000	0.25901	0.643000	0.38383	0.412000	0.21131	1.938000	0.56188	0.511000	0.50034	CGC		0.522	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1	0			7:143807373
PROM2	150696	broad.mit.edu	37	2	95944852	95944852	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:95944852C>T	ENST00000317620.9	+	10	1367	c.1234C>T	c.(1234-1236)Cgc>Tgc	p.R412C	PROM2_ENST00000317668.4_Missense_Mutation_p.R412C|PROM2_ENST00000542147.1_Missense_Mutation_p.R412C|PROM2_ENST00000403131.2_Missense_Mutation_p.R412C	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	412					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GGAGAGCAGCCGCCCCTACCT	0.687																																						ENST00000317620.9		NA																	0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(1234-1236)Cgc>Tgc		prominin 2							19.0	20.0	19.0					2																	95944852		2200	4290	6490	SO:0001583	missense	150696					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		g.chr2:95944852C>T	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.1234C>T	2.37:g.95944852C>T	ENSP00000318270:p.Arg412Cys	False	False		Somatic	0				PROM2_ENST00000403131.2_Missense_Mutation_p.R412C|PROM2_ENST00000317668.4_Missense_Mutation_p.R412C|PROM2_ENST00000542147.1_Missense_Mutation_p.R412C	p.R412C	NM_001165978.1	NP_001159450.1	WXS	Illumina HiSeq	Phase_I	Q8N271	PROM2_HUMAN			10	1367	+			412					A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	ENST00000317620.9	37	c.1234C>T	CCDS2012.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595166	0.66219	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	4.94	4.01	0.46588	.	0.319686	0.26496	N	0.024057	T	0.63988	0.2558	M	0.76574	2.34	0.47698	D	0.999491	D	0.89917	1.0	D	0.65773	0.938	T	0.66578	-0.5888	10	0.59425	D	0.04	-25.1156	11.117	0.48266	0.1839:0.8161:0.0:0.0	.	412	Q8N271	PROM2_HUMAN	C	412	ENSP00000385716:R412C;ENSP00000318520:R412C;ENSP00000318270:R412C;ENSP00000442542:R412C	ENSP00000318270:R412C	R	+	1	0	PROM2	95308579	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	2.805000	0.47939	2.446000	0.82766	0.609000	0.83330	CGC		0.687	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	0	NM_144707		2:95944852
VTA1	51534	broad.mit.edu	37	6	142539725	142539725	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:142539725C>A	ENST00000367630.4	+	8	927	c.869C>A	c.(868-870)aCt>aAt	p.T290N	VTA1_ENST00000452973.2_Missense_Mutation_p.T205N|VTA1_ENST00000367621.1_Missense_Mutation_p.T232N	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	290	Interaction with VPS4B. {ECO:0000250}.				endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		GATGTAAGCACTGCTGTCCAG	0.438																																						ENST00000367630.4		NA																	0				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(868-870)aCt>aAt		vesicle (multivesicular body) trafficking 1							72.0	71.0	71.0					6																	142539725		2203	4299	6502	SO:0001583	missense	51534				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding	g.chr6:142539725C>A	AF060225	CCDS5197.1, CCDS69214.1, CCDS75531.1	6q24.1	2013-08-05	2013-08-05	2007-04-03	ENSG00000009844	ENSG00000009844			20954	protein-coding gene	gene with protein product		610902	"""chromosome 6 open reading frame 55"", ""Vps20-associated 1 homolog (S. cerevisiae)"""	C6orf55		11489251, 15644320	Standard	NM_001286372		Approved	HSPC228, My012	uc003qiw.3	Q9NP79	OTTHUMG00000015707	ENST00000367630.4:c.869C>A	6.37:g.142539725C>A	ENSP00000356602:p.Thr290Asn	False	False		Somatic	0				VTA1_ENST00000452973.2_Missense_Mutation_p.T205N|VTA1_ENST00000367621.1_Missense_Mutation_p.T232N	p.T290N	NM_016485.3	NP_057569.2	WXS	Illumina HiSeq	Phase_I	Q9NP79	VTA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)	8	927	+	Breast(32;0.155)		290			Interaction with VPS4B (By similarity).		B4DW55|E1P594|E7ETQ7|Q5TGM1|Q6IAE8|Q9H0R2|Q9H3K9|Q9P0Q0	Missense_Mutation	SNP	ENST00000367630.4	37	c.869C>A	CCDS5197.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.959933	0.92791	.	.	ENSG00000009844	ENST00000367630;ENST00000367621;ENST00000452973	T;T;T	0.56776	0.44;0.44;0.44	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.71986	0.3405	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.72849	-0.4168	10	0.59425	D	0.04	-18.7284	20.3311	0.98718	0.0:1.0:0.0:0.0	.	205;290	E7ETQ7;Q9NP79	.;VTA1_HUMAN	N	290;232;205	ENSP00000356602:T290N;ENSP00000356593:T232N;ENSP00000395767:T205N	ENSP00000356593:T232N	T	+	2	0	VTA1	142581418	1.000000	0.71417	0.998000	0.56505	0.937000	0.57800	7.395000	0.79876	2.803000	0.96430	0.650000	0.86243	ACT		0.438	VTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042483.2	0	NM_016485		6:142539725
NUP210L	91181	broad.mit.edu	37	1	154072575	154072575	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:154072575C>T	ENST00000368559.3	-	14	1935	c.1864G>A	c.(1864-1866)Gca>Aca	p.A622T	NUP210L_ENST00000271854.3_Missense_Mutation_p.A622T	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	622					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GATTTAGCTGCGATATGTGTA	0.443																																						ENST00000368559.3		NA																	0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(1864-1866)Gca>Aca		nucleoporin 210kDa-like							187.0	175.0	178.0					1																	154072575		1937	4152	6089	SO:0001583	missense	91181					integral to membrane		g.chr1:154072575C>T	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.1864G>A	1.37:g.154072575C>T	ENSP00000357547:p.Ala622Thr	False	False		Somatic	0				NUP210L_ENST00000271854.3_Missense_Mutation_p.A622T	p.A622T	NM_207308.2	NP_997191.2	WXS	Illumina HiSeq	Phase_I	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		14	1935	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		622					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.1864G>A	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	4.853	0.158628	0.09236	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.06218	3.6;3.33	5.15	2.21	0.28008	.	0.453697	0.20603	N	0.089102	T	0.01156	0.0038	L	0.28274	0.84	0.09310	N	1	B;B	0.14438	0.01;0.004	B;B	0.08055	0.003;0.002	T	0.47873	-0.9083	10	0.10902	T	0.67	-12.1311	8.7224	0.34449	0.0:0.7554:0.0:0.2446	.	622;622	E7EP56;Q5VU65	.;P210L_HUMAN	T	622	ENSP00000357547:A622T;ENSP00000271854:A622T	ENSP00000271854:A622T	A	-	1	0	NUP210L	152339199	0.001000	0.12720	0.255000	0.24374	0.110000	0.19582	0.689000	0.25437	0.547000	0.28938	0.462000	0.41574	GCA		0.443	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	0	NM_207308		1:154072575
RADIL	55698	broad.mit.edu	37	7	4876198	4876198	+	Missense_Mutation	SNP	C	C	T	rs552125019	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:4876198C>T	ENST00000399583.3	-	3	761	c.574G>A	c.(574-576)Gcg>Acg	p.A192T	RADIL_ENST00000536091.1_Missense_Mutation_p.A192T|RADIL_ENST00000538469.1_5'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	192					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GTTCCCTTCGCGCGACTCCGC	0.657													C|||	2	0.000399361	0.0008	0.0	5008	,	,		14062	0.0		0.0	False		,,,				2504	0.001					ENST00000399583.3		NA																	0				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(574-576)Gcg>Acg		Ras association and DIL domains							18.0	24.0	22.0					7																	4876198		1997	4148	6145	SO:0001583	missense	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4876198C>T	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.574G>A	7.37:g.4876198C>T	ENSP00000382492:p.Ala192Thr	True	False		Somatic	0				RADIL_ENST00000538469.1_5'UTR|RADIL_ENST00000536091.1_Missense_Mutation_p.A192T	p.A192T	NM_018059.4	NP_060529.4	WXS	Illumina HiSeq	Phase_I	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	3	761	-		Ovarian(82;0.0175)	192					A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	37	c.574G>A	CCDS43544.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.018145	0.54576	.	.	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000536091	T;T	0.24538	3.25;1.85	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.29321	0.0730	M	0.75447	2.3	0.43191	D	0.995025	D	0.52996	0.957	B	0.40534	0.332	T	0.20538	-1.0272	10	0.49607	T	0.09	-28.9768	12.2613	0.54652	0.0:0.8293:0.1707:0.0	.	192	Q96JH8	RADIL_HUMAN	T	192;166;192	ENSP00000382492:A192T;ENSP00000442533:A192T	ENSP00000320946:A166T	A	-	1	0	RADIL	4842724	0.997000	0.39634	0.951000	0.38953	0.111000	0.19643	3.783000	0.55409	2.123000	0.65237	0.462000	0.41574	GCG		0.657	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	0	NM_018059		7:4876198
FDXACB1	91893	broad.mit.edu	37	11	111746220	111746220	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:111746220C>A	ENST00000260257.4	-	5	1348	c.1301G>T	c.(1300-1302)aGc>aTc	p.S434I	ALG9_ENST00000524880.1_Intron|ALG9_ENST00000527377.1_Intron|FDXACB1_ENST00000542429.1_Missense_Mutation_p.S285I	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	434					phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA processing (GO:0008033)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						GACTAAACTGCTCAGCTTAGA	0.413																																						ENST00000260257.4		NA																	0				endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						c.(1300-1302)aGc>aTc		ferredoxin-fold anticodon binding domain containing 1							116.0	112.0	113.0					11																	111746220		1891	4133	6024	SO:0001583	missense	91893				phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding	g.chr11:111746220C>A		CCDS44729.1	11q23.1	2011-04-15			ENSG00000255561	ENSG00000255561			25110	protein-coding gene	gene with protein product	"""hypothetical protein BC006136"""						Standard	NR_038364		Approved	LOC91893, hCG_2033039	uc001pmc.4	Q9BRP7	OTTHUMG00000166795	ENST00000260257.4:c.1301G>T	11.37:g.111746220C>A	ENSP00000260257:p.Ser434Ile	False	False		Somatic	0				ALG9_ENST00000524880.1_Intron|ALG9_ENST00000527377.1_Intron|FDXACB1_ENST00000542429.1_Missense_Mutation_p.S285I	p.S434I	NM_138378.2	NP_612387.1	WXS	Illumina HiSeq	Phase_I	Q9BRP7	FDXA1_HUMAN			5	1348	-			434					A0PJW7|B4DUU2	Missense_Mutation	SNP	ENST00000260257.4	37	c.1301G>T	CCDS44729.1	.	.	.	.	.	.	.	.	.	.	C	8.055	0.766748	0.15983	.	.	ENSG00000255561	ENST00000260257;ENST00000542429;ENST00000528274	T;T;T	0.73152	0.29;-0.72;0.75	5.86	3.0	0.34707	.	0.412136	0.29486	N	0.012014	T	0.55289	0.1911	L	0.48642	1.525	0.09310	N	1	P	0.39216	0.664	B	0.31191	0.125	T	0.49466	-0.8937	10	0.42905	T	0.14	.	7.2435	0.26109	0.0:0.6412:0.1278:0.231	.	434	Q9BRP7	FDXA1_HUMAN	I	434;285;345	ENSP00000260257:S434I;ENSP00000441304:S285I;ENSP00000435572:S345I	ENSP00000260257:S434I	S	-	2	0	FDXACB1	111251430	0.000000	0.05858	0.005000	0.12908	0.016000	0.09150	0.173000	0.16724	0.821000	0.34540	0.655000	0.94253	AGC		0.413	FDXACB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391497.1	0	NM_138378		11:111746220
COL3A1	1281	broad.mit.edu	37	2	189859047	189859047	+	Nonsense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:189859047C>T	ENST00000304636.3	+	18	1452	c.1282C>T	c.(1282-1284)Cga>Tga	p.R428*	COL3A1_ENST00000317840.5_Nonsense_Mutation_p.R428*	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	428	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	TCCTGGACTGCGAGGTGGTGC	0.488																																						ENST00000304636.3		NA																	0				NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(1282-1284)Cga>Tga		collagen, type III, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						82.0	87.0	85.0					2																	189859047		2203	4300	6503	SO:0001587	stop_gained	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189859047C>T	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.1282C>T	2.37:g.189859047C>T	ENSP00000304408:p.Arg428*	False	False		Somatic	0				COL3A1_ENST00000317840.5_Nonsense_Mutation_p.R428*	p.R428*	NM_000090.3	NP_000081	WXS	Illumina HiSeq	Phase_I	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		18	1452	+			428			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Nonsense_Mutation	SNP	ENST00000304636.3	37	c.1282C>T	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	C	37	6.213619	0.97380	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	.	.	.	5.56	3.43	0.39272	.	0.000000	0.44483	D	0.000444	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	12.1295	0.53934	0.5667:0.4332:0.0:0.0	.	.	.	.	X	428	.	ENSP00000304408:R428X	R	+	1	2	COL3A1	189567292	1.000000	0.71417	0.958000	0.39756	0.963000	0.63663	4.471000	0.60182	1.432000	0.47375	0.655000	0.94253	CGA		0.488	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	0	NM_000090		2:189859047
RGS6	9628	broad.mit.edu	37	14	72939637	72939637	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr14:72939637C>T	ENST00000553530.1	+	9	801	c.594C>T	c.(592-594)gcC>gcT	p.A198A	RGS6_ENST00000556437.1_Silent_p.A198A|RGS6_ENST00000355512.6_Silent_p.A198A|RGS6_ENST00000343854.6_Silent_p.A198A|RGS6_ENST00000406236.4_Silent_p.A198A|RGS6_ENST00000554782.1_Silent_p.A59A|RGS6_ENST00000404301.2_Silent_p.A198A|RGS6_ENST00000434263.2_Silent_p.A129A|RGS6_ENST00000555571.1_Silent_p.A198A|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000407322.4_Silent_p.A198A|RGS6_ENST00000402788.2_Silent_p.A198A|RGS6_ENST00000553525.1_Silent_p.A198A	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	198					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		AAGAACGAGCCTTTTGGGATG	0.368																																					Ovarian(143;1926 2468 21071 48641)	ENST00000553530.1		NA																	0				endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(592-594)gcC>gcT		regulator of G-protein signaling 6							143.0	159.0	154.0					14																	72939637		2203	4300	6503	SO:0001819	synonymous_variant	9628				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr14:72939637C>T	AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"""Regulators of G-protein signaling"""	10002	protein-coding gene	gene with protein product		603894	"""regulator of G-protein signalling 6"""			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.594C>T	14.37:g.72939637C>T		True	False		Somatic	0				RGS6_ENST00000434263.2_Silent_p.A129A|RGS6_ENST00000343854.6_Silent_p.A198A|RGS6_ENST00000555571.1_Silent_p.A198A|RGS6_ENST00000407322.4_Silent_p.A198A|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000355512.6_Silent_p.A198A|RGS6_ENST00000404301.2_Silent_p.A198A|RGS6_ENST00000554782.1_Silent_p.A59A|RGS6_ENST00000556437.1_Silent_p.A198A|RGS6_ENST00000406236.4_Silent_p.A198A|RGS6_ENST00000402788.2_Silent_p.A198A|RGS6_ENST00000553525.1_Silent_p.A198A	p.A198A	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	WXS	Illumina HiSeq	Phase_I	P49758	RGS6_HUMAN		all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)	9	801	+			198					C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Silent	SNP	ENST00000553530.1	37	c.594C>T	CCDS9808.1																																																																																				0.368	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2	0			14:72939637
LRRC23	10233	broad.mit.edu	37	12	7016602	7016602	+	Missense_Mutation	SNP	T	T	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:7016602T>A	ENST00000007969.8	+	5	834	c.614T>A	c.(613-615)cTc>cAc	p.L205H	LRRC23_ENST00000443597.2_Missense_Mutation_p.L205H|LRRC23_ENST00000323702.5_Missense_Mutation_p.L205H|LRRC23_ENST00000433346.1_Missense_Mutation_p.L205H|LRRC23_ENST00000436789.1_Missense_Mutation_p.L205H|LRRC23_ENST00000429740.1_Intron	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	205										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						CTGAAGAACCTCTACCTGGTA	0.562																																						ENST00000007969.8		NA																	0				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						c.(613-615)cTc>cAc		leucine rich repeat containing 23							91.0	84.0	86.0					12																	7016602		2203	4300	6503	SO:0001583	missense	10233							g.chr12:7016602T>A	BC014450	CCDS8568.1, CCDS8569.1	12p13	2006-02-02			ENSG00000010626	ENSG00000010626			19138	protein-coding gene	gene with protein product						11830501, 11826754	Standard	NM_201650		Approved	B7, LRPB7	uc001qrp.3	Q53EV4	OTTHUMG00000156668	ENST00000007969.8:c.614T>A	12.37:g.7016602T>A	ENSP00000007969:p.Leu205His	False	False		Somatic	0				LRRC23_ENST00000323702.5_Missense_Mutation_p.L205H|LRRC23_ENST00000436789.1_Missense_Mutation_p.L205H|LRRC23_ENST00000429740.1_Intron|LRRC23_ENST00000433346.1_Missense_Mutation_p.L205H|LRRC23_ENST00000443597.2_Missense_Mutation_p.L205H	p.L205H	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	WXS	Illumina HiSeq	Phase_I	Q53EV4	LRC23_HUMAN			5	834	+			205					A8K8C6|D3DUT1|Q8N6K6|Q92977|Q99620	Missense_Mutation	SNP	ENST00000007969.8	37	c.614T>A	CCDS8569.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.325445	0.81580	.	.	ENSG00000010626	ENST00000433346;ENST00000007969;ENST00000323702;ENST00000443597;ENST00000436789	T;T;T;T;T	0.62364	0.59;0.03;0.37;0.03;1.11	5.59	5.59	0.84812	.	.	.	.	.	D	0.87398	0.6167	H	0.98542	4.26	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.92330	0.5873	9	0.87932	D	0	-12.7044	15.7619	0.78091	0.0:0.0:0.0:1.0	.	205;205;205;205;205	C9JEW3;A8K8K2;Q53EV4-2;Q53EV4;C9JKE8	.;.;.;LRC23_HUMAN;.	H	205	ENSP00000402554:L205H;ENSP00000007969:L205H;ENSP00000317464:L205H;ENSP00000390932:L205H;ENSP00000396049:L205H	ENSP00000007969:L205H	L	+	2	0	LRRC23	6886863	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.624000	0.74243	2.120000	0.65058	0.379000	0.24179	CTC		0.562	LRRC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345214.1	0	NM_006992		12:7016602
WWC3	55841	broad.mit.edu	37	X	10094325	10094325	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:10094325G>A	ENST00000380861.4	+	15	2476	c.2085G>A	c.(2083-2085)ccG>ccA	p.P695P	WWC3_ENST00000454666.1_Silent_p.P695P	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	695	C2.				negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CAGTGACTCCGCAGCTGCAGG	0.537																																						ENST00000380861.4		NA																	0				NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						c.(2083-2085)ccG>ccA		WWC family member 3							92.0	75.0	81.0					X																	10094325		2203	4300	6503	SO:0001819	synonymous_variant	55841							g.chrX:10094325G>A	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.2085G>A	X.37:g.10094325G>A		False	False		Somatic	0				WWC3_ENST00000454666.1_Silent_p.P695P	p.P695P	NM_015691.3	NP_056506.2	WXS	Illumina HiSeq	Phase_I	Q9ULE0	WWC3_HUMAN			15	2476	+			695			C2.		A8KA96|Q659C1|Q9BTQ1	Silent	SNP	ENST00000380861.4	37	c.2085G>A	CCDS14136.1																																																																																				0.537	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	0	NM_015691		X:10094325
HCN4	10021	broad.mit.edu	37	15	73635767	73635767	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:73635767G>A	ENST00000261917.3	-	2	2161	c.1168C>T	c.(1168-1170)Cgc>Tgc	p.R390C	RP11-272D12.1_ENST00000558742.1_RNA|RP11-272D12.1_ENST00000557981.1_RNA	NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	390					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.R390C(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CGGGAGAGGCGTAACAGGCGT	0.572																																						ENST00000261917.3		NA																	1	Substitution - Missense(1)	p.R390C(1)	endometrium(1)	NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(1168-1170)Cgc>Tgc		hyperpolarization activated cyclic nucleotide-gated potassium channel 4							76.0	60.0	65.0					15																	73635767		2198	4297	6495	SO:0001583	missense	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73635767G>A	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.1168C>T	15.37:g.73635767G>A	ENSP00000261917:p.Arg390Cys	False	False		Somatic	0					p.R390C	NM_005477.2	NP_005468.1	WXS	Illumina HiSeq	Phase_I	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	2	2161	-			390					Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	c.1168C>T	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.975976	0.53720	.	.	ENSG00000138622	ENST00000261917	D	0.98849	-5.18	5.34	4.41	0.53225	Ion transport (1);	.	.	.	.	D	0.99324	0.9763	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98829	1.0750	9	0.87932	D	0	.	13.62	0.62132	0.0:0.0:0.7195:0.2805	.	390	Q9Y3Q4	HCN4_HUMAN	C	390	ENSP00000261917:R390C	ENSP00000261917:R390C	R	-	1	0	HCN4	71422820	1.000000	0.71417	0.973000	0.42090	0.796000	0.44982	4.527000	0.60573	1.355000	0.45865	0.655000	0.94253	CGC		0.572	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	0	NM_005477		15:73635767
KCNIP3	30818	broad.mit.edu	37	2	96049770	96049770	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:96049770C>T	ENST00000295225.5	+	9	879	c.744C>T	c.(742-744)tcC>tcT	p.S248S	KCNIP3_ENST00000377181.2_3'UTR|KCNIP3_ENST00000468529.1_Silent_p.S222S|KCNIP3_ENST00000360990.3_Silent_p.S226S	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin	248	Interaction with KCND2. {ECO:0000250}.				apoptotic process (GO:0006915)|behavioral response to pain (GO:0048266)|intracellular protein transport (GO:0006886)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	axon terminus (GO:0043679)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|voltage-gated ion channel activity (GO:0005244)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		TCATGAGCTCCATGCAGCTGT	0.582																																						ENST00000295225.5		NA																	0				NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(742-744)tcC>tcT		Kv channel interacting protein 3, calsenilin							135.0	131.0	132.0					2																	96049770		2203	4300	6503	SO:0001819	synonymous_variant	30818				apoptosis|signal transduction|transcription, DNA-dependent	endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane	calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity	g.chr2:96049770C>T	AF199599	CCDS2013.1, CCDS33245.1	2q21.1	2013-01-10	2006-02-11	2006-02-11	ENSG00000115041	ENSG00000115041		"""EF-hand domain containing"""	15523	protein-coding gene	gene with protein product		604662	"""calsenilin, presenilin-binding protein, EF hand transcription factor"""	CSEN		9771752, 10078534	Standard	NM_013434		Approved	DREAM, KCHIP3, calsenilin	uc002sup.3	Q9Y2W7	OTTHUMG00000130392	ENST00000295225.5:c.744C>T	2.37:g.96049770C>T		False	False		Somatic	0				KCNIP3_ENST00000468529.1_Silent_p.S222S|KCNIP3_ENST00000360990.3_Silent_p.S226S|KCNIP3_ENST00000377181.2_3'UTR	p.S248S	NM_013434.4	NP_038462.1	WXS	Illumina HiSeq	Phase_I	Q9Y2W7	CSEN_HUMAN		READ - Rectum adenocarcinoma(193;0.13)	9	879	+			248			Interaction with KCND2 (By similarity).		H7BY46|Q3YAC3|Q3YAC4|Q53TJ5|Q96T40|Q9UJ84|Q9UJ85	Silent	SNP	ENST00000295225.5	37	c.744C>T	CCDS2013.1																																																																																				0.582	KCNIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252770.1	0	NM_013434		2:96049770
PRDM11	56981	broad.mit.edu	37	11	45246344	45246344	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:45246344C>T	ENST00000530656.1	+	7	1421	c.1421C>T	c.(1420-1422)cCc>cTc	p.P474L	PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000424263.2_Missense_Mutation_p.P440L|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000263765.4_Missense_Mutation_p.P474L			Q9NQV5	PRD11_HUMAN	PR domain containing 11	474							methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						CCTGAGCCCCCCGTATTGCCA	0.522																																					NSCLC(118;1511 1736 6472 36603 43224)	ENST00000263765.4		NA																	0				endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(1420-1422)cCc>cTc		PR domain containing 11							93.0	102.0	99.0					11																	45246344		2203	4299	6502	SO:0001583	missense	56981							g.chr11:45246344C>T	AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"""PR-domain containing protein 11"""						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.1421C>T	11.37:g.45246344C>T	ENSP00000435976:p.Pro474Leu	True	False		Somatic	0				CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000530656.1_Missense_Mutation_p.P474L|PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000424263.2_Missense_Mutation_p.P440L	p.P474L			WXS	Illumina HiSeq	Phase_I	Q9NQV5	PRD11_HUMAN			8	1670	+			474					Q8N9F1	Missense_Mutation	SNP	ENST00000530656.1	37	c.1421C>T		.	.	.	.	.	.	.	.	.	.	C	18.08	3.544382	0.65198	.	.	ENSG00000019485	ENST00000263765;ENST00000530656;ENST00000424263	T;T;T	0.31769	1.48;1.48;1.52	5.68	5.68	0.88126	.	0.104471	0.43110	D	0.000612	T	0.24275	0.0588	N	0.24115	0.695	0.37913	D	0.931428	B	0.26744	0.158	B	0.24848	0.056	T	0.11641	-1.0579	10	0.87932	D	0	-14.4702	15.2956	0.73906	0.0:0.8606:0.1394:0.0	.	474	Q9NQV5	PRD11_HUMAN	L	474;474;440	ENSP00000263765:P474L;ENSP00000435976:P474L;ENSP00000394314:P440L	ENSP00000263765:P474L	P	+	2	0	PRDM11	45202920	0.957000	0.32711	0.958000	0.39756	0.947000	0.59692	4.313000	0.59160	2.689000	0.91719	0.655000	0.94253	CCC		0.522	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	0	NM_020229		11:45246344
IGLC3	3539	broad.mit.edu	37	22	23248723	23248723	+	RNA	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr22:23248723C>T	ENST00000390325.2	+	0	212				IGLJ3_ENST00000390324.2_RNA			P0CG06	LAC3_HUMAN	immunoglobulin lambda constant 3 (Kern-Oz+ marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										CCAGCAGCTACCTGAGCCTGA	0.592																																						ENST00000390325.2		NA																	0					NA															120.0	110.0	113.0					22																	23248723		2201	4297	6498			0							g.chr22:23248723C>T	J00254		22q11.2	2012-02-08			ENSG00000211679	ENSG00000211679		"""Immunoglobulins / IGL locus"""	5857	other	immunoglobulin gene				IGLC			Standard	NG_000002		Approved			P0CG06	OTTHUMG00000151217		22.37:g.23248723C>T		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	212	+			NA					A0M8Q4|P80423	RNA	SNP	ENST00000390325.2	37																																																																																						0.592	IGLC3-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000321821.3	0	NG_000002		22:23248723
CKMT1B	1159	broad.mit.edu	37	15	43888718	43888718	+	Missense_Mutation	SNP	G	G	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:43888718G>C	ENST00000441322.1	+	6	1225	c.865G>C	c.(865-867)Ggc>Cgc	p.G289R	CKMT1B_ENST00000450086.2_Missense_Mutation_p.G248R|CKMT1B_ENST00000413657.2_Missense_Mutation_p.G152R|CKMT1B_ENST00000300283.6_Missense_Mutation_p.G289R			P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B	289	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			large_intestine(1)|lung(3)|skin(1)	5		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	ATTCTGCCGAGGCCTCAAAGA	0.443																																						ENST00000300283.6		NA																	0				large_intestine(1)|lung(3)|skin(1)	5						c.(865-867)Ggc>Cgc		creatine kinase, mitochondrial 1B	Creatine(DB00148)						93.0	105.0	101.0					15																	43888718		2148	4298	6446	SO:0001583	missense	1159				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr15:43888718G>C	AK094322, J04469	CCDS10097.1	15q15	2005-04-15		2005-04-15	ENSG00000237289	ENSG00000237289	2.7.3.2		1995	protein-coding gene	gene with protein product		123290	"""creatine kinase, mitochondrial 1 (ubiquitous)"""	CKMT, CKMT1			Standard	XM_005254150		Approved	UMTCK	uc001zsc.3	P12532	OTTHUMG00000059900	ENST00000441322.1:c.865G>C	15.37:g.43888718G>C	ENSP00000413255:p.Gly289Arg	False	False		Somatic	0				CKMT1B_ENST00000450086.2_Missense_Mutation_p.G248R|CKMT1B_ENST00000413657.2_Missense_Mutation_p.G152R|CKMT1B_ENST00000441322.1_Missense_Mutation_p.G289R	p.G289R	NM_020990.3	NP_066270.1	WXS	Illumina HiSeq	Phase_I	P12532	KCRU_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	7	1257	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	289			Phosphagen kinase C-terminal.		B4DIT8|B7ZA09|Q0VAM3|Q32NF6|Q53FC4	Missense_Mutation	SNP	ENST00000441322.1	37	c.865G>C	CCDS10097.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918262	0.73098	.	.	ENSG00000237289	ENST00000300283;ENST00000450086;ENST00000441322;ENST00000413657;ENST00000438947	T;T;T;T	0.12672	2.66;2.66;2.66;2.66	4.49	4.49	0.54785	ATP:guanido phosphotransferase, catalytic domain (2);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.045722	0.85682	D	0.000000	T	0.51381	0.1671	H	0.95645	3.7	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.999;1.0;0.999;0.999;0.997;1.0	T	0.68746	-0.5327	10	0.87932	D	0	-1.777	17.7765	0.88510	0.0:0.0:1.0:0.0	.	289;248;248;227;320;130;289	F8WCN3;E9PCP8;B4DH34;B4DGR9;P12532-2;B4DJW9;P12532	.;.;.;.;.;.;KCRU_HUMAN	R	289;248;289;152;322	ENSP00000300283:G289R;ENSP00000389267:G248R;ENSP00000413255:G289R;ENSP00000390428:G152R	ENSP00000300283:G289R	G	+	1	0	CKMT1B	41676010	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	9.642000	0.98461	2.485000	0.83878	0.485000	0.47835	GGC		0.443	CKMT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133147.2	0	NM_020990		15:43888718
CENPE	1062	broad.mit.edu	37	4	104104440	104104440	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:104104440G>A	ENST00000265148.3	-	10	840	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W	CENPE_ENST00000380026.3_Missense_Mutation_p.R251W|CENPE_ENST00000509120.1_5'Flank	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	251	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCCTTGAGCCGCACACCTGAA	0.333																																						ENST00000265148.3		NA																	0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(751-753)Cgg>Tgg		centromere protein E, 312kDa							99.0	96.0	97.0					4																	104104440		2203	4300	6503	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104104440G>A	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.751C>T	4.37:g.104104440G>A	ENSP00000265148:p.Arg251Trp	False	False		Somatic	0				CENPE_ENST00000380026.3_Missense_Mutation_p.R251W	p.R251W	NM_001813.2	NP_001804.2	WXS	Illumina HiSeq	Phase_I	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	10	840	-			251			Kinesin-motor.		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.751C>T	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187967	0.78789	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	T;T;T	0.77489	-1.1;-1.1;-1.1	5.09	4.23	0.50019	Kinesin, motor domain (4);	.	.	.	.	D	0.92071	0.7487	H	0.99011	4.4	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	D	0.93802	0.7102	9	0.87932	D	0	.	11.2566	0.49058	0.0839:0.0:0.9161:0.0	.	251;251	Q02224-3;Q02224	.;CENPE_HUMAN	W	251	ENSP00000265148:R251W;ENSP00000369365:R251W;ENSP00000423981:R251W	ENSP00000265148:R251W	R	-	1	2	CENPE	104323889	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	3.989000	0.56958	2.347000	0.79759	0.650000	0.86243	CGG		0.333	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0			4:104104440
ATP5SL	55101	broad.mit.edu	37	19	41944258	41944258	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:41944258G>A	ENST00000221943.9	-	2	85	c.80C>T	c.(79-81)gCg>gTg	p.A27V	ATP5SL_ENST00000301183.11_Missense_Mutation_p.A33V|ATP5SL_ENST00000597457.1_Missense_Mutation_p.A27V|ATP5SL_ENST00000590641.2_Missense_Mutation_p.A33V|ATP5SL_ENST00000595425.1_Missense_Mutation_p.A27V|ATP5SL_ENST00000438807.3_Missense_Mutation_p.A27V|ATP5SL_ENST00000592922.2_Missense_Mutation_p.A27V|ATP5SL_ENST00000589970.1_Missense_Mutation_p.A27V|ATP5SL_ENST00000417807.3_Missense_Mutation_p.A33V	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN	ATP5S-like	27						mitochondrion (GO:0005739)				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						GGCCACTGCCGCACCCAGGCG	0.587																																						ENST00000221943.9		NA																	0				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						c.(79-81)gCg>gTg		ATP5S-like							92.0	83.0	86.0					19																	41944258		2203	4300	6503	SO:0001583	missense	55101							g.chr19:41944258G>A	AK001103	CCDS33032.1, CCDS54269.1, CCDS54270.1, CCDS54271.1, CCDS59389.1, CCDS59390.1	19q13.2	2007-12-13				ENSG00000105341			25496	protein-coding gene	gene with protein product						12477932	Standard	NM_001167867		Approved	FLJ10241	uc002oqv.3	Q9NW81		ENST00000221943.9:c.80C>T	19.37:g.41944258G>A	ENSP00000221943:p.Ala27Val	False	False		Somatic	0				ATP5SL_ENST00000301183.11_Missense_Mutation_p.A33V|ATP5SL_ENST00000417807.3_Missense_Mutation_p.A33V|ATP5SL_ENST00000589970.1_Missense_Mutation_p.A27V|ATP5SL_ENST00000590641.2_Missense_Mutation_p.A33V|ATP5SL_ENST00000595425.1_Missense_Mutation_p.A27V|ATP5SL_ENST00000597457.1_Missense_Mutation_p.A27V|ATP5SL_ENST00000592922.2_Missense_Mutation_p.A27V|ATP5SL_ENST00000438807.3_Missense_Mutation_p.A27V	p.A27V	NM_018035.2	NP_060505.2	WXS	Illumina HiSeq	Phase_I	Q9NW81	AT5SL_HUMAN			2	85	-			27					B4DDC0|B4DMZ4|B4DP55|B4DXE8|F5H4W7|K7EMF6|Q96D43	Missense_Mutation	SNP	ENST00000221943.9	37	c.80C>T	CCDS33032.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383695	0.61845	.	.	ENSG00000105341	ENST00000221943;ENST00000438807;ENST00000417807;ENST00000301183;ENST00000507129	T;T;T;T	0.24723	3.07;1.86;3.05;1.84	3.35	1.13	0.20643	.	0.571779	0.16030	N	0.232930	T	0.07908	0.0198	N	0.02539	-0.55	0.09310	N	1	B;B;B;B;B;B;B	0.27765	0.002;0.087;0.087;0.087;0.02;0.188;0.188	B;B;B;B;B;B;B	0.23419	0.008;0.012;0.012;0.012;0.019;0.046;0.046	T	0.28267	-1.0049	10	0.27082	T	0.32	-9.849	3.8708	0.09036	0.0:0.5652:0.2008:0.234	.	33;33;27;27;27;27;33	B4DFT4;B4DDC0;Q9NW81-2;B4DMZ4;E9PDC6;Q9NW81;F5H4W7	.;.;.;.;.;AT5SL_HUMAN;.	V	27;27;33;33;103	ENSP00000221943:A27V;ENSP00000397413:A27V;ENSP00000403910:A33V;ENSP00000301183:A33V	ENSP00000221943:A27V	A	-	2	0	ATP5SL	46636098	0.002000	0.14202	0.001000	0.08648	0.015000	0.08874	0.066000	0.14489	0.076000	0.16826	-0.120000	0.15030	GCG		0.587	ATP5SL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460602.1	0	NM_018035		19:41944258
MIR518F	574472	broad.mit.edu	37	19	54200806	54200806	+	RNA	SNP	G	G	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:54200806G>C	ENST00000384973.1	+	0	0				MIR519B_ENST00000385090.1_RNA|MIR525_ENST00000384978.1_RNA|MIR523_ENST00000385281.1_RNA	NR_030194.1				microRNA 518f																		TGACTCTCCAGAGGGATGCAC	0.423																																						ENST00000384978.1		NA																	0					NA															96.0	93.0	94.0					19																	54200806		1568	3582	5150			0							g.chr19:54200806G>C			19q13.42	2011-09-12		2008-12-18	ENSG00000207706	ENSG00000207706		"""ncRNAs / Micro RNAs"""	32104	non-coding RNA	RNA, micro				MIRN518F			Standard	NR_030194		Approved	hsa-mir-518f	uc021uzx.1				19.37:g.54200806G>C		False	False		Somatic	0						NR_030192.1		WXS	Illumina HiSeq	Phase_I					0	20	+			NA						RNA	SNP	ENST00000384973.1	37																																																																																						0.423	MIR518F-201	KNOWN	basic	miRNA	miRNA		0	NR_030194		19:54200806
TMEM175	84286	broad.mit.edu	37	4	952216	952216	+	Missense_Mutation	SNP	G	G	A	rs201137093	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:952216G>A	ENST00000264771.4	+	11	1632	c.1447G>A	c.(1447-1449)Gaa>Aaa	p.E483K	TMEM175_ENST00000515740.1_Missense_Mutation_p.E367K|TMEM175_ENST00000508204.1_Missense_Mutation_p.E401K	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	483						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGCCCGGCCCGAACACCCCCC	0.741													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		12536	0.0		0.0	False		,,,				2504	0.0					ENST00000264771.4		NA																	0				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14						c.(1447-1449)Gaa>Aaa		transmembrane protein 175		G	LYS/GLU	10,4242		0,10,2116	8.0	10.0	9.0		1447	0.0	0.0	4		9	1,8277		0,1,4138	no	missense	TMEM175	NM_032326.2	56	0,11,6254	AA,AG,GG		0.0121,0.2352,0.0878	benign	483/505	952216	11,12519	2126	4139	6265	SO:0001583	missense	84286					integral to membrane		g.chr4:952216G>A	BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.1447G>A	4.37:g.952216G>A	ENSP00000264771:p.Glu483Lys	True	False		Somatic	0				TMEM175_ENST00000508204.1_Missense_Mutation_p.E401K|TMEM175_ENST00000515740.1_Missense_Mutation_p.E367K	p.E483K	NM_032326.2	NP_115702.1	WXS	Illumina HiSeq	Phase_I	Q9BSA9	TM175_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		11	1632	+			483					D3DVN4|Q8ND13	Missense_Mutation	SNP	ENST00000264771.4	37	c.1447G>A	CCDS3341.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.977|1.977	-0.434967|-0.434967	0.04669|0.04669	0.002352|0.002352	1.21E-4|1.21E-4	ENSG00000127419|ENSG00000127419	ENST00000264771;ENST00000515740;ENST00000508204|ENST00000505148	T;T;T|.	0.44482|.	1.54;1.5;0.92|.	4.04|4.04	-0.00485|-0.00485	0.14020|0.14020	.|.	0.969423|.	0.08374|.	U|.	0.955581|.	T|T	0.10208|0.10208	0.0250|0.0250	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	B;B|.	0.20261|.	0.043;0.025|.	B;B|.	0.10450|.	0.005;0.005|.	T|T	0.31024|0.31024	-0.9958|-0.9958	10|5	0.11485|.	T|.	0.65|.	-1.1234|-1.1234	4.2497|4.2497	0.10689|0.10689	0.0927:0.4443:0.3119:0.1511|0.0927:0.4443:0.3119:0.1511	.|.	401;483|.	D3DVN5;Q9BSA9|.	.;TM175_HUMAN|.	K|Q	483;367;401|319	ENSP00000264771:E483K;ENSP00000427039:E367K;ENSP00000423669:E401K|.	ENSP00000264771:E483K|.	E|R	+|+	1|2	0|0	TMEM175|TMEM175	942216|942216	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.019000|0.019000	0.13444|0.13444	-0.154000|-0.154000	0.11118|0.11118	-0.440000|-0.440000	0.05779|0.05779	GAA|CGA		0.741	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	0	NM_032326		4:952216
TAF1L	138474	broad.mit.edu	37	9	32635334	32635334	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:32635334C>T	ENST00000242310.4	-	1	333	c.244G>A	c.(244-246)Gca>Aca	p.A82T	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	82					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCTTCATTTGCCGTGAGTTCA	0.517																																						ENST00000242310.4		NA																	0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(244-246)Gca>Aca		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							164.0	159.0	160.0					9																	32635334		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32635334C>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.244G>A	9.37:g.32635334C>T	ENSP00000418379:p.Ala82Thr	False	False		Somatic	0				RP11-555J4.4_ENST00000430787.1_RNA	p.A82T	NM_153809.2	NP_722516.1	WXS	Illumina HiSeq	Phase_I	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	333	-			82					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.244G>A	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807570	0.50421	.	.	ENSG00000122728	ENST00000242310	T	0.08458	3.09	1.04	1.04	0.20106	TAFII-230 TBP-binding (2);	0.117826	0.64402	D	0.000020	T	0.06416	0.0165	L	0.38531	1.155	0.45806	D	0.998682	B	0.27765	0.188	B	0.32928	0.155	T	0.36187	-0.9758	10	0.15499	T	0.54	.	7.4859	0.27432	0.0:1.0:0.0:0.0	.	82	Q8IZX4	TAF1L_HUMAN	T	82	ENSP00000418379:A82T	ENSP00000418379:A82T	A	-	1	0	TAF1L	32625334	1.000000	0.71417	0.753000	0.31225	0.120000	0.20174	4.633000	0.61318	0.507000	0.28148	0.195000	0.17529	GCA		0.517	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2	0			9:32635334
ATP12A	479	broad.mit.edu	37	13	25264838	25264838	+	Missense_Mutation	SNP	T	T	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr13:25264838T>A	ENST00000381946.3	+	7	945	c.778T>A	c.(778-780)Tat>Aat	p.Y260N	ATP12A_ENST00000218548.6_Missense_Mutation_p.Y260N			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	260					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		CATCTGCTTCTATTCCACAAC	0.547																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6		NA																	0				breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(778-780)Tat>Aat		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						164.0	179.0	174.0					13																	25264838		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25264838T>A	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.778T>A	13.37:g.25264838T>A	ENSP00000371372:p.Tyr260Asn	False	False		Somatic	0				ATP12A_ENST00000381946.3_Missense_Mutation_p.Y260N	p.Y260N	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	WXS	Illumina HiSeq	Phase_I	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	7	1111	+		Lung SC(185;0.0225)|Breast(139;0.077)	260					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.778T>A	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.861042	0.91433	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.90563	-2.69;-2.69	5.19	5.19	0.71726	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.085871	0.50627	D	0.000110	D	0.89670	0.6782	N	0.16266	0.395	0.58432	D	0.999999	D;D	0.62365	0.966;0.991	P;P	0.61533	0.876;0.89	D	0.91248	0.5027	10	0.87932	D	0	.	13.0401	0.58895	0.0:0.0:0.0:1.0	.	260;260	P54707-2;P54707	.;AT12A_HUMAN	N	260	ENSP00000218548:Y260N;ENSP00000371372:Y260N	ENSP00000218548:Y260N	Y	+	1	0	ATP12A	24162838	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	7.606000	0.82863	2.173000	0.68751	0.533000	0.62120	TAT		0.547	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	0	NM_001676		13:25264838
NCLN	56926	broad.mit.edu	37	19	3207651	3207651	+	Missense_Mutation	SNP	G	G	A	rs376816862		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:3207651G>A	ENST00000246117.4	+	15	2088	c.1657G>A	c.(1657-1659)Gtc>Atc	p.V553I	NCLN_ENST00000590671.1_Missense_Mutation_p.V479I|NCLN_ENST00000591062.1_3'UTR	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	553					regulation of signal transduction (GO:0009966)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		CTACAAGACCGTCCAGAGGCT	0.657																																						ENST00000246117.4		NA																	0				kidney(1)|lung(3)|skin(1)	5						c.(1657-1659)Gtc>Atc		nicalin		G	ILE/VAL	0,4406		0,0,2203	45.0	39.0	41.0		1657	3.6	0.9	19		41	1,8597	1.2+/-3.3	0,1,4298	no	missense	NCLN	NM_020170.3	29	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	553/564	3207651	1,13003	2203	4299	6502	SO:0001583	missense	56926				proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding	g.chr19:3207651G>A	BC025926	CCDS32869.1	19p13.3	2010-08-13	2010-08-13			ENSG00000125912			26923	protein-coding gene	gene with protein product	"""nicastrin-like protein"""	609156	"""nicalin homolog (zebrafish)"""			11230166	Standard	NM_020170		Approved	NICALIN, NET59	uc002lxi.3	Q969V3		ENST00000246117.4:c.1657G>A	19.37:g.3207651G>A	ENSP00000246117:p.Val553Ile	False	False		Somatic	0				NCLN_ENST00000590671.1_Missense_Mutation_p.V479I|NCLN_ENST00000591062.1_3'UTR	p.V553I	NM_020170.3	NP_064555.2	WXS	Illumina HiSeq	Phase_I	Q969V3	NCLN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)	15	2088	+		Hepatocellular(1079;0.137)	553					D6W613|O75252|Q6FI60|Q6ZMB7|Q8TAT7|Q96H48|Q96IS7|Q9BQH9|Q9BTX4|Q9NPP2	Missense_Mutation	SNP	ENST00000246117.4	37	c.1657G>A	CCDS32869.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.033711	0.35893	0.0	1.16E-4	ENSG00000125912	ENST00000246117	T	0.32988	1.43	3.61	3.61	0.41365	.	0.388892	0.23910	N	0.043345	T	0.14787	0.0357	N	0.14661	0.345	0.43287	D	0.99526	B;B	0.21821	0.061;0.036	B;B	0.17098	0.017;0.008	T	0.08953	-1.0697	10	0.17832	T	0.49	-16.7764	6.8208	0.23857	0.1277:0.0:0.8723:0.0	.	552;553	Q969V3-2;Q969V3	.;NCLN_HUMAN	I	553	ENSP00000246117:V553I	ENSP00000246117:V553I	V	+	1	0	NCLN	3158651	0.994000	0.37717	0.918000	0.36340	0.722000	0.41435	2.613000	0.46351	1.848000	0.53677	0.561000	0.74099	GTC		0.657	NCLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452545.1	0	NM_020170		19:3207651
CAND2	23066	broad.mit.edu	37	3	12858160	12858160	+	Nonsense_Mutation	SNP	C	C	T	rs372784797		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:12858160C>T	ENST00000456430.2	+	10	1770	c.1729C>T	c.(1729-1731)Cga>Tga	p.R577*	CAND2_ENST00000295989.5_Nonsense_Mutation_p.R484*	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	577					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CACCCTGGCGCGACTTCGTGC	0.642																																					GBM(43;676 868 1633 6395 37496)	ENST00000456430.2		NA																	0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1729-1731)Cga>Tga		cullin-associated and neddylation-dissociated 2 (putative)		C	stop/ARG,stop/ARG	0,4292		0,0,2146	44.0	52.0	49.0		1729,1450	3.1	0.6	3		49	1,8465		0,1,4232	no	stop-gained,stop-gained	CAND2	NM_001162499.1,NM_012298.2	,	0,1,6378	TT,TC,CC		0.0118,0.0,0.0078	,	577/1237,484/1120	12858160	1,12757	2146	4233	6379	SO:0001587	stop_gained	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12858160C>T		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.1729C>T	3.37:g.12858160C>T	ENSP00000387641:p.Arg577*	False	False		Somatic	0				CAND2_ENST00000295989.5_Nonsense_Mutation_p.R484*	p.R577*	NM_001162499.1	NP_001155971.1	WXS	Illumina HiSeq	Phase_I	O75155	CAND2_HUMAN			10	1770	+			577					B9EGM9|E9KL24	Nonsense_Mutation	SNP	ENST00000456430.2	37	c.1729C>T	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.428020	0.83667	0.0	1.18E-4	ENSG00000144712	ENST00000295989;ENST00000456430	.	.	.	5.12	3.12	0.35913	.	0.061071	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0891	10.3459	0.43906	0.5379:0.4621:0.0:0.0	.	.	.	.	X	484;577	.	ENSP00000295989:R484X	R	+	1	2	CAND2	12833160	0.261000	0.24063	0.649000	0.29536	0.195000	0.23768	0.832000	0.27490	1.153000	0.42468	-0.310000	0.09108	CGA		0.642	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	0	XM_371617		3:12858160
MYO5A	4644	broad.mit.edu	37	15	52676446	52676446	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:52676446C>T	ENST00000399231.3	-	15	2069	c.1826G>A	c.(1825-1827)cGc>cAc	p.R609H	MYO5A_ENST00000553916.1_Missense_Mutation_p.R609H|MYO5A_ENST00000399233.2_Missense_Mutation_p.R609H|MYO5A_ENST00000358212.6_Missense_Mutation_p.R609H|MYO5A_ENST00000356338.6_Missense_Mutation_p.R609H	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	609	Myosin motor.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)	p.R609H(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GAGGGGTGTGCGCCCTGAGGA	0.483																																						ENST00000399231.3		NA																	1	Substitution - Missense(1)	p.R609H(1)	endometrium(1)	breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(1825-1827)cGc>cAc		myosin VA (heavy chain 12, myoxin)							131.0	145.0	141.0					15																	52676446		2057	4201	6258	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52676446C>T		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.1826G>A	15.37:g.52676446C>T	ENSP00000382177:p.Arg609His	False	False		Somatic	0				MYO5A_ENST00000399233.2_Missense_Mutation_p.R609H|MYO5A_ENST00000356338.6_Missense_Mutation_p.R609H|MYO5A_ENST00000553916.1_Missense_Mutation_p.R609H|MYO5A_ENST00000358212.6_Missense_Mutation_p.R609H	p.R609H	NM_000259.3	NP_000250	WXS	Illumina HiSeq	Phase_I	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	15	2069	-			609			Myosin head-like.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.1826G>A	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309471	0.81247	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	D;D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26;-2.26	5.38	5.38	0.77491	Myosin head, motor domain (2);	0.117044	0.64402	D	0.000014	D	0.85159	0.5633	N	0.19112	0.55	0.80722	D	1	D;D	0.64830	0.969;0.994	P;P	0.51582	0.652;0.674	D	0.85884	0.1424	10	0.42905	T	0.14	.	19.122	0.93367	0.0:1.0:0.0:0.0	.	609;609	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	H	609;143;609;609;609;239;609	ENSP00000382177:R609H;ENSP00000382179:R609H;ENSP00000348693:R609H;ENSP00000350945:R609H;ENSP00000451109:R609H	ENSP00000348693:R609H	R	-	2	0	MYO5A	50463738	0.997000	0.39634	0.983000	0.44433	0.443000	0.32047	3.792000	0.55476	2.520000	0.84964	0.650000	0.86243	CGC		0.483	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	0	NM_000259		15:52676446
TRPA1	8989	broad.mit.edu	37	8	72981266	72981266	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr8:72981266C>T	ENST00000262209.4	-	3	643	c.436G>A	c.(436-438)Gtg>Atg	p.V146M		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	146					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ACCTTCATCACCTCATTATTC	0.542																																						ENST00000262209.4		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(436-438)Gtg>Atg		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)						208.0	219.0	215.0					8																	72981266		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72981266C>T	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.436G>A	8.37:g.72981266C>T	ENSP00000262209:p.Val146Met	False	False		Somatic	0					p.V146M	NM_007332.2	NP_015628.2	WXS	Illumina HiSeq	Phase_I	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		3	643	-			146					A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.436G>A	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.555713	0.27827	.	.	ENSG00000104321	ENST00000262209	T	0.67865	-0.29	5.74	0.553	0.17235	Ankyrin repeat-containing domain (4);	0.500993	0.22628	N	0.057618	T	0.43144	0.1234	L	0.27053	0.805	0.09310	N	1	B	0.27380	0.177	B	0.18561	0.022	T	0.27872	-1.0061	10	0.54805	T	0.06	-6.309	1.9276	0.03320	0.1318:0.386:0.1307:0.3514	.	146	O75762	TRPA1_HUMAN	M	146	ENSP00000262209:V146M	ENSP00000262209:V146M	V	-	1	0	TRPA1	73143820	0.922000	0.31269	0.018000	0.16275	0.041000	0.13682	0.564000	0.23563	0.160000	0.19432	0.655000	0.94253	GTG		0.542	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	0	NM_007332		8:72981266
DMBT1	1755	broad.mit.edu	37	10	124402694	124402694	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr10:124402694G>A	ENST00000338354.3	+	53	7128	c.7022G>A	c.(7021-7023)cGc>cAc	p.R2341H	DMBT1_ENST00000359586.6_Missense_Mutation_p.R1061H|DMBT1_ENST00000368955.3_Missense_Mutation_p.R2331H|DMBT1_ENST00000330163.4_Missense_Mutation_p.R1713H|DMBT1_ENST00000368909.3_Missense_Mutation_p.R2341H|DMBT1_ENST00000368956.2_Missense_Mutation_p.R1713H|DMBT1_ENST00000344338.3_Missense_Mutation_p.R2331H			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2341	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CGCATTGCCCGCTTCCGGTTC	0.582																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3		NA																	0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(7021-7023)cGc>cAc		deleted in malignant brain tumors 1							118.0	128.0	125.0					10																	124402694		2080	4208	6288	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124402694G>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.7022G>A	10.37:g.124402694G>A	ENSP00000342210:p.Arg2341His	True	False		Somatic	0				DMBT1_ENST00000344338.3_Missense_Mutation_p.R2331H|DMBT1_ENST00000368955.3_Missense_Mutation_p.R2331H|DMBT1_ENST00000368956.2_Missense_Mutation_p.R1713H|DMBT1_ENST00000330163.4_Missense_Mutation_p.R1713H|DMBT1_ENST00000359586.6_Missense_Mutation_p.R1061H|DMBT1_ENST00000368909.3_Missense_Mutation_p.R2341H	p.R2341H			WXS	Illumina HiSeq	Phase_I	Q9UGM3	DMBT1_HUMAN			53	7128	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	2341			ZP.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.7022G>A		.	.	.	.	.	.	.	.	.	.	G	23.5	4.418744	0.83559	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	D;D;D;D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99;-1.99;-1.99;-1.99	5.28	4.37	0.52481	Zona pellucida sperm-binding protein (3);	0.000000	0.39475	U	0.001355	D	0.92678	0.7673	M	0.85945	2.785	0.42305	D	0.992198	D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;1.0;1.0;1.0	D;P;D;D;D;D;D	0.81914	0.992;0.731;0.984;0.992;0.984;0.992;0.995	D	0.93947	0.7228	10	0.87932	D	0	.	15.2327	0.73404	0.0:0.0:0.8583:0.1417	.	1061;2321;1590;2470;1713;2331;2341	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	H	2341;2470;2341;2341;2341;2340;1713;2331;1713;1713;2341;2331;1713;487;1061	ENSP00000342210:R2341H;ENSP00000343175:R2331H;ENSP00000327747:R1713H;ENSP00000357905:R2341H;ENSP00000357951:R2331H;ENSP00000357952:R1713H;ENSP00000352593:R1061H	ENSP00000331522:R1713H	R	+	2	0	DMBT1	124392684	1.000000	0.71417	0.924000	0.36721	0.011000	0.07611	5.988000	0.70579	1.216000	0.43427	-0.181000	0.13052	CGC		0.582	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	0	NM_004406		10:124402694
KDM2B	84678	broad.mit.edu	37	12	121867911	121867911	+	3'UTR	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:121867911G>A	ENST00000377071.4	-	0	4263				RNF34_ENST00000392464.2_Missense_Mutation_p.V380M|KDM2B_ENST00000536437.1_3'UTR|KDM2B_ENST00000542973.1_3'UTR|KDM2B_ENST00000377069.4_3'UTR	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B						embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CCAAAGGAAAGTGTCGGCTCA	0.493																																						ENST00000392464.2		NA																	0				breast(1)|large_intestine(1)	2						c.(1138-1140)Gtg>Atg		ring finger protein 34, E3 ubiquitin protein ligase							105.0	105.0	105.0					12																	121867911		1915	4122	6037	SO:0001624	3_prime_UTR_variant	80196				apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding	g.chr12:121867911G>A	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.*180C>T	12.37:g.121867911G>A		True	False		Somatic	0				KDM2B_ENST00000536437.1_3'UTR|KDM2B_ENST00000377069.4_3'UTR|KDM2B_ENST00000542973.1_3'UTR|KDM2B_ENST00000377071.4_3'UTR	p.V380M			WXS	Illumina HiSeq	Phase_I	Q969K3	RNF34_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)	7	1207	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		0					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.1138G>A	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	G	3.769	-0.048006	0.07407	.	.	ENSG00000170633	ENST00000392464	T	0.37584	1.19	4.62	1.74	0.24563	.	.	.	.	.	T	0.28034	0.0691	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.22487	-1.0215	5	.	.	.	.	6.9412	0.24494	0.2921:0.0:0.7079:0.0	.	.	.	.	M	380	ENSP00000376257:V380M	.	V	+	1	0	RNF34	120352294	0.001000	0.12720	0.006000	0.13384	0.692000	0.40212	0.651000	0.24873	0.262000	0.21774	0.655000	0.94253	GTG		0.493	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	0	NM_032590		12:121867911
DARS	1615	broad.mit.edu	37	2	136680484	136680484	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:136680484G>A	ENST00000264161.4	-	9	896	c.681C>T	c.(679-681)gcC>gcT	p.A227A	DARS_ENST00000537273.1_Silent_p.A127A	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	227					aspartyl-tRNA aminoacylation (GO:0006422)|gene expression (GO:0010467)|protein complex assembly (GO:0006461)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacylase activity (GO:0004046)|aspartate-tRNA ligase activity (GO:0004815)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	CTCCTTCACTGGCAGCTGAAA	0.328																																						ENST00000264161.4		NA																	0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15						c.(679-681)gcC>gcT		aspartyl-tRNA synthetase	L-Aspartic Acid(DB00128)						45.0	43.0	44.0					2																	136680484		2203	4300	6503	SO:0001819	synonymous_variant	1615				aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding	g.chr2:136680484G>A	J05032	CCDS2180.1	2q21.3	2011-07-01			ENSG00000115866	ENSG00000115866	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	2678	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 1, cytoplasmic"""	603084				2674137	Standard	NM_001349		Approved		uc002tux.1	P14868	OTTHUMG00000131741	ENST00000264161.4:c.681C>T	2.37:g.136680484G>A		False	False		Somatic	0				DARS_ENST00000537273.1_Silent_p.A127A	p.A227A	NM_001349.2	NP_001340.2	WXS	Illumina HiSeq	Phase_I	P14868	SYDC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.168)	9	896	-			227					A8K3J2|D3DP77|Q2TNI3|Q32Q69|Q53HV4|Q53YC5|Q68CR9|Q9BW52	Silent	SNP	ENST00000264161.4	37	c.681C>T	CCDS2180.1																																																																																				0.328	DARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254660.5	0	NM_001349		2:136680484
ARHGEF3	50650	broad.mit.edu	37	3	56789016	56789016	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:56789016C>T	ENST00000296315.3	-	3	536	c.368G>A	c.(367-369)cGt>cAt	p.R123H	ARHGEF3_ENST00000413728.2_Missense_Mutation_p.R129H|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.R155H|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.R123H|ARHGEF3_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.R94H|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.R129H	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	123	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		TACCTCCTGACGTTTGATTTC	0.537																																						ENST00000413728.2		NA																	0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25						c.(385-387)cGt>cAt		Rho guanine nucleotide exchange factor (GEF) 3							126.0	109.0	115.0					3																	56789016		2203	4300	6503	SO:0001583	missense	50650				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr3:56789016C>T	AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"""Rho guanine nucleotide exchange factors"""	683	protein-coding gene	gene with protein product	"""exchange factor found in platelets and leukemic and neuronal tissues, XPLN"", ""RhoGEF protein"""	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.368G>A	3.37:g.56789016C>T	ENSP00000296315:p.Arg123His	False	False		Somatic	0				ARHGEF3_ENST00000296315.3_Missense_Mutation_p.R123H|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.R94H|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.R155H|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.R129H|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.R123H|ARHGEF3_ENST00000498517.1_5'UTR	p.R129H	NM_001128616.1	NP_001122088.1	WXS	Illumina HiSeq	Phase_I	Q9NR81	ARHG3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)	3	929	-			123			DH.		A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Missense_Mutation	SNP	ENST00000296315.3	37	c.386G>A	CCDS2878.1	.	.	.	.	.	.	.	.	.	.	C	36	5.619168	0.96649	.	.	ENSG00000163947	ENST00000296315;ENST00000338458;ENST00000413728;ENST00000496106;ENST00000497267;ENST00000495373;ENST00000468727;ENST00000473779	T;T;T;T;T;T;T;T	0.75050	0.93;0.93;0.93;0.93;0.93;0.93;-0.9;-0.9	5.32	5.32	0.75619	Dbl homology (DH) domain (3);	0.056451	0.64402	D	0.000004	D	0.88190	0.6370	M	0.86097	2.795	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.994;0.988;0.993;0.997;0.996;0.998	D	0.89160	0.3529	10	0.62326	D	0.03	-2.6874	19.3999	0.94623	0.0:1.0:0.0:0.0	.	129;94;123;155;123;129	E9PG37;E7EU49;C9J586;Q9NR81-2;Q9NR81;Q9NR81-3	.;.;.;.;ARHG3_HUMAN;.	H	123;155;129;129;94;123;124;141	ENSP00000296315:R123H;ENSP00000341071:R155H;ENSP00000410922:R129H;ENSP00000420420:R129H;ENSP00000418826:R94H;ENSP00000417986:R123H;ENSP00000417087:R124H;ENSP00000420402:R141H	ENSP00000296315:R123H	R	-	2	0	ARHGEF3	56764056	1.000000	0.71417	0.984000	0.44739	0.996000	0.88848	7.770000	0.85390	2.668000	0.90789	0.655000	0.94253	CGT		0.537	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352431.2	0	NM_019555		3:56789016
STOX1	219736	broad.mit.edu	37	10	70644582	70644582	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr10:70644582G>A	ENST00000298596.6	+	3	1113	c.1030G>A	c.(1030-1032)Gtc>Atc	p.V344I	STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.V344I|STOX1_ENST00000421961.2_Missense_Mutation_p.V234I|STOX1_ENST00000399162.2_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	344						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						AGAATGGCCCGTCCGAGATGA	0.418																																						ENST00000298596.6		NA																	0				breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						c.(1030-1032)Gtc>Atc		storkhead box 1							103.0	101.0	102.0					10																	70644582		1902	4124	6026	SO:0001583	missense	219736					cytoplasm|nucleolus	DNA binding	g.chr10:70644582G>A	AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"""chromosome 10 open reading frame 24"""	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.1030G>A	10.37:g.70644582G>A	ENSP00000298596:p.Val344Ile	True	False		Somatic	0				STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.V234I|STOX1_ENST00000399169.4_Missense_Mutation_p.V344I|STOX1_ENST00000399165.4_Intron	p.V344I	NM_152709.4	NP_689922.3	WXS	Illumina HiSeq	Phase_I	Q6ZVD7	STOX1_HUMAN			3	1113	+			344					A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Missense_Mutation	SNP	ENST00000298596.6	37	c.1030G>A	CCDS41535.1	.	.	.	.	.	.	.	.	.	.	G	32	5.121909	0.94429	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000421961	T;T;T	0.80304	-1.36;-1.36;-1.04	6.08	6.08	0.98989	.	0.000000	0.64402	U	0.000003	D	0.90577	0.7046	M	0.77103	2.36	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.90109	0.4190	10	0.66056	D	0.02	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	344	Q6ZVD7	STOX1_HUMAN	I	344;344;234	ENSP00000382121:V344I;ENSP00000298596:V344I;ENSP00000394509:V234I	ENSP00000298596:V344I	V	+	1	0	STOX1	70314588	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.909000	0.87444	2.894000	0.99253	0.591000	0.81541	GTC		0.418	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	0	NM_152709		10:70644582
GNPTG	84572	broad.mit.edu	37	16	1399510	1399510	+	5'Flank	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:1399510C>T	ENST00000204679.4	+	0	0				TSR3_ENST00000007390.2_Silent_p.T289T	NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphate transferase, gamma subunit						carbohydrate phosphorylation (GO:0046835)|N-glycan processing to lysosome (GO:0016256)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				CCCGTCCCTGCGTCTGCTCCT	0.622																																						ENST00000007390.2		NA																	0					NA						c.(865-867)acG>acA		TSR3, 20S rRNA accumulation, homolog (S. cerevisiae)							114.0	134.0	127.0					16																	1399510		2199	4300	6499	SO:0001631	upstream_gene_variant	115939							g.chr16:1399510C>T	BC014592	CCDS10436.1	16p13.3	2009-04-17		2004-10-01	ENSG00000090581	ENSG00000090581			23026	protein-coding gene	gene with protein product	"""GlcNAc-phosphotransferase gamma-subunit"""	607838	"""N-acetylglucosamine-1-phosphotransferase, gamma subunit"", ""chromosome 16 open reading frame 27"""	GNPTAG, C16orf27		10712439	Standard	NM_032520		Approved	CAB56184, c316G12.3	uc002clm.3	Q9UJJ9	OTTHUMG00000047835		16.37:g.1399510C>T	Exception_encountered	False	False		Somatic	0					p.T289T	NM_001001410.2	NP_001001410.1	WXS	Illumina HiSeq	Phase_I					6	973	-			NA					B2R556|Q6XYD7|Q96L13	Silent	SNP	ENST00000204679.4	37	c.867G>A	CCDS10436.1																																																																																				0.622	GNPTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109058.2	0	NM_032520		16:1399510
SNX29P2	440352	broad.mit.edu	37	16	29370570	29370570	+	RNA	SNP	C	C	A	rs578098236		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:29370570C>A	ENST00000507381.1	+	0	426				SNX29P2_ENST00000398878.3_lincRNA			Q8IUI4	S29P2_HUMAN	sorting nexin 29 pseudogene 2																		ATTTCCTTTTCTCTTTCAATC	0.483																																						ENST00000398878.3		NA																	0					NA															23.0	21.0	22.0					16																	29370570		2169	4253	6422			0							g.chr16:29370570C>A	BX648280		16p11.2	2014-03-21	2011-08-16	2011-08-16	ENSG00000198106	ENSG00000198106			31914	pseudogene	pseudogene			"""RUN domain containing 2C"""	RUNDC2C			Standard	NR_002939		Approved		uc021tfw.1	Q8IUI4			16.37:g.29370570C>A		True	False		Somatic	0				SNX29P2_ENST00000507381.1_RNA				WXS	Illumina HiSeq	Phase_I					0	1115	+			NA						RNA	SNP	ENST00000507381.1	37																																																																																						0.483	SNX29P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361855.1	0	NR_002939		16:29370570
PARS2	25973	broad.mit.edu	37	1	55223794	55223794	+	Silent	SNP	G	G	A	rs547116468		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:55223794G>A	ENST00000371279.3	-	2	1123	c.1041C>T	c.(1039-1041)atC>atT	p.I347I		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	347					gene expression (GO:0010467)|prolyl-tRNA aminoacylation (GO:0006433)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|proline-tRNA ligase activity (GO:0004827)			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	CAGCAGCCAAGATCCGTGTCA	0.542																																						ENST00000371279.3		NA																	0				breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15						c.(1039-1041)atC>atT		prolyl-tRNA synthetase 2, mitochondrial (putative)	L-Proline(DB00172)						78.0	84.0	82.0					1																	55223794		2203	4300	6503	SO:0001819	synonymous_variant	25973				prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity	g.chr1:55223794G>A	AK025585	CCDS597.1	1p32.2	2011-07-01	2007-02-23		ENSG00000162396	ENSG00000162396	6.1.1.15	"""Aminoacyl tRNA synthetases / Class II"""	30563	protein-coding gene	gene with protein product	"""proline tRNA ligase 2, mitochondrial (putative)"""	612036				15779907	Standard	NM_152268		Approved	DKFZp727A071	uc001cxy.3	Q7L3T8	OTTHUMG00000009915	ENST00000371279.3:c.1041C>T	1.37:g.55223794G>A		False	False		Somatic	0					p.I347I	NM_152268.3	NP_689481.2	WXS	Illumina HiSeq	Phase_I	Q7L3T8	SYPM_HUMAN			2	1123	-			347					A8K0W4|Q9H6S5|Q9UFT1	Silent	SNP	ENST00000371279.3	37	c.1041C>T	CCDS597.1																																																																																				0.542	PARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027436.1	0	NM_152268		1:55223794
AKAP6	9472	broad.mit.edu	37	14	33147660	33147660	+	Missense_Mutation	SNP	C	C	G			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr14:33147660C>G	ENST00000280979.4	+	8	3044	c.2874C>G	c.(2872-2874)agC>agG	p.S958R	AKAP6_ENST00000557354.1_Missense_Mutation_p.S958R|AKAP6_ENST00000557272.1_Missense_Mutation_p.S958R	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	958					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CAGTGGGAAGCAATGGGTAGG	0.403																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4		NA																	0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(2872-2874)agC>agG		A kinase (PRKA) anchor protein 6							196.0	186.0	190.0					14																	33147660		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33147660C>G	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.2874C>G	14.37:g.33147660C>G	ENSP00000280979:p.Ser958Arg	False	False		Somatic	0				AKAP6_ENST00000557272.1_Missense_Mutation_p.S958R|AKAP6_ENST00000557354.1_Missense_Mutation_p.S958R	p.S958R	NM_004274.4	NP_004265.3	WXS	Illumina HiSeq	Phase_I	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	8	3044	+	Breast(36;0.0388)|Prostate(35;0.15)		958					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.2874C>G	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.139851	0.56936	.	.	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272	T;T;T	0.20463	3.39;2.07;2.12	5.3	4.33	0.51752	.	0.185752	0.48767	D	0.000163	T	0.14056	0.0340	N	0.14661	0.345	0.39331	D	0.965421	P;P	0.50710	0.612;0.938	B;P	0.48524	0.261;0.58	T	0.10730	-1.0617	10	0.54805	T	0.06	-4.9967	2.9876	0.05973	0.0:0.5085:0.0:0.4915	.	958;958	A7E242;Q13023	.;AKAP6_HUMAN	R	958	ENSP00000280979:S958R;ENSP00000450531:S958R;ENSP00000451247:S958R	ENSP00000280979:S958R	S	+	3	2	AKAP6	32217411	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.166000	0.31834	1.142000	0.42291	0.585000	0.79938	AGC		0.403	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	0	NM_004274		14:33147660
RABGAP1L	9910	broad.mit.edu	37	1	174606564	174606564	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:174606564G>A	ENST00000251507.4	+	14	1936	c.1762G>A	c.(1762-1764)Gca>Aca	p.A588T		NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0								p.A588T(1)		NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						TACATTTCCCGCACATGATTA	0.358																																						ENST00000251507.4		NA																	1	Substitution - Missense(1)	p.A588T(1)	prostate(1)	NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						c.(1762-1764)Gca>Aca		RAB GTPase activating protein 1-like							115.0	104.0	108.0					1																	174606564		2203	4300	6503	SO:0001583	missense	9910				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity	g.chr1:174606564G>A	AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.1762G>A	1.37:g.174606564G>A	ENSP00000251507:p.Ala588Thr	True	False		Somatic	0					p.A588T	NM_014857.4	NP_055672.3	WXS	Illumina HiSeq	Phase_I	Q5R372	RBG1L_HUMAN			14	1936	+			588			Rab-GAP TBC.		B7ZAA4	Missense_Mutation	SNP	ENST00000251507.4	37	c.1762G>A	CCDS1314.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.927515	0.92389	.	.	ENSG00000152061	ENST00000251507;ENST00000367692	T	0.03982	3.74	5.22	5.22	0.72569	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.12732	0.0309	L	0.31664	0.95	0.80722	D	1	D	0.65815	0.995	D	0.63793	0.918	T	0.04191	-1.0970	10	0.48119	T	0.1	.	18.7409	0.91773	0.0:0.0:1.0:0.0	.	588	Q5R372	RBG1L_HUMAN	T	588;600	ENSP00000251507:A588T	ENSP00000251507:A588T	A	+	1	0	RABGAP1L	172873187	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.955000	0.93058	2.593000	0.87608	0.591000	0.81541	GCA		0.358	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	0	NM_001243765		1:174606564
MAGEA8	4107	broad.mit.edu	37	X	149013926	149013926	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:149013926G>A	ENST00000542674.1	+	3	1401	c.880G>A	c.(880-882)Gtc>Atc	p.V294I	MAGEA8_ENST00000286482.1_Missense_Mutation_p.V294I|MAGEA8_ENST00000535454.1_Missense_Mutation_p.V294I	NM_001166401.1	NP_001159873.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	294	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGCATGTGGTCAGGGTCAA	0.572																																						ENST00000535454.1		NA																	0				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20						c.(880-882)Gtc>Atc		melanoma antigen family A, 8							123.0	115.0	117.0					X																	149013926		2203	4298	6501	SO:0001583	missense	4107							g.chrX:149013926G>A		CCDS14692.1	Xq28	2009-03-13			ENSG00000156009	ENSG00000156009			6806	protein-coding gene	gene with protein product	"""MAGE-8 antigen"", ""cancer/testis antigen family 1, member 8"""	300341		MAGE8		8575766	Standard	NM_005364		Approved	MGC2182, CT1.8	uc004fdw.2	P43361	OTTHUMG00000022635	ENST00000542674.1:c.880G>A	X.37:g.149013926G>A	ENSP00000443776:p.Val294Ile	False	False		Somatic	0				MAGEA8_ENST00000542674.1_Missense_Mutation_p.V294I|MAGEA8_ENST00000286482.1_Missense_Mutation_p.V294I	p.V294I	NM_001166400.1	NP_001159872.1	WXS	Illumina HiSeq	Phase_I	P43361	MAGA8_HUMAN			4	1429	+	Acute lymphoblastic leukemia(192;6.56e-05)		294			MAGE.		Q9BUN9	Missense_Mutation	SNP	ENST00000542674.1	37	c.880G>A	CCDS14692.1	.	.	.	.	.	.	.	.	.	.	.	3.209	-0.162021	0.06502	.	.	ENSG00000156009	ENST00000535454;ENST00000542674;ENST00000286482	T;T;T	0.01629	4.72;4.72;4.72	1.0	-2.01	0.07410	.	1.351960	0.04740	N	0.422606	T	0.01254	0.0041	N	0.12831	0.26	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48843	-0.8999	10	0.62326	D	0.03	.	1.746	0.02962	0.257:0.0:0.4215:0.3215	.	294	P43361	MAGA8_HUMAN	I	294	ENSP00000438293:V294I;ENSP00000443776:V294I;ENSP00000286482:V294I	ENSP00000286482:V294I	V	+	1	0	MAGEA8	148774584	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.569000	0.05902	-0.838000	0.04218	-1.043000	0.02367	GTC		0.572	MAGEA8-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058728.1	0	NM_005364		X:149013926
PFKL	5211	broad.mit.edu	37	21	45732983	45732983	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr21:45732983C>T	ENST00000349048.4	+	5	605	c.550C>T	c.(550-552)Cgc>Tgc	p.R184C	PFKL_ENST00000496824.1_3'UTR|PFKL_ENST00000403390.1_Missense_Mutation_p.R231C	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	184	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GGCCCTCCACCGCATCATGGA	0.672																																						ENST00000403390.1		NA																	0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(691-693)Cgc>Tgc		phosphofructokinase, liver							131.0	103.0	112.0					21																	45732983		2203	4300	6503	SO:0001583	missense	5211				fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	g.chr21:45732983C>T		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.550C>T	21.37:g.45732983C>T	ENSP00000269848:p.Arg184Cys	False	False		Somatic	0				PFKL_ENST00000349048.4_Missense_Mutation_p.R184C|PFKL_ENST00000496824.1_3'UTR	p.R231C			WXS	Illumina HiSeq	Phase_I	P17858	K6PL_HUMAN		Colorectal(79;0.0811)	6	691	+			184					Q96A64|Q96IH4|Q9BR91	Missense_Mutation	SNP	ENST00000349048.4	37	c.691C>T	CCDS33582.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.299706	0.81136	.	.	ENSG00000141959	ENST00000349048;ENST00000381188;ENST00000403390	T;T	0.80738	-1.41;-1.41	4.77	4.77	0.60923	Phosphofructokinase domain (2);	0.000000	0.85682	D	0.000000	D	0.91123	0.7205	M	0.92923	3.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92671	0.6150	10	0.87932	D	0	-34.907	11.7811	0.52016	0.1762:0.8238:0.0:0.0	.	184;231	P17858;P17858-2	K6PL_HUMAN;.	C	184;234;231	ENSP00000269848:R184C;ENSP00000384038:R231C	ENSP00000269848:R184C	R	+	1	0	PFKL	44557411	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.217000	0.32455	2.200000	0.70718	0.491000	0.48974	CGC		0.672	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1	0			21:45732983
SMCHD1	23347	broad.mit.edu	37	18	2722606	2722606	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr18:2722606G>A	ENST00000320876.6	+	20	2886	c.2548G>A	c.(2548-2550)Gaa>Aaa	p.E850K	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.E850K	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	850					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GTTTCAGGATGAATTTGGTCA	0.358																																						ENST00000320876.6		NA																	0				NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						c.(2548-2550)Gaa>Aaa		structural maintenance of chromosomes flexible hinge domain containing 1							190.0	177.0	181.0					18																	2722606		1844	4083	5927	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2722606G>A	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.2548G>A	18.37:g.2722606G>A	ENSP00000326603:p.Glu850Lys	False	False		Somatic	0				RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.E850K	p.E850K	NM_015295.2	NP_056110.2	WXS	Illumina HiSeq	Phase_I	A6NHR9	SMHD1_HUMAN			20	2886	+			850					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.2548G>A	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.967778	0.92855	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.25749	1.78;1.78	5.36	5.36	0.76844	.	0.191648	0.45606	D	0.000346	T	0.35189	0.0923	L	0.29908	0.895	0.38754	D	0.954179	D	0.60575	0.988	P	0.54544	0.755	T	0.20739	-1.0266	10	0.87932	D	0	-26.6941	19.4611	0.94918	0.0:0.0:1.0:0.0	.	850	A6NHR9	SMHD1_HUMAN	K	850	ENSP00000326603:E850K;ENSP00000261598:E850K	ENSP00000261598:E850K	E	+	1	0	SMCHD1	2712606	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.242000	0.65389	2.657000	0.90304	0.655000	0.94253	GAA		0.358	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2	0			18:2722606
SURF4	6836	broad.mit.edu	37	9	136230524	136230524	+	Missense_Mutation	SNP	A	A	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:136230524A>T	ENST00000371989.3	-	6	784	c.655T>A	c.(655-657)Ttc>Atc	p.F219I	SURF4_ENST00000545297.1_3'UTR|SURF4_ENST00000485435.2_Intron|SURF4_ENST00000467910.1_5'UTR	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	219					Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		AAGGCGTTGAAATATACGTTG	0.483																																						ENST00000371989.3		NA																	0				kidney(1)|large_intestine(2)|lung(5)	8						c.(655-657)Ttc>Atc		surfeit 4							104.0	94.0	97.0					9																	136230524		2203	4300	6503	SO:0001583	missense	6836					endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding	g.chr9:136230524A>T		CCDS6968.1, CCDS65177.1, CCDS65178.1, CCDS75929.1	9q33-q34	2008-07-21			ENSG00000148248	ENSG00000148248			11476	protein-coding gene	gene with protein product	"""surfeit locus protein 4"", ""surface 4 integral membrane protein"""	185660				8499913, 7540914	Standard	NM_033161		Approved	ERV29, FLJ22993, MGC102753	uc004cdj.3	O15260	OTTHUMG00000020868	ENST00000371989.3:c.655T>A	9.37:g.136230524A>T	ENSP00000361057:p.Phe219Ile	True	False		Somatic	0				SURF4_ENST00000545297.1_3'UTR|SURF4_ENST00000485435.2_Intron|SURF4_ENST00000467910.1_5'UTR	p.F219I	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	WXS	Illumina HiSeq	Phase_I	O15260	SURF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)	6	784	-			219					B7Z6A4|O60923|Q5T8U6|Q9UNZ0|Q9UNZ1	Missense_Mutation	SNP	ENST00000371989.3	37	c.655T>A	CCDS6968.1	.	.	.	.	.	.	.	.	.	.	A	15.94	2.979769	0.53827	.	.	ENSG00000148248	ENST00000371989;ENST00000541390	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.52741	0.1753	L	0.41710	1.295	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.12837	0.008;0.008	T	0.47636	-0.9102	9	0.22706	T	0.39	-28.2418	14.2494	0.66009	1.0:0.0:0.0:0.0	.	210;219	B7Z7A8;O15260	.;SURF4_HUMAN	I	219;210	.	ENSP00000361057:F219I	F	-	1	0	SURF4	135220345	1.000000	0.71417	0.962000	0.40283	0.986000	0.74619	6.920000	0.75799	1.962000	0.57031	0.383000	0.25322	TTC		0.483	SURF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054886.1	0	NM_033161		9:136230524
WWC3	55841	broad.mit.edu	37	X	10090710	10090710	+	Missense_Mutation	SNP	G	G	A	rs139403054	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:10090710G>A	ENST00000380861.4	+	12	2073	c.1682G>A	c.(1681-1683)cGc>cAc	p.R561H	WWC3_ENST00000454666.1_Missense_Mutation_p.R561H	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	561					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						AGGGCACGCCGCATCTCCGCA	0.522													G|||	2	0.000529801	0.0	0.0014	3775	,	,		13130	0.001		0.0	False		,,,				2504	0.0					ENST00000380861.4		NA																	0				NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						c.(1681-1683)cGc>cAc		WWC family member 3		G	HIS/ARG	1,3834		0,1,0,1631,571	274.0	248.0	257.0		1682	3.0	0.0	X	dbSNP_134	257	3,6725		0,1,2,2427,1870	yes	missense	WWC3	NM_015691.3	29	0,2,2,4058,2441	AA,AG,A,GG,G		0.0446,0.0261,0.0379	probably-damaging	561/1093	10090710	4,10559	2203	4300	6503	SO:0001583	missense	55841							g.chrX:10090710G>A	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.1682G>A	X.37:g.10090710G>A	ENSP00000370242:p.Arg561His	False	False		Somatic	0				WWC3_ENST00000454666.1_Missense_Mutation_p.R561H	p.R561H	NM_015691.3	NP_056506.2	WXS	Illumina HiSeq	Phase_I	Q9ULE0	WWC3_HUMAN			12	2073	+			561					A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	ENST00000380861.4	37	c.1682G>A	CCDS14136.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	15.51	2.854240	0.51270	2.61E-4	4.46E-4	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000543412	T;T	0.16897	2.31;2.31	4.73	2.95	0.34219	.	0.180568	0.48767	N	0.000178	T	0.38427	0.1040	M	0.76574	2.34	0.42547	D	0.993098	D	0.89917	1.0	D	0.83275	0.996	T	0.06391	-1.0829	9	.	.	.	-3.4228	10.5601	0.45140	0.1632:0.0:0.8368:0.0	.	561	Q9ULE0	WWC3_HUMAN	H	561;561;56	ENSP00000370242:R561H;ENSP00000399584:R561H	.	R	+	2	0	WWC3	10050710	1.000000	0.71417	0.009000	0.14445	0.539000	0.34962	4.037000	0.57311	0.302000	0.22762	0.600000	0.82982	CGC		0.522	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	0	NM_015691		X:10090710
GRM1	2911	broad.mit.edu	37	6	146480697	146480697	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:146480697G>A	ENST00000282753.1	+	2	1149	c.914G>A	c.(913-915)cGc>cAc	p.R305H	GRM1_ENST00000361719.2_Missense_Mutation_p.R305H|GRM1_ENST00000492807.2_Missense_Mutation_p.R305H|GRM1_ENST00000355289.4_Missense_Mutation_p.R305H|GRM1_ENST00000392299.2_Missense_Mutation_p.R305H|GRM1_ENST00000507907.1_Missense_Mutation_p.R305H			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	305					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GCCATGCGGCGCCTTGGCGTC	0.557																																						ENST00000392299.2		NA																	0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(913-915)cGc>cAc		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						62.0	61.0	61.0					6																	146480697		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146480697G>A	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.914G>A	6.37:g.146480697G>A	ENSP00000282753:p.Arg305His	False	False		Somatic	0				GRM1_ENST00000355289.4_Missense_Mutation_p.R305H|GRM1_ENST00000282753.1_Missense_Mutation_p.R305H|GRM1_ENST00000507907.1_Missense_Mutation_p.R305H|GRM1_ENST00000361719.2_Missense_Mutation_p.R305H|GRM1_ENST00000492807.2_Missense_Mutation_p.R305H	p.R305H			WXS	Illumina HiSeq	Phase_I	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	3	1384	+		Ovarian(120;0.0387)	305					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.914G>A	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	35	5.490785	0.96339	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8;-1.8	5.32	5.32	0.75619	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.90776	0.7104	M	0.84326	2.69	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.995;0.998	P;D;P;P	0.69824	0.851;0.966;0.908;0.851	D	0.91828	0.5473	10	0.87932	D	0	.	18.9966	0.92815	0.0:0.0:1.0:0.0	.	305;305;300;305	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	H	305	ENSP00000354896:R305H;ENSP00000376119:R305H;ENSP00000424095:R305H;ENSP00000282753:R305H;ENSP00000347437:R305H;ENSP00000425599:R305H	ENSP00000282753:R305H	R	+	2	0	GRM1	146522390	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.415000	0.97375	2.495000	0.84180	0.655000	0.94253	CGC		0.557	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	0	NM_000838		6:146480697
TRIM16	10626	broad.mit.edu	37	17	15534959	15534959	+	Missense_Mutation	SNP	G	G	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:15534959G>T	ENST00000578237.1	-	10	1940	c.1085C>A	c.(1084-1086)cCc>cAc	p.P362H	TRIM16_ENST00000416464.2_Missense_Mutation_p.P232H|TRIM16_ENST00000577886.1_Missense_Mutation_p.P146H|TRIM16_ENST00000336708.7_Missense_Mutation_p.P362H|RP11-385D13.1_ENST00000455584.2_Missense_Mutation_p.P362H|TRIM16_ENST00000579219.1_Intron			O95361	TRI16_HUMAN	tripartite motif containing 16	362	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription, DNA-templated (GO:0045893)|response to growth hormone (GO:0060416)|response to organophosphorus (GO:0046683)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|PML body (GO:0016605)	DNA binding (GO:0003677)|interleukin-1 binding (GO:0019966)|NACHT domain binding (GO:0032089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		CCTGGTGCTGGGCTCAGGTTT	0.478																																						ENST00000455584.2		NA																	0					NA						c.(1084-1086)cCc>cAc									115.0	96.0	102.0					17																	15534959		2203	4300	6503	SO:0001583	missense	0							g.chr17:15534959G>T	AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926		"""Tripartite motif containing / Tripartite motif containing"""	17241	protein-coding gene	gene with protein product	"""estrogen-responsive B box protein"""	609505	"""tripartite motif-containing 16"""			11331580	Standard	NM_006470		Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.1085C>A	17.37:g.15534959G>T	ENSP00000463188:p.Pro362His	True	False		Somatic	0				TRIM16_ENST00000577886.1_Missense_Mutation_p.P146H|TRIM16_ENST00000578237.1_Missense_Mutation_p.P362H|TRIM16_ENST00000416464.2_Missense_Mutation_p.P232H|TRIM16_ENST00000336708.7_Missense_Mutation_p.P362H|TRIM16_ENST00000579219.1_Intron	p.P362H			WXS	Illumina HiSeq	Phase_I					5	1128	-			NA					Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Missense_Mutation	SNP	ENST00000578237.1	37	c.1085C>A	CCDS11171.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	13.83|13.83	2.353404|2.353404	0.41700|0.41700	.|.	.|.	ENSG00000221926|ENSG00000251537	ENST00000336708;ENST00000416464|ENST00000455584	T;T|.	0.72835|.	-0.33;-0.69|.	4.61|4.61	4.61|4.61	0.57282|0.57282	B30.2/SPRY domain (1);|.	0.130100|0.130100	0.52532|0.52532	D|D	0.000067|0.000067	T|T	0.80105|0.80105	0.4562|0.4562	M|M	0.88512|0.88512	2.96|2.96	0.44162|0.44162	D|D	0.996964|0.996964	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.999;0.997|.	D|D	0.83788|0.83788	0.0229|0.0229	10|7	0.59425|0.54805	D|T	0.04|0.06	.|.	15.3149|15.3149	0.74065|0.74065	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	232;362;376|.	B3KP96;O95361;Q59EB2|.	.;TRI16_HUMAN;.|.	H|T	362;232|377	ENSP00000338989:P362H;ENSP00000399918:P232H|.	ENSP00000338989:P362H|ENSP00000402644:P377T	P|P	-|-	2|1	0|0	TRIM16|RP11-385D13.1	15475684|15475684	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	6.466000|6.466000	0.73543|0.73543	2.262000|2.262000	0.75019|0.75019	0.555000|0.555000	0.69702|0.69702	CCC|CCA		0.478	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130700.2	0	NM_006470		17:15534959
CNOT1	23019	broad.mit.edu	37	16	58562472	58562472	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:58562472C>T	ENST00000317147.5	-	44	6692	c.6360G>A	c.(6358-6360)gtG>gtA	p.V2120V	CNOT1_ENST00000569240.1_Silent_p.V2115V|CNOT1_ENST00000245138.4_Silent_p.V971V	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2120					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TAGGTGGGATCACATCACAGA	0.403																																						ENST00000317147.5		NA																	0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(6358-6360)gtG>gtA		CCR4-NOT transcription complex, subunit 1							107.0	108.0	108.0					16																	58562472		2198	4300	6498	SO:0001819	synonymous_variant	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58562472C>T	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.6360G>A	16.37:g.58562472C>T		True	False		Somatic	0				CNOT1_ENST00000569240.1_Silent_p.V2115V|CNOT1_ENST00000245138.4_Silent_p.V971V	p.V2120V	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	WXS	Illumina HiSeq	Phase_I	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	44	6692	-			2120					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Silent	SNP	ENST00000317147.5	37	c.6360G>A	CCDS10799.1																																																																																				0.403	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	0	NM_016284		16:58562472
PAPPA2	60676	broad.mit.edu	37	1	176564512	176564512	+	Missense_Mutation	SNP	T	T	A	rs201890893		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:176564512T>A	ENST00000367662.3	+	3	2936	c.1772T>A	c.(1771-1773)aTt>aAt	p.I591N	PAPPA2_ENST00000367661.3_Missense_Mutation_p.I591N	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	591	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCCAGCAAGATTGGCAATGAC	0.602																																						ENST00000367662.3		NA																	0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(1771-1773)aTt>aAt		pappalysin 2							121.0	122.0	121.0					1																	176564512		2095	4228	6323	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176564512T>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1772T>A	1.37:g.176564512T>A	ENSP00000356634:p.Ile591Asn	False	False		Somatic	0				PAPPA2_ENST00000367661.3_Missense_Mutation_p.I591N	p.I591N	NM_020318.2	NP_064714.2	WXS	Illumina HiSeq	Phase_I	Q9BXP8	PAPP2_HUMAN			3	2936	+			591			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.1772T>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	T	15.70	2.910769	0.52439	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.51325	3.96;0.71	5.24	5.24	0.73138	Notch domain (2);	0.381407	0.27531	N	0.018942	T	0.59418	0.2192	L	0.36672	1.1	0.43971	D	0.996659	D;D	0.89917	1.0;0.998	D;D	0.76575	0.988;0.973	T	0.63193	-0.6692	10	0.87932	D	0	-6.9095	14.8259	0.70113	0.0:0.0:0.0:1.0	.	591;591	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	N	591	ENSP00000356634:I591N;ENSP00000356633:I591N	ENSP00000356633:I591N	I	+	2	0	PAPPA2	174831135	1.000000	0.71417	0.995000	0.50966	0.131000	0.20780	7.897000	0.87356	1.976000	0.57569	0.528000	0.53228	ATT		0.602	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1	0			1:176564512
EFCAB13	124989	broad.mit.edu	37	17	45487057	45487057	+	Splice_Site	SNP	G	G	A	rs565840759	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:45487057G>A	ENST00000331493.2	+	21	2689	c.2278G>A	c.(2278-2280)Gag>Aag	p.E760K	EFCAB13_ENST00000517484.1_Splice_Site_p.E664K|CTD-2026D20.2_ENST00000523101.1_RNA	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	760	EF-hand 4.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										AAAGGTAAACGGTGAGTAAGA	0.323													G|||	2	0.000399361	0.0008	0.0	5008	,	,		18196	0.0		0.0	False		,,,				2504	0.001					ENST00000331493.2		NA																	0					NA						c.(2278-2280)Gag>Aag		EF-hand calcium binding domain 13							131.0	136.0	135.0					17																	45487057		2203	4300	6503	SO:0001630	splice_region_variant	124989							g.chr17:45487057G>A	BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.2278+1G>A	17.37:g.45487057G>A		False	False		Somatic	0				CTD-2026D20.2_ENST00000523101.1_RNA|EFCAB13_ENST00000517484.1_Splice_Site_p.E664K	p.E760K	NM_152347.4	NP_689560.3	WXS	Illumina HiSeq	Phase_I					21	2689	+			NA					G3V128|Q49AG9	Splice_Site	SNP	ENST00000331493.2	37	c.2278G>A	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	G	5.318	0.244067	0.10077	.	.	ENSG00000178852	ENST00000331493;ENST00000517484	T;T	0.27256	1.68;1.68	2.46	2.46	0.29980	EF-hand-like domain (1);	0.865207	0.09718	N	0.764851	T	0.26340	0.0643	L	0.58101	1.795	0.32031	N	0.599567	P;D	0.60575	0.787;0.988	B;B	0.42422	0.182;0.387	T	0.41805	-0.9488	10	0.56958	D	0.05	0.4651	8.549	0.33440	0.0:0.0:1.0:0.0	.	760;664	Q8IY85;G3V128	CQ057_HUMAN;.	K	760;664	ENSP00000332111:E760K;ENSP00000430048:E664K	ENSP00000332111:E760K	E	+	1	0	C17orf57	42842056	0.990000	0.36364	0.646000	0.29493	0.069000	0.16628	1.168000	0.31859	1.675000	0.50919	0.461000	0.40582	GAG		0.323	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	0	NM_152347	Missense_Mutation	17:45487057
NRSN1	140767	broad.mit.edu	37	6	24145869	24145869	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:24145869G>A	ENST00000378491.4	+	4	584	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K		NM_080723.4	NP_542454.3			neurensin 1											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						AGCATTTGGCGAAGCCGATTT	0.507																																						ENST00000378491.4		NA																	0				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						c.(283-285)Gaa>Aaa		neurensin 1							99.0	93.0	95.0					6																	24145869		2203	4300	6503	SO:0001583	missense	140767				nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle		g.chr6:24145869G>A	AF418980	CCDS4549.1	6p22.1	2008-02-05	2006-07-04	2006-07-04	ENSG00000152954	ENSG00000152954			17881	protein-coding gene	gene with protein product			"""vesicular membrane protein p24"""	VMP		12463420	Standard	NM_080723		Approved	p24	uc010jpq.1	Q8IZ57	OTTHUMG00000016406	ENST00000378491.4:c.283G>A	6.37:g.24145869G>A	ENSP00000367752:p.Glu95Lys	False	False		Somatic	0					p.E95K	NM_080723.4	NP_542454.3	WXS	Illumina HiSeq	Phase_I	Q8IZ57	NRSN1_HUMAN			4	584	+			95						Missense_Mutation	SNP	ENST00000378491.4	37	c.283G>A	CCDS4549.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990408	0.35131	.	.	ENSG00000152954	ENST00000378491;ENST00000378477	T	0.18960	2.18	5.37	5.37	0.77165	.	0.095551	0.64402	D	0.000001	T	0.10508	0.0257	L	0.46157	1.445	0.80722	D	1	B	0.21309	0.054	B	0.12156	0.007	T	0.03025	-1.1081	10	0.41790	T	0.15	-7.9822	12.8894	0.58064	0.0846:0.0:0.9154:0.0	.	95	Q8IZ57	NRSN1_HUMAN	K	95	ENSP00000367752:E95K	ENSP00000367738:E95K	E	+	1	0	NRSN1	24253848	1.000000	0.71417	0.930000	0.37139	0.172000	0.22775	4.652000	0.61454	2.524000	0.85096	0.557000	0.71058	GAA		0.507	NRSN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043866.1	0	NM_080723		6:24145869
TAX1BP1	8887	broad.mit.edu	37	7	27868361	27868361	+	Silent	SNP	C	C	T	rs534866304		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:27868361C>T	ENST00000396319.2	+	17	2371	c.2283C>T	c.(2281-2283)agC>agT	p.S761S	TAX1BP1_ENST00000265393.6_Silent_p.S719S|TAX1BP1_ENST00000409980.1_Silent_p.S785S|TAX1BP1_ENST00000433216.2_Silent_p.S562S|TAX1BP1_ENST00000543117.1_Silent_p.S719S	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	761					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)	p.S761S(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			CGATGTGCAGCGAGCAGTTCC	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		17086	0.001		0.0	False		,,,				2504	0.0					ENST00000396319.2		NA																	1	Substitution - coding silent(1)	p.S761S(1)	large_intestine(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(2281-2283)agC>agT		Tax1 (human T-cell leukemia virus type I) binding protein 1							150.0	140.0	143.0					7																	27868361		2203	4300	6503	SO:0001819	synonymous_variant	8887				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding	g.chr7:27868361C>T	U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.2283C>T	7.37:g.27868361C>T		False	False		Somatic	0				TAX1BP1_ENST00000265393.6_Silent_p.S719S|TAX1BP1_ENST00000543117.1_Silent_p.S719S|TAX1BP1_ENST00000433216.2_Silent_p.S562S|TAX1BP1_ENST00000409980.1_Silent_p.S785S	p.S761S	NM_006024.6	NP_006015.4	WXS	Illumina HiSeq	Phase_I	Q86VP1	TAXB1_HUMAN	GBM - Glioblastoma multiforme(3;0.0823)		17	2371	+			761					B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Silent	SNP	ENST00000396319.2	37	c.2283C>T	CCDS5415.1																																																																																				0.418	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	0	NM_006024		7:27868361
CPA1	1357	broad.mit.edu	37	7	130025029	130025029	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:130025029G>A	ENST00000011292.3	+	8	980	c.830G>A	c.(829-831)gGc>gAc	p.G277D	CPA1_ENST00000484324.1_Missense_Mutation_p.G189D	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	277					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					ACTTACCACGGCAAGTTTGCC	0.562																																						ENST00000011292.3		NA																	0				endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21						c.(829-831)gGc>gAc		carboxypeptidase A1 (pancreatic)							117.0	103.0	108.0					7																	130025029		2203	4300	6503	SO:0001583	missense	1357				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr7:130025029G>A		CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase A"""	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.830G>A	7.37:g.130025029G>A	ENSP00000011292:p.Gly277Asp	False	False		Somatic	0				CPA1_ENST00000484324.1_Missense_Mutation_p.G189D	p.G277D	NM_001868.2	NP_001859.1	WXS	Illumina HiSeq	Phase_I	P15085	CBPA1_HUMAN			8	980	+	Melanoma(18;0.0435)		277					A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Missense_Mutation	SNP	ENST00000011292.3	37	c.830G>A	CCDS5820.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585455	0.86748	.	.	ENSG00000091704	ENST00000011292;ENST00000476062;ENST00000484324	T;T;T	0.07114	3.22;3.22;3.22	5.63	5.63	0.86233	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.50837	0.1639	H	0.99130	4.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73094	-0.4091	10	0.87932	D	0	.	18.6739	0.91521	0.0:0.0:1.0:0.0	.	277;189	P15085;C9JUF9	CBPA1_HUMAN;.	D	277;189;189	ENSP00000011292:G277D;ENSP00000419408:G189D;ENSP00000419497:G189D	ENSP00000011292:G277D	G	+	2	0	CPA1	129812265	1.000000	0.71417	0.730000	0.30809	0.642000	0.38348	9.476000	0.97823	2.660000	0.90430	0.561000	0.74099	GGC		0.562	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349736.2	0	NM_001868		7:130025029
CYB5R1	51706	broad.mit.edu	37	1	202931804	202931804	+	Missense_Mutation	SNP	C	C	G			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:202931804C>G	ENST00000367249.4	-	9	843	c.769G>C	c.(769-771)Gtg>Ctg	p.V257L	CYB5R1_ENST00000497655.1_5'UTR	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	257					sterol biosynthetic process (GO:0016126)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)		Flavin adenine dinucleotide(DB03147)	TCGGCAGTCACAAAGCCCTTG	0.572																																						ENST00000367249.4		NA																	0				breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						c.(769-771)Gtg>Ctg		cytochrome b5 reductase 1							87.0	78.0	81.0					1																	202931804		2203	4300	6503	SO:0001583	missense	51706				sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity	g.chr1:202931804C>G	AF169481	CCDS1431.1	1q32.1	2011-04-08		2005-07-13	ENSG00000159348	ENSG00000159348	1.6.2.2		13397	protein-coding gene	gene with protein product		608341	"""NAD(P)H:quinone oxidoreductase type 3, polypeptide A2"""	NQO3A2		12975309, 10611283	Standard	NM_016243		Approved	humb5R2	uc001gyt.2	Q9UHQ9	OTTHUMG00000041387	ENST00000367249.4:c.769G>C	1.37:g.202931804C>G	ENSP00000356218:p.Val257Leu	True	False		Somatic	0				CYB5R1_ENST00000497655.1_5'UTR	p.V257L	NM_016243.2	NP_057327.2	WXS	Illumina HiSeq	Phase_I	Q9UHQ9	NB5R1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)		9	843	-			257					A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	Missense_Mutation	SNP	ENST00000367249.4	37	c.769G>C	CCDS1431.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.963356	0.74016	.	.	ENSG00000159348	ENST00000367249	D	0.91843	-2.92	6.08	6.08	0.98989	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.081205	0.51477	D	0.000095	D	0.91324	0.7264	L	0.45422	1.42	0.46798	D	0.999203	B	0.20261	0.043	B	0.34242	0.178	D	0.87590	0.2490	10	0.87932	D	0	-4.6296	18.1659	0.89727	0.0:1.0:0.0:0.0	.	257	Q9UHQ9	NB5R1_HUMAN	L	257	ENSP00000356218:V257L	ENSP00000356218:V257L	V	-	1	0	CYB5R1	201198427	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.328000	0.65887	2.894000	0.99253	0.591000	0.81541	GTG		0.572	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099155.1	0	NM_016243		1:202931804
ADH1A	124	broad.mit.edu	37	4	100208113	100208113	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:100208113G>A	ENST00000209668.2	-	3	266	c.153C>T	c.(151-153)gaC>gaT	p.D51D	ADH1A_ENST00000511656.1_5'UTR|RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	51					alcohol metabolic process (GO:0006066)|drug metabolic process (GO:0017144)|ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Ethanol(DB00898)|Fomepizole(DB01213)	TAACCACGTGGTCATCTGTGC	0.478																																						ENST00000209668.2		NA																	0				endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25						c.(151-153)gaC>gaT		alcohol dehydrogenase 1A (class I), alpha polypeptide	Fomepizole(DB01213)|NADH(DB00157)						151.0	135.0	141.0					4																	100208113		2203	4300	6503	SO:0001819	synonymous_variant	124				ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding	g.chr4:100208113G>A	M12963	CCDS3648.1	4q23	2009-12-04			ENSG00000187758	ENSG00000187758	1.1.1.1	"""Alcohol dehydrogenases"""	249	protein-coding gene	gene with protein product		103700		ADH1		3006456	Standard	NM_000667		Approved		uc003hur.2	P07327	OTTHUMG00000131026	ENST00000209668.2:c.153C>T	4.37:g.100208113G>A		False	False		Somatic	0				RP11-696N14.1_ENST00000500358.2_RNA|ADH1A_ENST00000511656.1_5'UTR	p.D51D	NM_000667.3	NP_000658.1	WXS	Illumina HiSeq	Phase_I	P07327	ADH1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	3	266	-			51					A8K3E3|Q17R68	Silent	SNP	ENST00000209668.2	37	c.153C>T	CCDS3648.1																																																																																				0.478	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253669.1	0	NM_000667		4:100208113
CLTCL1	8218	broad.mit.edu	37	22	19196594	19196594	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr22:19196594G>A	ENST00000263200.10	-	21	3352	c.3280C>T	c.(3280-3282)Cgg>Tgg	p.R1094W	CLTCL1_ENST00000442042.2_5'Flank|CLTCL1_ENST00000353891.5_Missense_Mutation_p.R1094W|CLTCL1_ENST00000427926.1_Missense_Mutation_p.R1094W	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1094	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TCATATGCCCGGTCCAGGTTT	0.498			T	?	ALCL																																	ENST00000263200.10		NA		Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(3280-3282)Cgg>Tgg		clathrin, heavy chain-like 1							59.0	61.0	60.0					22																	19196594		2017	4214	6231	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19196594G>A		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.3280C>T	22.37:g.19196594G>A	ENSP00000445677:p.Arg1094Trp	True	False		Somatic	0				CLTCL1_ENST00000427926.1_Missense_Mutation_p.R1094W|CLTCL1_ENST00000353891.5_Missense_Mutation_p.R1094W	p.R1094W	NM_007098.3	NP_009029.3	WXS	Illumina HiSeq	Phase_I	P53675	CLH2_HUMAN			21	3352	-	Colorectal(54;0.0993)		1094			Heavy chain arm.|Proximal segment.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.3280C>T	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.128893	0.56721	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.21543	2.0;2.0;2.0	4.0	2.97	0.34412	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000003	T	0.55386	0.1917	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.982	T	0.67154	-0.5742	10	0.87932	D	0	-7.0273	12.2682	0.54691	0.0:0.0:0.8092:0.1907	.	1094;1094	P53675-2;P53675	.;CLH2_HUMAN	W	1094	ENSP00000439662:R1094W;ENSP00000445677:R1094W;ENSP00000441158:R1094W	ENSP00000445677:R1094W	R	-	1	2	CLTCL1	17576594	1.000000	0.71417	1.000000	0.80357	0.256000	0.26092	5.690000	0.68241	0.812000	0.34326	0.655000	0.94253	CGG		0.498	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	0	NM_007098		22:19196594
SPTA1	6708	broad.mit.edu	37	1	158618342	158618342	+	Missense_Mutation	SNP	C	C	T	rs370505272		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:158618342C>T	ENST00000368147.4	-	26	3851	c.3671G>A	c.(3670-3672)cGg>cAg	p.R1224Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1224					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)					GCCCTCATGCCGTCGCTGAAG	0.502																																						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.(3670-3672)cGg>cAg		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		C	GLN/ARG	1,3897		0,1,1948	118.0	119.0	119.0		3671	3.2	1.0	1		119	0,8256		0,0,4128	no	missense	SPTA1	NM_003126.2	43	0,1,6076	TT,TC,CC		0.0,0.0257,0.0082	benign	1224/2420	158618342	1,12153	1949	4128	6077	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.chr1:158618342C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3671G>A	1.37:g.158618342C>T	ENSP00000357129:p.Arg1224Gln	False	False		Somatic	0					p.R1224Q	NM_003126.2	NP_003117.2	WXS	Illumina HiSeq	Phase_I	P02549	SPTA1_HUMAN			26	3851	-	all_hematologic(112;0.0378)		NA					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.3671G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.696860	0.48202	2.57E-4	0.0	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.49139	0.79;0.79	5.5	3.17	0.36434	.	0.307452	0.17970	N	0.155920	T	0.11153	0.0272	N	0.12422	0.21	0.24601	N	0.99378	B	0.02656	0.0	B	0.08055	0.003	T	0.22730	-1.0208	10	0.26408	T	0.33	.	9.1642	0.37041	0.0:0.1701:0.0:0.8299	.	1224	P02549	SPTA1_HUMAN	Q	1224	ENSP00000357130:R1224Q;ENSP00000357129:R1224Q	ENSP00000357129:R1224Q	R	-	2	0	SPTA1	156884966	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.500000	0.60387	1.111000	0.41721	-0.238000	0.12139	CGG		0.502	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	0	NM_003126		1:158618342
SVEP1	79987	broad.mit.edu	37	9	113169444	113169444	+	Silent	SNP	C	C	T	rs367999136		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:113169444C>T	ENST00000401783.2	-	38	8772	c.8436G>A	c.(8434-8436)agG>agA	p.R2812R	SVEP1_ENST00000297826.5_Silent_p.R738R|SVEP1_ENST00000374469.1_Silent_p.R2789R	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2812	Sushi 23. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGCATGTTCTCCTCTCAGTGC	0.502																																						ENST00000401783.2		NA																	0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(8434-8436)agG>agA		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1		C		0,4120		0,0,2060	146.0	143.0	144.0		8436	1.6	0.4	9		144	1,8393		0,1,4196	no	coding-synonymous	SVEP1	NM_153366.3		0,1,6256	TT,TC,CC		0.0119,0.0,0.0080		2812/3572	113169444	1,12513	2060	4197	6257	SO:0001819	synonymous_variant	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113169444C>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.8436G>A	9.37:g.113169444C>T		False	False		Somatic	0				SVEP1_ENST00000297826.5_Silent_p.R738R|SVEP1_ENST00000374469.1_Silent_p.R2789R	p.R2812R	NM_153366.3	NP_699197.3	WXS	Illumina HiSeq	Phase_I	Q4LDE5	SVEP1_HUMAN			38	8772	-			2812			Sushi 23.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	c.8436G>A	CCDS48004.1																																																																																				0.502	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0			9:113169444
ATM	472	broad.mit.edu	37	11	108158373	108158373	+	Nonsense_Mutation	SNP	T	T	G			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:108158373T>G	ENST00000452508.2	+	28	4229	c.4040T>G	c.(4039-4041)tTa>tGa	p.L1347*	ATM_ENST00000278616.4_Nonsense_Mutation_p.L1347*			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1347					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)			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)	GTGGTGGAGTTATTGATGACG	0.348			"""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		0				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.(4039-4041)tTa>tGa	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							85.0	84.0	84.0					11																	108158373		2201	4298	6499	SO:0001587	stop_gained	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.chr11:108158373T>G	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.4040T>G	11.37:g.108158373T>G	ENSP00000388058:p.Leu1347*	False	False	TSP Lung(14;0.12)	Somatic	0				ATM_ENST00000452508.2_Nonsense_Mutation_p.L1347*	p.L1347*	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)	27	4425	+		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)	1347					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Nonsense_Mutation	SNP	ENST00000452508.2	37	c.4040T>G	CCDS31669.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	46|46	12.766491|12.766491	0.99694|0.99694	.|.	.|.	ENSG00000149311|ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508|ENST00000531525	.|.	.|.	.|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.73536	.|0.3599	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72769	.|-0.4193	.|3	0.02654|.	T|.	1|.	.|.	16.6093|16.6093	0.84858|0.84858	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	X|D	1347|17	.|.	ENSP00000278616:L1347X|.	L|Y	+|+	2|1	0|0	ATM|ATM	107663583|107663583	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.973000|0.973000	0.67179|0.67179	7.196000|7.196000	0.77805|0.77805	2.324000|2.324000	0.78689|0.78689	0.533000|0.533000	0.62120|0.62120	TTA|TAT		0.348	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	0	NM_000051		11:108158373
FAM3C	10447	broad.mit.edu	37	7	121011434	121011434	+	Silent	SNP	G	G	A	rs374629285		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:121011434G>A	ENST00000359943.3	-	5	405	c.192C>T	c.(190-192)tgC>tgT	p.C64C		NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN	family with sequence similarity 3, member C	64					multicellular organismal development (GO:0007275)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	cytokine activity (GO:0005125)			kidney(1)|lung(8)	9	all_neural(327;0.117)					GCTTCTCAGGGCAAGCTTTTG	0.413																																						ENST00000359943.3		NA																	0				kidney(1)|lung(8)	9						c.(190-192)tgC>tgT		family with sequence similarity 3, member C		G	,	0,4406		0,0,2203	96.0	93.0	94.0		192,192	0.5	1.0	7		94	1,8595		0,1,4297	no	coding-synonymous,coding-synonymous	FAM3C	NM_001040020.1,NM_014888.2	,	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	,	64/228,64/228	121011434	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	10447				multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity	g.chr7:121011434G>A	D87120	CCDS5782.1	7q22.1-q31.1	2014-08-14			ENSG00000196937	ENSG00000196937			18664	protein-coding gene	gene with protein product	"""predicted osteoblast protein"", ""interleukin-like EMT inducer"", ""interleukin-like epithelial-mesenchymal transition inducer"""	608618				12160727	Standard	NM_014888		Approved	GS3876, ILEI	uc010lkm.3	Q92520	OTTHUMG00000156979	ENST00000359943.3:c.192C>T	7.37:g.121011434G>A		True	False		Somatic	0					p.C64C	NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	WXS	Illumina HiSeq	Phase_I	Q92520	FAM3C_HUMAN			5	405	-	all_neural(327;0.117)		64					A6NDN2|A8K3R7	Silent	SNP	ENST00000359943.3	37	c.192C>T	CCDS5782.1																																																																																				0.413	FAM3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346945.1	0	NM_001040020		7:121011434
NLRP10	338322	broad.mit.edu	37	11	7982120	7982120	+	Missense_Mutation	SNP	G	G	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:7982120G>T	ENST00000328600.2	-	2	1200	c.1039C>A	c.(1039-1041)Ctc>Atc	p.L347I		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	347	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCTTTGTAGAGAATGTCATTT	0.512																																						ENST00000328600.2		NA																	0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1039-1041)Ctc>Atc		NLR family, pyrin domain containing 10							92.0	83.0	86.0					11																	7982120		2201	4296	6497	SO:0001583	missense	338322						ATP binding	g.chr11:7982120G>T	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1039C>A	11.37:g.7982120G>T	ENSP00000327763:p.Leu347Ile	False	False		Somatic	0					p.L347I	NM_176821.3	NP_789791.1	WXS	Illumina HiSeq	Phase_I	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	1200	-			347			NACHT.		Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	c.1039C>A	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.875656	0.33162	.	.	ENSG00000182261	ENST00000328600	T	0.80480	-1.38	5.11	1.99	0.26369	NACHT nucleoside triphosphatase (1);	0.000000	0.34986	N	0.003539	D	0.87553	0.6206	M	0.90425	3.115	0.18873	N	0.999986	D	0.71674	0.998	D	0.64144	0.922	T	0.77789	-0.2456	10	0.87932	D	0	.	4.2127	0.10519	0.0913:0.1563:0.5919:0.1605	.	347	Q86W26	NAL10_HUMAN	I	347	ENSP00000327763:L347I	ENSP00000327763:L347I	L	-	1	0	NLRP10	7938696	0.995000	0.38212	0.564000	0.28396	0.002000	0.02628	3.441000	0.52893	0.653000	0.30826	-0.176000	0.13171	CTC		0.512	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	0	NM_176821		11:7982120
LRRC32	2615	broad.mit.edu	37	11	76371472	76371472	+	Missense_Mutation	SNP	G	G	A	rs573658243	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:76371472G>A	ENST00000407242.2	-	3	1407	c.1165C>T	c.(1165-1167)Cgg>Tgg	p.R389W	LRRC32_ENST00000404995.1_Missense_Mutation_p.R389W|LRRC32_ENST00000260061.5_Missense_Mutation_p.R389W|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	389					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						AGCAGCGTCCGCAGAGACCCC	0.652													G|||	2	0.000399361	0.0	0.0014	5008	,	,		17671	0.0		0.001	False		,,,				2504	0.0					ENST00000407242.2		NA																	0				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						c.(1165-1167)Cgg>Tgg		leucine rich repeat containing 32							18.0	20.0	20.0					11																	76371472		2200	4292	6492	SO:0001583	missense	2615					integral to plasma membrane		g.chr11:76371472G>A	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.1165C>T	11.37:g.76371472G>A	ENSP00000384126:p.Arg389Trp	False	False		Somatic	0				LRRC32_ENST00000260061.5_Missense_Mutation_p.R389W|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Missense_Mutation_p.R389W|LRRC32_ENST00000464145.1_Intron	p.R389W	NM_005512.2	NP_005503.1	WXS	Illumina HiSeq	Phase_I	Q14392	LRC32_HUMAN			3	1407	-			389					Q86V06	Missense_Mutation	SNP	ENST00000407242.2	37	c.1165C>T	CCDS8245.1	.	.	.	.	.	.	.	.	.	.	G	8.836	0.941139	0.18281	.	.	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995	T;T;T	0.59083	0.29;0.29;0.29	4.27	1.12	0.20585	.	0.538685	0.19466	N	0.113595	T	0.70649	0.3248	M	0.80847	2.515	0.09310	N	1	D	0.71674	0.998	P	0.57846	0.828	T	0.65853	-0.6067	10	0.56958	D	0.05	.	13.4636	0.61241	0.0:0.0:0.4464:0.5536	.	389	Q14392	LRC32_HUMAN	W	389	ENSP00000260061:R389W;ENSP00000384126:R389W;ENSP00000385766:R389W	ENSP00000260061:R389W	R	-	1	2	LRRC32	76049120	0.000000	0.05858	0.121000	0.21740	0.134000	0.20937	0.103000	0.15292	0.054000	0.16065	-0.500000	0.04577	CGG		0.652	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	0	NM_005512		11:76371472
TPSD1	23430	broad.mit.edu	37	16	1306591	1306591	+	Missense_Mutation	SNP	G	G	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:1306591G>T	ENST00000211076.3	+	2	305	c.157G>T	c.(157-159)Gtg>Ttg	p.V53L	TPSD1_ENST00000397534.2_Missense_Mutation_p.V46L|RP11-616M22.5_ENST00000566997.1_RNA	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	53	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				GCCCTGGCAGGTGAGCCTGAG	0.692																																						ENST00000211076.3		NA																	0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20						c.(157-159)Gtg>Ttg		tryptase delta 1							57.0	69.0	65.0					16																	1306591		2199	4300	6499	SO:0001583	missense	23430				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:1306591G>T	AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"""mMCP-7-like II"", ""mMCP-7-like I"", ""MMCP-7-LIKE-2"""	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.157G>T	16.37:g.1306591G>T	ENSP00000211076:p.Val53Leu	False	False		Somatic	0				TPSD1_ENST00000397534.2_Missense_Mutation_p.V46L	p.V53L	NM_012217.2	NP_036349.1	WXS	Illumina HiSeq	Phase_I	Q9BZJ3	TRYD_HUMAN			2	305	+		Hepatocellular(780;0.00369)	53			Peptidase S1.		O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Missense_Mutation	SNP	ENST00000211076.3	37	c.157G>T	CCDS10432.1	.	.	.	.	.	.	.	.	.	.	-	15.49	2.850007	0.51270	.	.	ENSG00000095917	ENST00000397534;ENST00000211076	D;D	0.86865	-2.18;-2.18	3.0	3.0	0.34707	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.43416	D	0.000568	D	0.92577	0.7642	M	0.84326	2.69	0.50813	D	0.999896	D	0.64830	0.994	D	0.71184	0.972	D	0.93238	0.6623	10	0.87932	D	0	.	11.7565	0.51878	0.0:0.0:1.0:0.0	.	53	Q9BZJ3	TRYD_HUMAN	L	46;53	ENSP00000380668:V46L;ENSP00000211076:V53L	ENSP00000211076:V53L	V	+	1	0	TPSD1	1246592	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	3.053000	0.49901	1.642000	0.50584	0.185000	0.17295	GTG		0.692	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2	0			16:1306591
MLH3	27030	broad.mit.edu	37	14	75513333	75513333	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr14:75513333A>G	ENST00000556740.1	-	1	3061	c.3026T>C	c.(3025-3027)gTa>gCa	p.V1009A	MLH3_ENST00000555671.1_5'UTR|MLH3_ENST00000355774.2_Missense_Mutation_p.V1009A|MLH3_ENST00000238662.7_Missense_Mutation_p.V1009A|MLH3_ENST00000544985.1_Missense_Mutation_p.V4A|MLH3_ENST00000556257.1_Missense_Mutation_p.V1009A|MLH3_ENST00000380968.2_5'UTR			Q9UHC1	MLH3_HUMAN	mutL homolog 3	1009					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GGCATCTTCTACCGGATTCAT	0.398								Mismatch excision repair (MMR)																														ENST00000355774.2		NA																	0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44						c.(3025-3027)gTa>gCa	Mismatch excision repair (MMR)	mutL homolog 3							116.0	117.0	117.0					14																	75513333		2203	4300	6503	SO:0001583	missense	27030				mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75513333A>G	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.3026T>C	14.37:g.75513333A>G	ENSP00000452316:p.Val1009Ala	False	False		Somatic	0				MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000555671.1_5'UTR|MLH3_ENST00000556257.1_Missense_Mutation_p.V1009A|MLH3_ENST00000238662.7_Missense_Mutation_p.V1009A|MLH3_ENST00000556740.1_Missense_Mutation_p.V1009A|MLH3_ENST00000544985.1_Missense_Mutation_p.V4A	p.V1009A	NM_001040108.1	NP_001035197.1	WXS	Illumina HiSeq	Phase_I	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	2	3241	-			1009					P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	c.3026T>C	CCDS32123.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.500|6.500	0.460452|0.460452	0.12342|0.12342	.|.	.|.	ENSG00000119684|ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740;ENST00000544985|ENST00000553713	T;T;T;T;T|.	0.81247|.	-1.42;-1.42;-1.47;-1.42;0.25|.	5.19|5.19	-5.73|-5.73	0.02398|0.02398	.|.	1.706310|.	0.02897|.	N|.	0.134820|.	T|.	0.34861|.	0.0912|.	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	N|N	1|1	B;B|.	0.12013|.	0.005;0.004|.	B;B|.	0.11329|.	0.006;0.003|.	T|.	0.39941|.	-0.9589|.	10|.	0.27785|.	T|.	0.31|.	2.2606|2.2606	1.3007|1.3007	0.02078|0.02078	0.3215:0.3316:0.1286:0.2183|0.3215:0.3316:0.1286:0.2183	.|.	1009;1009|.	Q9UHC1-2;Q9UHC1|.	.;MLH3_HUMAN|.	A|Q	1009;1009;1009;1009;4|66	ENSP00000348020:V1009A;ENSP00000238662:V1009A;ENSP00000451540:V1009A;ENSP00000452316:V1009A;ENSP00000441371:V4A|.	ENSP00000238662:V1009A|.	V|X	-|-	2|1	0|0	MLH3|MLH3	74583086|74583086	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.022000|0.022000	0.10575|0.10575	0.147000|0.147000	0.16202|0.16202	-1.130000|-1.130000	0.02914|0.02914	0.528000|0.528000	0.53228|0.53228	GTA|TAG		0.398	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	0	NM_014381		14:75513333
TMEM120B	144404	broad.mit.edu	37	12	122213529	122213529	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:122213529G>A	ENST00000449592.2	+	12	1022	c.921G>A	c.(919-921)gcG>gcA	p.A307A	TMEM120B_ENST00000540377.1_Missense_Mutation_p.V11I	NM_001080825.2	NP_001074294.2	A0PK00	T120B_HUMAN	transmembrane protein 120B	307						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		TCGTACTGGCGTTCACCTTCC	0.607																																						ENST00000540377.1		NA																	0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11						c.(31-33)Gtt>Att		transmembrane protein 120B							68.0	78.0	75.0					12																	122213529		2089	4210	6299	SO:0001819	synonymous_variant	144404					integral to membrane		g.chr12:122213529G>A	BC127768	CCDS41852.1	12q24.31	2007-08-01			ENSG00000188735	ENSG00000188735			32008	protein-coding gene	gene with protein product							Standard	NM_001080825		Approved		uc001ubc.4	A0PK00	OTTHUMG00000169076	ENST00000449592.2:c.921G>A	12.37:g.122213529G>A		False	False		Somatic	0				TMEM120B_ENST00000449592.2_Silent_p.A307A	p.V11I			WXS	Illumina HiSeq	Phase_I	A0PK00	T120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)	6	427	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		0					A0PK01|B3KX33	Missense_Mutation	SNP	ENST00000449592.2	37	c.31G>A	CCDS41852.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.290580	0.40494	.	.	ENSG00000188735	ENST00000540377	.	.	.	5.38	-6.73	0.01749	.	.	.	.	.	T	0.24470	0.0593	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.41106	-0.9527	5	0.87932	D	0	-23.7117	0.8756	0.01223	0.2122:0.259:0.1413:0.3874	.	.	.	.	I	11	.	ENSP00000446159:V11I	V	+	1	0	TMEM120B	120697912	0.000000	0.05858	0.755000	0.31263	0.977000	0.68977	-5.920000	0.00090	-0.965000	0.03591	0.655000	0.94253	GTT		0.607	TMEM120B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402158.1	0	NM_001080825		12:122213529
FHIT	2272	broad.mit.edu	37	3	59999777	59999777	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:59999777C>A	ENST00000468189.1	-	6	575	c.205G>T	c.(205-207)Gtg>Ttg	p.V69L	FHIT_ENST00000341848.4_Missense_Mutation_p.V69L|FHIT_ENST00000476844.1_Missense_Mutation_p.V69L|FHIT_ENST00000466788.1_5'UTR|FHIT_ENST00000492590.1_Missense_Mutation_p.V69L			P49789	FHIT_HUMAN	fragile histidine triad	69	HIT. {ECO:0000255|PROSITE- ProRule:PRU00464}.				DNA replication (GO:0006260)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide metabolic process (GO:0009117)|purine nucleotide metabolic process (GO:0006163)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|catalytic activity (GO:0003824)|hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		TGTTTTTCCACCACTGTCCCG	0.512			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3																													ENST00000468189.1		NA		Dom	yes		3	3p14.2	2272	T	fragile histidine triad gene			E	HMGA2		pleomorphic salivary gland adenoma		0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12						c.(205-207)Gtg>Ttg		fragile histidine triad							98.0	96.0	96.0					3																	59999777		2203	4300	6503	SO:0001583	missense	2272	Renal Cell Cancer associated with constitutional translocation of chromosome 3	Familial Cancer Database		nucleotide metabolic process		bis(5'-adenosyl)-triphosphatase activity|protein binding	g.chr3:59999777C>A	BC032336	CCDS2894.1	3p14.2	2012-02-27	2012-02-27		ENSG00000189283	ENSG00000189283			3701	protein-coding gene	gene with protein product		601153	"""fragile histidine triad gene"""			8598045, 9671749	Standard	NM_002012		Approved	FRA3B, AP3Aase	uc003dky.3	P49789	OTTHUMG00000158591	ENST00000468189.1:c.205G>T	3.37:g.59999777C>A	ENSP00000417480:p.Val69Leu	False	False		Somatic	0				FHIT_ENST00000476844.1_Missense_Mutation_p.V69L|FHIT_ENST00000492590.1_Missense_Mutation_p.V69L|FHIT_ENST00000341848.4_Missense_Mutation_p.V69L|FHIT_ENST00000466788.1_5'UTR	p.V69L			WXS	Illumina HiSeq	Phase_I	P49789	FHIT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)	6	575	-		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)	69			HIT.		A2IAS9|A2IAT0|A2IAT6|A8K1A9|Q45QG9|Q6IU12	Missense_Mutation	SNP	ENST00000468189.1	37	c.205G>T	CCDS2894.1	.	.	.	.	.	.	.	.	.	.	C	2.453	-0.325961	0.05350	.	.	ENSG00000189283	ENST00000492590;ENST00000476844;ENST00000468189;ENST00000341848;ENST00000488467	D;D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.73;-2.73	5.96	4.2	0.49525	Histidine triad motif (1);Histidine triad-like motif (1);	0.063315	0.64402	D	0.000007	T	0.80308	0.4599	N	0.11818	0.18	0.43032	D	0.994607	B	0.09022	0.002	B	0.12837	0.008	T	0.71094	-0.4692	9	.	.	.	-20.1739	11.4337	0.50056	0.0:0.8615:0.0:0.1385	.	69	P49789	FHIT_HUMAN	L	69	ENSP00000418582:V69L;ENSP00000417557:V69L;ENSP00000417480:V69L;ENSP00000342087:V69L;ENSP00000418596:V69L	.	V	-	1	0	FHIT	59974817	1.000000	0.71417	0.992000	0.48379	0.007000	0.05969	2.964000	0.49192	0.875000	0.35847	-0.812000	0.03155	GTG		0.512	FHIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351648.1	0	NM_002012		3:59999777
PDGFC	56034	broad.mit.edu	37	4	157689020	157689020	+	Missense_Mutation	SNP	G	G	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:157689020G>T	ENST00000502773.1	-	5	1316	c.826C>A	c.(826-828)Ctg>Atg	p.L276M	PDGFC_ENST00000542208.1_Missense_Mutation_p.L121M|PDGFC_ENST00000422544.2_Intron|PDGFC_ENST00000541126.1_Missense_Mutation_p.L113M|PDGFC_ENST00000504672.1_5'UTR	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	276					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cellular response to amino acid stimulus (GO:0071230)|central nervous system development (GO:0007417)|organ morphogenesis (GO:0009887)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		CGTTTAACCAGGAGACAACCT	0.448																																						ENST00000502773.1		NA																	0				central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(826-828)Ctg>Atg		platelet derived growth factor C							171.0	156.0	161.0					4																	157689020		2203	4299	6502	SO:0001583	missense	56034				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity	g.chr4:157689020G>T	AF091434	CCDS3795.1	4q32	2008-02-05			ENSG00000145431	ENSG00000145431			8801	protein-coding gene	gene with protein product		608452				10858496, 10858548	Standard	NM_016205		Approved	SCDGF, fallotein	uc003iph.2	Q9NRA1	OTTHUMG00000161803	ENST00000502773.1:c.826C>A	4.37:g.157689020G>T	ENSP00000422464:p.Leu276Met	False	False		Somatic	0				PDGFC_ENST00000542208.1_Missense_Mutation_p.L121M|PDGFC_ENST00000422544.2_Intron|PDGFC_ENST00000541126.1_Missense_Mutation_p.L113M|PDGFC_ENST00000504672.1_5'UTR	p.L276M	NM_016205.2	NP_057289.1	WXS	Illumina HiSeq	Phase_I	Q9NRA1	PDGFC_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)	5	1316	-	all_hematologic(180;0.24)	Renal(120;0.0458)	276					B4DU34|B9EGR8|Q4W5M9|Q9UL22	Missense_Mutation	SNP	ENST00000502773.1	37	c.826C>A	CCDS3795.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.786502	0.70337	.	.	ENSG00000145431	ENST00000502773;ENST00000541126;ENST00000542208	T;T;T	0.48836	2.31;0.81;0.8	5.35	2.69	0.31865	Platelet-derived growth factor (PDGF) (3);	0.000000	0.64402	D	0.000002	T	0.64811	0.2632	M	0.77103	2.36	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.65207	-0.6224	10	0.87932	D	0	-11.8977	8.3211	0.32130	0.2934:0.0:0.7066:0.0	.	121;276	B4E3A5;Q9NRA1	.;PDGFC_HUMAN	M	276;113;121	ENSP00000422464:L276M;ENSP00000442943:L113M;ENSP00000439728:L121M	ENSP00000422464:L276M	L	-	1	2	PDGFC	157908470	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.866000	0.48420	0.645000	0.30675	0.655000	0.94253	CTG		0.448	PDGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366123.1	0			4:157689020
ZNF831	128611	broad.mit.edu	37	20	57766735	57766735	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr20:57766735G>A	ENST00000371030.2	+	1	661	c.661G>A	c.(661-663)Gga>Aga	p.G221R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	221							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGACAAGGCCGGAGAGCCCCC	0.701																																						ENST00000371030.2		NA																	0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(661-663)Gga>Aga		zinc finger protein 831							24.0	31.0	28.0					20																	57766735		1872	4099	5971	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57766735G>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.661G>A	20.37:g.57766735G>A	ENSP00000360069:p.Gly221Arg	False	False		Somatic	0					p.G221R	NM_178457.1	NP_848552.1	WXS	Illumina HiSeq	Phase_I	Q5JPB2	ZN831_HUMAN			1	661	+	all_lung(29;0.0085)		221					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.661G>A	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.585600	0.28268	.	.	ENSG00000124203	ENST00000371030	T	0.05139	3.49	4.89	3.92	0.45320	.	.	.	.	.	T	0.03783	0.0107	L	0.27053	0.805	0.09310	N	1	P	0.43885	0.82	B	0.26517	0.07	T	0.41448	-0.9508	9	0.38643	T	0.18	-0.5148	9.5927	0.39557	0.0805:0.1439:0.7756:0.0	.	221	Q5JPB2	ZN831_HUMAN	R	221	ENSP00000360069:G221R	ENSP00000360069:G221R	G	+	1	0	ZNF831	57200130	0.059000	0.20769	0.001000	0.08648	0.252000	0.25951	1.423000	0.34837	1.030000	0.39839	0.561000	0.74099	GGA		0.701	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	0	NM_178457		20:57766735
KCNS3	3790	broad.mit.edu	37	2	18112885	18112885	+	Missense_Mutation	SNP	G	G	A	rs144701569		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:18112885G>A	ENST00000403915.1	+	3	1061	c.610G>A	c.(610-612)Gtt>Att	p.V204I	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.V204I	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	204					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGCCATGTGCGTTCACAGCAT	0.552																																						ENST00000403915.1		NA																	0				endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(610-612)Gtt>Att		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	67.0	65.0	65.0		610	-2.3	0.0	2	dbSNP_134	65	1,8599	1.2+/-3.3	0,1,4299	no	missense	KCNS3	NM_002252.3	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	204/492	18112885	2,13004	2203	4300	6503	SO:0001583	missense	3790				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	g.chr2:18112885G>A	AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.610G>A	2.37:g.18112885G>A	ENSP00000385968:p.Val204Ile	False	False		Somatic	0				KCNS3_ENST00000304101.4_Missense_Mutation_p.V204I|KCNS3_ENST00000465292.1_Intron	p.V204I	NM_001282428.1	NP_001269357.1	WXS	Illumina HiSeq	Phase_I	Q9BQ31	KCNS3_HUMAN			3	1061	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		204					D6W520|O43651|Q4ZFY1|Q96B56	Missense_Mutation	SNP	ENST00000403915.1	37	c.610G>A	CCDS1692.1	.	.	.	.	.	.	.	.	.	.	G	1.511	-0.549535	0.03996	2.27E-4	1.16E-4	ENSG00000170745	ENST00000403915;ENST00000304101	D;D	0.97455	-4.39;-4.39	6.07	-2.27	0.06846	.	0.373102	0.28865	N	0.013885	D	0.88603	0.6481	N	0.02420	-0.555	0.23712	N	0.997041	B	0.06786	0.001	B	0.04013	0.001	T	0.77643	-0.2511	10	0.39692	T	0.17	.	13.6407	0.62249	0.75:0.0:0.25:0.0	.	204	Q9BQ31	KCNS3_HUMAN	I	204	ENSP00000385968:V204I;ENSP00000305824:V204I	ENSP00000305824:V204I	V	+	1	0	KCNS3	17976366	0.851000	0.29673	0.002000	0.10522	0.531000	0.34715	1.304000	0.33482	-0.533000	0.06323	-1.553000	0.00894	GTT		0.552	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	0	NM_002252		2:18112885
FHL2	2274	broad.mit.edu	37	2	106002866	106002866	+	Silent	SNP	G	G	A	rs201189319	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:106002866G>A	ENST00000409807.1	-	2	442	c.108C>T	c.(106-108)ttC>ttT	p.F36F	FHL2_ENST00000358129.4_Silent_p.F36F|FHL2_ENST00000344213.4_Silent_p.F146F|FHL2_ENST00000409177.1_Silent_p.F152F|FHL2_ENST00000336660.5_Silent_p.F36F|FHL2_ENST00000393353.3_Silent_p.F36F|FHL2_ENST00000322142.8_Silent_p.F36F|FHL2_ENST00000607522.1_Silent_p.F36F|FHL2_ENST00000393352.3_Silent_p.F36F|FHL2_ENST00000408995.1_Silent_p.F36F			Q14192	FHL2_HUMAN	four and a half LIM domains 2	36					androgen receptor signaling pathway (GO:0030521)|atrial cardiac muscle cell development (GO:0055014)|cellular lipid metabolic process (GO:0044255)|heart trabecula formation (GO:0060347)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle cell development (GO:0055015)	actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|M band (GO:0031430)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Z disc (GO:0030018)	androgen receptor binding (GO:0050681)|identical protein binding (GO:0042802)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						AGGTGTTGGCGAACAGGGTCT	0.612													G|||	6	0.00119808	0.0	0.0	5008	,	,		16834	0.0		0.001	False		,,,				2504	0.0051					ENST00000409177.1		NA																	0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						c.(454-456)ttC>ttT		four and a half LIM domains 2							78.0	72.0	74.0					2																	106002866		2203	4300	6503	SO:0001819	synonymous_variant	2274				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding	g.chr2:106002866G>A		CCDS2070.1	2q12.2	2014-09-17			ENSG00000115641	ENSG00000115641			3703	protein-coding gene	gene with protein product		602633				8753811	Standard	NM_201557		Approved	SLIM3, DRAL	uc002tcy.3	Q14192	OTTHUMG00000153120	ENST00000409807.1:c.108C>T	2.37:g.106002866G>A		False	False		Somatic	0				FHL2_ENST00000393353.3_Silent_p.F36F|FHL2_ENST00000344213.4_Silent_p.F146F|FHL2_ENST00000409807.1_Silent_p.F36F|FHL2_ENST00000322142.8_Silent_p.F36F|FHL2_ENST00000408995.1_Silent_p.F36F|FHL2_ENST00000393352.3_Silent_p.F36F|FHL2_ENST00000336660.5_Silent_p.F36F|FHL2_ENST00000358129.4_Silent_p.F36F|FHL2_ENST00000607522.1_Silent_p.F36F	p.F152F			WXS	Illumina HiSeq	Phase_I	Q14192	FHL2_HUMAN			2	577	-			36			LIM zinc-binding 2.		Q13229|Q13644|Q2I5I4|Q5TM15|Q9P294	Silent	SNP	ENST00000409807.1	37	c.456C>T	CCDS2070.1																																																																																				0.612	FHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329654.1	0			2:106002866
TAF7L	54457	broad.mit.edu	37	X	100547881	100547881	+	Silent	SNP	G	G	A	rs375889071		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:100547881G>A	ENST00000372907.3	-	1	164	c.153C>T	c.(151-153)ggC>ggT	p.G51G	TAF7L_ENST00000356784.1_5'Flank|TAF7L_ENST00000372905.2_5'UTR	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	51					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TGCCTTCGTCGCCAGCAATGT	0.562																																					Ovarian(104;431 1530 3210 15406 18594)	ENST00000372907.3		NA																	0				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(151-153)ggC>ggT		TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa		G		0,3835		0,0,0,1632,571	147.0	143.0	144.0		153	-5.8	0.0	X		144	3,6725		0,2,1,2426,1871	no	coding-synonymous	TAF7L	NM_024885.3		0,2,1,4058,2442	AA,AG,A,GG,G		0.0446,0.0,0.0284		51/463	100547881	3,10560	2203	4300	6503	SO:0001819	synonymous_variant	54457				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	g.chrX:100547881G>A	AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"""cancer/testis antigen 40"""	300314	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"""	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.153C>T	X.37:g.100547881G>A		False	False		Somatic	0				TAF7L_ENST00000372905.2_5'UTR	p.G51G	NM_024885.3	NP_079161.3	WXS	Illumina HiSeq	Phase_I	Q5H9L4	TAF7L_HUMAN			1	164	-			51					Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Silent	SNP	ENST00000372907.3	37	c.153C>T	CCDS35347.1																																																																																				0.562	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2	0			X:100547881
C8A	731	broad.mit.edu	37	1	57383364	57383364	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:57383364G>A	ENST00000361249.3	+	11	1826	c.1730G>A	c.(1729-1731)cGg>cAg	p.R577Q		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	577	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TGTCCAGGGCGGAAAGTACAG	0.557																																						ENST00000361249.3		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(1729-1731)cGg>cAg		complement component 8, alpha polypeptide							55.0	55.0	55.0					1																	57383364		2203	4300	6503	SO:0001583	missense	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57383364G>A	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.1730G>A	1.37:g.57383364G>A	ENSP00000354458:p.Arg577Gln	False	False		Somatic	0					p.R577Q	NM_000562.2	NP_000553.1	WXS	Illumina HiSeq	Phase_I	P07357	CO8A_HUMAN			11	1826	+			577			TSP type-1 2.		A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	37	c.1730G>A	CCDS606.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.063564	0.36373	.	.	ENSG00000157131	ENST00000361249	T	0.52057	0.68	4.82	-6.34	0.01982	.	1.636630	0.02956	N	0.142483	T	0.24736	0.0600	N	0.16478	0.41	0.09310	N	1	P	0.46220	0.874	B	0.35688	0.208	T	0.29882	-0.9997	10	0.21014	T	0.42	0.9078	8.9304	0.35666	0.4956:0.1035:0.4009:0.0	.	577	P07357	CO8A_HUMAN	Q	577	ENSP00000354458:R577Q	ENSP00000354458:R577Q	R	+	2	0	C8A	57155952	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.804000	0.01738	-1.030000	0.03312	-0.251000	0.11542	CGG		0.557	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	0	NM_000562		1:57383364
C11orf52	91894	broad.mit.edu	37	11	111796862	111796862	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:111796862C>T	ENST00000278601.5	+	4	407	c.311C>T	c.(310-312)gCg>gTg	p.A104V	CRYAB_ENST00000527950.1_5'Flank|RNA5SP351_ENST00000459480.1_RNA|HSPB2-C11orf52_ENST00000534100.1_3'UTR|C11orf52_ENST00000527286.1_3'UTR|DIXDC1_ENST00000529225.1_5'Flank	NM_080659.2	NP_542390.2	Q96A22	CK052_HUMAN	chromosome 11 open reading frame 52	104						extracellular vesicular exosome (GO:0070062)				lung(2)|ovary(1)	3		all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.63e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.7e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		ACAGAGTATGCGACCCTTCGC	0.547																																						ENST00000278601.5		NA																	0				lung(2)|ovary(1)	3						c.(310-312)gCg>gTg		chromosome 11 open reading frame 52							81.0	70.0	74.0					11																	111796862		2201	4297	6498	SO:0001583	missense	91894							g.chr11:111796862C>T	AK057948	CCDS8353.1	11q23.1	2006-02-06	2006-02-06		ENSG00000149300	ENSG00000149300			30531	protein-coding gene	gene with protein product							Standard	NM_080659		Approved	MGC14839, FLJ25219		Q96A22	OTTHUMG00000166888	ENST00000278601.5:c.311C>T	11.37:g.111796862C>T	ENSP00000278601:p.Ala104Val	False	False		Somatic	0				HSPB2-C11orf52_ENST00000534100.1_3'UTR|C11orf52_ENST00000527286.1_3'UTR	p.A104V	NM_080659.2	NP_542390.2	WXS	Illumina HiSeq	Phase_I	Q96A22	CK052_HUMAN		Epithelial(105;3.63e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.7e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)	4	407	+		all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	104						Missense_Mutation	SNP	ENST00000278601.5	37	c.311C>T	CCDS8353.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373981	0.82573	.	.	ENSG00000149300	ENST00000278601	T	0.58652	0.32	5.07	5.07	0.68467	.	0.000000	0.56097	D	0.000040	T	0.66819	0.2828	L	0.34521	1.04	0.41178	D	0.986213	D	0.89917	1.0	D	0.91635	0.999	T	0.70070	-0.4973	10	0.87932	D	0	-19.5459	15.2968	0.73916	0.0:1.0:0.0:0.0	.	104	Q96A22	CK052_HUMAN	V	104	ENSP00000278601:A104V	ENSP00000278601:A104V	A	+	2	0	C11orf52	111302072	0.992000	0.36948	0.934000	0.37439	0.541000	0.35023	4.038000	0.57318	2.637000	0.89404	0.561000	0.74099	GCG		0.547	C11orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391673.1	0	NM_080659		11:111796862
TRPV3	162514	broad.mit.edu	37	17	3432261	3432261	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:3432261G>A	ENST00000576742.1	-	10	1592	c.1271C>T	c.(1270-1272)cCg>cTg	p.P424L	TRPV3_ENST00000572519.1_Missense_Mutation_p.P424L|TRPV3_ENST00000301365.4_Missense_Mutation_p.P424L	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	424					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	CGTGTGCAGCGGCTCCAGGGT	0.522																																						ENST00000301365.4		NA																	0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35						c.(1270-1272)cCg>cTg		transient receptor potential cation channel, subfamily V, member 3	Menthol(DB00825)						160.0	147.0	152.0					17																	3432261		2203	4300	6503	SO:0001583	missense	162514					integral to membrane	calcium channel activity	g.chr17:3432261G>A	AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.1271C>T	17.37:g.3432261G>A	ENSP00000461518:p.Pro424Leu	False	False		Somatic	0				TRPV3_ENST00000572519.1_Missense_Mutation_p.P424L|TRPV3_ENST00000576742.1_Missense_Mutation_p.P424L	p.P424L			WXS	Illumina HiSeq	Phase_I	Q8NET8	TRPV3_HUMAN			10	1402	-			424					Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	ENST00000576742.1	37	c.1271C>T	CCDS11029.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228444	0.79576	.	.	ENSG00000167723	ENST00000381913;ENST00000301365;ENST00000430263	D	0.91351	-2.83	5.12	5.12	0.69794	.	0.161457	0.43416	D	0.000577	D	0.94358	0.8186	L	0.59912	1.85	0.58432	D	0.999996	D;D;D;D;D;D;D;D	0.89917	1.0;0.965;0.999;1.0;0.999;0.99;0.983;1.0	D;P;D;D;D;P;B;D	0.91635	0.998;0.83;0.951;0.998;0.964;0.523;0.324;0.999	D	0.94807	0.7975	10	0.87932	D	0	-12.014	17.9362	0.89013	0.0:0.0:1.0:0.0	.	6;408;408;424;408;424;424;424	B4E3L1;E7EV24;B7ZKP9;Q2M3L1;B7ZKP6;Q8NET8-3;Q8NET8;Q8NET8-2	.;.;.;.;.;.;TRPV3_HUMAN;.	L	424;424;408	ENSP00000301365:P424L	ENSP00000301365:P424L	P	-	2	0	TRPV3	3379011	1.000000	0.71417	0.995000	0.50966	0.921000	0.55340	7.536000	0.82023	2.563000	0.86464	0.655000	0.94253	CCG		0.522	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	0	NM_145068		17:3432261
PPRC1	23082	broad.mit.edu	37	10	103907024	103907024	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr10:103907024C>T	ENST00000278070.2	+	9	4314	c.4275C>T	c.(4273-4275)cgC>cgT	p.R1425R	PPRC1_ENST00000370012.1_Silent_p.R392R|PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000413464.2_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1425	Arg-rich.|Necessary for interaction with CREB1 and NRF1.|Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GCCGAGGCCGCAACAGCCGTT	0.622																																						ENST00000278070.2		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(4273-4275)cgC>cgT		peroxisome proliferator-activated receptor gamma, coactivator-related 1							77.0	69.0	72.0					10																	103907024		2203	4298	6501	SO:0001819	synonymous_variant	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103907024C>T	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.4275C>T	10.37:g.103907024C>T		False	False		Somatic	0				PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000370012.1_Silent_p.R392R	p.R1425R	NM_015062.3	NP_055877.3	WXS	Illumina HiSeq	Phase_I	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	9	4314	+		Colorectal(252;0.122)	1425			Arg-rich.|Necessary for interaction with CREB1 and NRF1.|Ser-rich.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Silent	SNP	ENST00000278070.2	37	c.4275C>T	CCDS7529.1																																																																																				0.622	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	0	NM_015062		10:103907024
BACH2	60468	broad.mit.edu	37	6	90718567	90718567	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:90718567G>A	ENST00000257749.4	-	0	704				BACH2_ENST00000537989.1_De_novo_Start_OutOfFrame|BACH2_ENST00000343122.3_De_novo_Start_OutOfFrame	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2							cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CAGACATGCCGTTCACACCCT	0.478																																						ENST00000257749.4		NA																	0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45								BTB and CNC homology 1, basic leucine zipper transcription factor 2							94.0	91.0	92.0					6																	90718567		2203	4300	6503			60468					nucleus	protein dimerization activity|sequence-specific DNA binding	g.chr6:90718567G>A	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.-4C>T	6.37:g.90718567G>A		False	False		Somatic	0				BACH2_ENST00000537989.1_De_novo_Start_OutOfFrame|BACH2_ENST00000343122.3_De_novo_Start_OutOfFrame		NM_021813.2	NP_068585.1	WXS	Illumina HiSeq	Phase_I	Q9BYV9	BACH2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0799)	0	704	-		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)	NA					E1P518|Q59H70|Q5T793|Q9NTS5	Translation_Start_Site	SNP	ENST00000257749.4	37		CCDS5026.1																																																																																				0.478	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	0	NM_021813		6:90718567
CSF3R	1441	broad.mit.edu	37	1	36933510	36933510	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:36933510C>T	ENST00000373106.1	-	14	2324	c.1777G>A	c.(1777-1779)Gcc>Acc	p.A593T	CSF3R_ENST00000338937.5_Missense_Mutation_p.A593T|CSF3R_ENST00000440588.2_Missense_Mutation_p.A593T|CSF3R_ENST00000373103.1_Missense_Mutation_p.A593T|CSF3R_ENST00000418048.2_Missense_Mutation_p.A593T|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000361632.4_Missense_Mutation_p.A593T|CSF3R_ENST00000373104.1_Missense_Mutation_p.A593T|CSF3R_ENST00000331941.5_Missense_Mutation_p.A593T	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	593	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TACAGACTGGCGGGCTCCAGG	0.617																																						ENST00000373103.1		NA																	0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1777-1779)Gcc>Acc		colony stimulating factor 3 receptor (granulocyte)	Filgrastim(DB00099)|Pegfilgrastim(DB00019)						53.0	64.0	60.0					1																	36933510		2203	4300	6503	SO:0001583	missense	1441				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr1:36933510C>T	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.1777G>A	1.37:g.36933510C>T	ENSP00000362198:p.Ala593Thr	True	False		Somatic	0				CSF3R_ENST00000373106.1_Missense_Mutation_p.A593T|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000331941.5_Missense_Mutation_p.A593T|CSF3R_ENST00000440588.2_Missense_Mutation_p.A593T|CSF3R_ENST00000361632.4_Missense_Mutation_p.A593T|CSF3R_ENST00000373104.1_Missense_Mutation_p.A593T|CSF3R_ENST00000338937.5_Missense_Mutation_p.A593T|CSF3R_ENST00000418048.2_Missense_Mutation_p.A593T	p.A593T	NM_156039.3	NP_724781.1	WXS	Illumina HiSeq	Phase_I	Q99062	CSF3R_HUMAN			14	2324	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	593			Fibronectin type-III 5.			Missense_Mutation	SNP	ENST00000373106.1	37	c.1777G>A	CCDS413.1	.	.	.	.	.	.	.	.	.	.	C	6.595	0.478114	0.12521	.	.	ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	T;T;T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4	5.33	1.81	0.25067	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.744296	0.13828	N	0.359956	T	0.35740	0.0942	L	0.46157	1.445	0.09310	N	1	P;P;B;P;B;P	0.40398	0.469;0.716;0.002;0.469;0.286;0.534	B;B;B;B;B;B	0.32149	0.085;0.141;0.002;0.085;0.034;0.059	T	0.11446	-1.0587	10	0.19590	T	0.45	-9.9329	7.0017	0.24813	0.4645:0.4454:0.0:0.0901	.	593;593;593;593;593;593	Q1ZYL6;E1B6W6;Q99062-3;Q99062;Q99062-4;Q99062-2	.;.;.;CSF3R_HUMAN;.;.	T	593	ENSP00000362198:A593T;ENSP00000362196:A593T;ENSP00000362195:A593T;ENSP00000355406:A593T;ENSP00000332180:A593T;ENSP00000401588:A593T;ENSP00000345013:A593T;ENSP00000397568:A593T	ENSP00000332180:A593T	A	-	1	0	CSF3R	36706097	0.002000	0.14202	0.616000	0.29078	0.024000	0.10985	0.204000	0.17335	0.573000	0.29400	0.655000	0.94253	GCC		0.617	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	0	NM_156039		1:36933510
PRR16	51334	broad.mit.edu	37	5	120022194	120022194	+	Missense_Mutation	SNP	T	T	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:120022194T>A	ENST00000407149.2	+	2	914	c.705T>A	c.(703-705)agT>agA	p.S235R	PRR16_ENST00000505123.1_Missense_Mutation_p.S165R|PRR16_ENST00000446965.1_Missense_Mutation_p.S165R|PRR16_ENST00000379551.2_Missense_Mutation_p.S212R			Q569H4	LARGN_HUMAN	proline rich 16	235	Pro-rich.				positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)					endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		ACTTACACAGTGAACCTGTCC	0.498																																						ENST00000379551.2		NA																	0				endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28						c.(634-636)agT>agA		proline rich 16							84.0	81.0	82.0					5																	120022194		2203	4300	6503	SO:0001583	missense	51334							g.chr5:120022194T>A	AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.705T>A	5.37:g.120022194T>A	ENSP00000385118:p.Ser235Arg	False	False		Somatic	0				PRR16_ENST00000505123.1_Missense_Mutation_p.S165R|PRR16_ENST00000446965.1_Missense_Mutation_p.S165R|PRR16_ENST00000407149.2_Missense_Mutation_p.S235R	p.S212R	NM_016644.1	NP_057728.1	WXS	Illumina HiSeq	Phase_I	Q569H4	PRR16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)	3	993	+		all_cancers(142;0.0464)|Prostate(80;0.00446)	235			Pro-rich.		D3DSZ0|Q8IXY1|Q9NYI5	Missense_Mutation	SNP	ENST00000407149.2	37	c.636T>A		.	.	.	.	.	.	.	.	.	.	C	0.012	-1.672070	0.00758	.	.	ENSG00000184838	ENST00000407149;ENST00000379551;ENST00000505123;ENST00000446965	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	4.94	-9.87	0.00470	.	0.400671	0.29059	N	0.013275	T	0.29321	0.0730	L	0.44542	1.39	0.21802	N	0.999536	B;B	0.06786	0.001;0.001	B;B	0.12156	0.002;0.007	T	0.20571	-1.0271	9	.	.	.	-0.3315	18.6912	0.91583	0.0:0.1262:0.0786:0.7953	.	235;212	Q569H4;Q569H4-3	PRR16_HUMAN;.	R	235;212;165;165	ENSP00000385118:S235R;ENSP00000368869:S212R;ENSP00000423446:S165R;ENSP00000405491:S165R	.	S	+	3	2	PRR16	120050093	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-4.104000	0.00294	-4.142000	0.00070	-2.918000	0.00090	AGT		0.498	PRR16-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371059.1	0	NM_016644		5:120022194
LRRN1	57633	broad.mit.edu	37	3	3887411	3887411	+	Missense_Mutation	SNP	T	T	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:3887411T>A	ENST00000319331.3	+	2	1847	c.1086T>A	c.(1084-1086)aaT>aaA	p.N362K	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	362						integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CCCTCCCCAATCTGCGTGAGA	0.493																																						ENST00000319331.3		NA																	0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26						c.(1084-1086)aaT>aaA		leucine rich repeat neuronal 1							92.0	84.0	87.0					3																	3887411		2203	4300	6503	SO:0001583	missense	57633					integral to membrane		g.chr3:3887411T>A	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.1086T>A	3.37:g.3887411T>A	ENSP00000314901:p.Asn362Lys	False	False		Somatic	0				SUMF1_ENST00000534863.1_Intron	p.N362K	NM_020873.5	NP_065924.3	WXS	Illumina HiSeq	Phase_I	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	1847	+			362					Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	ENST00000319331.3	37	c.1086T>A	CCDS33685.1	.	.	.	.	.	.	.	.	.	.	T	15.84	2.952617	0.53293	.	.	ENSG00000175928	ENST00000319331	T	0.56444	0.46	5.54	0.382	0.16234	.	0.000000	0.85682	D	0.000000	T	0.49098	0.1537	L	0.45422	1.42	0.43421	D	0.995572	D	0.54772	0.968	P	0.50970	0.655	T	0.39187	-0.9626	10	0.33940	T	0.23	.	10.5818	0.45259	0.0:0.5557:0.0:0.4443	.	362	Q6UXK5	LRRN1_HUMAN	K	362	ENSP00000314901:N362K	ENSP00000314901:N362K	N	+	3	2	LRRN1	3862411	0.893000	0.30496	1.000000	0.80357	0.997000	0.91878	0.012000	0.13287	0.079000	0.16929	0.528000	0.53228	AAT		0.493	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	0	NM_020873		3:3887411
AIFM3	150209	broad.mit.edu	37	22	21332002	21332002	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr22:21332002C>T	ENST00000399167.2	+	15	1536	c.1296C>T	c.(1294-1296)gcC>gcT	p.A432A	AIFM3_ENST00000405089.1_Silent_p.A438A|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000440238.2_Silent_p.A432A|AIFM3_ENST00000399163.2_Silent_p.A432A|AIFM3_ENST00000335375.5_Silent_p.A420A|AIFM3_ENST00000333607.6_Silent_p.A432A	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	432					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CAGTGCCCGCCACAGGCTTCC	0.622																																						ENST00000399167.2		NA																	0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(1294-1296)gcC>gcT		apoptosis-inducing factor, mitochondrion-associated, 3							75.0	70.0	72.0					22																	21332002		2203	4300	6503	SO:0001819	synonymous_variant	150209							g.chr22:21332002C>T	AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.1296C>T	22.37:g.21332002C>T		False	False		Somatic	0				AIFM3_ENST00000440238.2_Silent_p.A432A|AIFM3_ENST00000399163.2_Silent_p.A432A|AIFM3_ENST00000335375.5_Silent_p.A420A|AIFM3_ENST00000405089.1_Silent_p.A438A|AIFM3_ENST00000333607.6_Silent_p.A432A|AIFM3_ENST00000465606.1_3'UTR	p.A432A	NM_144704.2	NP_653305.1	WXS	Illumina HiSeq	Phase_I			LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		15	1536	+	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	NA					B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Silent	SNP	ENST00000399167.2	37	c.1296C>T	CCDS13786.1																																																																																				0.622	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	0	NM_144704		22:21332002
FGA	2243	broad.mit.edu	37	4	155507526	155507526	+	Missense_Mutation	SNP	G	G	T	rs373154873		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:155507526G>T	ENST00000302053.3	-	5	1133	c.1055C>A	c.(1054-1056)cCt>cAt	p.P352H	FGA_ENST00000403106.3_Missense_Mutation_p.P352H	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	352					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	ACCAGGTCTAGGGCTCCCAGG	0.557																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3		NA																	0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	GRCh37	CD001896	FGA	D		c.(1054-1056)cCt>cAt		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						79.0	84.0	82.0					4																	155507526		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155507526G>T		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1055C>A	4.37:g.155507526G>T	ENSP00000306361:p.Pro352His	True	False		Somatic	0				FGA_ENST00000403106.3_Missense_Mutation_p.P352H	p.P352H	NM_000508.3	NP_000499.1	WXS	Illumina HiSeq	Phase_I	P02671	FIBA_HUMAN			5	1133	-	all_hematologic(180;0.215)	Renal(120;0.0458)	352					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.1055C>A	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.806702	0.50421	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	D;D	0.83335	-1.71;-1.71	4.88	1.93	0.25924	.	6.051070	0.00610	N	0.000411	T	0.79347	0.4430	L	0.55990	1.75	0.09310	N	1	B;B	0.14012	0.009;0.005	B;B	0.09377	0.003;0.004	T	0.61426	-0.7065	10	0.66056	D	0.02	.	3.3862	0.07272	0.09:0.1447:0.4692:0.2961	.	352;352	P02671-2;P02671	.;FIBA_HUMAN	H	352	ENSP00000306361:P352H;ENSP00000385981:P352H	ENSP00000306361:P352H	P	-	2	0	FGA	155726976	0.128000	0.22383	0.001000	0.08648	0.271000	0.26615	3.142000	0.50601	0.997000	0.38969	0.557000	0.71058	CCT		0.557	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	0	NM_000508		4:155507526
SLC18A3	6572	broad.mit.edu	37	10	50819229	50819229	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr10:50819229G>A	ENST00000374115.3	+	1	883	c.443G>A	c.(442-444)cGc>cAc	p.R148H	CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000337653.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	148					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						TTCATCGACCGCATGAGCTAC	0.617																																						ENST00000374115.3		NA																	0				endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						c.(442-444)cGc>cAc		solute carrier family 18 (vesicular acetylcholine transporter), member 3							93.0	88.0	89.0					10																	50819229		2203	4300	6503	SO:0001583	missense	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50819229G>A	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.443G>A	10.37:g.50819229G>A	ENSP00000363229:p.Arg148His	False	False		Somatic	0				CHAT_ENST00000339797.1_Intron	p.R148H	NM_003055.2	NP_003046.2	WXS	Illumina HiSeq	Phase_I	Q16572	VACHT_HUMAN			1	883	+			148					B2R7S1	Missense_Mutation	SNP	ENST00000374115.3	37	c.443G>A	CCDS7231.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826104	0.90955	.	.	ENSG00000187714	ENST00000374115	T	0.65549	-0.16	4.8	4.8	0.61643	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	U	0.000001	D	0.83982	0.5372	M	0.93678	3.445	0.58432	D	0.999993	D	0.64830	0.994	D	0.66847	0.947	D	0.88998	0.3419	10	0.87932	D	0	-4.4522	17.8543	0.88758	0.0:0.0:1.0:0.0	.	148	Q16572	VACHT_HUMAN	H	148	ENSP00000363229:R148H	ENSP00000363229:R148H	R	+	2	0	SLC18A3	50489235	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.464000	0.97655	2.203000	0.70933	0.561000	0.74099	CGC		0.617	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	0	NM_003055		10:50819229
FBN2	2201	broad.mit.edu	37	5	127673720	127673720	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:127673720G>A	ENST00000508053.1	-	33	4541	c.3567C>T	c.(3565-3567)caC>caT	p.H1189H	FBN2_ENST00000507835.1_Silent_p.H39H|FBN2_ENST00000508989.1_Silent_p.H1156H|FBN2_ENST00000262464.4_Silent_p.H1189H			P35556	FBN2_HUMAN	fibrillin 2	1189	EGF-like 17; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GTGACAGCTCGTGTCCCAGTG	0.522																																						ENST00000508053.1		NA																	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(3565-3567)caC>caT		fibrillin 2							83.0	71.0	75.0					5																	127673720		2203	4300	6503	SO:0001819	synonymous_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127673720G>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.3567C>T	5.37:g.127673720G>A		False	False		Somatic	0				FBN2_ENST00000262464.4_Silent_p.H1189H|FBN2_ENST00000507835.1_Silent_p.H39H|FBN2_ENST00000508989.1_Silent_p.H1156H	p.H1189H			WXS	Illumina HiSeq	Phase_I	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	33	4541	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1189			EGF-like 17; calcium-binding.		B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.3567C>T	CCDS34222.1																																																																																				0.522	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	0	NM_001999		5:127673720
TBKBP1	9755	broad.mit.edu	37	17	45776015	45776015	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:45776015C>T	ENST00000361722.3	+	4	1357	c.508C>T	c.(508-510)Cgg>Tgg	p.R170W		NM_014726.2	NP_055541.1			TBK1 binding protein 1											endometrium(5)|kidney(1)|lung(1)	7						GCAGCAGCTGCGGCAACAGCA	0.637											OREG0024498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361722.3		NA																	0				endometrium(5)|kidney(1)|lung(1)	7						c.(508-510)Cgg>Tgg		TBK1 binding protein 1							27.0	30.0	29.0					17																	45776015		1999	4172	6171	SO:0001583	missense	9755				innate immune response			g.chr17:45776015C>T	AB018318	CCDS45722.1	17q21.32	2012-05-17				ENSG00000198933			30140	protein-coding gene	gene with protein product		608476				14743216, 19481056	Standard	NM_014726		Approved	ProSAPiP2, KIAA0775	uc002ilu.3	A7MCY6		ENST00000361722.3:c.508C>T	17.37:g.45776015C>T	ENSP00000354777:p.Arg170Trp	False	False		Somatic	0	OREG0024498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	934		p.R170W	NM_014726.2	NP_055541.1	WXS	Illumina HiSeq	Phase_I	A7MCY6	TBKB1_HUMAN			4	1357	+			170						Missense_Mutation	SNP	ENST00000361722.3	37	c.508C>T	CCDS45722.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211562	0.39102	.	.	ENSG00000198933	ENST00000361722;ENST00000537587	T;T	0.47177	0.85;0.85	5.61	5.61	0.85477	.	0.199024	0.40818	N	0.001001	T	0.35480	0.0933	N	0.14661	0.345	0.40791	D	0.983258	D	0.53312	0.959	B	0.44108	0.441	T	0.38672	-0.9650	10	0.87932	D	0	-9.2625	13.9827	0.64315	0.1522:0.8478:0.0:0.0	.	170	A7MCY6	TBKB1_HUMAN	W	170	ENSP00000354777:R170W;ENSP00000446365:R170W	ENSP00000354777:R170W	R	+	1	2	TBKBP1	43131014	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	2.455000	0.44988	2.642000	0.89623	0.650000	0.86243	CGG		0.637	TBKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441363.1	0	NM_014726		17:45776015
CENPJ	55835	broad.mit.edu	37	13	25480968	25480968	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr13:25480968T>C	ENST00000381884.4	-	7	1393	c.1208A>G	c.(1207-1209)aAc>aGc	p.N403S	CENPJ_ENST00000545981.1_Missense_Mutation_p.N403S	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	403					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		AGTGCTCTGGTTAGTCACTAG	0.398																																						ENST00000381884.4		NA																	0				endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1207-1209)aAc>aGc		centromere protein J							83.0	80.0	81.0					13																	25480968		2203	4300	6503	SO:0001583	missense	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25480968T>C	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.1208A>G	13.37:g.25480968T>C	ENSP00000371308:p.Asn403Ser	False	False		Somatic	0				CENPJ_ENST00000545981.1_Missense_Mutation_p.N403S	p.N403S	NM_018451.4	NP_060921.3	WXS	Illumina HiSeq	Phase_I	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	7	1393	-		Lung SC(185;0.0225)|Breast(139;0.0602)	403					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	c.1208A>G	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	T	0.018	-1.471635	0.01044	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.17054	2.3;2.3	5.09	-1.61	0.08399	.	0.965315	0.08613	N	0.919710	T	0.12475	0.0303	L	0.47716	1.5	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.43048	-0.9415	10	0.12103	T	0.63	.	6.8225	0.23864	0.0:0.1472:0.4148:0.438	.	403	Q9HC77	CENPJ_HUMAN	S	403	ENSP00000371308:N403S;ENSP00000441090:N403S	ENSP00000371308:N403S	N	-	2	0	CENPJ	24378968	0.017000	0.18338	0.001000	0.08648	0.629000	0.37895	0.236000	0.17967	-0.400000	0.07656	0.459000	0.35465	AAC		0.398	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	0	NM_018451		13:25480968
EVX2	344191	broad.mit.edu	37	2	176948170	176948170	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:176948170G>A	ENST00000308618.4	-	1	471	c.335C>T	c.(334-336)gCc>gTc	p.A112V		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	112					limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		GCTCATGTCGGCCTCAGCGGC	0.662																																						ENST00000308618.4		NA																	0				kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16						c.(334-336)gCc>gTc		even-skipped homeobox 2							25.0	30.0	28.0					2																	176948170		2202	4300	6502	SO:0001583	missense	344191					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176948170G>A		CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"""Homeoboxes / ANTP class : HOXL subclass"""	3507	protein-coding gene	gene with protein product		142991	"""eve, even-skipped homeobox homolog 2 (Drosophila)"""			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.335C>T	2.37:g.176948170G>A	ENSP00000312385:p.Ala112Val	False	False		Somatic	0					p.A112V	NM_001080458.1	NP_001073927.1	WXS	Illumina HiSeq	Phase_I	Q03828	EVX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)	1	471	-			112						Missense_Mutation	SNP	ENST00000308618.4	37	c.335C>T	CCDS33333.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582621	0.86748	.	.	ENSG00000174279	ENST00000308618	D	0.91740	-2.9	5.43	5.43	0.79202	.	0.185889	0.47455	D	0.000233	D	0.92231	0.7536	L	0.43923	1.385	0.49798	D	0.999827	P	0.52463	0.953	P	0.50109	0.631	D	0.92876	0.6319	10	0.66056	D	0.02	-11.2309	19.2581	0.93955	0.0:0.0:1.0:0.0	.	112	Q03828	EVX2_HUMAN	V	112	ENSP00000312385:A112V	ENSP00000312385:A112V	A	-	2	0	EVX2	176656416	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.476000	0.97823	2.547000	0.85894	0.655000	0.94253	GCC		0.662	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359252.1	0			2:176948170
POM121L9P	29774	broad.mit.edu	37	22	24659805	24659805	+	RNA	SNP	C	C	G			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr22:24659805C>G	ENST00000414583.2	+	0	3330					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		TGCTCCCTATCTGCGCACCCG	0.607																																						ENST00000414583.2		NA																	0					NA																																														0							g.chr22:24659805C>G	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659805C>G		False	False		Somatic	0						NR_003714.1		WXS	Illumina HiSeq	Phase_I					0	3330	+			NA						RNA	SNP	ENST00000414583.2	37																																																																																						0.607	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	0	NM_014549		22:24659805
PLD4	122618	broad.mit.edu	37	14	105396428	105396428	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr14:105396428C>T	ENST00000392593.4	+	6	871	c.703C>T	c.(703-705)Cgg>Tgg	p.R235W	PLD4_ENST00000540372.1_Missense_Mutation_p.R242W|PLD4_ENST00000553861.1_5'Flank	NM_138790.2	NP_620145.2	Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	235	PLD phosphodiesterase 1. {ECO:0000255|PROSITE-ProRule:PRU00153}.				glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phagocytosis (GO:0006909)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|trans-Golgi network membrane (GO:0032588)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase D activity (GO:0004630)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)			CATGGACTGGCGGTCTCTGAC	0.607																																						ENST00000540372.1		NA																	0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13						c.(724-726)Cgg>Tgg		phospholipase D family, member 4	Choline(DB00122)						63.0	67.0	66.0					14																	105396428		2107	4240	6347	SO:0001583	missense	122618				lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity	g.chr14:105396428C>T		CCDS9995.2	14q32.33	2014-01-28	2005-05-20	2005-05-20	ENSG00000166428	ENSG00000166428			23792	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 175"""	C14orf175			Standard	XM_006720024		Approved		uc001ypu.1	Q96BZ4	OTTHUMG00000144167	ENST00000392593.4:c.703C>T	14.37:g.105396428C>T	ENSP00000376372:p.Arg235Trp	False	False		Somatic	0				PLD4_ENST00000392593.4_Missense_Mutation_p.R235W	p.R242W			WXS	Illumina HiSeq	Phase_I	Q96BZ4	PLD4_HUMAN	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		6	916	+		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	235					Q6UWD2	Missense_Mutation	SNP	ENST00000392593.4	37	c.724C>T	CCDS9995.2	.	.	.	.	.	.	.	.	.	.	C	17.78	3.472839	0.63737	.	.	ENSG00000166428	ENST00000540372;ENST00000392593;ENST00000557573	T;T;T	0.25250	2.22;2.22;1.81	3.87	1.82	0.25136	Phospholipase D/Transphosphatidylase (3);	0.000000	0.85682	D	0.000000	T	0.60612	0.2282	H	0.98507	4.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.62291	-0.6885	10	0.87932	D	0	-0.0397	5.2432	0.15483	0.4031:0.4845:0.0:0.1124	.	242;235	F5H2B5;Q96BZ4	.;PLD4_HUMAN	W	242;235;233	ENSP00000438677:R242W;ENSP00000376372:R235W;ENSP00000451278:R233W	ENSP00000376372:R235W	R	+	1	2	PLD4	104467473	1.000000	0.71417	0.994000	0.49952	0.923000	0.55619	1.036000	0.30228	0.735000	0.32537	0.561000	0.74099	CGG		0.607	PLD4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000291348.2	0	NM_138790		14:105396428
GALNT10	55568	broad.mit.edu	37	5	153789282	153789282	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:153789282T>C	ENST00000297107.6	+	9	1483	c.1346T>C	c.(1345-1347)tTc>tCc	p.F449S	GALNT10_ENST00000377661.2_Missense_Mutation_p.F387S|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377657.3_Missense_Mutation_p.F122S|SAP30L-AS1_ENST00000524264.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	449					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			CTGCCCAAATTCTACCCACCC	0.557																																						ENST00000297107.6		NA																	0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(1345-1347)tTc>tCc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)							75.0	83.0	80.0					5																	153789282		2203	4300	6503	SO:0001583	missense	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153789282T>C	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.1346T>C	5.37:g.153789282T>C	ENSP00000297107:p.Phe449Ser	False	False		Somatic	0				GALNT10_ENST00000377657.3_Missense_Mutation_p.F122S|SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000377661.2_Missense_Mutation_p.F387S|SAP30L-AS1_ENST00000519727.1_RNA	p.F449S	NM_198321.3	NP_938080.1	WXS	Illumina HiSeq	Phase_I	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		9	1483	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	449					B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	ENST00000297107.6	37	c.1346T>C	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	T	13.07	2.127633	0.37533	.	.	ENSG00000164574	ENST00000297107;ENST00000377661;ENST00000377657	T;T;T	0.61627	0.48;0.57;0.09	5.02	3.82	0.43975	.	0.218754	0.48767	D	0.000180	T	0.25938	0.0632	N	0.02916	-0.46	0.43771	D	0.996297	B;P;P	0.44816	0.27;0.816;0.844	B;B;B	0.35470	0.199;0.203;0.175	T	0.05338	-1.0891	10	0.22109	T	0.4	.	9.2405	0.37493	0.289:0.0:0.0:0.711	.	387;120;449	Q86SR1-2;D6R8Y1;Q86SR1	.;.;GLT10_HUMAN	S	449;387;122	ENSP00000297107:F449S;ENSP00000366889:F387S;ENSP00000366885:F122S	ENSP00000297107:F449S	F	+	2	0	GALNT10	153769475	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	3.897000	0.56273	0.885000	0.36088	0.459000	0.35465	TTC		0.557	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	0	NM_198321		5:153789282
SIGLEC1	6614	broad.mit.edu	37	20	3682127	3682127	+	Missense_Mutation	SNP	G	G	A	rs200340665		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr20:3682127G>A	ENST00000344754.4	-	6	1389	c.1390C>T	c.(1390-1392)Cgc>Tgc	p.R464C	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R464C	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	464	Ig-like C2-type 4.		R -> H (in dbSNP:rs34924243).		cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CCACTGAAGCGTGGGCTGTGA	0.607																																						ENST00000344754.4		NA																	0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(1390-1392)Cgc>Tgc		sialic acid binding Ig-like lectin 1, sialoadhesin		G	CYS/ARG	0,4406		0,0,2203	103.0	78.0	87.0		1390	4.7	1.0	20		87	1,8599	1.2+/-3.3	0,1,4299	no	missense	SIGLEC1	NM_023068.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	464/1710	3682127	1,13005	2203	4300	6503	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3682127G>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.1390C>T	20.37:g.3682127G>A	ENSP00000341141:p.Arg464Cys	False	False		Somatic	0				SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R464C	p.R464C	NM_023068.3	NP_075556.1	WXS	Illumina HiSeq	Phase_I	Q9BZZ2	SN_HUMAN			6	1389	-			464		R -> H (in dbSNP:rs34924243).	Ig-like C2-type 4.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.1390C>T	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365905	0.61513	0.0	1.16E-4	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.80214	-1.35;-1.35	5.69	4.68	0.58851	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.41294	D	0.000902	D	0.90232	0.6946	M	0.90309	3.105	0.50467	D	0.999875	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.90798	0.4692	10	0.59425	D	0.04	.	11.0231	0.47730	0.0:0.0:0.7041:0.2959	.	464;464	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	C	464	ENSP00000341141:R464C;ENSP00000202578:R464C	ENSP00000202578:R464C	R	-	1	0	SIGLEC1	3630127	0.977000	0.34250	0.968000	0.41197	0.533000	0.34776	1.794000	0.38774	2.676000	0.91093	0.655000	0.94253	CGC		0.607	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	0	NM_023068		20:3682127
ATP12A	479	broad.mit.edu	37	13	25272866	25272866	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr13:25272866G>A	ENST00000381946.3	+	12	1750	c.1583G>A	c.(1582-1584)cGc>cAc	p.R528H	ATP12A_ENST00000218548.6_Missense_Mutation_p.R534H			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	528					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.R528H(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		GCCCCTGAGCGCATCCTAGAG	0.572																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6		NA																	1	Substitution - Missense(1)	p.R528H(1)	large_intestine(1)	breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(1600-1602)cGc>cAc		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						99.0	95.0	97.0					13																	25272866		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25272866G>A	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1583G>A	13.37:g.25272866G>A	ENSP00000371372:p.Arg528His	False	False		Somatic	0				ATP12A_ENST00000381946.3_Missense_Mutation_p.R528H	p.R534H	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	WXS	Illumina HiSeq	Phase_I	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	12	1934	+		Lung SC(185;0.0225)|Breast(139;0.077)	528					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.1601G>A	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.572470	0.65765	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	T;T	0.80480	-1.38;-1.38	5.72	4.88	0.63580	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.062472	0.64402	D	0.000006	D	0.88190	0.6370	M	0.88450	2.955	0.58432	D	0.999999	D;D	0.71674	0.998;0.988	P;P	0.55055	0.767;0.598	D	0.90082	0.4171	10	0.87932	D	0	.	12.5302	0.56111	0.0806:0.0:0.9194:0.0	.	534;528	P54707-2;P54707	.;AT12A_HUMAN	H	534;528	ENSP00000218548:R534H;ENSP00000371372:R528H	ENSP00000218548:R534H	R	+	2	0	ATP12A	24170866	1.000000	0.71417	0.985000	0.45067	0.124000	0.20399	7.849000	0.86908	1.430000	0.47334	0.655000	0.94253	CGC		0.572	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	0	NM_001676		13:25272866
OR52E4	390081	broad.mit.edu	37	11	5905894	5905894	+	Silent	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:5905894C>A	ENST00000316987.2	+	1	394	c.372C>A	c.(370-372)cgC>cgA	p.R124R		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTATGACCGCTTTGTTGCCA	0.443																																						ENST00000316987.2		NA																	0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30						c.(370-372)cgC>cgA		olfactory receptor, family 52, subfamily E, member 4							127.0	112.0	117.0					11																	5905894		2201	4296	6497	SO:0001819	synonymous_variant	390081				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5905894C>A	AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"""GPCR / Class A : Olfactory receptors"""	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.372C>A	11.37:g.5905894C>A		True	False		Somatic	0					p.R124R	NM_001005165.1	NP_001005165.1	WXS	Illumina HiSeq	Phase_I	Q8NGH9	O52E4_HUMAN		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	394	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	124					Q6IFG0	Silent	SNP	ENST00000316987.2	37	c.372C>A	CCDS31401.1																																																																																				0.443	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	0	NM_001005165		11:5905894
ZBED8	63920	broad.mit.edu	37	5	159822466	159822466	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:159822466T>C	ENST00000408953.3	-	2	539	c.32A>G	c.(31-33)tAt>tGt	p.Y11C	C5orf54_ENST00000523213.1_Missense_Mutation_p.Y11C	NM_022090.3	NP_071373.2														breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						gtagcgaacatagtcatcatc	0.423																																						ENST00000408953.3		NA																	0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(31-33)tAt>tGt		chromosome 5 open reading frame 54							135.0	122.0	126.0					5																	159822466		2203	4300	6503	SO:0001583	missense	63920							g.chr5:159822466T>C																												ENST00000408953.3:c.32A>G	5.37:g.159822466T>C	ENSP00000386184:p.Tyr11Cys	False	False		Somatic	0				C5orf54_ENST00000523213.1_Missense_Mutation_p.Y11C	p.Y11C	NM_022090.3	NP_071373.2	WXS	Illumina HiSeq	Phase_I	Q8IZ13	CE054_HUMAN			2	539	-			11						Missense_Mutation	SNP	ENST00000408953.3	37	c.32A>G	CCDS34283.1	.	.	.	.	.	.	.	.	.	.	T	14.21	2.467596	0.43839	.	.	ENSG00000221886	ENST00000408953;ENST00000523213	T;T	0.29142	1.58;1.58	3.19	3.19	0.36642	.	.	.	.	.	T	0.48960	0.1529	M	0.64170	1.965	0.27059	N	0.963595	D	0.89917	1.0	D	0.87578	0.998	T	0.25222	-1.0138	9	0.72032	D	0.01	.	8.1657	0.31226	0.0:0.0:0.0:1.0	.	11	Q8IZ13	CE054_HUMAN	C	11	ENSP00000386184:Y11C;ENSP00000428831:Y11C	ENSP00000386184:Y11C	Y	-	2	0	C5orf54	159755044	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.536000	0.45693	1.706000	0.51276	0.533000	0.62120	TAT		0.423	C5orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374143.1	0			5:159822466
SF3B1	23451	broad.mit.edu	37	2	198266548	198266548	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:198266548T>C	ENST00000335508.6	-	16	2379	c.2288A>G	c.(2287-2289)aAc>aGc	p.N763S	SF3B1_ENST00000462613.1_5'Flank|SNORA4_ENST00000365564.1_RNA	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	763					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AGTATAGTAGTTGGCATATTC	0.323			Mis		myelodysplastic syndrome																																	ENST00000335508.6		NA		Dom	yes		2	2q33.1	23451	Mis	"""splicing factor 3b, subunit 1, 155kDa"""			L			myelodysplastic syndrome		0				NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(2287-2289)aAc>aGc		splicing factor 3b, subunit 1, 155kDa							83.0	90.0	88.0					2																	198266548		2202	4297	6499	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198266548T>C	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2288A>G	2.37:g.198266548T>C	ENSP00000335321:p.Asn763Ser	False	False		Somatic	0					p.N763S	NM_012433.2	NP_036565.2	WXS	Illumina HiSeq	Phase_I	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		16	2379	-			NA					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.2288A>G	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	13.46	2.243402	0.39697	.	.	ENSG00000115524	ENST00000335508	T	0.63255	-0.03	5.71	5.71	0.89125	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.45875	0.1364	N	0.13327	0.33	0.80722	D	1	B	0.11235	0.004	B	0.13407	0.009	T	0.36817	-0.9732	10	0.19147	T	0.46	.	15.9781	0.80086	0.0:0.0:0.0:1.0	.	763	O75533	SF3B1_HUMAN	S	763	ENSP00000335321:N763S	ENSP00000335321:N763S	N	-	2	0	SF3B1	197974793	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.980000	0.88113	2.171000	0.68590	0.533000	0.62120	AAC		0.323	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2	0			2:198266548
GLRA1	2741	broad.mit.edu	37	5	151208496	151208496	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:151208496G>A	ENST00000455880.2	-	8	1331	c.1045C>T	c.(1045-1047)Cgg>Tgg	p.R349W	GLRA1_ENST00000274576.4_Missense_Mutation_p.R349W|GLRA1_ENST00000545569.1_Missense_Mutation_p.R266W			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	349					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGATGTCTCCGCTTCCTCCTG	0.463																																						ENST00000274576.4		NA																	0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23						c.(1045-1047)Cgg>Tgg		glycine receptor, alpha 1	Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						175.0	171.0	172.0					5																	151208496		2203	4300	6503	SO:0001583	missense	2741				muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity	g.chr5:151208496G>A		CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"""Ligand-gated ion channels / Glycine receptors"""	4326	protein-coding gene	gene with protein product	"""startle disease/hyperekplexia"", ""stiff person syndrome"""	138491	"""glycine receptor, alpha 1 (startle disease/hyperekplexia)"""	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.1045C>T	5.37:g.151208496G>A	ENSP00000411593:p.Arg349Trp	False	False		Somatic	0				GLRA1_ENST00000545569.1_Missense_Mutation_p.R266W|GLRA1_ENST00000455880.2_Missense_Mutation_p.R349W	p.R349W	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	WXS	Illumina HiSeq	Phase_I	P23415	GLRA1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		8	1337	-		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	349					B2R6T3|Q14C77|Q6DJV9	Missense_Mutation	SNP	ENST00000455880.2	37	c.1045C>T	CCDS54942.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852768	0.71719	.	.	ENSG00000145888	ENST00000274576;ENST00000455880;ENST00000545569	D;D;D	0.85861	-2.04;-1.93;-2.04	5.07	1.62	0.23740	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.85682	D	0.000000	T	0.82084	0.4960	N	0.14661	0.345	0.45452	D	0.998427	D;D;D	0.65815	0.995;0.994;0.994	P;P;P	0.58820	0.846;0.846;0.761	T	0.82610	-0.0372	10	0.56958	D	0.05	.	13.0356	0.58870	0.0:0.0:0.3181:0.6818	.	349;266;349	P23415;Q14C71;P23415-2	GLRA1_HUMAN;.;.	W	349;349;266	ENSP00000274576:R349W;ENSP00000411593:R349W;ENSP00000445913:R266W	ENSP00000274576:R349W	R	-	1	2	GLRA1	151188689	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.019000	0.41001	0.595000	0.29777	0.650000	0.86243	CGG		0.463	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1	0			5:151208496
HERC2P3	283755	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463																																						ENST00000428453.1		NA																	4	Substitution - Missense(4)	p.A803V(4)	lung(3)|endometrium(1)	central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															116.0	62.0	82.0					15																	20644850		1509	2699	4208			0							g.chr15:20644850G>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20644850G>A		True	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	3097	-			NA						RNA	SNP	ENST00000428453.1	37																																																																																						0.463	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	0	NG_008269		15:20644850
GDPD3	79153	broad.mit.edu	37	16	30124708	30124708	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:30124708G>A	ENST00000406256.3	-	1	469	c.92C>T	c.(91-93)aCg>aTg	p.T31M	MAPK3_ENST00000494643.1_5'Flank|RP11-455F5.4_ENST00000566190.1_RNA	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	31					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						AGCCCTGGGCGTGTGCAGCAG	0.632																																						ENST00000406256.3		NA																	0				biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						c.(91-93)aCg>aTg		glycerophosphodiester phosphodiesterase domain containing 3							111.0	130.0	124.0					16																	30124708		2127	4244	6371	SO:0001583	missense	79153				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr16:30124708G>A	AK026256	CCDS10671.2	16p11.2	2008-02-05			ENSG00000102886	ENSG00000102886			28638	protein-coding gene	gene with protein product							Standard	NM_024307		Approved	MGC4171	uc002dwp.3	Q7L5L3	OTTHUMG00000132106	ENST00000406256.3:c.92C>T	16.37:g.30124708G>A	ENSP00000384363:p.Thr31Met	False	False		Somatic	0					p.T31M	NM_024307.2	NP_077283.2	WXS	Illumina HiSeq	Phase_I	Q7L5L3	GDPD3_HUMAN			1	469	-			31					Q9H652	Missense_Mutation	SNP	ENST00000406256.3	37	c.92C>T	CCDS10671.2	.	.	.	.	.	.	.	.	.	.	G	12.36	1.914207	0.33815	.	.	ENSG00000102886	ENST00000406256	.	.	.	5.98	3.99	0.46301	.	0.464523	0.15839	U	0.242126	T	0.29524	0.0736	L	0.51422	1.61	0.09310	N	0.999993	P	0.48350	0.909	B	0.39027	0.288	T	0.17899	-1.0354	9	0.46703	T	0.11	-1.1997	8.1862	0.31341	0.081:0.0:0.7643:0.1547	.	31	Q7L5L3	GDPD3_HUMAN	M	31	.	ENSP00000384363:T31M	T	-	2	0	GDPD3	30032209	0.013000	0.17824	0.018000	0.16275	0.045000	0.14185	1.987000	0.40687	1.517000	0.48917	-0.182000	0.12963	ACG		0.632	GDPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255144.1	0	NM_024307		16:30124708
CASQ2	845	broad.mit.edu	37	1	116247905	116247905	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:116247905C>T	ENST00000261448.5	-	9	1086	c.847G>A	c.(847-849)Gaa>Aaa	p.E283K	CASQ2_ENST00000456138.2_Missense_Mutation_p.E212K	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	283					cardiac muscle contraction (GO:0060048)|cellular response to caffeine (GO:0071313)|detection of calcium ion (GO:0005513)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|protein polymerization (GO:0051258)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of heart rate (GO:0002027)|regulation of membrane repolarization (GO:0060306)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|sequestering of calcium ion (GO:0051208)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|junctional sarcoplasmic reticulum membrane (GO:0014701)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TCCAGGAATTCGTAGCCATCT	0.502																																						ENST00000261448.5		NA																	0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18						c.(847-849)Gaa>Aaa		calsequestrin 2 (cardiac muscle)							104.0	100.0	101.0					1																	116247905		2203	4300	6503	SO:0001583	missense	845				heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr1:116247905C>T	BC022288	CCDS884.1	1p13.1	2014-09-17			ENSG00000118729	ENSG00000118729		"""Protein disulfide isomerases"""	1513	protein-coding gene	gene with protein product		114251				8406504	Standard	NM_001232		Approved	PDIB2	uc001efx.4	O14958	OTTHUMG00000011970	ENST00000261448.5:c.847G>A	1.37:g.116247905C>T	ENSP00000261448:p.Glu283Lys	False	False		Somatic	0				CASQ2_ENST00000456138.2_Missense_Mutation_p.E212K	p.E283K	NM_001232.3	NP_001223.2	WXS	Illumina HiSeq	Phase_I	O14958	CASQ2_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	9	1086	-	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)	283					B2R7M6|B4DIB0|Q5T1D2|Q8TBW8	Missense_Mutation	SNP	ENST00000261448.5	37	c.847G>A	CCDS884.1	.	.	.	.	.	.	.	.	.	.	C	33	5.228076	0.95173	.	.	ENSG00000118729	ENST00000261448;ENST00000456138;ENST00000446755	T;T	0.79033	-1.23;-1.23	5.58	5.58	0.84498	Thioredoxin-like fold (2);	0.047801	0.85682	D	0.000000	D	0.84929	0.5581	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.964	T	0.80841	-0.1202	10	0.20046	T	0.44	-37.1912	19.1719	0.93581	0.0:1.0:0.0:0.0	.	212;283	B4DIB0;O14958	.;CASQ2_HUMAN	K	283;212;237	ENSP00000261448:E283K;ENSP00000403858:E212K	ENSP00000261448:E283K	E	-	1	0	CASQ2	116049428	1.000000	0.71417	0.984000	0.44739	0.991000	0.79684	7.481000	0.81124	2.632000	0.89209	0.655000	0.94253	GAA		0.502	CASQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033091.1	0	NM_001232		1:116247905
GNB3	2784	broad.mit.edu	37	12	6952186	6952186	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:6952186C>T	ENST00000229264.3	+	5	554	c.149C>T	c.(148-150)aCg>aTg	p.T50M	CDCA3_ENST00000604599.1_5'Flank|GNB3_ENST00000435982.2_Missense_Mutation_p.T50M	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	50					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						ACGCGGCGGACGTTAAGGGGA	0.607																																						ENST00000229264.3		NA																	0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						c.(148-150)aCg>aTg		guanine nucleotide binding protein (G protein), beta polypeptide 3							115.0	97.0	103.0					12																	6952186		2203	4300	6503	SO:0001583	missense	2784				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr12:6952186C>T		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.149C>T	12.37:g.6952186C>T	ENSP00000229264:p.Thr50Met	False	False		Somatic	0				GNB3_ENST00000435982.2_Missense_Mutation_p.T50M	p.T50M	NM_002075.2	NP_002066.1	WXS	Illumina HiSeq	Phase_I	P16520	GBB3_HUMAN			5	554	+			50					Q96B71|Q9BQC0	Missense_Mutation	SNP	ENST00000229264.3	37	c.149C>T	CCDS8564.1	.	.	.	.	.	.	.	.	.	.	C	32	5.110849	0.94292	.	.	ENSG00000111664	ENST00000229264;ENST00000541257;ENST00000541978;ENST00000435982;ENST00000537035	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	5.26	5.26	0.73747	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.79046	0.4380	M	0.70595	2.14	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.73708	0.964;0.981	T	0.80944	-0.1156	10	0.66056	D	0.02	-16.8247	18.8518	0.92235	0.0:1.0:0.0:0.0	.	50;50	E9PCP0;P16520	.;GBB3_HUMAN	M	50	ENSP00000229264:T50M;ENSP00000442002:T50M;ENSP00000414734:T50M;ENSP00000445967:T50M	ENSP00000229264:T50M	T	+	2	0	GNB3	6822447	1.000000	0.71417	0.944000	0.38274	0.965000	0.64279	7.818000	0.86416	2.459000	0.83118	0.491000	0.48974	ACG		0.607	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	0	NM_002075		12:6952186
TGFB2	7042	broad.mit.edu	37	1	218609475	218609475	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:218609475G>A	ENST00000366930.4	+	5	1385	c.918G>A	c.(916-918)gcG>gcA	p.A306A	TGFB2_ENST00000366929.4_Silent_p.A334A|TGFB2_ENST00000479322.1_3'UTR	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	306					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		CTTTGGATGCGGCCTATTGCT	0.438																																						ENST00000366929.4		NA																	0				breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1000-1002)gcG>gcA		transforming growth factor, beta 2							78.0	74.0	75.0					1																	218609475		2203	4300	6503	SO:0001819	synonymous_variant	7042				activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding	g.chr1:218609475G>A	M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"""Endogenous ligands"""	11768	protein-coding gene	gene with protein product	"""prepro-transforming growth factor beta-2"""	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.918G>A	1.37:g.218609475G>A		False	False		Somatic	0				TGFB2_ENST00000479322.1_3'UTR|TGFB2_ENST00000366930.4_Silent_p.A306A	p.A334A	NM_001135599.2	NP_001129071.1	WXS	Illumina HiSeq	Phase_I	P61812	TGFB2_HUMAN		all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)	6	1469	+			306					B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Silent	SNP	ENST00000366930.4	37	c.1002G>A	CCDS1521.1																																																																																				0.438	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	0	NM_003238		1:218609475
GNAS	2778	broad.mit.edu	37	20	57484420	57484420	+	Missense_Mutation	SNP	C	C	T	rs11554273		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr20:57484420C>T	ENST00000371085.3	+	8	1025	c.601C>T	c.(601-603)Cgt>Tgt	p.R201C	GNAS_ENST00000265620.7_Missense_Mutation_p.R186C|GNAS_ENST00000306090.10_Missense_Mutation_p.R187C|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371100.4_Missense_Mutation_p.R844C|GNAS_ENST00000354359.7_Missense_Mutation_p.R202C|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.R830C|GNAS_ENST00000371095.3_Missense_Mutation_p.R187C	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	201			R -> C (in MAS and somatotrophinoma; dbSNP:rs11554273). {ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> G (in MAS). {ECO:0000269|PubMed:10571700}.|R -> H (in MAS, somatotrophinoma and AIMAH1). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:1594625, ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> L (in non-MAS endocrine tumors). {ECO:0000269|PubMed:7751320}.|R -> S (in AIMAH1, pituitary tumor and polyostotic fibrous dysplasia). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:8766942, ECO:0000269|PubMed:9267696}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.R201C(228)|p.R844C(9)|p.R201S(5)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCTTCGCTGCCGTGTCCTGAC	0.428			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000371100.4		NA		Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""	E			pituitary adenoma		242	Substitution - Missense(242)	p.R201C(228)|p.R844C(9)|p.R201S(5)	pituitary(141)|pancreas(35)|large_intestine(14)|ovary(12)|thyroid(10)|adrenal_gland(7)|biliary_tract(6)|parathyroid(5)|liver(3)|kidney(3)|testis(2)|upper_aerodigestive_tract(2)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)	adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(2530-2532)Cgt>Tgt		GNAS complex locus							80.0	78.0	79.0					20																	57484420		2203	4300	6503	SO:0001583	missense	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57484420C>T	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.601C>T	20.37:g.57484420C>T	ENSP00000360126:p.Arg201Cys	False	False	TSP Lung(22;0.16)	Somatic	0				GNAS_ENST00000265620.7_Missense_Mutation_p.R186C|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.R187C|GNAS_ENST00000371102.4_Missense_Mutation_p.R830C|GNAS_ENST00000354359.7_Missense_Mutation_p.R202C|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371095.3_Missense_Mutation_p.R187C|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371085.3_Missense_Mutation_p.R201C	p.R844C	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	WXS	Illumina HiSeq	Phase_I	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		8	3082	+	all_lung(29;0.0104)		201					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371085.3	37	c.2530C>T	CCDS13472.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215896	0.79352	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	D;D;D;D;D;D;D	0.99466	-5.95;-5.95;-5.95;-5.95;-5.95;-2.99;-5.95	5.53	4.53	0.55603	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.99775	0.9907	H	0.99732	4.735	0.80722	D	1	D;D;D;D	0.89917	0.999;0.983;0.979;1.0	D;P;P;D	0.97110	0.939;0.845;0.643;1.0	D	0.96814	0.9599	10	0.87932	D	0	.	13.0593	0.58997	0.2437:0.7563:0.0:0.0	rs11554273	201;202;186;844	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	C	844;830;187;201;202;186;187	ENSP00000360141:R844C;ENSP00000360143:R830C;ENSP00000360136:R187C;ENSP00000360126:R201C;ENSP00000346328:R202C;ENSP00000265620:R186C;ENSP00000304472:R187C	ENSP00000265620:R186C	R	+	1	0	GNAS	56917815	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	4.055000	0.57441	2.596000	0.87737	0.563000	0.77884	CGT		0.428	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	0	NM_000516		20:57484420
PCBP3	54039	broad.mit.edu	37	21	47360016	47360016	+	Missense_Mutation	SNP	A	A	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr21:47360016A>C	ENST00000400314.1	+	15	1320	c.982A>C	c.(982-984)Aaa>Caa	p.K328Q	PCBP3_ENST00000400310.1_Missense_Mutation_p.K308Q|PCBP3_ENST00000449640.1_Missense_Mutation_p.K328Q|PCBP3_ENST00000400308.1_Missense_Mutation_p.K302Q|PCBP3_ENST00000400304.1_Missense_Mutation_p.K318Q|PCBP3_ENST00000400309.1_Missense_Mutation_p.K327Q			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	328	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		AGCTCAGATCAAAATCGCCAA	0.522																																						ENST00000400314.1		NA																	0				biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(982-984)Aaa>Caa		poly(rC) binding protein 3							72.0	79.0	77.0					21																	47360016		2106	4241	6347	SO:0001583	missense	54039				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	g.chr21:47360016A>C	AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"""poly(rC)-binding protein 3"""			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.982A>C	21.37:g.47360016A>C	ENSP00000383168:p.Lys328Gln	True	False		Somatic	0				PCBP3_ENST00000400308.1_Missense_Mutation_p.K302Q|PCBP3_ENST00000400304.1_Missense_Mutation_p.K318Q|PCBP3_ENST00000400310.1_Missense_Mutation_p.K308Q|PCBP3_ENST00000449640.1_Missense_Mutation_p.K328Q|PCBP3_ENST00000400309.1_Missense_Mutation_p.K327Q	p.K328Q			WXS	Illumina HiSeq	Phase_I	P57721	PCBP3_HUMAN		Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)	15	1320	+	all_hematologic(128;0.24)		328			KH 3.		A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Missense_Mutation	SNP	ENST00000400314.1	37	c.982A>C	CCDS42974.2	.	.	.	.	.	.	.	.	.	.	A	21.1	4.102102	0.76983	.	.	ENSG00000183570	ENST00000400314;ENST00000400310;ENST00000400309;ENST00000400308;ENST00000449640;ENST00000346743;ENST00000400305;ENST00000400304	T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56	4.19	3.04	0.35103	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.255699	0.38778	N	0.001576	T	0.42223	0.1193	L	0.45051	1.395	0.54753	D	0.999989	D;D;D;D;P	0.89917	1.0;1.0;0.987;1.0;0.919	D;D;P;D;P	0.91635	0.999;0.998;0.805;0.995;0.73	T	0.09292	-1.0681	10	0.31617	T	0.26	-15.0996	9.4418	0.38673	0.9154:0.0:0.0846:0.0	.	318;302;327;328;308	E9PFP8;P57721-2;P57721-4;P57721;P57721-5	.;.;.;PCBP3_HUMAN;.	Q	328;308;327;302;328;308;279;318	ENSP00000383168:K328Q;ENSP00000383165:K308Q;ENSP00000383164:K327Q;ENSP00000383163:K302Q;ENSP00000401198:K328Q;ENSP00000383160:K279Q;ENSP00000383159:K318Q	ENSP00000330225:K308Q	K	+	1	0	PCBP3	46184444	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	8.536000	0.90627	0.670000	0.31165	0.448000	0.29417	AAA		0.522	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2	0			21:47360016
SIGLECL1	284369	broad.mit.edu	37	19	51767330	51767330	+	Missense_Mutation	SNP	C	C	A	rs374273575		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:51767330C>A	ENST00000316401.7	+	2	385	c.4C>A	c.(4-6)Ctt>Att	p.L2I	CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000593968.1_3'UTR|SIGLECL1_ENST00000597824.1_Missense_Mutation_p.L2I	NM_173635.1	NP_775906.1	Q96PQ1	SIG12_HUMAN	SIGLEC family like 1	0					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										GGAAGTGATGCTTCCACTGCT	0.527																																						ENST00000316401.7		NA																	0					NA						c.(4-6)Ctt>Att		SIGLEC family like 1							154.0	125.0	135.0					19																	51767330		2203	4300	6503	SO:0001583	missense	284369							g.chr19:51767330C>A	AK097554	CCDS12827.1	19q13.33	2013-03-20	2012-07-20	2012-07-20	ENSG00000179213	ENSG00000179213			26856	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 75"", ""sialic acid binding Ig-like lectin 23, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 7"""	C19orf75, SIGLEC23P, SIGLECP7			Standard	NM_173635		Approved	FLJ40235	uc002pwb.1	Q8N7X8	OTTHUMG00000182881	ENST00000316401.7:c.4C>A	19.37:g.51767330C>A	ENSP00000321249:p.Leu2Ile	False	False		Somatic	0				SIGLECL1_ENST00000593968.1_3'UTR|SIGLECL1_ENST00000597824.1_Missense_Mutation_p.L2I|CTD-3187F8.2_ENST00000597569.1_RNA	p.L2I	NM_173635.1	NP_775906.1	WXS	Illumina HiSeq	Phase_I					2	385	+			NA					Q8IYH7	Missense_Mutation	SNP	ENST00000316401.7	37	c.4C>A	CCDS12827.1	.	.	.	.	.	.	.	.	.	.	C	8.228	0.803908	0.16467	.	.	ENSG00000179213	ENST00000316401	T	0.36157	1.27	2.75	0.38	0.16222	.	.	.	.	.	T	0.15478	0.0373	N	0.08118	0	0.09310	N	1	P;B	0.36683	0.565;0.313	B;B	0.33799	0.17;0.105	T	0.13335	-1.0513	9	0.38643	T	0.18	-6.1299	4.9206	0.13867	0.2472:0.5118:0.2409:0.0	.	2;2	B7ZLS6;Q8N7X8	.;CS075_HUMAN	I	2	ENSP00000321249:L2I	ENSP00000321249:L2I	L	+	1	0	C19orf75	56459142	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.661000	0.05311	0.165000	0.19558	0.650000	0.86243	CTT		0.527	SIGLECL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464161.2	0	NM_173635		19:51767330
OR8I2	120586	broad.mit.edu	37	11	55860975	55860975	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:55860975C>A	ENST00000302124.2	+	1	223	c.192C>A	c.(190-192)agC>agA	p.S64R		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TTTTCCTGAGCAATTTAGCAT	0.393																																						ENST00000302124.2		NA																	0				NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53						c.(190-192)agC>agA		olfactory receptor, family 8, subfamily I, member 2							234.0	224.0	227.0					11																	55860975		2201	4296	6497	SO:0001583	missense	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55860975C>A	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.192C>A	11.37:g.55860975C>A	ENSP00000303864:p.Ser64Arg	False	False		Somatic	0					p.S64R	NM_001003750.1	NP_001003750.1	WXS	Illumina HiSeq	Phase_I	Q8N0Y5	OR8I2_HUMAN			1	223	+	Esophageal squamous(21;0.00693)		64					B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	ENST00000302124.2	37	c.192C>A	CCDS31517.1	.	.	.	.	.	.	.	.	.	.	C	6.688	0.495481	0.12762	.	.	ENSG00000172154	ENST00000302124	T	0.01099	5.34	4.5	3.56	0.40772	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	U	0.000185	T	0.02571	0.0078	L	0.49699	1.58	0.09310	N	1	D	0.56968	0.978	P	0.52267	0.694	T	0.38457	-0.9660	10	0.62326	D	0.03	-13.639	11.3591	0.49633	0.0:0.9093:0.0:0.0906	.	64	Q8N0Y5	OR8I2_HUMAN	R	64	ENSP00000303864:S64R	ENSP00000303864:S64R	S	+	3	2	OR8I2	55617551	0.000000	0.05858	0.711000	0.30485	0.023000	0.10783	-3.398000	0.00484	2.225000	0.72522	0.440000	0.28878	AGC		0.393	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	NM_001003750		11:55860975
CENPT	80152	broad.mit.edu	37	16	67859904	67859904	+	IGR	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:67859904C>T	ENST00000562787.1	-	0	2345				TSNAXIP1_ENST00000388833.3_Missense_Mutation_p.R303W|TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.R357W|TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.R288W	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T						chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		GCTGAAGGAACGGGACCAATT	0.612																																						ENST00000388833.3		NA																	0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22						c.(907-909)Cgg>Tgg		translin-associated factor X interacting protein 1							65.0	53.0	57.0					16																	67859904		2198	4300	6498	SO:0001628	intergenic_variant	55815				cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm		g.chr16:67859904C>T	AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"""chromosome 16 open reading frame 56"""	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3			16.37:g.67859904C>T		True	False		Somatic	0				TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.R357W|TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.R288W	p.R303W	NM_018430.2	NP_060900.2	WXS	Illumina HiSeq	Phase_I	Q2TAA8	TXIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)	9	1284	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	303					Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	ENST00000562787.1	37	c.907C>T	CCDS42182.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503197	0.44558	.	.	ENSG00000102904	ENST00000415766;ENST00000388833;ENST00000431934	.	.	.	5.8	4.77	0.60923	.	0.094081	0.43110	D	0.000606	T	0.77212	0.4097	M	0.68952	2.095	0.36487	D	0.868176	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.985;0.999;0.999;0.985;0.999	T	0.82546	-0.0403	9	0.87932	D	0	-20.0397	15.6556	0.77133	0.1458:0.8542:0.0:0.0	.	288;357;93;11;303;288	E7ENJ7;B4DXD0;B4DY78;Q2TAA8-2;Q2TAA8;B4E1H3	.;.;.;.;TXIP1_HUMAN;.	W	288;303;93	.	ENSP00000373485:R303W	R	+	1	2	TSNAXIP1	66417405	1.000000	0.71417	0.993000	0.49108	0.155000	0.21991	1.111000	0.31159	2.735000	0.93741	0.655000	0.94253	CGG		0.612	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	0	NM_025082		16:67859904
PGGT1B	5229	broad.mit.edu	37	5	114598513	114598513	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:114598513G>A	ENST00000419445.1	-	1	56	c.36C>T	c.(34-36)agC>agT	p.S12S	CTC-428G20.6_ENST00000606615.1_RNA|PGGT1B_ENST00000379615.3_Silent_p.S12S	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN	protein geranylgeranyltransferase type I, beta subunit	12					negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|protein geranylgeranylation (GO:0018344)|response to cytokine (GO:0034097)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)	CAAX-protein geranylgeranyltransferase activity (GO:0004662)|protein geranylgeranyltransferase activity (GO:0004661)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)		CTCCCTCACCGCTCCCTGCTA	0.617																																						ENST00000419445.1		NA																	0				breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6						c.(34-36)agC>agT		protein geranylgeranyltransferase type I, beta subunit	Pravastatin(DB00175)						33.0	32.0	32.0					5																	114598513		2202	4300	6502	SO:0001819	synonymous_variant	5229				protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity	g.chr5:114598513G>A		CCDS4116.1	5q23.1	2008-02-05			ENSG00000164219	ENSG00000164219			8895	protein-coding gene	gene with protein product		602031				8106351	Standard	NM_005023		Approved	GGTI, BGGI	uc003kqw.4	P53609	OTTHUMG00000128893	ENST00000419445.1:c.36C>T	5.37:g.114598513G>A		False	False		Somatic	0				CTC-428G20.6_ENST00000606615.1_RNA|PGGT1B_ENST00000379615.3_Silent_p.S12S	p.S12S	NM_005023.3	NP_005014.2	WXS	Illumina HiSeq	Phase_I	P53609	PGTB1_HUMAN		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	1	56	-		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	12					Q5MJP9	Silent	SNP	ENST00000419445.1	37	c.36C>T	CCDS4116.1																																																																																				0.617	PGGT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250855.2	0	NM_005023		5:114598513
UBAP1	51271	broad.mit.edu	37	9	34241398	34241398	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:34241398G>A	ENST00000297661.4	+	4	610	c.375G>A	c.(373-375)caG>caA	p.Q125Q	UBAP1_ENST00000379186.4_Silent_p.Q125Q|UBAP1_ENST00000545103.1_Silent_p.Q189Q|UBAP1_ENST00000543944.1_Silent_p.Q161Q|UBAP1_ENST00000536252.1_Silent_p.Q125Q|UBAP1_ENST00000540348.1_Silent_p.Q125Q|UBAP1_ENST00000359544.2_Silent_p.Q125Q	NM_016525.4	NP_057609.2	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	125					protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)	ubiquitin binding (GO:0043130)			endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			CCAGCTTGCAGCACAACAGCA	0.517																																					NSCLC(109;1074 1634 14978 20375 39620)	ENST00000536252.1		NA																	0				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13						c.(373-375)caG>caA		ubiquitin associated protein 1							158.0	145.0	149.0					9																	34241398		2203	4300	6503	SO:0001819	synonymous_variant	51271					cytoplasm		g.chr9:34241398G>A	AF222043	CCDS6550.1	9p13.3	2008-05-15	2002-08-27	2002-08-30	ENSG00000165006	ENSG00000165006			12461	protein-coding gene	gene with protein product		609787	"""ubiquitin associated protein"""	UBAP			Standard	NM_001171201		Approved		uc011loj.2	Q9NZ09	OTTHUMG00000000430	ENST00000297661.4:c.375G>A	9.37:g.34241398G>A		False	False		Somatic	0				UBAP1_ENST00000540348.1_Silent_p.Q125Q|UBAP1_ENST00000545103.1_Silent_p.Q189Q|UBAP1_ENST00000543944.1_Silent_p.Q161Q|UBAP1_ENST00000297661.4_Silent_p.Q125Q|UBAP1_ENST00000359544.2_Silent_p.Q125Q|UBAP1_ENST00000379186.4_Silent_p.Q125Q	p.Q125Q	NM_001171203.2	NP_001164674.1	WXS	Illumina HiSeq	Phase_I	Q9NZ09	UBAP1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00272)		5	773	+			125					B7Z348|B7Z8N9|D3DRL7|F5GXE2|F5H0J8|Q4V759|Q53FP7|Q5T7B3|Q6FI75|Q8NC52|Q8NCG6|Q8NCH9	Silent	SNP	ENST00000297661.4	37	c.375G>A	CCDS6550.1																																																																																				0.517	UBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001084.1	0			9:34241398
CARD9	64170	broad.mit.edu	37	9	139262214	139262214	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:139262214G>A	ENST00000371732.5	-	8	1309	c.1144C>T	c.(1144-1146)Cgc>Tgc	p.R382C	CARD9_ENST00000371734.3_Missense_Mutation_p.R382C|CARD9_ENST00000460290.1_5'Flank	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	382					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		ACCTGCTTGCGCAGCGCGTCC	0.692																																						ENST00000371732.5		NA																	0				endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15						c.(1144-1146)Cgc>Tgc		caspase recruitment domain family, member 9							37.0	33.0	34.0					9																	139262214		2196	4290	6486	SO:0001583	missense	64170				positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity	g.chr9:139262214G>A	AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.1144C>T	9.37:g.139262214G>A	ENSP00000360797:p.Arg382Cys	False	False		Somatic	0				CARD9_ENST00000371734.3_Missense_Mutation_p.R382C	p.R382C	NM_052813.4	NP_434700.2	WXS	Illumina HiSeq	Phase_I	Q9H257	CARD9_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)	8	1309	-		Myeloproliferative disorder(178;0.0511)	382					Q5SXM5|Q5SXM6|Q9H854	Missense_Mutation	SNP	ENST00000371732.5	37	c.1144C>T	CCDS6997.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428970	0.43122	.	.	ENSG00000187796	ENST00000371734;ENST00000371732	T;T	0.37584	1.19;1.19	3.85	3.85	0.44370	.	0.000000	0.64402	D	0.000007	T	0.56848	0.2013	M	0.75085	2.285	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	T	0.60821	-0.7187	10	0.72032	D	0.01	-22.2626	10.565	0.45167	0.0:0.0:0.6812:0.3188	.	278;382;382	B4DIK5;Q9H257-2;Q9H257	.;.;CARD9_HUMAN	C	382	ENSP00000360799:R382C;ENSP00000360797:R382C	ENSP00000360797:R382C	R	-	1	0	CARD9	138382035	0.998000	0.40836	0.786000	0.31890	0.082000	0.17680	2.856000	0.48341	2.147000	0.66899	0.655000	0.94253	CGC		0.692	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055053.1	0	NM_052813		9:139262214
ZNF595	152687	broad.mit.edu	37	4	59365	59365	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:59365G>A	ENST00000509152.2	+	2	231	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	ZNF595_ENST00000526473.2_Missense_Mutation_p.E16K|ZNF595_ENST00000339368.6_3'UTR			Q8IYB9	ZN595_HUMAN	zinc finger protein 595	16	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		ATTCTCCCCTGAAGAGTGGAA	0.423																																						ENST00000509152.2		NA																	0				endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20						c.(46-48)Gaa>Aaa		zinc finger protein 595							351.0	382.0	372.0					4																	59365		2203	4300	6503	SO:0001583	missense	152687							g.chr4:59365G>A	BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000509152.2:c.46G>A	4.37:g.59365G>A	ENSP00000434858:p.Glu16Lys	False	False		Somatic	0				ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Missense_Mutation_p.E16K	p.E16K			WXS	Illumina HiSeq	Phase_I				Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)	2	231	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)	NA						Missense_Mutation	SNP	ENST00000509152.2	37	c.46G>A		.	.	.	.	.	.	.	.	.	.	G	15.48	2.845681	0.51164	.	.	ENSG00000197701	ENST00000509152;ENST00000526473	T;T	0.03607	3.87;3.87	1.26	1.26	0.21427	Krueppel-associated box (8);	.	.	.	.	T	0.13243	0.0321	.	.	.	0.23991	N	0.996247	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.995	T	0.06023	-1.0850	8	0.72032	D	0.01	.	7.9738	0.30143	0.0:0.0:1.0:0.0	.	16;16	Q8IYB9;Q3SXZ3	ZN595_HUMAN;ZN718_HUMAN	K	16	ENSP00000434858:E16K;ENSP00000437878:E16K	ENSP00000434858:E16K	E	+	1	0	ZNF595	49365	0.808000	0.29022	0.022000	0.16811	0.119000	0.20118	1.629000	0.37071	0.655000	0.30866	0.484000	0.47621	GAA		0.423	ZNF595-004	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000357817.2	0	NM_182524		4:59365
TBCC	6903	broad.mit.edu	37	6	42713174	42713174	+	Missense_Mutation	SNP	T	T	C	rs147066602	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:42713174T>C	ENST00000372876.1	-	1	660	c.638A>G	c.(637-639)aAc>aGc	p.N213S	TBCC_ENST00000244625.2_Missense_Mutation_p.N213S	NM_003192.2	NP_003183	Q15814	TBCC_HUMAN	tubulin folding cofactor C	213	C-CAP/cofactor C-like. {ECO:0000255|PROSITE-ProRule:PRU00659}.				'de novo' posttranslational protein folding (GO:0051084)|cell morphogenesis (GO:0000902)|cellular protein metabolic process (GO:0044267)|GTP catabolic process (GO:0006184)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)	chaperone binding (GO:0051087)|GTPase activity (GO:0003924)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			GACCGTGCAGTTGCTCAGTTC	0.577																																						ENST00000244625.2		NA																	0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14						c.(637-639)aAc>aGc		tubulin folding cofactor C		T	SER/ASN	6,4400	11.4+/-27.6	0,6,2197	62.0	61.0	61.0		638	2.8	0.3	6	dbSNP_134	61	0,8600		0,0,4300	yes	missense	TBCC	NM_003192.2	46	0,6,6497	CC,CT,TT		0.0,0.1362,0.0461	benign	213/347	42713174	6,13000	2203	4300	6503	SO:0001583	missense	6903				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity	g.chr6:42713174T>C	U61234	CCDS4872.1	6p21.1	2008-02-05	2006-11-21		ENSG00000124659	ENSG00000124659			11580	protein-coding gene	gene with protein product		602971	"""tubulin-specific chaperone c"""			8706133, 11847227	Standard	NM_003192		Approved	CFC	uc003osl.3	Q15814	OTTHUMG00000014704	ENST00000372876.1:c.638A>G	6.37:g.42713174T>C	ENSP00000361967:p.Asn213Ser	False	False		Somatic	0				TBCC_ENST00000372876.1_Missense_Mutation_p.N213S	p.N213S			WXS	Illumina HiSeq	Phase_I	Q15814	TBCC_HUMAN	all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)		2	1201	-	Colorectal(47;0.196)		213			C-CAP/cofactor C-like.		Q53Y43|Q5T787	Missense_Mutation	SNP	ENST00000372876.1	37	c.638A>G	CCDS4872.1	.	.	.	.	.	.	.	.	.	.	T	11.16	1.557018	0.27827	0.001362	0.0	ENSG00000124659	ENST00000372876;ENST00000244625	D;D	0.86865	-2.18;-2.18	5.21	2.75	0.32379	CARP motif (1);Tubulin binding cofactor C (1);C-CAP/cofactor C-like domain (1);	0.563969	0.19333	N	0.116844	T	0.72187	0.3429	M	0.65498	2.005	0.34424	D	0.697741	B	0.09022	0.002	B	0.17098	0.017	T	0.60362	-0.7278	10	0.35671	T	0.21	-9.0269	4.8275	0.13423	0.0:0.2054:0.1591:0.6355	.	213	Q15814	TBCC_HUMAN	S	213	ENSP00000361967:N213S;ENSP00000244625:N213S	ENSP00000244625:N213S	N	-	2	0	TBCC	42821152	0.996000	0.38824	0.273000	0.24645	0.604000	0.37047	2.556000	0.45862	0.365000	0.24400	0.383000	0.25322	AAC		0.577	TBCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040559.1	0	NM_003192		6:42713174
TECTA	7007	broad.mit.edu	37	11	121031073	121031073	+	Missense_Mutation	SNP	C	C	T	rs143546623		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:121031073C>T	ENST00000392793.1	+	15	5190	c.4919C>T	c.(4918-4920)cCg>cTg	p.P1640L	TECTA_ENST00000264037.2_Missense_Mutation_p.P1640L			O75443	TECTA_HUMAN	tectorin alpha	1640	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CGAGGGAAGCCGGTGGTAAGC	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		19598	0.001		0.0	False		,,,				2504	0.0					ENST00000392793.1		NA																TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(4918-4920)cCg>cTg		tectorin alpha		C	LEU/PRO	0,4406		0,0,2203	149.0	144.0	146.0		4919	4.8	1.0	11	dbSNP_134	146	1,8597	1.2+/-3.3	0,1,4298	no	missense	TECTA	NM_005422.2	98	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	1640/2156	121031073	1,13003	2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121031073C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4919C>T	11.37:g.121031073C>T	ENSP00000376543:p.Pro1640Leu	False	False		Somatic	0				TECTA_ENST00000264037.2_Missense_Mutation_p.P1640L	p.P1640L			WXS	Illumina HiSeq	Phase_I	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	15	5190	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1640			VWFD 4.			Missense_Mutation	SNP	ENST00000392793.1	37	c.4919C>T	CCDS8434.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.80	2.940023	0.52972	0.0	1.16E-4	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.34275	1.37;1.37	4.77	4.77	0.60923	von Willebrand factor, type D domain (1);	0.067003	0.64402	D	0.000010	T	0.21307	0.0513	N	0.08118	0	0.80722	D	1	D	0.59357	0.985	B	0.43331	0.416	T	0.05835	-1.0861	10	0.09084	T	0.74	.	17.9956	0.89182	0.0:1.0:0.0:0.0	.	1640	O75443	TECTA_HUMAN	L	1640	ENSP00000376543:P1640L;ENSP00000264037:P1640L	ENSP00000264037:P1640L	P	+	2	0	TECTA	120536283	1.000000	0.71417	0.955000	0.39395	0.987000	0.75469	5.902000	0.69869	2.461000	0.83175	0.655000	0.94253	CCG		0.542	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	0	NM_005422		11:121031073
FASTKD5	60493	broad.mit.edu	37	20	3128950	3128950	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr20:3128950C>T	ENST00000380266.3	-	2	1088	c.767G>A	c.(766-768)cGc>cAc	p.R256H	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	256			R -> C (in dbSNP:rs3746700).		cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						AGGTACTTTGCGGCCTAAGTA	0.393																																						ENST00000380266.3		NA																	0				breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						c.(766-768)cGc>cAc		FAST kinase domains 5							43.0	45.0	44.0					20																	3128950		2197	4300	6497	SO:0001583	missense	60493				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr20:3128950C>T	BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.767G>A	20.37:g.3128950C>T	ENSP00000369618:p.Arg256His	False	False		Somatic	0				UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron	p.R256H	NM_021826.4	NP_068598.1	WXS	Illumina HiSeq	Phase_I	Q7L8L6	FAKD5_HUMAN			2	1088	-			256		R -> C (in dbSNP:rs3746700).			Q96JN3|Q9H5D1|Q9H8Y3	Missense_Mutation	SNP	ENST00000380266.3	37	c.767G>A	CCDS13048.1	.	.	.	.	.	.	.	.	.	.	C	2.372	-0.344047	0.05208	.	.	ENSG00000215251	ENST00000380266	T	0.15834	2.39	5.77	-5.54	0.02544	.	0.210965	0.36854	N	0.002379	T	0.07234	0.0183	N	0.20986	0.625	0.09310	N	0.999996	B	0.17268	0.021	B	0.10450	0.005	T	0.35895	-0.9770	10	0.13470	T	0.59	.	7.9106	0.29789	0.0985:0.4191:0.0:0.4824	.	256	Q7L8L6	FAKD5_HUMAN	H	256	ENSP00000369618:R256H	ENSP00000369618:R256H	R	-	2	0	FASTKD5	3076950	0.000000	0.05858	0.084000	0.20598	0.068000	0.16541	-0.182000	0.09726	-1.106000	0.03008	-0.459000	0.05422	CGC		0.393	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2	0	NM_021826		20:3128950
RRN3P2	653390	broad.mit.edu	37	16	29110438	29110438	+	RNA	SNP	T	T	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:29110438T>C	ENST00000564580.1	+	0	1111							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.L368P(6)									TTGCAGTATCTTCAGAGTCTG	0.328																																						ENST00000564580.1		NA																	6	Substitution - Missense(6)	p.L368P(6)	endometrium(5)|kidney(1)		NA																																														0							g.chr16:29110438T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110438T>C		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	1111	+			NA						RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	t	5.164	0.215759	0.09810	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	U	0.000008	T	0.52645	0.1747	.	.	.	.	.	.	.	.	.	.	.	.	T	0.63580	-0.6605	5	0.56958	D	0.05	.	7.5159	0.27600	0.0:0.0:0.0:1.0	.	.	.	.	P	368	.	ENSP00000398611:L368P	L	+	2	0	AC009093.1	29017939	1.000000	0.71417	0.752000	0.31206	0.354000	0.29330	6.384000	0.73177	0.893000	0.36288	0.155000	0.16302	CTT		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	0	NR_003369		16:29110438
WDR6	11180	broad.mit.edu	37	3	49049353	49049353	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:49049353T>C	ENST00000608424.1	+	2	425	c.386T>C	c.(385-387)aTa>aCa	p.I129T	WDR6_ENST00000395474.3_Missense_Mutation_p.I159T|WDR6_ENST00000489684.1_Intron|WDR6_ENST00000448293.1_Missense_Mutation_p.I78T|WDR6_ENST00000415265.2_Intron			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	129					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GAGGGAAATATAGCCTTGGCC	0.557																																						ENST00000395474.3		NA																	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(475-477)aTa>aCa		WD repeat domain 6							77.0	75.0	76.0					3																	49049353		2203	4300	6503	SO:0001583	missense	11180				cell cycle arrest|negative regulation of cell proliferation	cytoplasm		g.chr3:49049353T>C	AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.386T>C	3.37:g.49049353T>C	ENSP00000477389:p.Ile129Thr	False	False		Somatic	0				WDR6_ENST00000415265.2_Intron|WDR6_ENST00000608424.1_Missense_Mutation_p.I129T|WDR6_ENST00000448293.1_Missense_Mutation_p.I78T|WDR6_ENST00000489684.1_Intron	p.I159T	NM_018031.3	NP_060501.3	WXS	Illumina HiSeq	Phase_I	Q9NNW5	WDR6_HUMAN		Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)	2	756	+			129					B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	ENST00000608424.1	37	c.476T>C		.	.	.	.	.	.	.	.	.	.	T	4.790	0.146928	0.09134	.	.	ENSG00000178252	ENST00000395474;ENST00000438660;ENST00000354294;ENST00000448293	T;T;T	0.75938	-0.49;-0.49;-0.98	5.43	5.43	0.79202	WD40 repeat-like-containing domain (1);	0.715972	0.12669	N	0.448892	T	0.62588	0.2440	N	0.19112	0.55	0.09310	N	1	B;B	0.23735	0.003;0.09	B;B	0.16722	0.006;0.016	T	0.54214	-0.8327	10	0.40728	T	0.16	-0.1838	14.4632	0.67465	0.0:0.0:0.0:1.0	.	129;78	Q9NNW5;E9PDU5	WDR6_HUMAN;.	T	159;161;129;78	ENSP00000378857:I159T;ENSP00000387692:I161T;ENSP00000413432:I78T	ENSP00000346247:I129T	I	+	2	0	WDR6	49024357	0.984000	0.35163	0.098000	0.21074	0.245000	0.25701	6.731000	0.74785	2.060000	0.61445	0.459000	0.35465	ATA		0.557	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1	0			3:49049353
RAD54B	25788	broad.mit.edu	37	8	95403999	95403999	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr8:95403999G>A	ENST00000336148.5	-	10	1771	c.1647C>T	c.(1645-1647)tgC>tgT	p.C549C		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	549					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)	p.C549C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			CTCCTGGTCGGCAAAAGACAA	0.398								Direct reversal of damage;Homologous recombination																														ENST00000336148.5		NA																	1	Substitution - coding silent(1)	p.C549C(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1645-1647)tgC>tgT	Direct reversal of damage;Homologous recombination	RAD54 homolog B (S. cerevisiae)							120.0	126.0	124.0					8																	95403999		2203	4300	6503	SO:0001819	synonymous_variant	25788				double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	g.chr8:95403999G>A	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.1647C>T	8.37:g.95403999G>A		False	False		Somatic	0					p.C549C	NM_012415.3	NP_036547.1	WXS	Illumina HiSeq	Phase_I	O95073	FSBP_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00217)		10	1771	-	Breast(36;4.5e-05)		0					F6WBS8	Silent	SNP	ENST00000336148.5	37	c.1647C>T	CCDS6262.1																																																																																				0.398	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	0	NM_012415		8:95403999
BPIFB4	149954	broad.mit.edu	37	20	31673895	31673895	+	Missense_Mutation	SNP	G	G	A	rs200540628	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr20:31673895G>A	ENST00000375483.3	+	5	851	c.851G>A	c.(850-852)cGc>cAc	p.R284H		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	284						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										ACCATGGACCGCACGGGTTAT	0.592													G|||	2	0.000399361	0.0	0.0	5008	,	,		21226	0.001		0.0	False		,,,				2504	0.001					ENST00000375483.3		NA																	0					NA						c.(850-852)cGc>cAc		BPI fold containing family B, member 4							118.0	99.0	105.0					20																	31673895		2203	4300	6503	SO:0001583	missense	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31673895G>A	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.851G>A	20.37:g.31673895G>A	ENSP00000364632:p.Arg284His	False	False		Somatic	0					p.R284H	NM_182519.2	NP_872325.2	WXS	Illumina HiSeq	Phase_I	P59827	LPLC4_HUMAN			5	851	+			284					Q5TDX6	Missense_Mutation	SNP	ENST00000375483.3	37	c.851G>A	CCDS13213.2	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	19.57	3.852447	0.71719	.	.	ENSG00000186191	ENST00000375483	T	0.05580	3.42	3.94	3.94	0.45596	.	0.322425	0.26352	N	0.024879	T	0.08670	0.0215	N	0.08118	0	0.33665	D	0.610209	D	0.76494	0.999	D	0.63877	0.919	T	0.31223	-0.9951	10	0.51188	T	0.08	-8.7129	11.3408	0.49531	0.0:0.0:1.0:0.0	.	284	P59827	BPIB4_HUMAN	H	284	ENSP00000364632:R284H	ENSP00000364632:R284H	R	+	2	0	BPIFB4	31137556	0.998000	0.40836	1.000000	0.80357	0.968000	0.65278	2.788000	0.47806	2.028000	0.59812	0.491000	0.48974	CGC		0.592	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	0	NM_182519		20:31673895
ZNF300	91975	broad.mit.edu	37	5	150275578	150275578	+	Missense_Mutation	SNP	G	G	A	rs141369580		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:150275578G>A	ENST00000274599.5	-	6	1643	c.1223C>T	c.(1222-1224)cCg>cTg	p.P408L	ZNF300_ENST00000446148.2_Missense_Mutation_p.P424L|ZNF300_ENST00000418587.2_Missense_Mutation_p.P372L|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000394226.2_Missense_Mutation_p.P408L	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	408					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACACTCATACGGCTTCTCTCC	0.448																																						ENST00000446148.2		NA																	0				endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27						c.(1270-1272)cCg>cTg		zinc finger protein 300		G	LEU/PRO,LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	57.0	55.0	56.0		1271,1115,1223	3.0	0.9	5	dbSNP_134	56	0,8600		0,0,4300	no	missense,missense,missense	ZNF300	NM_001172831.1,NM_001172832.1,NM_052860.2	98,98,98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	424/621,372/569,408/605	150275578	1,13005	2203	4300	6503	SO:0001583	missense	91975				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:150275578G>A	AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"""Zinc fingers, C2H2-type"", ""-"""	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.1223C>T	5.37:g.150275578G>A	ENSP00000274599:p.Pro408Leu	False	False		Somatic	0				ZNF300_ENST00000418587.2_Missense_Mutation_p.P372L|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000274599.5_Missense_Mutation_p.P408L|ZNF300_ENST00000394226.2_Missense_Mutation_p.P408L	p.P424L	NM_001172831.1	NP_001166302.1	WXS	Illumina HiSeq	Phase_I	Q96RE9	ZN300_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1698	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	408					A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	ENST00000274599.5	37	c.1271C>T	CCDS4311.2	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494842	0.64186	2.27E-4	0.0	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000394226	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	3.87	2.95	0.34219	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40546	0.1121	M	0.81614	2.55	0.45946	D	0.998776	D	0.89917	1.0	D	0.77004	0.989	T	0.33624	-0.9861	9	0.87932	D	0	.	10.3154	0.43734	0.0:0.0:0.8014:0.1986	.	408	Q96RE9	ZN300_HUMAN	L	424;408;372;408	ENSP00000397178:P424L;ENSP00000274599:P408L;ENSP00000392593:P372L;ENSP00000377773:P408L	ENSP00000274599:P408L	P	-	2	0	ZNF300	150255771	1.000000	0.71417	0.945000	0.38365	0.930000	0.56654	6.825000	0.75293	0.913000	0.36797	0.591000	0.81541	CCG		0.448	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		0	NM_052860		5:150275578
ANO4	121601	broad.mit.edu	37	12	101336205	101336205	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:101336205G>A	ENST00000392977.3	+	5	558	c.348G>A	c.(346-348)aaG>aaA	p.K116K	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000538618.1_Silent_p.K282K|ANO4_ENST00000392979.3_Silent_p.K81K			Q32M45	ANO4_HUMAN	anoctamin 4	116					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GAGATGGAAAGTGTCGAATTG	0.388										HNSCC(74;0.22)																												ENST00000392979.3		NA																	0				NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(241-243)aaG>aaA		anoctamin 4							139.0	141.0	141.0					12																	101336205		2203	4300	6503	SO:0001819	synonymous_variant	121601					chloride channel complex	chloride channel activity	g.chr12:101336205G>A	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.348G>A	12.37:g.101336205G>A		True	False	HNSCC(74;0.22)	Somatic	0				ANO4_ENST00000392977.3_Silent_p.K116K|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000538618.1_Silent_p.K282K	p.K81K	NM_178826.3	NP_849148.2	WXS	Illumina HiSeq	Phase_I	Q32M45	ANO4_HUMAN			4	604	+			116					Q8NAJ0|Q8NB39|Q8NB53	Silent	SNP	ENST00000392977.3	37	c.243G>A																																																																																					0.388	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	0	NM_178826		12:101336205
DEPDC5	9681	broad.mit.edu	37	22	32229984	32229984	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr22:32229984A>G	ENST00000536766.1	+	22	2041	c.1870A>G	c.(1870-1872)Act>Gct	p.T624A	DEPDC5_ENST00000400249.2_Intron|DEPDC5_ENST00000382112.3_Intron|DEPDC5_ENST00000535622.1_Intron|DEPDC5_ENST00000382111.2_Intron|DEPDC5_ENST00000400246.1_Intron|DEPDC5_ENST00000400248.2_Intron|DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000266091.3_Intron			O75140	DEPD5_HUMAN	DEP domain containing 5	0					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GGGGCAGCTGACTGGGGAAAG	0.502																																						ENST00000536766.1		NA																	0				breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(1870-1872)Act>Gct		DEP domain containing 5							133.0	130.0	131.0					22																	32229984		1927	4124	6051	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32229984A>G	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000536766.1:c.1870A>G	22.37:g.32229984A>G	ENSP00000441358:p.Thr624Ala	False	False		Somatic	0				DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000266091.3_Intron|DEPDC5_ENST00000400249.2_Intron|DEPDC5_ENST00000382111.2_Intron|DEPDC5_ENST00000382112.3_Intron|DEPDC5_ENST00000400248.2_Intron|DEPDC5_ENST00000400246.1_Intron|DEPDC5_ENST00000535622.1_Intron	p.T624A			WXS	Illumina HiSeq	Phase_I	O75140	DEPD5_HUMAN			22	2041	+			0					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000536766.1	37	c.1870A>G		.	.	.	.	.	.	.	.	.	.	A	12.92	2.082595	0.36758	.	.	ENSG00000100150	ENST00000536766	T	0.29917	1.55	5.56	-2.4	0.06583	.	.	.	.	.	T	0.15696	0.0378	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30822	-0.9965	7	.	.	.	.	7.1367	0.25533	0.2435:0.0:0.593:0.1635	.	624	F5GYZ8	.	A	624	ENSP00000441358:T624A	.	T	+	1	0	DEPDC5	30559984	0.000000	0.05858	0.000000	0.03702	0.530000	0.34684	-0.267000	0.08619	-0.416000	0.07473	0.450000	0.29827	ACT		0.502	DEPDC5-206	KNOWN	basic	protein_coding	protein_coding		0	NM_014662		22:32229984
ERC1	23085	broad.mit.edu	37	12	1221474	1221474	+	Intron	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:1221474G>A	ENST00000397203.2	+	6	1807				ERC1_ENST00000543086.3_Intron|ERC1_ENST00000546231.2_Intron|ERC1_ENST00000355446.5_Intron|ERC1_ENST00000589028.1_Intron|ERC1_ENST00000536573.2_Splice_Site|ERC1_ENST00000360905.4_Intron			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1						I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GGTCTTTGCCGTAAGATTTAC	0.502																																						ENST00000536573.2		NA																	0				NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.e4+1		ELKS/RAB6-interacting/CAST family member 1							119.0	109.0	113.0					12																	1221474		2203	4300	6503	SO:0001627	intron_variant	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1221474G>A	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.1401+10G>A	12.37:g.1221474G>A		False	False		Somatic	0				ERC1_ENST00000397203.2_Intron|ERC1_ENST00000360905.4_Intron|ERC1_ENST00000546231.2_Intron|ERC1_ENST00000355446.5_Intron|ERC1_ENST00000589028.1_Intron|ERC1_ENST00000543086.3_Intron				WXS	Illumina HiSeq	Phase_I	Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		4	332	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		NA					A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Splice_Site	SNP	ENST00000397203.2	37		CCDS8508.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679965	0.88542	.	.	ENSG00000082805	ENST00000536573	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1248	0.93378	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ERC1	1091735	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.226000	0.95229	2.535000	0.85469	0.585000	0.79938	.		0.502	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	0	NM_015064		12:1221474
CLCN6	1185	broad.mit.edu	37	1	11883815	11883815	+	Missense_Mutation	SNP	G	G	A	rs199676414	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:11883815G>A	ENST00000346436.6	+	7	557	c.505G>A	c.(505-507)Gta>Ata	p.V169I	CLCN6_ENST00000376496.3_Missense_Mutation_p.V169I|CLCN6_ENST00000376487.3_Missense_Mutation_p.V147I|CLCN6_ENST00000312413.6_Missense_Mutation_p.V169I|CLCN6_ENST00000376492.3_3'UTR	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	169					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGAATGGCGTAAAGGTGCC	0.552													G|||	2	0.000399361	0.0	0.0	5008	,	,		20245	0.002		0.0	False		,,,				2504	0.0					ENST00000346436.6		NA																	0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36						c.(505-507)Gta>Ata		chloride channel, voltage-sensitive 6							128.0	110.0	116.0					1																	11883815		2203	4300	6503	SO:0001583	missense	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr1:11883815G>A	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.505G>A	1.37:g.11883815G>A	ENSP00000234488:p.Val169Ile	False	False		Somatic	0				CLCN6_ENST00000312413.6_Missense_Mutation_p.V169I|CLCN6_ENST00000376496.3_Missense_Mutation_p.V169I|CLCN6_ENST00000376487.3_Missense_Mutation_p.V147I|CLCN6_ENST00000376492.3_3'UTR	p.V169I	NM_001286.3	NP_001277	WXS	Illumina HiSeq	Phase_I	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	7	557	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	169					A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	37	c.505G>A	CCDS138.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.13	3.555826	0.65425	.	.	ENSG00000011021	ENST00000312413;ENST00000346436;ENST00000376487;ENST00000376496;ENST00000376490;ENST00000376491;ENST00000376492	D;D;D;D	0.94613	-3.47;-3.47;-3.47;-3.47	5.97	5.97	0.96955	Chloride channel, core (2);	0.053524	0.85682	D	0.000000	D	0.89100	0.6619	N	0.25647	0.755	0.58432	D	0.99999	B;B;P;P;B	0.48503	0.105;0.442;0.911;0.823;0.128	B;B;B;B;B	0.36989	0.016;0.098;0.238;0.181;0.027	D	0.87899	0.2689	10	0.21014	T	0.42	-32.7531	17.5798	0.87963	0.0:0.0:1.0:0.0	.	147;169;169;169;169	F8W9R3;P51797-3;P51797-4;P51797-2;P51797	.;.;.;.;CLCN6_HUMAN	I	169;169;147;169;169;169;169	ENSP00000308367:V169I;ENSP00000234488:V169I;ENSP00000365670:V147I;ENSP00000365679:V169I	ENSP00000308367:V169I	V	+	1	0	CLCN6	11806402	1.000000	0.71417	0.979000	0.43373	0.847000	0.48162	9.459000	0.97638	2.828000	0.97474	0.655000	0.94253	GTA		0.552	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	0	NM_001286		1:11883815
FLG2	388698	broad.mit.edu	37	1	152326576	152326576	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:152326576C>A	ENST00000388718.5	-	3	3758	c.3686G>T	c.(3685-3687)gGa>gTa	p.G1229V	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1229	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AACTGTGGATCCTGACTCTAC	0.483																																						ENST00000388718.5		NA																	0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(3685-3687)gGa>gTa		filaggrin family member 2							177.0	170.0	172.0					1																	152326576		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152326576C>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.3686G>T	1.37:g.152326576C>A	ENSP00000373370:p.Gly1229Val	False	False		Somatic	0				FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.G1229V	NM_001014342.2	NP_001014364.1	WXS	Illumina HiSeq	Phase_I	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3758	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1229			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.3686G>T	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	8.781	0.928345	0.18131	.	.	ENSG00000143520	ENST00000388718	T	0.13538	2.58	3.52	-0.287	0.12858	.	.	.	.	.	T	0.03651	0.0104	M	0.72118	2.19	0.09310	N	1	P	0.38827	0.649	B	0.30855	0.121	T	0.34079	-0.9843	9	0.39692	T	0.17	1.501	2.0759	0.03624	0.182:0.4018:0.2961:0.1201	.	1229	Q5D862	FILA2_HUMAN	V	1229	ENSP00000373370:G1229V	ENSP00000373370:G1229V	G	-	2	0	FLG2	150593200	0.000000	0.05858	0.000000	0.03702	0.158000	0.22134	-1.119000	0.03276	-0.341000	0.08376	0.306000	0.20318	GGA		0.483	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	0	NM_001014342		1:152326576
ZAN	7455	broad.mit.edu	37	7	100361458	100361458	+	RNA	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:100361458C>T	ENST00000348028.3	+	0	4181				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GTGAATTCCCCGTCTTGTGAT	0.562																																						ENST00000542585.1		NA																	0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							139.0	135.0	136.0					7																	100361458		2005	4182	6187			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100361458C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100361458C>T		True	False		Somatic	0				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA		NM_003386.1	NP_003377.1	WXS	Illumina HiSeq	Phase_I	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	4164	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		NA					A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	C	16.01	3.001874	0.54254	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.18960	2.22;2.2;2.18	4.33	3.44	0.39384	von Willebrand factor, type D domain (1);	0.194678	0.25654	N	0.029183	T	0.39064	0.1064	M	0.89214	3.015	0.32728	N	0.509395	D;D	0.69078	0.997;0.995	P;P	0.52386	0.697;0.5	T	0.59279	-0.7484	10	0.62326	D	0.03	.	8.4966	0.33132	0.0:0.887:0.0:0.113	.	1339;1339	F5H0T8;Q9Y493	.;ZAN_HUMAN	L	1339	ENSP00000445943:P1339L;ENSP00000445091:P1339L;ENSP00000444427:P1339L	ENSP00000423579:P1339L	P	+	2	0	ZAN	100199394	0.018000	0.18449	0.001000	0.08648	0.020000	0.10135	2.304000	0.43655	1.113000	0.41760	0.555000	0.69702	CCG		0.562	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	0	NM_003386		7:100361458
SYT3	84258	broad.mit.edu	37	19	51135878	51135878	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:51135878G>A	ENST00000338916.4	-	2	972	c.339C>T	c.(337-339)ggC>ggT	p.G113G	SYT3_ENST00000544769.1_Silent_p.G113G|SYT3_ENST00000600079.1_Silent_p.G113G|SYT3_ENST00000593901.1_Silent_p.G113G	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	113					calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GGTGGTGCCCGCCTCCGCCTA	0.726																																						ENST00000338916.4		NA																	0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35						c.(337-339)ggC>ggT		synaptotagmin III							16.0	19.0	18.0					19																	51135878		2199	4292	6491	SO:0001819	synonymous_variant	84258					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:51135878G>A	AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"""Synaptotagmins"""	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.339C>T	19.37:g.51135878G>A		True	False		Somatic	0				SYT3_ENST00000544769.1_Silent_p.G113G|SYT3_ENST00000600079.1_Silent_p.G113G|SYT3_ENST00000593901.1_Silent_p.G113G	p.G113G	NM_032298.2	NP_115674.1	WXS	Illumina HiSeq	Phase_I	Q9BQG1	SYT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)	2	972	-		all_neural(266;0.131)	113					Q8N5Z1|Q8N640	Silent	SNP	ENST00000338916.4	37	c.339C>T	CCDS12798.1																																																																																				0.726	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	0	NM_032298		19:51135878
KCNH4	23415	broad.mit.edu	37	17	40321553	40321553	+	Missense_Mutation	SNP	C	C	T	rs201523967		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:40321553C>T	ENST00000264661.3	-	9	1864	c.1532G>A	c.(1531-1533)cGc>cAc	p.R511H	KCNH4_ENST00000607371.1_Missense_Mutation_p.R511H	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	511					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTCGAGCATGCGCTGCTTGAG	0.637													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20406	0.0		0.0	False		,,,				2504	0.0				NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3		NA																	0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(1531-1533)cGc>cAc		potassium voltage-gated channel, subfamily H (eag-related), member 4		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	79.0	72.0	74.0		1532	4.2	1.0	17		74	1,8599	1.2+/-3.3	0,1,4299	yes	missense	KCNH4	NM_012285.2	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	511/1018	40321553	2,13004	2203	4300	6503	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40321553C>T	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1532G>A	17.37:g.40321553C>T	ENSP00000264661:p.Arg511His	False	False		Somatic	0				KCNH4_ENST00000607371.1_Missense_Mutation_p.R511H	p.R511H	NM_012285.2	NP_036417.1	WXS	Illumina HiSeq	Phase_I	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	9	1864	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	511						Missense_Mutation	SNP	ENST00000264661.3	37	c.1532G>A	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	C	32	5.148528	0.94603	2.27E-4	1.16E-4	ENSG00000089558	ENST00000264661	D	0.97430	-4.38	4.18	4.18	0.49190	Cyclic nucleotide-binding-like (1);	0.000000	0.38720	N	0.001587	D	0.98855	0.9613	H	0.94264	3.515	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.99683	1.0999	10	0.87932	D	0	.	16.6694	0.85261	0.0:1.0:0.0:0.0	.	511	Q9UQ05	KCNH4_HUMAN	H	511	ENSP00000264661:R511H	ENSP00000264661:R511H	R	-	2	0	KCNH4	37575079	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.616000	0.83018	2.148000	0.66965	0.462000	0.41574	CGC		0.637	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	0	NM_012285		17:40321553
OR2T4	127074	broad.mit.edu	37	1	248525478	248525478	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:248525478C>T	ENST00000366475.1	+	1	596	c.596C>T	c.(595-597)cCc>cTc	p.P199L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGACCTTCCCCTTCCGTGGA	0.498																																						ENST00000366475.1		NA																	0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56						c.(595-597)cCc>cTc		olfactory receptor, family 2, subfamily T, member 4							224.0	202.0	210.0					1																	248525478		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525478C>T	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.596C>T	1.37:g.248525478C>T	ENSP00000355431:p.Pro199Leu	True	False		Somatic	0					p.P199L	NM_001004696.1	NP_001004696.1	WXS	Illumina HiSeq	Phase_I	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	596	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		199					Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.596C>T	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.234689	0.39498	.	.	ENSG00000196944	ENST00000366475	T	0.38560	1.13	3.61	3.61	0.41365	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000280	T	0.53738	0.1815	M	0.85945	2.785	0.09310	N	1	P	0.40731	0.728	P	0.49853	0.624	T	0.53394	-0.8445	10	0.87932	D	0	.	5.5708	0.17196	0.1974:0.6958:0.0:0.1068	.	199	Q8NH00	OR2T4_HUMAN	L	199	ENSP00000355431:P199L	ENSP00000355431:P199L	P	+	2	0	OR2T4	246592101	0.011000	0.17503	0.409000	0.26459	0.693000	0.40251	2.577000	0.46042	1.543000	0.49345	0.585000	0.79938	CCC		0.498	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	0	NM_001004696		1:248525478
LAMA5	3911	broad.mit.edu	37	20	60891034	60891034	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr20:60891034C>A	ENST00000252999.3	-	58	7903	c.7837G>T	c.(7837-7839)Gcg>Tcg	p.A2613S		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2613	Domain II and I.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GCCTGCGCCGCCTGGATGTGC	0.692																																						ENST00000252999.3		NA																	0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(7837-7839)Gcg>Tcg		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						25.0	24.0	24.0					20																	60891034		2186	4282	6468	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60891034C>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.7837G>T	20.37:g.60891034C>A	ENSP00000252999:p.Ala2613Ser	False	False		Somatic	0					p.A2613S	NM_005560.3	NP_005551.3	WXS	Illumina HiSeq	Phase_I	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		58	7903	-	Breast(26;1.57e-08)		2613			Domain II and I.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.7837G>T	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	c	4.443	0.081997	0.08533	.	.	ENSG00000130702	ENST00000252999	T	0.18338	2.22	4.24	3.29	0.37713	.	0.752565	0.11809	U	0.527370	T	0.07188	0.0182	N	0.05124	-0.11	0.09310	N	0.999996	B	0.06786	0.001	B	0.04013	0.001	T	0.40117	-0.9580	10	0.08179	T	0.78	.	8.0425	0.30529	0.0:0.8833:0.0:0.1167	.	2613	O15230	LAMA5_HUMAN	S	2613	ENSP00000252999:A2613S	ENSP00000252999:A2613S	A	-	1	0	LAMA5	60324429	0.000000	0.05858	0.009000	0.14445	0.039000	0.13416	0.166000	0.16583	0.768000	0.33290	0.486000	0.48141	GCG		0.692	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	0	NM_005560		20:60891034
SALL2	6297	broad.mit.edu	37	14	21993764	21993764	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr14:21993764G>A	ENST00000327430.3	-	2	392	c.98C>T	c.(97-99)cCc>cTc	p.P33L	SALL2_ENST00000538754.1_Missense_Mutation_p.P31L|AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000450879.2_Missense_Mutation_p.P31L|SALL2_ENST00000317492.5_Missense_Mutation_p.P33L	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	33					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		ACAGACTTGGGGGTGATCCTC	0.532																																						ENST00000327430.3		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43						c.(97-99)cCc>cTc		spalt-like transcription factor 2							83.0	70.0	75.0					14																	21993764		2203	4300	6503	SO:0001583	missense	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21993764G>A	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.98C>T	14.37:g.21993764G>A	ENSP00000333537:p.Pro33Leu	True	False		Somatic	0				SALL2_ENST00000317492.5_Missense_Mutation_p.P33L|SALL2_ENST00000450879.2_Missense_Mutation_p.P31L|SALL2_ENST00000538754.1_Missense_Mutation_p.P31L	p.P33L	NM_005407.1	NP_005398.1	WXS	Illumina HiSeq	Phase_I	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	392	-	all_cancers(95;0.000662)		33					B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Missense_Mutation	SNP	ENST00000327430.3	37	c.98C>T	CCDS32045.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.54|17.54	3.416205|3.416205	0.62511|0.62511	.|.	.|.	ENSG00000165821|ENSG00000165821	ENST00000327430;ENST00000317492;ENST00000538754;ENST00000450879;ENST00000541876;ENST00000537235|ENST00000546363	T;T;T;T;T|T	0.37058|0.04049	3.68;1.24;1.22;3.65;1.34|3.72	4.01|4.01	2.17|2.17	0.27698|0.27698	.|.	0.000000|0.000000	0.38605|0.38605	N|N	0.001629|0.001629	T|T	0.07143|0.07143	0.0181|0.0181	L|L	0.50333|0.50333	1.59|1.59	0.35240|0.35240	D|D	0.777695|0.777695	B;B;B;D;B;D|.	0.89917|.	0.002;0.002;0.0;1.0;0.004;0.982|.	B;B;B;D;B;P|.	0.87578|.	0.001;0.001;0.001;0.998;0.004;0.731|.	T|T	0.33828|0.33828	-0.9853|-0.9853	10|8	0.62326|0.33940	D|T	0.03|0.23	-25.3036|-25.3036	5.8958|5.8958	0.18939|0.18939	0.3358:0.0:0.6641:0.0|0.3358:0.0:0.6641:0.0	.|.	31;31;31;33;31;33|.	B4DK65;E7EW59;B4DFD9;F5GY43;Q8N656;Q9Y467|.	.;.;.;.;.;SALL2_HUMAN|.	L|S	33;33;31;31;33;31|27	ENSP00000333537:P33L;ENSP00000320536:P33L;ENSP00000445916:P31L;ENSP00000396773:P31L;ENSP00000438493:P31L|ENSP00000440054:P27S	ENSP00000320536:P33L|ENSP00000440054:P27S	P|P	-|-	2|1	0|0	SALL2|SALL2	21063604|21063604	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.928000|0.928000	0.56348|0.56348	2.258000|2.258000	0.43249|0.43249	0.375000|0.375000	0.24679|0.24679	-0.259000|-0.259000	0.10710|0.10710	CCC|CCC		0.532	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	0	NM_005407		14:21993764
LRRC4B	94030	broad.mit.edu	37	19	51021944	51021944	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:51021944C>T	ENST00000599957.1	-	3	1223	c.1026G>A	c.(1024-1026)gcG>gcA	p.A342A	LRRC4B_ENST00000389201.3_Silent_p.A342A			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	342	LRRCT.				positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GGCCGGCGGGCGCATGACAGC	0.652																																						ENST00000599957.1		NA																	0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30						c.(1024-1026)gcG>gcA		leucine rich repeat containing 4B							36.0	43.0	41.0					19																	51021944		2137	4222	6359	SO:0001819	synonymous_variant	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51021944C>T	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1026G>A	19.37:g.51021944C>T		True	False		Somatic	0				LRRC4B_ENST00000389201.3_Silent_p.A342A	p.A342A			WXS	Illumina HiSeq	Phase_I	Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	1223	-		all_neural(266;0.131)	342			LRRCT.		Q3ZCQ4|Q58F20	Silent	SNP	ENST00000599957.1	37	c.1026G>A	CCDS42595.1																																																																																				0.652	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	0	NM_001080457		19:51021944
RET	5979	broad.mit.edu	37	10	43622039	43622039	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr10:43622039C>T	ENST00000355710.3	+	19	3288	c.3056C>T	c.(3055-3057)gCg>gTg	p.A1019V	RET_ENST00000340058.5_Missense_Mutation_p.A1019V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1019					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TTGGACCTTGCGGCGTCCACT	0.557		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"""T, Mis, N, F"""	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(3055-3057)gCg>gTg		ret proto-oncogene	Sunitinib(DB01268)						252.0	239.0	243.0					10																	43622039		2203	4300	6503	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43622039C>T	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.3056C>T	10.37:g.43622039C>T	ENSP00000347942:p.Ala1019Val	False	False		Somatic	0				RET_ENST00000340058.5_Missense_Mutation_p.A1019V	p.A1019V	NM_020975.4	NP_066124.1	WXS	Illumina HiSeq	Phase_I	P07949	RET_HUMAN			19	3288	+		Ovarian(717;0.0423)	1019					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.3056C>T	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010130	0.75046	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	T;T	0.80304	-1.24;-1.36	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.83922	0.5359	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.998;0.999	D	0.85682	0.1301	10	0.52906	T	0.07	.	18.5126	0.90923	0.0:1.0:0.0:0.0	.	765;1019;1019	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	V	1019	ENSP00000347942:A1019V;ENSP00000344798:A1019V	ENSP00000344798:A1019V	A	+	2	0	RET	42942045	1.000000	0.71417	0.735000	0.30896	0.550000	0.35303	7.786000	0.85741	2.374000	0.81015	0.655000	0.94253	GCG		0.557	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	0	NM_020975		10:43622039
SYT3	84258	broad.mit.edu	37	19	51135733	51135733	+	Missense_Mutation	SNP	A	A	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:51135733A>C	ENST00000338916.4	-	2	1117	c.484T>G	c.(484-486)Ttg>Gtg	p.L162V	SYT3_ENST00000544769.1_Missense_Mutation_p.L162V|SYT3_ENST00000600079.1_Missense_Mutation_p.L162V|SYT3_ENST00000593901.1_Missense_Mutation_p.L162V	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	162					calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TCCATGTCCAAGTAGGAGGGC	0.657																																						ENST00000338916.4		NA																	0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35						c.(484-486)Ttg>Gtg		synaptotagmin III							25.0	25.0	25.0					19																	51135733		2202	4299	6501	SO:0001583	missense	84258					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:51135733A>C	AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"""Synaptotagmins"""	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.484T>G	19.37:g.51135733A>C	ENSP00000340914:p.Leu162Val	False	False		Somatic	0				SYT3_ENST00000544769.1_Missense_Mutation_p.L162V|SYT3_ENST00000600079.1_Missense_Mutation_p.L162V|SYT3_ENST00000593901.1_Missense_Mutation_p.L162V	p.L162V	NM_032298.2	NP_115674.1	WXS	Illumina HiSeq	Phase_I	Q9BQG1	SYT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)	2	1117	-		all_neural(266;0.131)	162					Q8N5Z1|Q8N640	Missense_Mutation	SNP	ENST00000338916.4	37	c.484T>G	CCDS12798.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.884129	0.51908	.	.	ENSG00000213023	ENST00000338916;ENST00000544769	T;T	0.60299	0.2;0.2	4.59	-1.9	0.07665	.	0.162709	0.28268	U	0.015977	T	0.57021	0.2025	L	0.29908	0.895	0.48632	D	0.999683	D	0.63880	0.993	D	0.67548	0.952	T	0.52155	-0.8613	10	0.32370	T	0.25	.	11.5224	0.50560	0.4141:0.0:0.5859:0.0	.	162	Q9BQG1	SYT3_HUMAN	V	162	ENSP00000340914:L162V;ENSP00000438883:L162V	ENSP00000340914:L162V	L	-	1	2	SYT3	55827545	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	1.388000	0.34442	-0.290000	0.09025	0.460000	0.39030	TTG		0.657	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	0	NM_032298		19:51135733
SLC4A11	83959	broad.mit.edu	37	20	3214843	3214843	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr20:3214843G>A	ENST00000380056.3	-	4	504	c.457C>T	c.(457-459)Cgg>Tgg	p.R153W	SLC4A11_ENST00000380059.3_Missense_Mutation_p.R180W|SLC4A11_ENST00000539553.2_Missense_Mutation_p.R137W	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	153					bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						AGCATGGTCCGCAGCACGTTA	0.627																																					NSCLC(190;922 2139 10266 10292 38692)	ENST00000380059.3		NA																	0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						c.(538-540)Cgg>Tgg		solute carrier family 4, sodium borate transporter, member 11							129.0	119.0	122.0					20																	3214843		2203	4300	6503	SO:0001583	missense	83959				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	g.chr20:3214843G>A	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.457C>T	20.37:g.3214843G>A	ENSP00000369396:p.Arg153Trp	False	False		Somatic	0				SLC4A11_ENST00000539553.2_Missense_Mutation_p.R137W|SLC4A11_ENST00000380056.3_Missense_Mutation_p.R153W	p.R180W	NM_001174090.1	NP_001167561.1	WXS	Illumina HiSeq	Phase_I	Q8NBS3	S4A11_HUMAN			5	639	-			153					B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Missense_Mutation	SNP	ENST00000380056.3	37	c.538C>T	CCDS13052.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.315762	0.40996	.	.	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553;ENST00000437836	T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31	5.06	3.08	0.35506	Phosphotransferase/anion transporter (1);	0.291763	0.33040	N	0.005342	D	0.84415	0.5467	L	0.60455	1.87	0.32057	N	0.59625	D;D;D	0.76494	0.999;0.999;0.999	P;P;P	0.62014	0.897;0.792;0.792	D	0.85438	0.1153	10	0.66056	D	0.02	.	11.0562	0.47920	0.1383:0.0:0.8617:0.0	.	137;180;153	G3V1M3;B4DKC8;Q8NBS3	.;.;S4A11_HUMAN	W	180;153;137;137	ENSP00000369399:R180W;ENSP00000369396:R153W;ENSP00000441370:R137W;ENSP00000404271:R137W	ENSP00000369396:R153W	R	-	1	2	SLC4A11	3162843	0.964000	0.33143	0.996000	0.52242	0.142000	0.21351	3.096000	0.50243	2.338000	0.79540	0.655000	0.94253	CGG		0.627	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1	0			20:3214843
LIN7A	8825	broad.mit.edu	37	12	81205274	81205274	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:81205274C>T	ENST00000552864.1	-	5	874	c.672G>A	c.(670-672)caG>caA	p.Q224Q		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	224	Poly-Gln.				exocytosis (GO:0006887)|inner ear development (GO:0048839)|neurotransmitter secretion (GO:0007269)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|synaptic vesicle transport (GO:0048489)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	L27 domain binding (GO:0097016)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						GTGTTtgttgctgctgctgct	0.408																																						ENST00000552864.1		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						c.(670-672)caG>caA		lin-7 homolog A (C. elegans)							83.0	73.0	76.0					12																	81205274		2203	4299	6502	SO:0001819	synonymous_variant	8825				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding	g.chr12:81205274C>T	AF028826	CCDS9021.1	12q21.31	2014-09-04			ENSG00000111052	ENSG00000111052			17787	protein-coding gene	gene with protein product	"""mammalian LIN-7 1"""	603380				10341223, 17237226	Standard	NM_004664		Approved	MALS-1, TIP-33, LIN-7A, VELI1	uc001szj.1	O14910	OTTHUMG00000170168	ENST00000552864.1:c.672G>A	12.37:g.81205274C>T		True	False		Somatic	0					p.Q224Q	NM_004664.2	NP_004655.1	WXS	Illumina HiSeq	Phase_I	O14910	LIN7A_HUMAN			5	874	-			224			Poly-Gln.		A4FTY3|Q147W1|Q6LES3|Q7LDS4	Silent	SNP	ENST00000552864.1	37	c.672G>A	CCDS9021.1																																																																																				0.408	LIN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407760.1	0			12:81205274
ZNF180	7733	broad.mit.edu	37	19	44981580	44981580	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:44981580C>A	ENST00000221327.4	-	5	1399	c.1118G>T	c.(1117-1119)aGa>aTa	p.R373I	AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000592529.1_Missense_Mutation_p.R346I|ZNF180_ENST00000391956.4_Missense_Mutation_p.R348I|ZNF180_ENST00000585514.1_5'Flank	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	373					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R373I(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TGTGTGAGTTCTCTGATGTGC	0.433																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)	ENST00000221327.4		NA																	1	Substitution - Missense(1)	p.R373I(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33						c.(1117-1119)aGa>aTa		zinc finger protein 180							79.0	79.0	79.0					19																	44981580		2203	4299	6502	SO:0001583	missense	7733				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44981580C>A	AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"""Zinc fingers, C2H2-type"", ""-"""	12970	protein-coding gene	gene with protein product		606740	"""zinc finger protein 180 (HHZ168)"""				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.1118G>T	19.37:g.44981580C>A	ENSP00000221327:p.Arg373Ile	False	False		Somatic	0				ZNF180_ENST00000592529.1_Missense_Mutation_p.R346I|ZNF180_ENST00000391956.4_Missense_Mutation_p.R348I	p.R373I	NM_013256.3	NP_037388.2	WXS	Illumina HiSeq	Phase_I	Q9UJW8	ZN180_HUMAN			5	1399	-		Prostate(69;0.0435)	373					B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	37	c.1118G>T	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527425	0.64860	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.24908	1.83;1.83	5.28	4.18	0.49190	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45867	D	0.000322	T	0.44993	0.1320	M	0.73962	2.25	0.80722	D	1	D;D;D	0.67145	0.996;0.991;0.991	P;P;P	0.57960	0.82;0.83;0.83	T	0.49790	-0.8902	10	0.87932	D	0	-25.9269	13.6071	0.62054	0.156:0.844:0.0:0.0	.	348;372;373	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	I	373;348	ENSP00000221327:R373I;ENSP00000375818:R348I	ENSP00000221327:R373I	R	-	2	0	ZNF180	49673420	0.000000	0.05858	1.000000	0.80357	0.941000	0.58515	-1.112000	0.03299	2.444000	0.82710	0.655000	0.94253	AGA		0.433	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	0	NM_013256		19:44981580
CHN2	1124	broad.mit.edu	37	7	29552295	29552295	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:29552295C>T	ENST00000222792.6	+	13	1881	c.1351C>T	c.(1351-1353)Cgg>Tgg	p.R451W	CHN2_ENST00000546235.1_Missense_Mutation_p.R436W|CHN2_ENST00000409041.4_Missense_Mutation_p.R315W|CHN2_ENST00000421775.2_Missense_Mutation_p.R257W|CHN2_ENST00000539389.1_Missense_Mutation_p.R307W|CHN2_ENST00000439711.2_Missense_Mutation_p.R269W|CHN2_ENST00000495789.2_Missense_Mutation_p.R464W|CHN2_ENST00000424025.2_Missense_Mutation_p.R270W|CHN2_ENST00000539406.1_Missense_Mutation_p.R526W|CHN2_ENST00000410098.1_3'UTR|AC007255.8_ENST00000450540.2_RNA|AC007255.8_ENST00000447171.1_RNA|CHN2_ENST00000435288.2_Missense_Mutation_p.R175W	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	451	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						GCATGATATGCGGTACCAAAA	0.463																																					Ovarian(1;44 48 13232 18918 31480)	ENST00000222792.6		NA																	0				breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						c.(1351-1353)Cgg>Tgg		chimerin 2							86.0	86.0	86.0					7																	29552295		2203	4300	6503	SO:0001583	missense	1124				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr7:29552295C>T	L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1944	protein-coding gene	gene with protein product	"""beta chimerin"", ""chimaerin 2"""	602857	"""chimerin (chimaerin) 2"""			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.1351C>T	7.37:g.29552295C>T	ENSP00000222792:p.Arg451Trp	False	False		Somatic	0				CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000546235.1_Missense_Mutation_p.R436W|CHN2_ENST00000439711.2_Missense_Mutation_p.R269W|CHN2_ENST00000539389.1_Missense_Mutation_p.R307W|CHN2_ENST00000421775.2_Missense_Mutation_p.R257W|CHN2_ENST00000435288.2_Missense_Mutation_p.R175W|CHN2_ENST00000495789.2_Missense_Mutation_p.R464W|CHN2_ENST00000424025.2_Missense_Mutation_p.R270W|CHN2_ENST00000539406.1_Missense_Mutation_p.R526W|CHN2_ENST00000409041.4_Missense_Mutation_p.R315W	p.R451W	NM_004067.2	NP_004058.1	WXS	Illumina HiSeq	Phase_I	P52757	CHIO_HUMAN			13	1881	+			451			Rho-GAP.		A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Missense_Mutation	SNP	ENST00000222792.6	37	c.1351C>T	CCDS5420.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.370732	0.61624	.	.	ENSG00000106069	ENST00000539406;ENST00000222792;ENST00000435288;ENST00000495789;ENST00000539389;ENST00000546235;ENST00000409041;ENST00000424025;ENST00000439711;ENST00000421775	T;T;T;T;T;T;T;T;T;T	0.23348	2.71;2.71;1.91;2.71;2.71;2.71;2.71;2.71;2.71;2.71	5.51	4.57	0.56435	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.58807	0.2148	M	0.92833	3.35	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0	P;D;D;D;P;D;D;P;D;P;P;D;P;D	0.91635	0.799;0.936;0.995;0.999;0.857;0.943;0.961;0.872;0.917;0.9;0.711;0.991;0.901;0.991	T	0.67428	-0.5673	10	0.72032	D	0.01	.	13.0612	0.59008	0.2774:0.7225:0.0:0.0	.	244;436;464;526;270;224;243;211;269;257;307;451;315;451	B7Z215;B7Z1W9;B7Z1V0;F5H003;B3VCF1;B3VCF2;B3VCF5;B3VCF4;B3VCF7;B3VCF3;B3VCG1;A4D1A2;E9PGE0;P52757	.;.;.;.;.;.;.;.;.;.;.;.;.;CHIO_HUMAN	W	526;451;175;464;307;436;315;270;269;257	ENSP00000444063:R526W;ENSP00000222792:R451W;ENSP00000400282:R175W;ENSP00000438587:R464W;ENSP00000440526:R307W;ENSP00000442812:R436W;ENSP00000386849:R315W;ENSP00000406337:R270W;ENSP00000387425:R269W;ENSP00000394284:R257W	ENSP00000222792:R451W	R	+	1	2	CHN2	29518820	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.281000	0.43452	2.755000	0.94549	0.650000	0.86243	CGG		0.463	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2	0	NM_004067		7:29552295
ATP11B	23200	broad.mit.edu	37	3	182597407	182597407	+	Nonsense_Mutation	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:182597407C>A	ENST00000323116.5	+	20	2636	c.2376C>A	c.(2374-2376)tgC>tgA	p.C792*		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	792					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			CTGTATTATGCTGTCGTATGG	0.363																																						ENST00000323116.5		NA																	0				breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41						c.(2374-2376)tgC>tgA		ATPase, class VI, type 11B							110.0	109.0	109.0					3																	182597407		2203	4300	6503	SO:0001587	stop_gained	23200				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr3:182597407C>A	AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.2376C>A	3.37:g.182597407C>A	ENSP00000321195:p.Cys792*	False	False		Somatic	0					p.C792*	NM_014616.2	NP_055431.1	WXS	Illumina HiSeq	Phase_I	Q9Y2G3	AT11B_HUMAN	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		20	2636	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		792					Q96FN1|Q9UKK7	Nonsense_Mutation	SNP	ENST00000323116.5	37	c.2376C>A	CCDS33896.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.4|29.4	5.000121|5.000121	0.93227|0.93227	.|.	.|.	ENSG00000058063|ENSG00000058063	ENST00000498086|ENST00000323116;ENST00000482070	.|.	.|.	.|.	4.78|4.78	3.9|3.9	0.45041|0.45041	.|.	.|0.098289	.|0.85682	.|D	.|0.000000	T|.	0.31327|.	0.0793|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.13899|.	-1.0492|.	4|.	.|0.02654	.|T	.|1	.|.	10.2941|10.2941	0.43613|0.43613	0.0:0.7862:0.0:0.2138|0.0:0.7862:0.0:0.2138	.|.	.|.	.|.	.|.	D|X	593|792;27	.|.	.|ENSP00000321195:C792X	A|C	+|+	2|3	0|2	ATP11B|ATP11B	184080101|184080101	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	1.236000|1.236000	0.32683|0.32683	1.199000|1.199000	0.43173|0.43173	0.585000|0.585000	0.79938|0.79938	GCT|TGC		0.363	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	0	NM_014616		3:182597407
ANO5	203859	broad.mit.edu	37	11	22297720	22297720	+	Missense_Mutation	SNP	A	A	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:22297720A>C	ENST00000324559.8	+	21	2812	c.2495A>C	c.(2494-2496)aAg>aCg	p.K832T	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	832					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTTGCTGCCAAGATGACCTTC	0.363																																						ENST00000324559.8		NA																	0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2494-2496)aAg>aCg		anoctamin 5							111.0	93.0	99.0					11																	22297720		2202	4299	6501	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22297720A>C	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2495A>C	11.37:g.22297720A>C	ENSP00000315371:p.Lys832Thr	False	False		Somatic	0				ANO5_ENST00000532043.1_3'UTR	p.K832T	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	WXS	Illumina HiSeq	Phase_I	Q75V66	ANO5_HUMAN			21	2812	+			832						Missense_Mutation	SNP	ENST00000324559.8	37	c.2495A>C	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	A	19.86	3.905181	0.72868	.	.	ENSG00000171714	ENST00000324559	T	0.63580	-0.05	4.96	1.35	0.21983	.	0.222920	0.52532	D	0.000063	T	0.70193	0.3196	M	0.62088	1.915	0.51767	D	0.999933	P	0.50617	0.937	P	0.61940	0.896	T	0.68352	-0.5431	10	0.87932	D	0	.	8.7096	0.34376	0.7783:0.0:0.2217:0.0	.	832	Q75V66	ANO5_HUMAN	T	832	ENSP00000315371:K832T	ENSP00000315371:K832T	K	+	2	0	ANO5	22254296	1.000000	0.71417	0.984000	0.44739	0.858000	0.48976	6.261000	0.72509	0.042000	0.15717	-0.451000	0.05528	AAG		0.363	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	0	NM_213599		11:22297720
TM6SF2	53345	broad.mit.edu	37	19	19381000	19381000	+	Missense_Mutation	SNP	G	G	A	rs200162798		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:19381000G>A	ENST00000389363.4	-	4	455	c.383C>T	c.(382-384)gCc>gTc	p.A128V	TM6SF2_ENST00000586107.1_5'UTR|AC138430.4_ENST00000586064.2_RNA	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	128						integral component of membrane (GO:0016021)				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			GATGGCGCCGGCCATGGCCAG	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		16836	0.0		0.001	False		,,,				2504	0.0					ENST00000389363.4		NA																	0				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14						c.(382-384)gCc>gTc		transmembrane 6 superfamily member 2							41.0	44.0	43.0					19																	19381000		2069	4207	6276	SO:0001583	missense	53345					integral to membrane		g.chr19:19381000G>A	AF255923	CCDS42528.1	19p13.3-p12	2008-02-05							11861	protein-coding gene	gene with protein product		606563				11124529	Standard	NM_001001524		Approved	Lpr4	uc002nmd.1	Q9BZW4		ENST00000389363.4:c.383C>T	19.37:g.19381000G>A	ENSP00000374014:p.Ala128Val	False	False		Somatic	0				TM6SF2_ENST00000586107.1_5'UTR|AC138430.4_ENST00000586064.2_RNA	p.A128V	NM_001001524.2	NP_001001524.2	WXS	Illumina HiSeq	Phase_I	Q9BZW4	TM6S2_HUMAN	Epithelial(12;0.0151)		4	455	-			128					Q0IJ64	Missense_Mutation	SNP	ENST00000389363.4	37	c.383C>T	CCDS42528.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	12.00|12.00	1.807588|1.807588	0.31961|0.31961	.|.	.|.	ENSG00000213996|ENSG00000213996	ENST00000389363;ENST00000269990|ENST00000431465	T|.	0.16897|.	2.31|.	4.74|4.74	4.74|4.74	0.60224|0.60224	.|.	1.234380|.	0.06107|.	U|.	0.666399|.	T|T	0.44540|0.44540	0.1298|0.1298	N|N	0.20530|0.20530	0.585|0.585	0.36402|0.36402	D|D	0.863169|0.863169	B|.	0.22800|.	0.075|.	B|.	0.17098|.	0.017|.	T|T	0.56854|0.56854	-0.7910|-0.7910	10|6	0.02654|0.87932	T|D	1|0	-2.6873|-2.6873	8.9715|8.9715	0.35910|0.35910	0.1014:0.0:0.8986:0.0|0.1014:0.0:0.8986:0.0	.|.	128|.	Q9BZW4|.	TM6S2_HUMAN|.	V|S	128|151	ENSP00000374014:A128V|.	ENSP00000269990:A128V|ENSP00000391180:P151S	A|P	-|-	2|1	0|0	TM6SF2|TM6SF2	19242000|19242000	0.998000|0.998000	0.40836|0.40836	0.912000|0.912000	0.35992|0.35992	0.768000|0.768000	0.43524|0.43524	4.136000|4.136000	0.58004|0.58004	2.196000|2.196000	0.70406|0.70406	0.505000|0.505000	0.49811|0.49811	GCC|CCG		0.642	TM6SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460122.2	0	NM_203510		19:19381000
C8A	731	broad.mit.edu	37	1	57333282	57333282	+	Splice_Site	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:57333282G>A	ENST00000361249.3	+	2	174	c.78G>A	c.(76-78)caG>caA	p.Q26Q		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	26					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CTTTCTTTAGGAGAGTAAGAC	0.458																																						ENST00000361249.3		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(76-78)caG>caA		complement component 8, alpha polypeptide							57.0	53.0	54.0					1																	57333282		2203	4300	6503	SO:0001630	splice_region_variant	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57333282G>A	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.78-1G>A	1.37:g.57333282G>A		False	False		Somatic	0					p.Q26Q	NM_000562.2	NP_000553.1	WXS	Illumina HiSeq	Phase_I	P07357	CO8A_HUMAN			2	174	+			26					A2RUI4|A2RUI5|Q13668|Q9H130	Splice_Site	SNP	ENST00000361249.3	37	c.78G>A	CCDS606.1																																																																																				0.458	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	0	NM_000562	Silent	1:57333282
KLHL34	257240	broad.mit.edu	37	X	21675080	21675080	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:21675080C>T	ENST00000379499.2	-	1	1368	c.827G>A	c.(826-828)cGg>cAg	p.R276Q		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	276						extracellular space (GO:0005615)				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CTGGGGGCTCCGGATGCTGGT	0.706																																						ENST00000379499.2		NA																	0				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						c.(826-828)cGg>cAg		kelch-like family member 34							14.0	16.0	16.0					X																	21675080		2197	4278	6475	SO:0001583	missense	257240							g.chrX:21675080C>T	AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"""Kelch-like"", ""BTB/POZ domain containing"""	26634	protein-coding gene	gene with protein product			"""kelch-like 34 (Drosophila)"""				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.827G>A	X.37:g.21675080C>T	ENSP00000368813:p.Arg276Gln	False	False		Somatic	0					p.R276Q	NM_153270.1	NP_695002.1	WXS	Illumina HiSeq	Phase_I	Q8N239	KLH34_HUMAN			1	1368	-			276						Missense_Mutation	SNP	ENST00000379499.2	37	c.827G>A	CCDS14199.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.453847	0.63290	.	.	ENSG00000185915	ENST00000379499	T	0.78126	-1.15	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.82779	0.5111	M	0.71206	2.165	0.58432	D	0.999999	D	0.63046	0.992	P	0.51266	0.664	D	0.86073	0.1539	10	0.87932	D	0	.	17.0104	0.86405	0.0:1.0:0.0:0.0	.	276	Q8N239	KLH34_HUMAN	Q	276	ENSP00000368813:R276Q	ENSP00000368813:R276Q	R	-	2	0	KLHL34	21585001	1.000000	0.71417	0.977000	0.42913	0.136000	0.21042	7.323000	0.79105	2.194000	0.70268	0.422000	0.28245	CGG		0.706	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	0	NM_153270		X:21675080
ADSSL1	122622	broad.mit.edu	37	14	105207231	105207231	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr14:105207231A>G	ENST00000330877.2	+	7	725	c.640A>G	c.(640-642)Att>Gtt	p.I214V	ADSSL1_ENST00000332972.5_Missense_Mutation_p.I257V	NM_152328.3	NP_689541.1			adenylosuccinate synthase like 1											central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)		GGAAATAGACATTGAAGGCCA	0.582																																						ENST00000332972.5		NA																	0				central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11						c.(769-771)Att>Gtt		adenylosuccinate synthase like 1	L-Aspartic Acid(DB00128)						188.0	189.0	188.0					14																	105207231		2203	4300	6503	SO:0001583	missense	122622				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	g.chr14:105207231A>G	AK095921	CCDS9990.1, CCDS9991.1	14q32.33	2010-08-05			ENSG00000185100	ENSG00000185100			20093	protein-coding gene	gene with protein product		612498					Standard	NM_199165		Approved	FLJ38602	uc001ype.3	Q8N142		ENST00000330877.2:c.640A>G	14.37:g.105207231A>G	ENSP00000331260:p.Ile214Val	False	False		Somatic	0				ADSSL1_ENST00000330877.2_Missense_Mutation_p.I214V	p.I257V	NM_199165.1	NP_954634.1	WXS	Illumina HiSeq	Phase_I	Q8N142	PURA1_HUMAN	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	7	928	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	214						Missense_Mutation	SNP	ENST00000330877.2	37	c.769A>G	CCDS9990.1	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.055552	0.00390	.	.	ENSG00000185100	ENST00000330877;ENST00000332972	T;T	0.38240	1.15;1.15	4.77	-2.33	0.06724	.	0.405998	0.24891	N	0.034766	T	0.10252	0.0251	N	0.02169	-0.655	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.33085	-0.9882	10	0.02654	T	1	-2.6136	10.9376	0.47253	0.8333:0.0:0.1667:0.0	.	257;214	Q8N142-2;Q8N142	.;PURA1_HUMAN	V	214;257	ENSP00000331260:I214V;ENSP00000333019:I257V	ENSP00000331260:I214V	I	+	1	0	ADSSL1	104278276	0.001000	0.12720	0.000000	0.03702	0.166000	0.22503	0.552000	0.23376	-0.770000	0.04614	-0.290000	0.09829	ATT		0.582	ADSSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410529.1	0			14:105207231
NLRP8	126205	broad.mit.edu	37	19	56467042	56467042	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:56467042C>T	ENST00000291971.3	+	3	1689	c.1618C>T	c.(1618-1620)Cgc>Tgc	p.R540C	NLRP8_ENST00000590542.1_Missense_Mutation_p.R540C	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	540					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GAATATCCAGCGCCTGATAGC	0.463																																						ENST00000291971.3		NA																	0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(1618-1620)Cgc>Tgc		NLR family, pyrin domain containing 8							107.0	104.0	105.0					19																	56467042		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56467042C>T	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1618C>T	19.37:g.56467042C>T	ENSP00000291971:p.Arg540Cys	False	False		Somatic	0				NLRP8_ENST00000590542.1_Missense_Mutation_p.R540C	p.R540C	NM_176811.2	NP_789781.2	WXS	Illumina HiSeq	Phase_I	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	1689	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	540					Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.1618C>T	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	C	3.528	-0.096249	0.07010	.	.	ENSG00000179709	ENST00000291971	D	0.88354	-2.37	2.04	-4.08	0.03963	.	.	.	.	.	T	0.77061	0.4075	L	0.28400	0.85	0.09310	N	1	B;B	0.28512	0.214;0.004	B;B	0.19391	0.025;0.002	T	0.61540	-0.7042	9	0.54805	T	0.06	.	3.8082	0.08786	0.1866:0.2595:0.0:0.5539	.	540;540	Q86W28-2;Q86W28	.;NALP8_HUMAN	C	540	ENSP00000291971:R540C	ENSP00000291971:R540C	R	+	1	0	NLRP8	61158854	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-2.174000	0.01264	-1.334000	0.02244	-0.290000	0.09829	CGC		0.463	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	0	NM_176811		19:56467042
BECN1	8678	broad.mit.edu	37	17	40970815	40970815	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:40970815C>T	ENST00000361523.4	-	5	473	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	BECN1_ENST00000438274.3_Intron|BECN1_ENST00000590099.1_Missense_Mutation_p.R114Q	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	114					autophagic vacuole assembly (GO:0000045)|beta-amyloid metabolic process (GO:0050435)|cellular defense response (GO:0006968)|cellular response to aluminum ion (GO:0071275)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokinesis (GO:0000910)|defense response to virus (GO:0051607)|lysosome organization (GO:0007040)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|positive regulation of macroautophagy (GO:0016239)|regulation of catalytic activity (GO:0050790)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to vitamin E (GO:0033197)|viral process (GO:0016032)	dendrite (GO:0030425)|membrane (GO:0016020)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CTTCAGTCTTCGGCTGAGGTT	0.607																																						ENST00000361523.4		NA																	0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13						c.(340-342)cGa>cAa		beclin 1, autophagy related							85.0	73.0	77.0					17																	40970815		2203	4300	6503	SO:0001583	missense	8678				anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding	g.chr17:40970815C>T	AF077301	CCDS11441.1	17q21	2014-02-12	2008-01-14		ENSG00000126581	ENSG00000126581			1034	protein-coding gene	gene with protein product	"""ATG6 autophagy related 6 homolog (S. cerevisiae)"""	604378	"""beclin 1 (coiled-coil, moesin-like BCL2 interacting protein)"""			9765397	Standard	NM_003766		Approved	ATG6, VPS30	uc002ibn.2	Q14457		ENST00000361523.4:c.341G>A	17.37:g.40970815C>T	ENSP00000355231:p.Arg114Gln	False	False		Somatic	0				BECN1_ENST00000438274.3_Intron|BECN1_ENST00000590099.1_Missense_Mutation_p.R114Q	p.R114Q	NM_003766.3	NP_003757.1	WXS	Illumina HiSeq	Phase_I	Q14457	BECN1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0745)	5	473	-		Breast(137;0.00104)	114					B2R6N7|O75595|Q9UNA8	Missense_Mutation	SNP	ENST00000361523.4	37	c.341G>A	CCDS11441.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365432	0.41902	.	.	ENSG00000126581	ENST00000361523;ENST00000543382	T	0.28895	1.59	5.3	4.34	0.51931	.	0.123692	0.53938	D	0.000053	T	0.24198	0.0586	L	0.41236	1.265	0.80722	D	1	B	0.22211	0.066	B	0.09377	0.004	T	0.04427	-1.0952	10	0.17832	T	0.49	.	14.0369	0.64651	0.0:0.9277:0.0:0.0723	.	114	Q14457	BECN1_HUMAN	Q	114;27	ENSP00000355231:R114Q	ENSP00000355231:R114Q	R	-	2	0	BECN1	38224341	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.577000	0.82486	1.471000	0.48121	-0.136000	0.14681	CGA		0.607	BECN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452405.1	0	NM_003766		17:40970815
TMEM9B	56674	broad.mit.edu	37	11	8969885	8969885	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:8969885C>T	ENST00000534025.1	-	5	1038	c.579G>A	c.(577-579)cgG>cgA	p.R193R	TMEM9B_ENST00000525069.1_Silent_p.R119R|TMEM9B_ENST00000309134.5_Silent_p.R119R	NM_020644.1	NP_065695.1	Q9NQ34	TMM9B_HUMAN	TMEM9 domain family, member B	193					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)	p.R193R(1)		breast(1)|lung(1)|prostate(1)	3				Epithelial(150;4.39e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0237)		GGACAACATGCCGGTCAAAGA	0.488																																						ENST00000534025.1		NA																	1	Substitution - coding silent(1)	p.R193R(1)	prostate(1)	breast(1)|lung(1)|prostate(1)	3						c.(577-579)cgG>cgA		TMEM9 domain family, member B							133.0	125.0	128.0					11																	8969885		2201	4296	6497	SO:0001819	synonymous_variant	56674				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity	g.chr11:8969885C>T	AJ400877	CCDS7796.1, CCDS66021.1	11p15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000175348	ENSG00000175348			1168	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 15"""	C11orf15		11528127	Standard	NM_001286095		Approved		uc001mhe.1	Q9NQ34	OTTHUMG00000165676	ENST00000534025.1:c.579G>A	11.37:g.8969885C>T		False	False		Somatic	0				TMEM9B_ENST00000309134.5_Silent_p.R119R|TMEM9B_ENST00000525069.1_Silent_p.R119R	p.R193R	NM_020644.1	NP_065695.1	WXS	Illumina HiSeq	Phase_I	Q9NQ34	TMM9B_HUMAN		Epithelial(150;4.39e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0237)	5	1038	-			193					Q7Z649	Silent	SNP	ENST00000534025.1	37	c.579G>A	CCDS7796.1																																																																																				0.488	TMEM9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385722.1	0			11:8969885
FBXO10	26267	broad.mit.edu	37	9	37518160	37518160	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:37518160C>T	ENST00000432825.2	-	9	2524	c.2476G>A	c.(2476-2478)Ggc>Agc	p.G826S	FBXO10_ENST00000541829.1_Missense_Mutation_p.G351S|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	826					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		AGCCCGCTGCCCCGGTTGCCA	0.567																																						ENST00000432825.2		NA																	0				breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(2476-2478)Ggc>Agc		F-box protein 10							79.0	83.0	82.0					9																	37518160		2028	4181	6209	SO:0001583	missense	26267					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr9:37518160C>T	AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"""F-boxes /  ""other"""""	13589	protein-coding gene	gene with protein product		609092	"""F-box only protein 10"""			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.2476G>A	9.37:g.37518160C>T	ENSP00000403802:p.Gly826Ser	True	False		Somatic	0				FBXO10_ENST00000541829.1_Missense_Mutation_p.G351S|RP11-613M10.8_ENST00000544475.1_5'UTR	p.G826S	NM_012166.2	NP_036298.2	WXS	Illumina HiSeq	Phase_I	Q9UK96	FBX10_HUMAN		GBM - Glioblastoma multiforme(29;0.0107)	9	2524	-			826					Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Missense_Mutation	SNP	ENST00000432825.2	37	c.2476G>A	CCDS47966.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710231	0.89018	.	.	ENSG00000147912	ENST00000432825;ENST00000541829	D;D	0.81821	-1.54;-1.54	5.37	5.37	0.77165	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.117372	0.56097	D	0.000022	D	0.82903	0.5138	L	0.27053	0.805	0.58432	D	0.99999	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.72075	0.976;0.965;0.965	T	0.79344	-0.1842	10	0.19590	T	0.45	-13.3359	17.9097	0.88930	0.0:1.0:0.0:0.0	.	705;351;826	Q59F51;Q08AL4;Q9UK96	.;.;FBX10_HUMAN	S	826;351	ENSP00000403802:G826S;ENSP00000441307:G351S	ENSP00000403802:G826S	G	-	1	0	FBXO10	37508160	0.998000	0.40836	1.000000	0.80357	0.941000	0.58515	3.442000	0.52900	2.505000	0.84491	0.655000	0.94253	GGC		0.567	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3	0			9:37518160
DDX60	55601	broad.mit.edu	37	4	169197237	169197237	+	Missense_Mutation	SNP	G	G	A	rs140580597		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:169197237G>A	ENST00000393743.3	-	15	2365	c.2074C>T	c.(2074-2076)Cgg>Tgg	p.R692W		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	692					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ATGAGTTGCCGATCATCTTCT	0.368													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16711	0.0		0.0	False		,,,				2504	0.0					ENST00000393743.3		NA																	0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(2074-2076)Cgg>Tgg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60		G	TRP/ARG	4,4402	8.1+/-20.4	0,4,2199	143.0	140.0	141.0		2074	1.2	0.1	4	dbSNP_134	141	0,8600		0,0,4300	no	missense	DDX60	NM_017631.5	101	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	probably-damaging	692/1713	169197237	4,13002	2203	4300	6503	SO:0001583	missense	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169197237G>A	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.2074C>T	4.37:g.169197237G>A	ENSP00000377344:p.Arg692Trp	False	False		Somatic	0					p.R692W	NM_017631.5	NP_060101.3	WXS	Illumina HiSeq	Phase_I	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	15	2365	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	692					Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.2074C>T	CCDS34097.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	10.57	1.387186	0.25031	9.08E-4	0.0	ENSG00000137628	ENST00000393743	T	0.18960	2.18	5.15	1.19	0.21007	.	1.713730	0.03101	N	0.161165	T	0.21509	0.0518	L	0.54323	1.7	0.09310	N	1	D	0.65815	0.995	B	0.43445	0.42	T	0.14783	-1.0460	10	0.37606	T	0.19	.	2.5362	0.04715	0.2638:0.125:0.4836:0.1276	.	692	Q8IY21	DDX60_HUMAN	W	692	ENSP00000377344:R692W	ENSP00000377344:R692W	R	-	1	2	DDX60	169433812	0.000000	0.05858	0.053000	0.19242	0.030000	0.12068	-0.134000	0.10436	0.266000	0.21894	0.557000	0.71058	CGG		0.368	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	0	NM_017631		4:169197237
MARCO	8685	broad.mit.edu	37	2	119739962	119739962	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:119739962C>A	ENST00000327097.4	+	12	1174	c.1039C>A	c.(1039-1041)Ctg>Atg	p.L347M	MARCO_ENST00000541757.1_Missense_Mutation_p.L269M	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	347	Collagen-like.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGCCACAGGCCTGAAAGGAAG	0.562																																					GBM(8;18 374 7467 11269 32796)	ENST00000541757.1		NA																	0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						c.(805-807)Ctg>Atg		macrophage receptor with collagenous structure							159.0	168.0	165.0					2																	119739962		2203	4300	6503	SO:0001583	missense	8685				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	g.chr2:119739962C>A	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.1039C>A	2.37:g.119739962C>A	ENSP00000318916:p.Leu347Met	False	False		Somatic	0				MARCO_ENST00000327097.4_Missense_Mutation_p.L347M	p.L269M			WXS	Illumina HiSeq	Phase_I	Q9UEW3	MARCO_HUMAN			13	1185	+			347			Collagen-like.		B4DW79|Q9Y5S3	Missense_Mutation	SNP	ENST00000327097.4	37	c.805C>A	CCDS2124.1	.	.	.	.	.	.	.	.	.	.	C	6.959	0.546757	0.13312	.	.	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757	D;D	0.93712	-3.27;-3.27	4.96	-7.28	0.01456	.	1.405680	0.04250	N	0.338481	D	0.86062	0.5843	L	0.45137	1.4	0.09310	N	1	P	0.34546	0.456	B	0.29716	0.106	T	0.76589	-0.2904	9	.	.	.	.	4.354	0.11169	0.4457:0.1275:0.3468:0.08	.	347	Q9UEW3	MARCO_HUMAN	M	347;347;269	ENSP00000318916:L347M;ENSP00000441769:L269M	.	L	+	1	2	MARCO	119456432	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-4.595000	0.00211	-0.929000	0.03757	-0.182000	0.12963	CTG		0.562	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	0	NM_006770		2:119739962
CYTH2	9266	broad.mit.edu	37	19	48981402	48981402	+	Splice_Site	SNP	G	G	A	rs530989167		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:48981402G>A	ENST00000452733.2	+	9	1361	c.885G>A	c.(883-885)acG>acA	p.T295T	CYTH2_ENST00000427476.1_Splice_Site_p.T296T|CTC-273B12.8_ENST00000599877.1_lincRNA			Q99418	CYH2_HUMAN	cytohesin 2	296	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|inositol 1,4,5 trisphosphate binding (GO:0070679)|lipid binding (GO:0008289)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						AGTACACCACGGTGAGCGTGA	0.652													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13767	0.0		0.0	False		,,,				2504	0.0					ENST00000427476.1		NA																	0				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(886-888)acG>acA		cytohesin 2							55.0	54.0	54.0					19																	48981402		2203	4300	6503	SO:0001630	splice_region_variant	9266				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr19:48981402G>A	X99753	CCDS12722.1	19q13.32	2014-05-02	2008-08-14	2008-08-14	ENSG00000105443	ENSG00000105443		"""Pleckstrin homology (PH) domain containing"""	9502	protein-coding gene	gene with protein product		602488	"""pleckstrin homology, Sec7 and coiled/coil domains 2 (cytohesin-2)"", ""pleckstrin homology, Sec7 and coiled-coil domains 2"""	PSCD2L, PSCD2		8706128, 8945478, 20525696	Standard	NM_004228		Approved	CTS18.1, Sec7p-L, ARNO, Sec7p-like, cytohesin-2	uc002pjj.4	Q99418	OTTHUMG00000150245	ENST00000452733.2:c.885+1G>A	19.37:g.48981402G>A		False	False		Somatic	0				CYTH2_ENST00000452733.2_Splice_Site_p.T295T	p.T296T	NM_004228.6|NM_017457.5	NP_004219.3|NP_059431.1	WXS	Illumina HiSeq	Phase_I	Q99418	CYH2_HUMAN			9	1188	+			296			PH.		A8K8P0|Q8IXY9|Q92958	Splice_Site	SNP	ENST00000452733.2	37	c.888G>A	CCDS12722.1																																																																																				0.652	CYTH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317060.1	0	NM_004228	Silent	19:48981402
ATP1B4	23439	broad.mit.edu	37	X	119509336	119509336	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:119509336C>T	ENST00000218008.3	+	5	729	c.672C>T	c.(670-672)cgC>cgT	p.R224R	ATP1B4_ENST00000539306.1_Silent_p.R181R|ATP1B4_ENST00000361319.3_Silent_p.R220R	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	224					monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890)	monovalent inorganic cation transmembrane transporter activity (GO:0015077)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						AATTTAAGCGCTCCTTCCTAA	0.478																																						ENST00000218008.3		NA																	0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(670-672)cgC>cgT		ATPase, Na+/K+ transporting, beta 4 polypeptide							163.0	143.0	150.0					X																	119509336		2203	4300	6503	SO:0001819	synonymous_variant	23439				ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	g.chrX:119509336C>T	AF158383	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892		"""ATPases / P-type"""	808	protein-coding gene	gene with protein product	"""Na,K-ATPase beta m-subunit"""		"""ATPase, (Na+)/K+ transporting, beta 4 polypeptide"""			10456317, 17592128	Standard	NM_012069		Approved		uc004esr.3	Q9UN42	OTTHUMG00000022299	ENST00000218008.3:c.672C>T	X.37:g.119509336C>T		True	False		Somatic	0				ATP1B4_ENST00000361319.3_Silent_p.R220R|ATP1B4_ENST00000539306.1_Silent_p.R181R	p.R224R	NM_001142447.2	NP_001135919.1	WXS	Illumina HiSeq	Phase_I	Q9UN42	AT1B4_HUMAN			5	729	+			224					Q17RR0|Q9UN41	Silent	SNP	ENST00000218008.3	37	c.672C>T	CCDS48158.1																																																																																				0.478	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058095.1	0	NM_001142447		X:119509336
HDAC4	9759	broad.mit.edu	37	2	240056274	240056274	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:240056274C>T	ENST00000345617.3	-	10	1835	c.1044G>A	c.(1042-1044)tcG>tcA	p.S348S	HDAC4_ENST00000543185.1_5'UTR|HDAC4_ENST00000541256.1_Silent_p.S317S|HDAC4_ENST00000553145.1_5'UTR	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	348					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GCAAGGATGGCGATGTGTAGA	0.632																																						ENST00000345617.3		NA																	0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62						c.(1042-1044)tcG>tcA		histone deacetylase 4							120.0	120.0	120.0					2																	240056274		2203	4300	6503	SO:0001819	synonymous_variant	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:240056274C>T	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.1044G>A	2.37:g.240056274C>T		False	False		Somatic	0				HDAC4_ENST00000541256.1_Silent_p.S317S|HDAC4_ENST00000543185.1_5'UTR|HDAC4_ENST00000553145.1_5'UTR	p.S348S	NM_006037.3	NP_006028.2	WXS	Illumina HiSeq	Phase_I	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	10	1835	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	348					Q9UND6	Silent	SNP	ENST00000345617.3	37	c.1044G>A	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	C	0.975	-0.698923	0.03279	.	.	ENSG00000068024	ENST00000445704	.	.	.	4.32	-3.3	0.05003	.	.	.	.	.	T	0.50051	0.1593	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43556	-0.9384	4	.	.	.	.	7.0263	0.24942	0.1417:0.3633:0.0:0.495	.	.	.	.	H	92	.	.	R	-	2	0	HDAC4	239721211	0.000000	0.05858	0.134000	0.22075	0.094000	0.18550	-6.383000	0.00068	-0.870000	0.04047	0.561000	0.74099	CGC		0.632	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	0	NM_006037		2:240056274
KDM2B	84678	broad.mit.edu	37	12	121878657	121878657	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:121878657A>G	ENST00000377071.4	-	21	3644	c.3572T>C	c.(3571-3573)aTg>aCg	p.M1191T	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.M559T|KDM2B_ENST00000377069.4_Missense_Mutation_p.M1122T	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1191					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GAGATCCCGCATCTGGGCATC	0.632																																						ENST00000377069.4		NA																	0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(3364-3366)aTg>aCg		lysine (K)-specific demethylase 2B							37.0	44.0	42.0					12																	121878657		2092	4221	6313	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121878657A>G	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.3572T>C	12.37:g.121878657A>G	ENSP00000366271:p.Met1191Thr	False	False		Somatic	0				KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.M559T|KDM2B_ENST00000377071.4_Missense_Mutation_p.M1191T	p.M1122T	NM_001005366.1	NP_001005366.1	WXS	Illumina HiSeq	Phase_I	Q8NHM5	KDM2B_HUMAN			20	3771	-			1191					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.3365T>C	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.587506	0.86851	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.29655	1.56;1.56;1.56	5.92	5.92	0.95590	.	0.093076	0.46758	D	0.000261	T	0.41743	0.1172	L	0.44542	1.39	0.80722	D	1	P;D;D;P	0.59357	0.936;0.985;0.985;0.936	P;P;P;P	0.53518	0.642;0.728;0.535;0.642	T	0.28713	-1.0035	10	0.87932	D	0	-38.4419	16.3648	0.83312	1.0:0.0:0.0:0.0	.	631;1191;1122;634	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	T	1179;559;1122;1191;634;1194	ENSP00000437821:M559T;ENSP00000366269:M1122T;ENSP00000366271:M1191T	ENSP00000261824:M1194T	M	-	2	0	KDM2B	120363040	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.263000	0.75096	0.533000	0.62120	ATG		0.632	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	0	NM_032590		12:121878657
SLTM	79811	broad.mit.edu	37	15	59179218	59179218	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:59179218C>T	ENST00000380516.2	-	19	2878	c.2791G>A	c.(2791-2793)Gag>Aag	p.E931K	AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Missense_Mutation_p.E500K	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	931					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTGTCTCCCTCTCTGCTCCCG	0.572																																						ENST00000380516.2		NA																	0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2791-2793)Gag>Aag		SAFB-like, transcription modulator							99.0	85.0	89.0					15																	59179218		2192	4292	6484	SO:0001583	missense	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59179218C>T	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.2791G>A	15.37:g.59179218C>T	ENSP00000369887:p.Glu931Lys	True	False		Somatic	0				SLTM_ENST00000536328.1_Missense_Mutation_p.E500K	p.E931K	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	WXS	Illumina HiSeq	Phase_I	Q9NWH9	SLTM_HUMAN			19	2878	-			931					A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000380516.2	37	c.2791G>A	CCDS10168.2	.	.	.	.	.	.	.	.	.	.	C	25.3	4.621572	0.87460	.	.	ENSG00000137776	ENST00000380516;ENST00000432750;ENST00000536328	T	0.15718	2.4	5.9	5.9	0.94986	.	0.099394	0.43579	D	0.000549	T	0.33440	0.0863	L	0.47716	1.5	0.46701	D	0.999163	D;D	0.67145	0.987;0.996	P;P	0.58928	0.713;0.848	T	0.00544	-1.1679	10	0.62326	D	0.03	.	18.4626	0.90745	0.0:1.0:0.0:0.0	.	931;500	Q9NWH9;A8K5V8	SLTM_HUMAN;.	K	931;497;500	ENSP00000369887:E931K	ENSP00000369887:E931K	E	-	1	0	SLTM	56966510	1.000000	0.71417	0.723000	0.30687	0.606000	0.37113	5.686000	0.68211	2.786000	0.95864	0.563000	0.77884	GAG		0.572	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	0	NM_024755		15:59179218
