#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
KBTBD4	55709	broad.mit.edu	37	11	47595092	47595094	+	In_Frame_Del	DEL	CGA	CGA	-			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	CGA	CGA	-	-	CGA	CGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:47595092_47595094delCGA	ENST00000526005.1	-	4	1098_1100	c.945_947delTCG	c.(943-948)cctcgg>ccg	p.R316del	KBTBD4_ENST00000430070.2_In_Frame_Del_p.R332del|KBTBD4_ENST00000395288.2_In_Frame_Del_p.R316del|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000533290.1_In_Frame_Del_p.R341del|RNU5E-10P_ENST00000363506.1_RNA			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	316										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						GAGCCGGTCCCGAGGCAAAGGAG	0.571																																						ENST00000526005.1		NA																	0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						c.(943-948)cctcgg>ccg		kelch repeat and BTB (POZ) domain containing 4																																				SO:0001651	inframe_deletion	55709							g.chr11:47595092_47595094delCGA	AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"""BTB/POZ domain containing"""	23761	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 4"""	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.945_947delTCG	11.37:g.47595092_47595094delCGA	ENSP00000433340:p.Arg316del	True	False		Somatic	1				NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000533290.1_In_Frame_Del_p.R341del|KBTBD4_ENST00000395288.2_In_Frame_Del_p.R316del|KBTBD4_ENST00000430070.2_In_Frame_Del_p.R332del	p.R316del			WXS	Illumina HiSeq	Phase_I	Q9NVX7	KBTB4_HUMAN			4	1098_1100	-			316					D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	In_Frame_Del	DEL	ENST00000526005.1	37	c.945_947delTCG	CCDS7940.1																																																																																				0.571	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000391763.1	0	NM_016506		11:47595092
RBM4	5936	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000409406.1	+	2	1633_1653	c.856_876delGCTGCTGCTGCAGCAGCAGCC	c.(856-876)gctgctgctgcagcagcagccdel	p.AAAAAAA286del	RBM14-RBM4_ENST00000412278.2_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000398692.4_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_ENST00000578778.1_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000506523.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del	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
HERC2P2	400322	broad.mit.edu	37	15	23283336	23283337	+	RNA	INS	-	-	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr15:23283336_23283337insT	ENST00000560464.1	-	0	5097									hect domain and RLD 2 pseudogene 2																		CTTCCCAATGAGAATCTCTGAA	0.426																																						ENST00000560464.1		NA																	0					NA																																														0							g.chr15:23283336_23283337insT	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23283336_23283337insT		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	5097	-			NA						RNA	INS	ENST00000560464.1	37																																																																																						0.426	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1	0			15:23283336
NCOA3	8202	broad.mit.edu	37	20	46279833	46279834	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr20:46279833_46279834delGC	ENST00000371998.3	+	20	3950_3951	c.3759_3760delGC	c.(3757-3762)cagcaafs	p.QQ1253fs	NCOA3_ENST00000372004.3_Frame_Shift_Del_p.QQ1249fs|NCOA3_ENST00000341724.6_Frame_Shift_Del_p.QQ1179fs|NCOA3_ENST00000371997.3_Frame_Shift_Del_p.QQ1244fs			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagca	0.55																																						ENST00000372004.3		NA																	0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3745-3750)cagcaafs		nuclear receptor coactivator 3																																				SO:0001589	frameshift_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279833_46279834delGC	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3759_3760delGC	20.37:g.46279833_46279834delGC	ENSP00000361066:p.Gln1253fs	True	False		Somatic	1				NCOA3_ENST00000371998.3_Frame_Shift_Del_p.QQ1253fs|NCOA3_ENST00000341724.6_Frame_Shift_Del_p.QQ1179fs|NCOA3_ENST00000371997.3_Frame_Shift_Del_p.QQ1244fs	p.QQ1249fs	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	WXS	Illumina HiSeq	Phase_I	Q9Y6Q9	NCOA3_HUMAN			20	3963_3964	+			1253		Missing.	Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Frame_Shift_Del	DEL	ENST00000371998.3	37	c.3747_3748delGC	CCDS13407.1																																																																																				0.550	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	0	NM_006534		20:46279833
IRS4	8471	broad.mit.edu	37	X	107979510	107979512	+	In_Frame_Del	DEL	GCC	GCC	-	rs2073114	byFrequency	TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	GCC	GCC	-	-	GCC	GCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chrX:107979510_107979512delGCC	ENST00000372129.2	-	1	139_141	c.63_65delGGC	c.(61-66)gcggca>gca	p.21_22AA>A	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	21	Poly-Ala.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AGCTGCCGCTGCCGCCGCTGCTG	0.616																																						ENST00000372129.2		NA																	0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(61-66)gcggca>gca		insulin receptor substrate 4																																				SO:0001651	inframe_deletion	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107979510_107979512delGCC	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.63_65delGGC	X.37:g.107979513_107979515delGCC	ENSP00000361202:p.Ala25del	True	False		Somatic	2					p.21_22AA>A	NM_003604.2	NP_003595.1	WXS	Illumina HiSeq	Phase_I	O14654	IRS4_HUMAN			1	139_141	-			21			Poly-Ala.			In_Frame_Del	DEL	ENST00000372129.2	37	c.63_65delGGC	CCDS14544.1																																																																																				0.616	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	0	NM_003604		X:107979510
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs376362448|rs2622736	byFrequency	TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394																																						ENST00000260803.4		NA																	0				NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(1621-1626)gacgat>gat		debranching RNA lariats 1																																				SO:0001651	inframe_deletion	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137880741_137880743delTCG	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.1623_1625delCGA	3.37:g.137880741_137880743delTCG	ENSP00000260803:p.Asp542del	False	False		Somatic	1				DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	p.541_542DD>D	NM_016216.3	NP_057300.2	WXS	Illumina HiSeq	Phase_I	Q9UK59	DBR1_HUMAN			8	1776_1778	-			541					Q96GH0|Q9NXQ6	In_Frame_Del	DEL	ENST00000260803.4	37	c.1623_1625delCGA	CCDS33863.1																																																																																				0.394	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1	0			3:137880741
IGF2R	3482	broad.mit.edu	37	6	160465585	160465585	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:160465585C>T	ENST00000356956.1	+	13	1809	c.1661C>T	c.(1660-1662)tCt>tTt	p.S554F		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	554					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TTTATTTCCTCTCCCATGAAA	0.348																																						ENST00000356956.1		NA																	0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(1660-1662)tCt>tTt		insulin-like growth factor 2 receptor							40.0	41.0	41.0					6																	160465585		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160465585C>T	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.1661C>T	6.37:g.160465585C>T	ENSP00000349437:p.Ser554Phe	False	False		Somatic	0					p.S554F	NM_000876.2	NP_000867.2	WXS	Illumina HiSeq	Phase_I	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	13	1809	+		Breast(66;0.000777)|Ovarian(120;0.0305)	554					Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.1661C>T	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.706258	0.68615	.	.	ENSG00000197081	ENST00000356956	T	0.02656	4.21	5.91	5.91	0.95273	Mannose-6-phosphate receptor, binding (1);	0.210963	0.51477	D	0.000082	T	0.12008	0.0292	M	0.82517	2.595	0.53688	D	0.999974	D	0.58620	0.983	P	0.62649	0.905	T	0.00583	-1.1659	10	0.66056	D	0.02	-9.3461	20.2985	0.98592	0.0:1.0:0.0:0.0	.	554	P11717	MPRI_HUMAN	F	554	ENSP00000349437:S554F	ENSP00000349437:S554F	S	+	2	0	IGF2R	160385575	1.000000	0.71417	0.927000	0.36925	0.330000	0.28571	5.766000	0.68843	2.793000	0.96121	0.655000	0.94253	TCT		0.348	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	0	NM_000876		6:160465585
CBWD3	445571	broad.mit.edu	37	9	70871889	70871889	+	Silent	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	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
ZFYVE26	23503	broad.mit.edu	37	14	68260952	68260952	+	Silent	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr14:68260952G>A	ENST00000347230.4	-	13	2475	c.2337C>T	c.(2335-2337)ggC>ggT	p.G779G	ZFYVE26_ENST00000555452.1_Silent_p.G779G	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	779					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CTCTGTCTCGGCCATCTACAG	0.458																																						ENST00000347230.4		NA																	0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(2335-2337)ggC>ggT		zinc finger, FYVE domain containing 26							211.0	182.0	192.0					14																	68260952		2203	4300	6503	SO:0001819	synonymous_variant	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68260952G>A	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.2337C>T	14.37:g.68260952G>A		False	False		Somatic	0				ZFYVE26_ENST00000555452.1_Silent_p.G779G	p.G779G	NM_015346.3	NP_056161.2	WXS	Illumina HiSeq	Phase_I	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	13	2475	-			779					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	ENST00000347230.4	37	c.2337C>T	CCDS9788.1																																																																																				0.458	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	0	NM_015346		14:68260952
HIF3A	64344	broad.mit.edu	37	19	46807230	46807230	+	Silent	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:46807230G>A	ENST00000377670.4	+	2	133	c.102G>A	c.(100-102)ctG>ctA	p.L34L	HIF3A_ENST00000300862.3_Silent_p.L32L|HIF3A_ENST00000472815.1_Missense_Mutation_p.C14Y|RNU6-924P_ENST00000362926.1_RNA|HIF3A_ENST00000339613.2_5'UTR|HIF3A_ENST00000244303.6_Missense_Mutation_p.C14Y|HIF3A_ENST00000600383.1_Missense_Mutation_p.C14Y|HIF3A_ENST00000420102.2_Missense_Mutation_p.C32Y	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	34	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CCGAGGTGCTGTACCAGCTGG	0.672																																						ENST00000244303.6		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33						c.(40-42)tGt>tAt		hypoxia inducible factor 3, alpha subunit							12.0	15.0	14.0					19																	46807230		2193	4293	6486	SO:0001819	synonymous_variant	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46807230G>A	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"""Basic helix-loop-helix proteins"""	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.102G>A	19.37:g.46807230G>A		False	False		Somatic	0				HIF3A_ENST00000420102.2_Missense_Mutation_p.C32Y|HIF3A_ENST00000339613.2_5'UTR|HIF3A_ENST00000377670.4_Silent_p.L34L|HIF3A_ENST00000300862.3_Silent_p.L32L|HIF3A_ENST00000472815.1_Missense_Mutation_p.C14Y|HIF3A_ENST00000600383.1_Missense_Mutation_p.C14Y	p.C14Y	NM_022462.4	NP_071907.4	WXS	Illumina HiSeq	Phase_I	Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	2	201	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	525					B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	ENST00000377670.4	37	c.41G>A	CCDS12681.2	.	.	.	.	.	.	.	.	.	.	G	18.94	3.729761	0.69074	.	.	ENSG00000124440	ENST00000457865;ENST00000244303;ENST00000533145;ENST00000457771;ENST00000420102	T;T	0.67171	-0.16;-0.25	4.97	2.85	0.33270	.	.	.	.	.	T	0.53433	0.1796	.	.	.	0.80722	D	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.001;0.001	T	0.53287	-0.8460	8	0.87932	D	0	.	4.5387	0.12047	0.1824:0.0:0.6419:0.1757	.	32;14;32	F5H884;B4DNA2;B4DSD9	.;.;.	Y	14;14;14;14;32	ENSP00000244303:C14Y;ENSP00000407771:C32Y	ENSP00000244303:C14Y	C	+	2	0	HIF3A	51499070	0.834000	0.29399	1.000000	0.80357	0.998000	0.95712	-0.000000	0.12993	0.811000	0.34303	0.563000	0.77884	TGT		0.672	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3	0			19:46807230
PTRF	284119	broad.mit.edu	37	17	40557353	40557353	+	Silent	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr17:40557353C>T	ENST00000357037.5	-	2	944	c.525G>A	c.(523-525)tcG>tcA	p.S175S		NM_012232.5	NP_036364.2			polymerase I and transcript release factor									p.S175S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		GCAGCGCCTCCGACTCTTTCA	0.647																																						ENST00000357037.5		NA																	1	Substitution - coding silent(1)	p.S175S(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17						c.(523-525)tcG>tcA		polymerase I and transcript release factor							81.0	88.0	86.0					17																	40557353		2203	4300	6503	SO:0001819	synonymous_variant	284119				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding	g.chr17:40557353C>T	AF000421	CCDS11425.1	17q21.31	2011-04-20				ENSG00000177469			9688	protein-coding gene	gene with protein product		603198				9582279	Standard	NM_012232		Approved	cavin-1, CAVIN1	uc002hzo.3	Q6NZI2		ENST00000357037.5:c.525G>A	17.37:g.40557353C>T		False	False		Somatic	0					p.S175S	NM_012232.5	NP_036364.2	WXS	Illumina HiSeq	Phase_I	Q6NZI2	PTRF_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.193)	2	944	-		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)	175						Silent	SNP	ENST00000357037.5	37	c.525G>A	CCDS11425.1																																																																																				0.647	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449938.1	0	NM_012232		17:40557353
ATP2B1	490	broad.mit.edu	37	12	90036041	90036041	+	Missense_Mutation	SNP	T	T	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:90036041T>A	ENST00000428670.3	-	3	756	c.300A>T	c.(298-300)caA>caT	p.Q100H	ATP2B1_ENST00000359142.3_Missense_Mutation_p.Q100H|ATP2B1_ENST00000261173.2_Missense_Mutation_p.Q100H|ATP2B1_ENST00000348959.3_Missense_Mutation_p.Q100H			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	100					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CCCATACTAATTGAAGAAAGG	0.343																																						ENST00000428670.3		NA																	0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(298-300)caA>caT		ATPase, Ca++ transporting, plasma membrane 1							198.0	232.0	221.0					12																	90036041		2203	4300	6503	SO:0001583	missense	490				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr12:90036041T>A	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.300A>T	12.37:g.90036041T>A	ENSP00000392043:p.Gln100His	False	False		Somatic	0				ATP2B1_ENST00000261173.2_Missense_Mutation_p.Q100H|ATP2B1_ENST00000359142.3_Missense_Mutation_p.Q100H|ATP2B1_ENST00000348959.3_Missense_Mutation_p.Q100H	p.Q100H			WXS	Illumina HiSeq	Phase_I	P20020	AT2B1_HUMAN			3	756	-			100					Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	37	c.300A>T	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.237947	0.79800	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.76	-5.69	0.02428	.	0.000000	0.85682	D	0.000000	D	0.83275	0.5219	M	0.79805	2.47	0.53005	D	0.99996	D;P	0.63880	0.993;0.5	P;P	0.60682	0.878;0.55	D	0.84356	0.0535	9	.	.	.	-20.2557	15.3162	0.74081	0.0:0.6036:0.0:0.3964	.	100;100	P20020-3;P20020-2	.;.	H	100	ENSP00000261173:Q100H;ENSP00000343599:Q100H;ENSP00000352054:Q100H;ENSP00000392043:Q100H	.	Q	-	3	2	ATP2B1	88560172	0.015000	0.18098	0.906000	0.35671	0.986000	0.74619	-0.835000	0.04386	-0.979000	0.03529	0.379000	0.24179	CAA		0.343	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	0	NM_001682		12:90036041
SLCO4A1	28231	broad.mit.edu	37	20	61300301	61300301	+	Silent	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr20:61300301C>T	ENST00000370507.1	+	10	1992	c.1896C>T	c.(1894-1896)atC>atT	p.I632I	RP11-93B14.5_ENST00000433126.1_RNA|SLCO4A1_ENST00000470412.1_3'UTR|SLCO4A1_ENST00000217159.1_Silent_p.I632I|RP11-93B14.5_ENST00000451648.1_RNA|RP11-93B14.5_ENST00000411824.1_RNA			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	632					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CGGGGCCCATCGCCTTCGGCT	0.662											OREG0026115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(168;741 2006 10379 40139 45334)	ENST00000217159.1		NA																	0				endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21						c.(1894-1896)atC>atT		solute carrier organic anion transporter family, member 4A1							34.0	36.0	35.0					20																	61300301		2202	4300	6502	SO:0001819	synonymous_variant	28231				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr20:61300301C>T	AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"""Solute carriers"""	10953	protein-coding gene	gene with protein product		612436	"""solute carrier family 21 (organic anion transporter), member 12"""	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.1896C>T	20.37:g.61300301C>T		False	False		Somatic	0	OREG0026115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1052	SLCO4A1_ENST00000370507.1_Silent_p.I632I|SLCO4A1_ENST00000470412.1_3'UTR	p.I632I	NM_016354.3	NP_057438.3	WXS	Illumina HiSeq	Phase_I	Q96BD0	SO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		11	2101	+	Breast(26;3.65e-08)		632					Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Silent	SNP	ENST00000370507.1	37	c.1896C>T	CCDS13501.1																																																																																				0.662	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	0	NM_016354		20:61300301
PDZRN4	29951	broad.mit.edu	37	12	41966704	41966704	+	Missense_Mutation	SNP	G	G	A	rs200771912	byFrequency	TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:41966704G>A	ENST00000402685.2	+	10	2131	c.2123G>A	c.(2122-2124)cGg>cAg	p.R708Q	PDZRN4_ENST00000298919.7_Missense_Mutation_p.R448Q|PDZRN4_ENST00000539469.2_Missense_Mutation_p.R450Q	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	708							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GGAGGATTCCGGAATTATAAC	0.443													G|||	2	0.000399361	0.0	0.0	5008	,	,		22541	0.001		0.0	False		,,,				2504	0.001					ENST00000298919.7		NA																	0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(1342-1344)cGg>cAg		PDZ domain containing ring finger 4							98.0	100.0	99.0					12																	41966704		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41966704G>A	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2123G>A	12.37:g.41966704G>A	ENSP00000384197:p.Arg708Gln	False	False		Somatic	0				PDZRN4_ENST00000402685.2_Missense_Mutation_p.R708Q|PDZRN4_ENST00000539469.2_Missense_Mutation_p.R450Q	p.R448Q			WXS	Illumina HiSeq	Phase_I	Q6ZMN7	PZRN4_HUMAN			10	1731	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	708			PDZ 2.		Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.1343G>A	CCDS53777.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	10.61	1.398179	0.25205	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.72505	-0.66;3.83;3.83	4.32	3.42	0.39159	.	0.094359	0.43416	D	0.000561	T	0.65565	0.2703	M	0.76838	2.35	0.39920	D	0.974143	B;B;B	0.31503	0.114;0.326;0.043	B;B;B	0.24269	0.003;0.052;0.014	T	0.64892	-0.6300	10	0.34782	T	0.22	-7.5442	9.2356	0.37464	0.0828:0.1469:0.7702:0.0	.	708;448;450	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	Q	708;450;448	ENSP00000384197:R708Q;ENSP00000439990:R450Q;ENSP00000298919:R448Q	ENSP00000298919:R448Q	R	+	2	0	PDZRN4	40252971	1.000000	0.71417	0.981000	0.43875	0.762000	0.43233	2.333000	0.43912	1.124000	0.41980	0.650000	0.86243	CGG		0.443	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	0	NM_013377		12:41966704
ANKRD34A	284615	broad.mit.edu	37	1	145474036	145474036	+	Silent	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr1:145474036C>T	ENST00000323397.4	+	4	2001	c.708C>T	c.(706-708)cgC>cgT	p.R236R	RP11-315I20.1_ENST00000600340.1_RNA	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	236	Pro-rich.					cytoplasm (GO:0005737)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AACCACCACGCCATCCCCCAA	0.622																																						ENST00000323397.4		NA																	0				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(706-708)cgC>cgT		ankyrin repeat domain 34A							71.0	83.0	79.0					1																	145474036		2203	4300	6503	SO:0001819	synonymous_variant	284615							g.chr1:145474036C>T	AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"""Ankyrin repeat domain containing"""	27639	protein-coding gene	gene with protein product			"""ankyrin repeat domain 34"""	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.708C>T	1.37:g.145474036C>T		False	False		Somatic	0					p.R236R	NM_001039888.2	NP_001034977.1	WXS	Illumina HiSeq	Phase_I	Q69YU3	AN34A_HUMAN			4	2001	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		236			Pro-rich.		B3KSU3	Silent	SNP	ENST00000323397.4	37	c.708C>T	CCDS30829.1																																																																																				0.622	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038512.1	0			1:145474036
DNAH10	196385	broad.mit.edu	37	12	124317833	124317833	+	Missense_Mutation	SNP	C	C	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:124317833C>A	ENST00000409039.3	+	26	4389	c.4364C>A	c.(4363-4365)cCt>cAt	p.P1455H		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1455	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTTGTGGGGCCTTTTCTGCAA	0.433																																						ENST00000409039.3		NA																	0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(4363-4365)cCt>cAt		dynein, axonemal, heavy chain 10							65.0	63.0	63.0					12																	124317833		1875	4106	5981	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124317833C>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.4364C>A	12.37:g.124317833C>A	ENSP00000386770:p.Pro1455His	True	False		Somatic	0					p.P1455H	NM_207437.3	NP_997320.2	WXS	Illumina HiSeq	Phase_I	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	26	4389	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1455			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.4364C>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	29.1	4.980145	0.92982	.	.	ENSG00000197653	ENST00000409039	T	0.62105	0.05	5.83	5.83	0.93111	Dynein heavy chain, domain-2 (1);	0.000000	0.64402	U	0.000001	T	0.80742	0.4681	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.78600	-0.2141	10	0.40728	T	0.16	.	20.1162	0.97934	0.0:1.0:0.0:0.0	.	1455	Q8IVF4	DYH10_HUMAN	H	1455	ENSP00000386770:P1455H	ENSP00000386770:P1455H	P	+	2	0	DNAH10	122883786	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.756000	0.94617	0.655000	0.94253	CCT		0.433	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3	0			12:124317833
RIMS4	140730	broad.mit.edu	37	20	43386349	43386349	+	Missense_Mutation	SNP	C	C	T	rs141614672	byFrequency	TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr20:43386349C>T	ENST00000372851.3	-	4	479	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	RIMS4_ENST00000541604.2_Missense_Mutation_p.R139Q	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	138	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)		p.R138Q(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				TGTCAGTCCCCGAGCCTGGAT	0.597																																						ENST00000372851.3		NA																	1	Substitution - Missense(1)	p.R138Q(1)	endometrium(1)	central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29						c.(412-414)cGg>cAg		regulating synaptic membrane exocytosis 4		C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	124.0	102.0	109.0		416,413	4.8	0.8	20	dbSNP_134	109	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	RIMS4	NM_001205317.1,NM_182970.3	43,43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	139/271,138/270	43386349	2,13004	2203	4300	6503	SO:0001583	missense	140730				exocytosis|neurotransmitter transport	cell junction|synapse		g.chr20:43386349C>T		CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"""chromosome 20 open reading frame 190"""	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546	ENST00000372851.3:c.413G>A	20.37:g.43386349C>T	ENSP00000361942:p.Arg138Gln	True	False		Somatic	0				RIMS4_ENST00000541604.2_Missense_Mutation_p.R139Q	p.R138Q	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	WXS	Illumina HiSeq	Phase_I	Q9H426	RIMS4_HUMAN			4	479	-		Myeloproliferative disorder(115;0.0122)	138			C2.		A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	ENST00000372851.3	37	c.413G>A	CCDS13338.1	.	.	.	.	.	.	.	.	.	.	C	34	5.371169	0.95923	0.0	2.33E-4	ENSG00000101098	ENST00000372851;ENST00000541604	T;T	0.69806	-0.43;-0.43	5.76	4.82	0.62117	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.82240	0.4994	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70487	0.95;0.969	D	0.85425	0.1145	10	0.87932	D	0	.	14.8657	0.70412	0.0:0.9312:0.0:0.0688	.	139;138	E1P613;Q9H426	.;RIMS4_HUMAN	Q	138;139	ENSP00000361942:R138Q;ENSP00000439287:R139Q	ENSP00000361942:R138Q	R	-	2	0	RIMS4	42819763	1.000000	0.71417	0.813000	0.32504	0.910000	0.53928	6.089000	0.71384	1.457000	0.47850	0.655000	0.94253	CGG		0.597	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	0	NM_182970		20:43386349
SYT10	341359	broad.mit.edu	37	12	33538128	33538128	+	Silent	SNP	C	C	T	rs369118657		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:33538128C>T	ENST00000228567.3	-	4	1472	c.1176G>A	c.(1174-1176)gcG>gcA	p.A392A	SYT10_ENST00000535526.1_Silent_p.A211A	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	392	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TAATATCCATCGCCTTCAGAT	0.413													C|||	1	0.000199681	0.0	0.0	5008	,	,		13748	0.001		0.0	False		,,,				2504	0.0					ENST00000228567.3		NA																	0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42						c.(1174-1176)gcG>gcA		synaptotagmin X							162.0	136.0	145.0					12																	33538128		2203	4300	6503	SO:0001819	synonymous_variant	341359					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr12:33538128C>T	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.1176G>A	12.37:g.33538128C>T		False	False		Somatic	0				SYT10_ENST00000535526.1_Silent_p.A211A	p.A392A	NM_198992.3	NP_945343.1	WXS	Illumina HiSeq	Phase_I	Q6XYQ8	SYT10_HUMAN			4	1472	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		392			C2 2.		Q495U2	Silent	SNP	ENST00000228567.3	37	c.1176G>A	CCDS8732.1																																																																																				0.413	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	0	NM_198992		12:33538128
PCDHA5	56143	broad.mit.edu	37	5	140202956	140202956	+	Silent	SNP	C	C	T	rs202138902	byFrequency	TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr5:140202956C>T	ENST00000529859.1	+	1	1596	c.1596C>T	c.(1594-1596)ttC>ttT	p.F532F	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Silent_p.F532F|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.F532F|PCDHA4_ENST00000530339.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	532	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGCAGTTCCAGGTGAGCG	0.692																																						ENST00000529859.1		NA																	0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(1594-1596)ttC>ttT									46.0	53.0	51.0					5																	140202956		2203	4298	6501	SO:0001819	synonymous_variant	0							g.chr5:140202956C>T	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1596C>T	5.37:g.140202956C>T		False	False		Somatic	0				PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.F532F|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.F532F	p.F532F	NM_018908.2	NP_061731.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1596	+			NA					O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	c.1596C>T	CCDS54917.1																																																																																				0.692	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	0	NM_018908		5:140202956
KRT34	3885	broad.mit.edu	37	17	39537409	39537409	+	Missense_Mutation	SNP	G	G	A	rs375548630		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr17:39537409G>A	ENST00000394001.1	-	3	643	c.613C>T	c.(613-615)Cgc>Tgc	p.R205C		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	205	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				AGGATCCTGCGTATGCTGTTG	0.562																																						ENST00000394001.1		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(613-615)Cgc>Tgc		keratin 34		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	154.0	127.0	136.0		613	5.5	1.0	17		136	0,8600		0,0,4300	no	missense	KRT34	NM_021013.3	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	205/437	39537409	1,13005	2203	4300	6503	SO:0001583	missense	3885				epidermis development	intermediate filament	protein binding|structural molecule activity	g.chr17:39537409G>A	Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6452	protein-coding gene	gene with protein product	"""hard keratin type I 4"""	602763	"""keratin, hair, acidic, 4"""	KRTHA4		2431943, 9756910, 16831889	Standard	NM_021013		Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.613C>T	17.37:g.39537409G>A	ENSP00000377570:p.Arg205Cys	False	False		Somatic	0					p.R205C	NM_021013.3	NP_066293.2	WXS	Illumina HiSeq	Phase_I	O76011	KRT34_HUMAN			3	643	-		Breast(137;0.000496)	205			Coil 1B.|Rod.		Q8IUT8|Q8N4W2	Missense_Mutation	SNP	ENST00000394001.1	37	c.613C>T	CCDS11390.1	.	.	.	.	.	.	.	.	.	.	g	17.97	3.519112	0.64634	2.27E-4	0.0	ENSG00000131737	ENST00000394001;ENST00000251648	.	.	.	5.52	5.52	0.82312	Filament (1);	0.000000	0.64402	D	0.000003	T	0.80019	0.4547	M	0.74881	2.28	0.48341	D	0.999631	D	0.89917	1.0	D	0.85130	0.997	T	0.81852	-0.0742	9	0.87932	D	0	.	18.419	0.90582	0.0:0.0:1.0:0.0	.	205	O76011	KRT34_HUMAN	C	163;205	.	ENSP00000251648:R205C	R	-	1	0	KRT34	36790935	0.995000	0.38212	1.000000	0.80357	0.497000	0.33675	2.210000	0.42816	2.606000	0.88127	0.655000	0.94253	CGC		0.562	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257304.3	0	NM_021013		17:39537409
RPS6KB1	6198	broad.mit.edu	37	17	58009016	58009016	+	Silent	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr17:58009016G>A	ENST00000225577.4	+	7	642	c.621G>A	c.(619-621)ggG>ggA	p.G207G	RPS6KB1_ENST00000443572.2_Silent_p.G184G|RPS6KB1_ENST00000406116.3_Silent_p.G207G|RPS6KB1_ENST00000393021.3_Silent_p.G154G	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	207	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				aging (GO:0007568)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell development (GO:0007281)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue growth (GO:0048633)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of glucose import (GO:0046324)|response to drug (GO:0042493)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to ethanol (GO:0045471)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to leucine (GO:0043201)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|response to tumor necrosis factor (GO:0034612)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			TGGCTTTGGGGCATTTACATC	0.368																																						ENST00000225577.4		NA																	0				endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(619-621)ggG>ggA		ribosomal protein S6 kinase, 70kDa, polypeptide 1							63.0	64.0	63.0					17																	58009016		2203	4300	6503	SO:0001819	synonymous_variant	6198				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity	g.chr17:58009016G>A	M60724	CCDS11621.1, CCDS62271.1, CCDS62272.1, CCDS62273.1	17q23.1	2011-04-05	2002-08-29		ENSG00000108443	ENSG00000108443			10436	protein-coding gene	gene with protein product		608938	"""ribosomal protein S6 kinase, 70kD, polypeptide 1"""	STK14A		1922062	Standard	NM_003161		Approved	S6K1, p70(S6K)-alpha, PS6K	uc002ixy.4	P23443	OTTHUMG00000150642	ENST00000225577.4:c.621G>A	17.37:g.58009016G>A		True	False		Somatic	0				RPS6KB1_ENST00000406116.3_Silent_p.G207G|RPS6KB1_ENST00000393021.3_Silent_p.G154G|RPS6KB1_ENST00000443572.2_Silent_p.G184G	p.G207G	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	WXS	Illumina HiSeq	Phase_I	P23443	KS6B1_HUMAN	Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)		7	642	+	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		207			Protein kinase.		B2R779|B4DLT4|B4DTG1|E7ESB8|F6UYM1|Q7Z721	Silent	SNP	ENST00000225577.4	37	c.621G>A	CCDS11621.1																																																																																				0.368	RPS6KB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319324.1	0	NM_003161		17:58009016
CILP	8483	broad.mit.edu	37	15	65489789	65489789	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr15:65489789C>T	ENST00000261883.4	-	9	3001	c.2835G>A	c.(2833-2835)tgG>tgA	p.W945*		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	945					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TCGGCTTTGGCCACCATGCCA	0.532																																						ENST00000261883.4		NA																	0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						c.(2833-2835)tgG>tgA		cartilage intermediate layer protein, nucleotide pyrophosphohydrolase							118.0	109.0	112.0					15																	65489789		2202	4299	6501	SO:0001587	stop_gained	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65489789C>T	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.2835G>A	15.37:g.65489789C>T	ENSP00000261883:p.Trp945*	False	False		Somatic	0					p.W945*	NM_003613.3	NP_003604.3	WXS	Illumina HiSeq	Phase_I	O75339	CILP1_HUMAN			9	3001	-			945					B2R8F7|Q6UW99|Q8IYI5	Nonsense_Mutation	SNP	ENST00000261883.4	37	c.2835G>A	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	C	40	8.244679	0.98724	.	.	ENSG00000138615	ENST00000261883	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.7735	19.0159	0.92894	0.0:1.0:0.0:0.0	.	.	.	.	X	945	.	ENSP00000261883:W945X	W	-	3	0	CILP	63276842	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.795000	0.85887	2.732000	0.93576	0.655000	0.94253	TGG		0.532	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	0	NM_003613		15:65489789
ACIN1	22985	broad.mit.edu	37	14	23531399	23531399	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr14:23531399G>A	ENST00000262710.1	-	16	3578	c.3251C>T	c.(3250-3252)gCt>gTt	p.A1084V	ACIN1_ENST00000555053.1_Missense_Mutation_p.A1071V|ACIN1_ENST00000397341.3_Missense_Mutation_p.A326V|ACIN1_ENST00000605057.1_Missense_Mutation_p.A1026V|ACIN1_ENST00000457657.1_Missense_Mutation_p.A1044V|ACIN1_ENST00000557515.1_Missense_Mutation_p.A325V|ACIN1_ENST00000338631.6_Missense_Mutation_p.A357V|ACIN1_ENST00000357481.2_Missense_Mutation_p.A326V	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1084					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GGCATAGTCAGCACAAAGGAA	0.537																																						ENST00000262710.1		NA																	0				breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37						c.(3250-3252)gCt>gTt		apoptotic chromatin condensation inducer 1							108.0	112.0	111.0					14																	23531399		2203	4300	6503	SO:0001583	missense	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23531399G>A	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3251C>T	14.37:g.23531399G>A	ENSP00000262710:p.Ala1084Val	False	False		Somatic	0				ACIN1_ENST00000605057.1_Missense_Mutation_p.A1026V|ACIN1_ENST00000557515.1_Missense_Mutation_p.A325V|ACIN1_ENST00000457657.1_Missense_Mutation_p.A1044V|ACIN1_ENST00000357481.2_Missense_Mutation_p.A326V|ACIN1_ENST00000555053.1_Missense_Mutation_p.A1071V|ACIN1_ENST00000397341.3_Missense_Mutation_p.A326V|ACIN1_ENST00000338631.6_Missense_Mutation_p.A357V	p.A1084V	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	WXS	Illumina HiSeq	Phase_I	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	16	3578	-	all_cancers(95;1.36e-05)		1084					B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	c.3251C>T	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	G	9.790	1.177752	0.21787	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053	T;T;T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21;2.21;2.21	5.19	5.19	0.71726	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.38720	N	0.001589	T	0.04407	0.0121	N	0.00289	-1.7	0.44388	D	0.997291	B;B;B;B;B	0.27013	0.137;0.166;0.084;0.111;0.054	B;B;B;B;B	0.35859	0.135;0.212;0.064;0.016;0.011	T	0.41610	-0.9499	10	0.02654	T	1	-9.2231	11.4006	0.49868	0.0848:0.0:0.9152:0.0	.	1071;1084;1044;357;326	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	V	325;357;326;1084;1044;326;1071	ENSP00000451138:A325V;ENSP00000345541:A357V;ENSP00000350073:A326V;ENSP00000262710:A1084V;ENSP00000405677:A1044V;ENSP00000380502:A326V;ENSP00000451328:A1071V	ENSP00000262710:A1084V	A	-	2	0	ACIN1	22601239	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.835000	0.62781	2.578000	0.87016	0.563000	0.77884	GCT		0.537	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	0	NM_014977		14:23531399
KRAS	3845	broad.mit.edu	37	12	25362826	25362826	+	3'UTR	SNP	T	T	C			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:25362826T>C	ENST00000256078.4	-	0	657				KRAS_ENST00000311936.3_Missense_Mutation_p.Y157C|KRAS_ENST00000557334.1_Missense_Mutation_p.Y44C	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog						actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)		UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			AACTAATGTATAGAAGGCATC	0.284		119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3		119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	0				NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(469-471)tAt>tGt		Kirsten rat sarcoma viral oncogene homolog							58.0	57.0	57.0					12																	25362826		2201	4287	6488	SO:0001624	3_prime_UTR_variant	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25362826T>C	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.*24A>G	12.37:g.25362826T>C		False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000256078.4_3'UTR|KRAS_ENST00000557334.1_Missense_Mutation_p.Y44C	p.Y157C	NM_004985.3	NP_004976.2	WXS	Illumina HiSeq	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		5	661	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		157					A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.470A>G	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	T	18.62	3.662479	0.67700	.	.	ENSG00000133703	ENST00000311936;ENST00000557334	T;T	0.80033	-1.33;-1.17	5.43	5.43	0.79202	.	.	.	.	.	D	0.89518	0.6738	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	D	0.90991	0.4835	8	0.87932	D	0	.	14.6577	0.68847	0.0:0.0:0.0:1.0	.	157	P01116-2	.	C	157;44	ENSP00000308495:Y157C;ENSP00000452512:Y44C	ENSP00000308495:Y157C	Y	-	2	0	KRAS	25254093	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.649000	0.83500	2.066000	0.61787	0.482000	0.46254	TAT		0.284	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	NM_033360		12:25362826
PROS1	5627	broad.mit.edu	37	3	93611912	93611912	+	Nonsense_Mutation	SNP	G	G	C	rs374634410		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr3:93611912G>C	ENST00000394236.3	-	10	1336	c.1020C>G	c.(1018-1020)taC>taG	p.Y340*	PROS1_ENST00000407433.1_Nonsense_Mutation_p.Y209*	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	340	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TAGATTCTGCGTACAGTATCA	0.393																																						ENST00000394236.3		NA																	0				endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46						c.(1018-1020)taC>taG		protein S (alpha)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						83.0	77.0	79.0					3																	93611912		2203	4300	6503	SO:0001587	stop_gained	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93611912G>C		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.1020C>G	3.37:g.93611912G>C	ENSP00000377783:p.Tyr340*	False	False		Somatic	0				PROS1_ENST00000407433.1_Nonsense_Mutation_p.Y209*	p.Y340*	NM_000313.3	NP_000304.2	WXS	Illumina HiSeq	Phase_I	P07225	PROS_HUMAN			10	1336	-			340			Laminin G-like 1.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Nonsense_Mutation	SNP	ENST00000394236.3	37	c.1020C>G	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	G	36	5.885622	0.97068	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	.	.	.	4.47	2.05	0.26809	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.4211	0.27073	0.7526:0.0:0.2474:0.0	.	.	.	.	X	340;209	.	ENSP00000377783:Y340X	Y	-	3	2	PROS1	95094602	1.000000	0.71417	0.997000	0.53966	0.557000	0.35523	0.858000	0.27845	0.263000	0.21812	-0.324000	0.08512	TAC		0.393	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	0	NM_000313		3:93611912
GPR179	440435	broad.mit.edu	37	17	36485458	36485458	+	Missense_Mutation	SNP	A	A	G			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr17:36485458A>G	ENST00000342292.4	-	11	4014	c.3994T>C	c.(3994-3996)Tcc>Ccc	p.S1332P	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1332					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GACCCAGGGGACAGACCTCCT	0.607																																						ENST00000342292.4		NA																	0				breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(3994-3996)Tcc>Ccc		G protein-coupled receptor 179							48.0	53.0	51.0					17																	36485458		1981	4160	6141	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36485458A>G		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.3994T>C	17.37:g.36485458A>G	ENSP00000345060:p.Ser1332Pro	True	False		Somatic	0					p.S1332P	NM_001004334.2	NP_001004334.2	WXS	Illumina HiSeq	Phase_I	Q6PRD1	GP179_HUMAN			11	4014	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1332						Missense_Mutation	SNP	ENST00000342292.4	37	c.3994T>C	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	A	2.564	-0.301204	0.05495	.	.	ENSG00000188888	ENST00000342292	T	0.53206	0.63	4.74	1.23	0.21249	.	0.407814	0.21212	N	0.078287	T	0.32912	0.0845	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.14839	-1.0458	10	0.39692	T	0.17	-4.2878	4.6654	0.12662	0.6483:0.1668:0.185:0.0	.	1332	Q6PRD1	GP179_HUMAN	P	1332	ENSP00000345060:S1332P	ENSP00000345060:S1332P	S	-	1	0	GPR179	33738984	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.510000	0.22723	0.854000	0.35336	0.374000	0.22700	TCC		0.607	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2	0			17:36485458
PKNOX2	63876	broad.mit.edu	37	11	125299995	125299995	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:125299995G>A	ENST00000298282.9	+	12	1421	c.1150G>A	c.(1150-1152)Gtg>Atg	p.V384M	PKNOX2_ENST00000542175.1_Missense_Mutation_p.V320M|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	384					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CGCTGCGGGGGTGCTGCAGCA	0.622																																						ENST00000298282.9		NA																	0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29						c.(1150-1152)Gtg>Atg		PBX/knotted 1 homeobox 2							52.0	59.0	57.0					11																	125299995		1948	4133	6081	SO:0001583	missense	63876					nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:125299995G>A	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.1150G>A	11.37:g.125299995G>A	ENSP00000298282:p.Val384Met	True	False		Somatic	0				PKNOX2_ENST00000542175.1_Missense_Mutation_p.V320M|PKNOX2_ENST00000530517.1_3'UTR	p.V384M	NM_022062.2	NP_071345.2	WXS	Illumina HiSeq	Phase_I	Q96KN3	PKNX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	12	1421	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	384					B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Missense_Mutation	SNP	ENST00000298282.9	37	c.1150G>A	CCDS41730.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014071	0.75161	.	.	ENSG00000165495	ENST00000530517;ENST00000531116;ENST00000298282;ENST00000542175	D;D;D;D	0.85258	-1.95;-1.95;-1.96;-1.93	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.90328	0.6974	L	0.53249	1.67	0.80722	D	1	D;D;D	0.71674	0.998;0.989;0.978	D;P;P	0.70487	0.969;0.795;0.496	D	0.90201	0.4257	10	0.46703	T	0.11	-13.6476	18.252	0.90006	0.0:0.0:1.0:0.0	.	320;355;384	F5GZ15;B7Z3G7;Q96KN3	.;.;PKNX2_HUMAN	M	355;355;384;320	ENSP00000434732:V355M;ENSP00000433971:V355M;ENSP00000298282:V384M;ENSP00000441470:V320M	ENSP00000298282:V384M	V	+	1	0	PKNOX2	124805205	1.000000	0.71417	0.995000	0.50966	0.606000	0.37113	9.809000	0.99208	2.399000	0.81585	0.462000	0.41574	GTG		0.622	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3	0			11:125299995
FXYD3	5349	broad.mit.edu	37	19	35613737	35613737	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:35613737G>A	ENST00000344013.6	+	6	362	c.166G>A	c.(166-168)Gtc>Atc	p.V56I	FXYD3_ENST00000603181.1_Missense_Mutation_p.V56I|FXYD3_ENST00000346446.5_Missense_Mutation_p.V56I|LGI4_ENST00000493050.1_5'Flank|FXYD3_ENST00000604621.1_Missense_Mutation_p.V56I|FXYD3_ENST00000604255.1_Missense_Mutation_p.V113I|FXYD3_ENST00000604404.1_Missense_Mutation_p.V56I|FXYD3_ENST00000603524.1_Missense_Mutation_p.V85I|FXYD3_ENST00000406242.3_Missense_Mutation_p.V56I|FXYD3_ENST00000406988.1_Missense_Mutation_p.V56I|FXYD3_ENST00000535103.1_Missense_Mutation_p.V113I|FXYD3_ENST00000605550.1_Missense_Mutation_p.V56I|FXYD3_ENST00000604804.1_Missense_Mutation_p.V85I|FXYD3_ENST00000605677.1_Missense_Mutation_p.V56I|FXYD3_ENST00000435734.2_Missense_Mutation_p.V56I			Q14802	FXYD3_HUMAN	FXYD domain containing ion transport regulator 3	56					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of catalytic activity (GO:0050790)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.V56L(1)		endometrium(1)|lung(2)|prostate(1)	4	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			CATCATCATCGTCATGAGTGA	0.637																																						ENST00000435734.2		NA																	1	Substitution - Missense(1)	p.V56L(1)	lung(1)	endometrium(1)|lung(2)|prostate(1)	4						c.(166-168)Gtc>Atc		FXYD domain containing ion transport regulator 3							75.0	80.0	79.0					19																	35613737		2203	4300	6503	SO:0001583	missense	5349					chloride channel complex|integral to plasma membrane	chloride channel activity	g.chr19:35613737G>A	X93036	CCDS12442.1, CCDS12443.1, CCDS46048.1, CCDS46049.1, CCDS46050.1	19q13.11-q13.12	2008-05-14	2002-01-14			ENSG00000089356			4027	protein-coding gene	gene with protein product		604996	"""FXYD domain-containing ion transport regulator 3"""	PLML		7836447, 10950925	Standard	NM_005971		Approved	MAT-8	uc010xsm.2	Q14802		ENST00000344013.6:c.166G>A	19.37:g.35613737G>A	ENSP00000339499:p.Val56Ile	True	False		Somatic	0				FXYD3_ENST00000406988.1_Missense_Mutation_p.V56I|FXYD3_ENST00000406242.3_Missense_Mutation_p.V56I|FXYD3_ENST00000346446.5_Missense_Mutation_p.V56I|FXYD3_ENST00000344013.6_Missense_Mutation_p.V56I|FXYD3_ENST00000604621.1_Missense_Mutation_p.V56I|FXYD3_ENST00000603181.1_Missense_Mutation_p.V56I|FXYD3_ENST00000603524.1_Missense_Mutation_p.V85I|FXYD3_ENST00000604255.1_Missense_Mutation_p.V113I|FXYD3_ENST00000605677.1_Missense_Mutation_p.V56I|FXYD3_ENST00000535103.1_Missense_Mutation_p.V113I|FXYD3_ENST00000604804.1_Missense_Mutation_p.V85I|FXYD3_ENST00000604404.1_Missense_Mutation_p.V56I|FXYD3_ENST00000605550.1_Missense_Mutation_p.V56I	p.V56I	NM_001136011.1|NM_021910.2	NP_001129483.1|NP_068710.1	WXS	Illumina HiSeq	Phase_I	Q14802	FXYD3_HUMAN	Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)		7	425	+	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		56					A6NDE0|C9JDU2|F5H174|F8WB34|Q13211|Q6IB59	Missense_Mutation	SNP	ENST00000344013.6	37	c.166G>A	CCDS12442.1	.	.	.	.	.	.	.	.	.	.	G	7.337	0.620212	0.14193	.	.	ENSG00000089356	ENST00000406242;ENST00000435734;ENST00000346446;ENST00000344013;ENST00000406988;ENST00000535103	T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29	4.97	2.77	0.32553	.	0.160135	0.41294	D	0.000906	T	0.24005	0.0581	N	0.02334	-0.595	0.20821	N	0.999848	B;B;B;B	0.33379	0.389;0.41;0.248;0.16	B;B;B;B	0.22386	0.039;0.036;0.024;0.027	T	0.23547	-1.0185	10	0.09084	T	0.74	-1.8921	11.7292	0.51726	0.0:0.6497:0.3503:0.0	.	113;56;56;56	F5H174;F8WB34;Q14802-2;Q14802	.;.;.;FXYD3_HUMAN	I	56;113;56;56;56;113	ENSP00000385412:V56I;ENSP00000328259:V56I;ENSP00000339499:V56I;ENSP00000385200:V56I;ENSP00000443953:V113I	ENSP00000339499:V56I	V	+	1	0	FXYD3	40305577	0.031000	0.19500	0.271000	0.24616	0.012000	0.07955	0.640000	0.24705	0.485000	0.27652	-0.153000	0.13522	GTC		0.637	FXYD3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000468985.1	0	NM_021910		19:35613737
SORBS1	10580	broad.mit.edu	37	10	97096368	97096368	+	Silent	SNP	G	G	A	rs370839434		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr10:97096368G>A	ENST00000361941.3	-	28	3575	c.3549C>T	c.(3547-3549)agC>agT	p.S1183S	SORBS1_ENST00000277982.5_Silent_p.S1042S|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000371246.2_Silent_p.S1042S|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371247.2_Silent_p.S1183S|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371227.4_Silent_p.S1137S|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371239.1_Intron	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CTGGAAAAGCGCTACCCAGGG	0.617																																						ENST00000371247.2		NA																	0				NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(3547-3549)agC>agT		sorbin and SH3 domain containing 1		G	,,,,,,	0,4406		0,0,2203	80.0	84.0	82.0		3549,3126,,,,,	5.6	1.0	10		82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,intron,intron,intron,intron,intron	SORBS1	NM_001034954.1,NM_001034955.1,NM_001034956.1,NM_001034957.1,NM_006434.2,NM_015385.2,NM_024991.1	,,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,	1183/1293,1042/1152,,,,,	97096368	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97096368G>A	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.3549C>T	10.37:g.97096368G>A		False	False		Somatic	0				SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000371246.2_Silent_p.S1042S|SORBS1_ENST00000371227.4_Silent_p.S1137S|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000277982.5_Silent_p.S1042S|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000361941.3_Silent_p.S1183S	p.S1183S			WXS	Illumina HiSeq	Phase_I	Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	30	3738	-		Colorectal(252;0.0429)	1183						Silent	SNP	ENST00000361941.3	37	c.3549C>T	CCDS31255.1																																																																																				0.617	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1	0			10:97096368
OR5H1	26341	broad.mit.edu	37	3	97852022	97852022	+	Nonsense_Mutation	SNP	G	G	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr3:97852022G>T	ENST00000354565.2	+	1	481	c.481G>T	c.(481-483)Gga>Tga	p.G161*	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						AATCCATGAAGGATTTTTATT	0.358																																						ENST00000354565.2		NA																	0				breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						c.(481-483)Gga>Tga		olfactory receptor, family 5, subfamily H, member 1							32.0	43.0	40.0					3																	97852022		2182	4276	6458	SO:0001587	stop_gained	26341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97852022G>T	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.481G>T	3.37:g.97852022G>T	ENSP00000346575:p.Gly161*	False	False		Somatic	0				RP11-343D2.11_ENST00000508964.1_RNA	p.G161*	NM_001005338.1	NP_001005338.1	WXS	Illumina HiSeq	Phase_I	A6NKK0	OR5H1_HUMAN			1	481	+			161						Nonsense_Mutation	SNP	ENST00000354565.2	37	c.481G>T	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	G	7.459	0.644345	0.14451	.	.	ENSG00000231192	ENST00000354565	.	.	.	3.57	2.68	0.31781	.	0.626401	0.13894	N	0.355411	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	8.4928	0.33110	0.121:0.0:0.879:0.0	.	.	.	.	X	161	.	ENSP00000346575:G161X	G	+	1	0	OR5H1	99334712	0.000000	0.05858	0.005000	0.12908	0.014000	0.08584	-0.384000	0.07389	0.683000	0.31428	0.195000	0.17529	GGA		0.358	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	0	NM_001005338		3:97852022
SYCP2L	221711	broad.mit.edu	37	6	10894138	10894138	+	Silent	SNP	A	A	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:10894138A>T	ENST00000283141.6	+	3	413	c.117A>T	c.(115-117)ggA>ggT	p.G39G	RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_5'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	39						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			ATGATAAAGGATTTCAGAAAA	0.299																																						ENST00000283141.6		NA																	0				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(115-117)ggA>ggT		synaptonemal complex protein 2-like							34.0	33.0	33.0					6																	10894138		1798	4060	5858	SO:0001819	synonymous_variant	221711					nucleus		g.chr6:10894138A>T	AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.117A>T	6.37:g.10894138A>T		True	False		Somatic	0				RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_5'UTR	p.G39G	NM_001040274.2	NP_001035364.2	WXS	Illumina HiSeq	Phase_I	Q5T4T6	SYC2L_HUMAN	Epithelial(50;0.239)		3	413	+	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	39					A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Silent	SNP	ENST00000283141.6	37	c.117A>T	CCDS43423.1																																																																																				0.299	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	0	NM_194299		6:10894138
NOX4	50507	broad.mit.edu	37	11	89088203	89088203	+	Nonsense_Mutation	SNP	G	G	A	rs374112961		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:89088203G>A	ENST00000263317.4	-	13	1382	c.1144C>T	c.(1144-1146)Cga>Tga	p.R382*	NOX4_ENST00000527956.1_Nonsense_Mutation_p.R358*|NOX4_ENST00000527626.1_Nonsense_Mutation_p.R216*|NOX4_ENST00000542487.1_Nonsense_Mutation_p.R358*|NOX4_ENST00000375979.3_Nonsense_Mutation_p.R75*|NOX4_ENST00000343727.5_Nonsense_Mutation_p.R358*|NOX4_ENST00000534731.1_Nonsense_Mutation_p.R382*|NOX4_ENST00000532825.1_Nonsense_Mutation_p.R358*|NOX4_ENST00000528341.1_Nonsense_Mutation_p.R357*|NOX4_ENST00000535633.1_Nonsense_Mutation_p.R358*|NOX4_ENST00000413594.2_Nonsense_Mutation_p.R403*|NOX4_ENST00000531342.1_Nonsense_Mutation_p.R75*|NOX4_ENST00000424319.1_Nonsense_Mutation_p.R358*|NOX4_ENST00000525196.1_Intron			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	382	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.|Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.R382*(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTAAATCTCGAAATCGTTCT	0.328																																						ENST00000535633.1		NA																	1	Substitution - Nonsense(1)	p.R382*(1)	lung(1)	NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44						c.(1072-1074)Cga>Tga		NADPH oxidase 4		G	stop/ARG,stop/ARG,stop/ARG	0,4402		0,0,2201	50.0	49.0	49.0		1144,1072,1144	5.3	1.0	11		49	1,8597	1.2+/-3.3	0,1,4298	no	stop-gained,stop-gained,stop-gained	NOX4	NM_001143836.1,NM_001143837.1,NM_016931.3	,,	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	,,	382/539,358/555,382/579	89088203	1,12999	2201	4299	6500	SO:0001587	stop_gained	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89088203G>A	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1144C>T	11.37:g.89088203G>A	ENSP00000263317:p.Arg382*	True	False		Somatic	0				NOX4_ENST00000532825.1_Nonsense_Mutation_p.R358*|NOX4_ENST00000542487.1_Nonsense_Mutation_p.R358*|NOX4_ENST00000527956.1_Nonsense_Mutation_p.R358*|NOX4_ENST00000424319.1_Nonsense_Mutation_p.R358*|NOX4_ENST00000534731.1_Nonsense_Mutation_p.R382*|NOX4_ENST00000528341.1_Nonsense_Mutation_p.R357*|NOX4_ENST00000343727.5_Nonsense_Mutation_p.R358*|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000413594.2_Nonsense_Mutation_p.R403*|NOX4_ENST00000531342.1_Nonsense_Mutation_p.R75*|NOX4_ENST00000263317.4_Nonsense_Mutation_p.R382*|NOX4_ENST00000375979.3_Nonsense_Mutation_p.R75*|NOX4_ENST00000527626.1_Nonsense_Mutation_p.R216*	p.R358*	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	WXS	Illumina HiSeq	Phase_I	Q9NPH5	NOX4_HUMAN			13	1382	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	382			FAD-binding FR-type.|Mediates interaction with TLR4.		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Nonsense_Mutation	SNP	ENST00000263317.4	37	c.1072C>T	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	G	32	5.124446	0.94429	0.0	1.16E-4	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594;ENST00000531342;ENST00000375979	.	.	.	5.31	5.31	0.75309	.	0.325791	0.27060	N	0.021133	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.9276	14.4891	0.67639	0.0:0.0:1.0:0.0	.	.	.	.	X	358;358;358;382;382;358;358;358;216;357;403;75;75	.	.	R	-	1	2	NOX4	88727851	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.228000	0.65310	2.479000	0.83701	0.563000	0.77884	CGA		0.328	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	0	NM_016931		11:89088203
DSC3	1825	broad.mit.edu	37	18	28610959	28610959	+	Silent	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr18:28610959G>A	ENST00000360428.4	-	3	414	c.334C>T	c.(334-336)Ctg>Ttg	p.L112L	DSC3_ENST00000434452.1_Silent_p.L112L	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	112					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TGTTCTAGCAGCACAGTAACC	0.338																																						ENST00000434452.1		NA																	0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(334-336)Ctg>Ttg		desmocollin 3							103.0	93.0	96.0					18																	28610959		2203	4300	6503	SO:0001819	synonymous_variant	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28610959G>A	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.334C>T	18.37:g.28610959G>A		False	False		Somatic	0				DSC3_ENST00000360428.4_Silent_p.L112L	p.L112L	NM_024423.2	NP_077741.2	WXS	Illumina HiSeq	Phase_I	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		3	488	-			112					A6NN35|Q14200|Q9HAZ9	Silent	SNP	ENST00000360428.4	37	c.334C>T	CCDS32810.1																																																																																				0.338	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	0	NM_001941, NM_024423		18:28610959
ZFYVE26	23503	broad.mit.edu	37	14	68238816	68238816	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr14:68238816G>A	ENST00000347230.4	-	28	5570	c.5432C>T	c.(5431-5433)cCg>cTg	p.P1811L	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.P1811L	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1811					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGTCTCATCCGGTACCCACTG	0.562																																						ENST00000347230.4		NA																	0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(5431-5433)cCg>cTg		zinc finger, FYVE domain containing 26							42.0	39.0	40.0					14																	68238816		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68238816G>A	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.5432C>T	14.37:g.68238816G>A	ENSP00000251119:p.Pro1811Leu	False	False		Somatic	0				ZFYVE26_ENST00000555452.1_Missense_Mutation_p.P1811L	p.P1811L	NM_015346.3	NP_056161.2	WXS	Illumina HiSeq	Phase_I	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	28	5570	-			1811					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.5432C>T	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269444	0.80469	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.49720	0.77;0.77	5.76	5.76	0.90799	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.77260	0.4104	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.81780	-0.0776	10	0.87932	D	0	-14.759	19.9574	0.97228	0.0:0.0:1.0:0.0	.	1811;1811	G3V2D8;Q68DK2	.;ZFY26_HUMAN	L	1811;1790;1811	ENSP00000251119:P1811L;ENSP00000450603:P1811L	ENSP00000251119:P1811L	P	-	2	0	ZFYVE26	67308569	1.000000	0.71417	0.432000	0.26747	0.625000	0.37756	7.804000	0.85993	2.715000	0.92844	0.561000	0.74099	CCG		0.562	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	0	NM_015346		14:68238816
PCDHB7	56129	broad.mit.edu	37	5	140553979	140553979	+	Silent	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr5:140553979C>T	ENST00000231137.3	+	1	1737	c.1563C>T	c.(1561-1563)taC>taT	p.Y521Y		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	521	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGGACTACGAGGCCCTGC	0.711																																						ENST00000231137.3		NA																	0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1561-1563)taC>taT									73.0	78.0	76.0					5																	140553979		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553979C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1563C>T	5.37:g.140553979C>T		False	False		Somatic	0					p.Y521Y	NM_018940.2	NP_061763.1	WXS	Illumina HiSeq	Phase_I	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1737	+			521			Cadherin 5.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1563C>T	CCDS4249.1																																																																																				0.711	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	0	NM_018940		5:140553979
SQLE	6713	broad.mit.edu	37	8	126030321	126030321	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr8:126030321G>A	ENST00000265896.5	+	8	2123	c.1225G>A	c.(1225-1227)Gca>Aca	p.A409T	SQLE_ENST00000523430.1_Missense_Mutation_p.A314T	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	409					cellular aromatic compound metabolic process (GO:0006725)|cholesterol biosynthetic process (GO:0006695)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|squalene monooxygenase activity (GO:0004506)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	TTTGGGAGACGCATATAATAT	0.353																																						ENST00000265896.5		NA																	0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14						c.(1225-1227)Gca>Aca		squalene epoxidase	Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)						109.0	103.0	105.0					8																	126030321		1828	4076	5904	SO:0001583	missense	6713				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity	g.chr8:126030321G>A	D78130	CCDS47918.1	8q24.1	2014-06-23			ENSG00000104549	ENSG00000104549	1.14.13.132		11279	protein-coding gene	gene with protein product	"""squalene monooxygenase"""	602019				9286711	Standard	NM_003129		Approved		uc011liq.2	Q14534	OTTHUMG00000164990	ENST00000265896.5:c.1225G>A	8.37:g.126030321G>A	ENSP00000265896:p.Ala409Thr	False	False		Somatic	0				SQLE_ENST00000523430.1_Missense_Mutation_p.A314T	p.A409T	NM_003129.3	NP_003120.2	WXS	Illumina HiSeq	Phase_I	Q14534	ERG1_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		8	2123	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		409					Q9UEK6	Missense_Mutation	SNP	ENST00000265896.5	37	c.1225G>A	CCDS47918.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039032	0.75617	.	.	ENSG00000104549	ENST00000523430;ENST00000265896;ENST00000541193;ENST00000518931	T;T;T	0.75050	-0.9;-0.9;-0.9	5.48	5.48	0.80851	Aromatic-ring hydroxylase-like (1);Squalene epoxidase (1);	0.000000	0.85682	D	0.000000	D	0.89639	0.6773	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91448	0.5179	10	0.72032	D	0.01	-14.8692	19.3542	0.94404	0.0:0.0:1.0:0.0	.	409	Q14534	ERG1_HUMAN	T	314;409;214;61	ENSP00000430331:A314T;ENSP00000265896:A409T;ENSP00000429916:A61T	ENSP00000265896:A409T	A	+	1	0	SQLE	126099503	1.000000	0.71417	0.950000	0.38849	0.012000	0.07955	9.609000	0.98334	2.575000	0.86900	0.655000	0.94253	GCA		0.353	SQLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381362.1	0	NM_003129		8:126030321
PPP1R16B	26051	broad.mit.edu	37	20	37547257	37547257	+	Missense_Mutation	SNP	C	C	G			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr20:37547257C>G	ENST00000299824.1	+	11	1841	c.1652C>G	c.(1651-1653)gCc>gGc	p.A551G	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.A509G	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	551					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				AAGTTCAAGGCCCCCATAGAG	0.572																																						ENST00000299824.1		NA																	0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49						c.(1651-1653)gCc>gGc		protein phosphatase 1, regulatory subunit 16B							54.0	52.0	53.0					20																	37547257		2203	4300	6503	SO:0001583	missense	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37547257C>G	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.1652C>G	20.37:g.37547257C>G	ENSP00000299824:p.Ala551Gly	True	False		Somatic	0				PPP1R16B_ENST00000373331.2_Missense_Mutation_p.A509G	p.A551G	NM_015568.2	NP_056383.1	WXS	Illumina HiSeq	Phase_I	Q96T49	PP16B_HUMAN			11	1841	+		Myeloproliferative disorder(115;0.00878)	551					A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	ENST00000299824.1	37	c.1652C>G	CCDS13309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.01|17.01	3.278924|3.278924	0.59758|0.59758	.|.	.|.	ENSG00000101445|ENSG00000101445	ENST00000299824;ENST00000373331|ENST00000438192	T;T|.	0.77229|.	-0.81;-1.08|.	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	0.188207|.	0.48767|.	D|.	0.000177|.	T|T	0.64438|0.64438	0.2598|0.2598	M|M	0.61703|0.61703	1.905|1.905	0.32685|0.32685	N|N	0.514994|0.514994	D;D|.	0.61080|.	0.989;0.98|.	P;P|.	0.57101|.	0.813;0.813|.	T|T	0.70619|0.70619	-0.4822|-0.4822	10|5	0.59425|.	D|.	0.04|.	.|.	17.2316|17.2316	0.86985|0.86985	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	509;551|.	E9PFS8;Q96T49|.	.;PP16B_HUMAN|.	G|A	551;509|452	ENSP00000299824:A551G;ENSP00000362428:A509G|.	ENSP00000299824:A551G|.	A|P	+|+	2|1	0|0	PPP1R16B|PPP1R16B	36980671|36980671	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.088000|5.088000	0.64486|0.64486	2.498000|2.498000	0.84270|0.84270	0.655000|0.655000	0.94253|0.94253	GCC|CCC		0.572	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	0	NM_015568		20:37547257
BCORL1	63035	broad.mit.edu	37	X	129190051	129190051	+	Silent	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chrX:129190051C>T	ENST00000218147.7	+	13	5273	c.5076C>T	c.(5074-5076)taC>taT	p.Y1692Y	BCORL1_ENST00000540052.1_Silent_p.Y1692Y|BCORL1_ENST00000359304.2_Silent_p.Y1562Y|BCORL1_ENST00000303743.5_Silent_p.Y1766Y			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1692					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TGGTGCGGTACGAGCCAGACC	0.607																																						ENST00000540052.1		NA																	0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(5074-5076)taC>taT		BCL6 corepressor-like 1							39.0	38.0	38.0					X																	129190051		2203	4300	6503	SO:0001819	synonymous_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129190051C>T	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.5076C>T	X.37:g.129190051C>T		False	False		Somatic	0				BCORL1_ENST00000218147.7_Silent_p.Y1692Y|BCORL1_ENST00000303743.5_Silent_p.Y1766Y|BCORL1_ENST00000359304.2_Silent_p.Y1562Y	p.Y1692Y	NM_021946.4	NP_068765.3	WXS	Illumina HiSeq	Phase_I	Q5H9F3	BCORL_HUMAN			12	5120	+			1692					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Silent	SNP	ENST00000218147.7	37	c.5076C>T	CCDS14616.1																																																																																				0.607	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	0	NM_021946		X:129190051
PCDH1	5097	broad.mit.edu	37	5	141248263	141248263	+	Silent	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr5:141248263G>A	ENST00000394536.3	-	2	913	c.774C>T	c.(772-774)ccC>ccT	p.P258P	PCDH1_ENST00000536585.1_Silent_p.P236P|PCDH1_ENST00000503492.1_Silent_p.P258P|PCDH1_ENST00000456271.1_Silent_p.P246P|PCDH1_ENST00000287008.3_Silent_p.P258P|PCDH1_ENST00000511044.1_5'Flank	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	258	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TGGCGCGTGGGGGGCTGCCGC	0.607																																					Ovarian(132;1609 1739 4190 14731 45037)	ENST00000287008.3		NA																	0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51						c.(772-774)ccC>ccT		protocadherin 1							62.0	56.0	58.0					5																	141248263		2203	4300	6503	SO:0001819	synonymous_variant	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141248263G>A	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.774C>T	5.37:g.141248263G>A		True	False		Somatic	0				PCDH1_ENST00000456271.1_Silent_p.P246P|PCDH1_ENST00000503492.1_Silent_p.P258P|PCDH1_ENST00000394536.3_Silent_p.P258P|PCDH1_ENST00000536585.1_Silent_p.P236P	p.P258P	NM_032420.2	NP_115796.2	WXS	Illumina HiSeq	Phase_I	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	2	921	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	258			Cadherin 2.		Q8IUP2	Silent	SNP	ENST00000394536.3	37	c.774C>T	CCDS43375.1																																																																																				0.607	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	0	NM_032420		5:141248263
OR52H1	390067	broad.mit.edu	37	11	5565922	5565922	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:5565922G>A	ENST00000322653.4	-	1	857	c.832C>T	c.(832-834)Cgc>Tgc	p.R278C	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	278						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(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGAAGGTGCGAGAGACATTG	0.483																																						ENST00000322653.4		NA																	0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						c.(832-834)Cgc>Tgc		olfactory receptor, family 52, subfamily H, member 1							213.0	197.0	203.0					11																	5565922		2201	4297	6498	SO:0001583	missense	390067				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5565922G>A	AB065802	CCDS31386.1	11p15.4	2012-08-09			ENSG00000181616	ENSG00000181616		"""GPCR / Class A : Olfactory receptors"""	15218	protein-coding gene	gene with protein product							Standard	NM_001005289		Approved		uc010qzh.2	Q8NGJ2	OTTHUMG00000066909	ENST00000322653.4:c.832C>T	11.37:g.5565922G>A	ENSP00000326259:p.Arg278Cys	True	False		Somatic	0				HBG2_ENST00000380259.2_Intron	p.R278C	NM_001005289.1	NP_001005289.1	WXS	Illumina HiSeq	Phase_I	Q8NGJ2	O52H1_HUMAN		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	857	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	278					B9EH26|Q6IF79	Missense_Mutation	SNP	ENST00000322653.4	37	c.832C>T	CCDS31386.1	.	.	.	.	.	.	.	.	.	.	g	11.32	1.604765	0.28623	.	.	ENSG00000181616	ENST00000322653	T	0.00158	8.65	5.22	4.31	0.51392	GPCR, rhodopsin-like superfamily (1);	0.697402	0.13692	N	0.369445	T	0.00241	0.0007	M	0.76938	2.355	0.09310	N	1	B	0.22800	0.075	B	0.24269	0.052	T	0.32534	-0.9903	10	0.49607	T	0.09	.	12.8057	0.57612	0.08:0.0:0.9199:0.0	.	278	Q8NGJ2	O52H1_HUMAN	C	278	ENSP00000326259:R278C	ENSP00000326259:R278C	R	-	1	0	OR52H1	5522498	0.000000	0.05858	0.177000	0.23020	0.738000	0.42128	0.114000	0.15520	1.209000	0.43321	-0.127000	0.14921	CGC		0.483	OR52H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143400.1	0	NM_001005289		11:5565922
CC2D2B	387707	broad.mit.edu	37	10	97791640	97791640	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr10:97791640C>T	ENST00000344386.3	+	9	1008	c.844C>T	c.(844-846)Caa>Taa	p.Q282*	ENTPD1-AS1_ENST00000454638.1_RNA|RP11-690P14.4_ENST00000475252.2_3'UTR|CC2D2B_ENST00000371198.2_3'UTR|ENTPD1-AS1_ENST00000449197.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|CC2D2B_ENST00000410012.2_Nonsense_Mutation_p.Q361*	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	282										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		TGCTGTTTATCAAACTGGAAT	0.393																																						ENST00000344386.3		NA																	0				large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10						c.(844-846)Caa>Taa		coiled-coil and C2 domain containing 2B							203.0	181.0	188.0					10																	97791640		1872	4119	5991	SO:0001587	stop_gained	387707							g.chr10:97791640C>T	BC075861	CCDS41555.1, CCDS53560.1	10q23.33	2008-11-06	2007-10-19	2007-10-19	ENSG00000188649	ENSG00000188649			31666	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 130"""	C10orf130			Standard	NM_001001732		Approved	bA248J23.4	uc010qop.2	Q6DHV5	OTTHUMG00000018820	ENST00000344386.3:c.844C>T	10.37:g.97791640C>T	ENSP00000343747:p.Gln282*	True	False		Somatic	0				ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000449197.1_RNA|CC2D2B_ENST00000410012.2_Nonsense_Mutation_p.Q361*|ENTPD1-AS1_ENST00000451364.1_RNA|CC2D2B_ENST00000371198.2_3'UTR|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|RP11-690P14.4_ENST00000475252.2_3'UTR	p.Q282*	NM_001001732.3	NP_001001732.2	WXS	Illumina HiSeq	Phase_I	Q6DHV5	C2D2B_HUMAN		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)	9	1008	+		Colorectal(252;0.158)	282					A2A3E9|B4DYD4|E9PCC3|Q5VUS0	Nonsense_Mutation	SNP	ENST00000344386.3	37	c.844C>T	CCDS41555.1	.	.	.	.	.	.	.	.	.	.	C	35	5.445563	0.96187	.	.	ENSG00000188649	ENST00000451649;ENST00000344386	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	14.2322	0.65901	0.1493:0.8507:0.0:0.0	.	.	.	.	X	361;282	.	ENSP00000343747:Q282X	Q	+	1	0	CC2D2B	97781630	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.245000	0.51407	2.873000	0.98535	0.563000	0.77884	CAA		0.393	CC2D2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049573.3	0	NM_001001732		10:97791640
PLD2	5338	broad.mit.edu	37	17	4712837	4712837	+	Missense_Mutation	SNP	G	G	A	rs368249657		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr17:4712837G>A	ENST00000263088.6	+	7	736	c.605G>A	c.(604-606)cGc>cAc	p.R202H	RP11-81A22.5_ENST00000571067.1_lincRNA|PLD2_ENST00000572940.1_Missense_Mutation_p.R202H	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	202					cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GACTTGGGCCGCAAAGGACTG	0.567																																						ENST00000263088.6		NA																	0				autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(604-606)cGc>cAc		phospholipase D2	Choline(DB00122)						56.0	59.0	58.0					17																	4712837		2203	4300	6503	SO:0001583	missense	5338				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr17:4712837G>A	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"""choline phosphatase 2"""	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.605G>A	17.37:g.4712837G>A	ENSP00000263088:p.Arg202His	False	False		Somatic	0				PLD2_ENST00000572940.1_Missense_Mutation_p.R202H	p.R202H	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	WXS	Illumina HiSeq	Phase_I	O14939	PLD2_HUMAN			7	736	+			202					I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Missense_Mutation	SNP	ENST00000263088.6	37	c.605G>A	CCDS11057.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.940910	0.34283	.	.	ENSG00000129219	ENST00000263088	T	0.06449	3.3	5.1	0.825	0.18824	.	0.567307	0.19886	N	0.103853	T	0.02610	0.0079	N	0.04508	-0.205	0.19775	N	0.99996	B;B;B	0.21225	0.053;0.041;0.01	B;B;B	0.12156	0.001;0.007;0.002	T	0.48151	-0.9060	10	0.15499	T	0.54	-1.3847	9.5998	0.39596	0.0:0.495:0.426:0.079	.	59;202;202	B7Z905;O14939-2;O14939	.;.;PLD2_HUMAN	H	202	ENSP00000263088:R202H	ENSP00000263088:R202H	R	+	2	0	PLD2	4659801	0.761000	0.28439	0.852000	0.33557	0.645000	0.38454	1.825000	0.39081	0.056000	0.16144	-0.311000	0.09066	CGC		0.567	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	0	NM_002663		17:4712837
CRB1	23418	broad.mit.edu	37	1	197411423	197411423	+	Splice_Site	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr1:197411423G>A	ENST00000367400.3	+	11	4140		c.e11+1		RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000544212.1_Splice_Site|CRB1_ENST00000538660.1_Splice_Site|CRB1_ENST00000367399.2_Splice_Site|CRB1_ENST00000367397.1_3'UTR|CRB1_ENST00000535699.1_Splice_Site	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated						cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CGAGGTGGACGTAAGCAGCCT	0.478																																						ENST00000367400.3		NA																	0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132	GRCh37	CS040833	CRB1	S		c.e11+1		crumbs homolog 1 (Drosophila)							198.0	182.0	187.0					1																	197411423		2203	4300	6503	SO:0001630	splice_region_variant	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197411423G>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.4005+1G>A	1.37:g.197411423G>A		False	False		Somatic	0				CRB1_ENST00000367399.2_Splice_Site|CRB1_ENST00000535699.1_Splice_Site|RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000544212.1_Splice_Site|CRB1_ENST00000538660.1_Splice_Site|CRB1_ENST00000367397.1_3'UTR		NM_201253.2	NP_957705.1	WXS	Illumina HiSeq	Phase_I	P82279	CRUM1_HUMAN			11	4140	+			NA					A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Splice_Site	SNP	ENST00000367400.3	37		CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650712	0.87958	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000448952	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6189	0.95647	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CRB1	195678046	1.000000	0.71417	0.978000	0.43139	0.971000	0.66376	7.916000	0.87491	2.629000	0.89072	0.591000	0.81541	.		0.478	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	0	NM_201253	Intron	1:197411423
IFT140	9742	broad.mit.edu	37	16	1612009	1612009	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr16:1612009G>A	ENST00000426508.2	-	18	2539	c.2176C>T	c.(2176-2178)Cct>Tct	p.P726S	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	726					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TAGTAATAAGGCACTTCCATC	0.557																																						ENST00000426508.2		NA																	0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.(2176-2178)Cct>Tct		intraflagellar transport 140 homolog (Chlamydomonas)							89.0	82.0	84.0					16																	1612009		2199	4300	6499	SO:0001583	missense	9742							g.chr16:1612009G>A	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.2176C>T	16.37:g.1612009G>A	ENSP00000406012:p.Pro726Ser	False	False		Somatic	0				IFT140_ENST00000439987.2_5'UTR	p.P726S	NM_014714.3	NP_055529.2	WXS	Illumina HiSeq	Phase_I	Q96RY7	IF140_HUMAN			18	2539	-		Hepatocellular(780;0.219)	726					A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.2176C>T	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702254	0.68501	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T	0.68025	-0.3	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.84288	0.5439	M	0.84433	2.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86852	0.2024	10	0.87932	D	0	.	18.9059	0.92460	0.0:0.0:1.0:0.0	.	726;451	Q96RY7;B4DR58	IF140_HUMAN;.	S	726	ENSP00000406012:P726S	ENSP00000380562:P726S	P	-	1	0	IFT140	1552010	1.000000	0.71417	0.797000	0.32132	0.084000	0.17831	9.225000	0.95219	2.535000	0.85469	0.563000	0.77884	CCT		0.557	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	0	NM_014714		16:1612009
NDUFV2	4729	broad.mit.edu	37	18	9122540	9122540	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr18:9122540G>A	ENST00000318388.6	+	5	444	c.330G>A	c.(328-330)atG>atA	p.M110I	RP11-21J18.1_ENST00000579126.1_RNA|RP11-143J12.2_ENST00000582375.1_RNA|RP11-143J12.2_ENST00000583081.1_RNA|NDUFV2_ENST00000465096.1_3'UTR|NDUFV2_ENST00000400033.1_Missense_Mutation_p.M113I	NM_021074.4	NP_066552.2	P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	110					cardiac muscle tissue development (GO:0048738)|cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|nervous system development (GO:0007399)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|lung(4)|ovary(1)|stomach(1)	7						TACCTCCAATGAGAGTATATG	0.328																																						ENST00000400033.1		NA																	0				breast(1)|lung(4)|ovary(1)|stomach(1)	7						c.(337-339)atG>atA		NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	NADH(DB00157)						99.0	96.0	97.0					18																	9122540		2203	4300	6503	SO:0001583	missense	4729				cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity	g.chr18:9122540G>A	X84421	CCDS11842.1	18p11.22	2011-07-04	2002-08-29		ENSG00000178127	ENSG00000178127	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7717	protein-coding gene	gene with protein product	"""complex I 24kDa subunit"", ""NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial"""	600532	"""NADH dehydrogenase (ubiquinone) flavoprotein 2 (24kD)"""			9763677, 7607668	Standard	NM_021074		Approved	CI-24k	uc002knu.3	P19404	OTTHUMG00000131593	ENST00000318388.6:c.330G>A	18.37:g.9122540G>A	ENSP00000327268:p.Met110Ile	False	False		Somatic	0				RP11-21J18.1_ENST00000579126.1_RNA|NDUFV2_ENST00000465096.1_3'UTR|RP11-143J12.2_ENST00000582375.1_RNA|RP11-143J12.2_ENST00000583081.1_RNA|NDUFV2_ENST00000318388.6_Missense_Mutation_p.M110I	p.M113I			WXS	Illumina HiSeq	Phase_I	P19404	NDUV2_HUMAN			6	456	+			110					Q9BV41	Missense_Mutation	SNP	ENST00000318388.6	37	c.339G>A	CCDS11842.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.714320	0.68730	.	.	ENSG00000178127	ENST00000318388;ENST00000400033	T;T	0.41400	1.0;1.0	5.93	5.93	0.95920	Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.37972	0.1023	N	0.13299	0.325	0.80722	D	1	B	0.23806	0.091	B	0.40329	0.326	T	0.16928	-1.0386	10	0.11182	T	0.66	-14.8923	20.3397	0.98756	0.0:0.0:1.0:0.0	.	110	P19404	NDUV2_HUMAN	I	110;113	ENSP00000327268:M110I;ENSP00000382908:M113I	ENSP00000327268:M110I	M	+	3	0	NDUFV2	9112540	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.623000	0.98386	2.803000	0.96430	0.585000	0.79938	ATG		0.328	NDUFV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254475.2	0	NM_021074		18:9122540
GFPT1	2673	broad.mit.edu	37	2	69556893	69556893	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr2:69556893G>A	ENST00000357308.4	-	16	1698	c.1520C>T	c.(1519-1521)gCc>gTc	p.A507V	GFPT1_ENST00000361060.5_Missense_Mutation_p.A489V	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	507	Isomerase.|SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|circadian regulation of gene expression (GO:0032922)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glucosamine biosynthetic process (GO:0006042)|glutamine metabolic process (GO:0006541)|negative regulation of glycogen biosynthetic process (GO:0045719)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|protein N-linked glycosylation via asparagine (GO:0018279)|response to sucrose (GO:0009744)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						CATCATAAGGGCAAACATCAC	0.408																																						ENST00000357308.4		NA																	0				endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						c.(1519-1521)gCc>gTc		glutamine--fructose-6-phosphate transaminase 1							137.0	118.0	125.0					2																	69556893		2203	4300	6503	SO:0001583	missense	2673				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr2:69556893G>A		CCDS33216.1, CCDS58713.1	2p13	2014-09-17	2010-05-11		ENSG00000198380	ENSG00000198380	2.6.1.16		4241	protein-coding gene	gene with protein product		138292	"""glutamine-fructose-6-phosphate transaminase 1"""	GFPT		1460020	Standard	NM_002056		Approved	GFAT, GFA, GFAT1	uc002sfi.2	Q06210	OTTHUMG00000152666	ENST00000357308.4:c.1520C>T	2.37:g.69556893G>A	ENSP00000349860:p.Ala507Val	True	False		Somatic	0				GFPT1_ENST00000361060.4_Missense_Mutation_p.A489V	p.A507V	NM_001244710.1	NP_001231639.1	WXS	Illumina HiSeq	Phase_I	Q06210	GFPT1_HUMAN			16	1698	-			507			SIS 1.		Q53QE6|Q9BXF8	Missense_Mutation	SNP	ENST00000357308.4	37	c.1520C>T	CCDS58713.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875075	0.91664	.	.	ENSG00000198380	ENST00000357308;ENST00000361060	T;T	0.62941	-0.01;-0.01	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.79673	0.4486	M	0.86268	2.805	0.80722	D	1	D	0.65815	0.995	P	0.59761	0.863	T	0.82959	-0.0198	10	0.87932	D	0	-11.8633	18.081	0.89441	0.0:0.0:1.0:0.0	.	489	Q06210-2	.	V	507;489	ENSP00000349860:A507V;ENSP00000354347:A489V	ENSP00000349860:A507V	A	-	2	0	GFPT1	69410397	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.388000	0.59633	2.758000	0.94735	0.563000	0.77884	GCC		0.408	GFPT1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		0			2:69556893
USH2A	7399	broad.mit.edu	37	1	216144042	216144042	+	Silent	SNP	G	G	A	rs147615382		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr1:216144042G>A	ENST00000307340.3	-	36	7268	c.6882C>T	c.(6880-6882)taC>taT	p.Y2294Y	USH2A_ENST00000366943.2_Silent_p.Y2294Y	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2294	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAGCAAATCCGTAAGCACGAT	0.418										HNSCC(13;0.011)																												ENST00000366943.2		NA																	0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(6880-6882)taC>taT		Usher syndrome 2A (autosomal recessive, mild)		G		2,4404	4.2+/-10.8	0,2,2201	112.0	106.0	108.0		6882	-1.1	0.2	1	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	USH2A	NM_206933.2		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		2294/5203	216144042	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216144042G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6882C>T	1.37:g.216144042G>A		False	False	HNSCC(13;0.011)	Somatic	0				USH2A_ENST00000307340.3_Silent_p.Y2294Y	p.Y2294Y			WXS	Illumina HiSeq	Phase_I	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	36	7268	-			2294			Fibronectin type-III 9.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.6882C>T	CCDS31025.1																																																																																				0.418	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	0	NM_007123		1:216144042
SUV39H2	79723	broad.mit.edu	37	10	14941644	14941644	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr10:14941644C>T	ENST00000354919.6	+	4	956	c.956C>T	c.(955-957)gCg>gTg	p.A319V	DCLRE1C_ENST00000378289.4_Intron|SUV39H2_ENST00000378325.3_Missense_Mutation_p.A139V|SUV39H2_ENST00000313519.5_Missense_Mutation_p.A259V	NM_001193424.1	NP_001180353.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	319	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell differentiation (GO:0030154)|chromatin assembly or disassembly (GO:0006333)|chromatin remodeling (GO:0006338)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|male meiosis (GO:0007140)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nuclear heterochromatin (GO:0005720)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						ACAGTGGATGCGGCTCGATAC	0.408																																						ENST00000313519.5		NA																	0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						c.(775-777)gCg>gTg		suppressor of variegation 3-9 homolog 2 (Drosophila)							176.0	152.0	160.0					10																	14941644		2203	4300	6503	SO:0001583	missense	79723				cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding	g.chr10:14941644C>T	AK027067	CCDS7104.1, CCDS53493.1, CCDS53494.1	10p13	2011-07-01			ENSG00000152455	ENSG00000152455		"""Chromatin-modifying enzymes / K-methyltransferases"""	17287	protein-coding gene	gene with protein product		606503				11094092	Standard	NM_001193424		Approved	FLJ23414, KMT1B	uc021png.1	Q9H5I1	OTTHUMG00000017718	ENST00000354919.6:c.956C>T	10.37:g.14941644C>T	ENSP00000346997:p.Ala319Val	False	False		Somatic	0				SUV39H2_ENST00000378325.3_Missense_Mutation_p.A139V|SUV39H2_ENST00000354919.6_Missense_Mutation_p.A319V|DCLRE1C_ENST00000378289.4_Intron	p.A259V	NM_001193425.1|NM_024670.3	NP_001180354.1|NP_078946.1	WXS	Illumina HiSeq	Phase_I	Q9H5I1	SUV92_HUMAN			3	1007	+			319			SET.		D3DRT4|Q5JSS4|Q5JSS5|Q6I9Y3|Q8ND06	Missense_Mutation	SNP	ENST00000354919.6	37	c.776C>T	CCDS53494.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.625237|5.625237	0.96671|0.96671	.|.	.|.	ENSG00000152455|ENSG00000152455	ENST00000433779;ENST00000378325;ENST00000354919;ENST00000313519|ENST00000358298	D;D;D;D|.	0.93763|.	-3.28;-1.8;-3.28;-3.28|.	5.62|5.62	5.62|5.62	0.85841|0.85841	SET domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.90985|0.90985	0.7165|0.7165	H|H	0.98314|0.98314	4.2|4.2	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.79108|.	0.992;0.945|.	D|D	0.93938|0.93938	0.7220|0.7220	10|5	0.87932|.	D|.	0|.	.|.	19.0078|19.0078	0.92859|0.92859	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	319;139|.	Q9H5I1;Q9H5I1-3|.	SUV92_HUMAN;.|.	V|W	79;139;319;259|85	ENSP00000388968:A79V;ENSP00000367576:A139V;ENSP00000346997:A319V;ENSP00000319208:A259V|.	ENSP00000319208:A259V|.	A|R	+|+	2|1	0|2	SUV39H2|SUV39H2	14981650|14981650	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	7.776000|7.776000	0.85560|0.85560	2.809000|2.809000	0.96659|0.96659	0.557000|0.557000	0.71058|0.71058	GCG|CGG		0.408	SUV39H2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046947.2	0	NM_024670		10:14941644
C6orf118	168090	broad.mit.edu	37	6	165715133	165715133	+	Silent	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:165715133G>A	ENST00000230301.8	-	2	698	c.678C>T	c.(676-678)ctC>ctT	p.L226L	C6orf118_ENST00000543069.1_Silent_p.L122L	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	226										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CTTGCTTGGCGAGCACTTCCT	0.622																																						ENST00000543069.1		NA																	0				breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(364-366)ctC>ctT		chromosome 6 open reading frame 118							75.0	74.0	74.0					6																	165715133		2203	4300	6503	SO:0001819	synonymous_variant	168090							g.chr6:165715133G>A		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.678C>T	6.37:g.165715133G>A		False	False		Somatic	0				C6orf118_ENST00000230301.8_Silent_p.L226L	p.L122L			WXS	Illumina HiSeq	Phase_I	Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	2	947	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	226					Q8TC11	Silent	SNP	ENST00000230301.8	37	c.366C>T	CCDS5288.1																																																																																				0.622	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	0	NM_144980		6:165715133
OR51G1	79324	broad.mit.edu	37	11	4945382	4945382	+	Missense_Mutation	SNP	T	T	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:4945382T>A	ENST00000321961.2	-	1	255	c.188A>T	c.(187-189)tAt>tTt	p.Y63F	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCCAAGAAATAGTACATGGG	0.483																																						ENST00000321961.2		NA																	0				NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25						c.(187-189)tAt>tTt		olfactory receptor, family 51, subfamily G, member 1							111.0	87.0	95.0					11																	4945382		2201	4298	6499	SO:0001583	missense	79324				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4945382T>A	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"""GPCR / Class A : Olfactory receptors"""	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.188A>T	11.37:g.4945382T>A	ENSP00000322546:p.Tyr63Phe	True	False		Somatic	0				MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.Y63F	NM_001005237.1	NP_001005237.1	WXS	Illumina HiSeq	Phase_I	Q8NGK1	O51G1_HUMAN		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	255	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	63					B9EGW8|Q6IFH6	Missense_Mutation	SNP	ENST00000321961.2	37	c.188A>T	CCDS31366.1	.	.	.	.	.	.	.	.	.	.	T	14.38	2.517143	0.44763	.	.	ENSG00000176879	ENST00000321961	T	0.01685	4.69	4.2	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35739	U	0.003015	T	0.01592	0.0051	N	0.25060	0.705	0.27676	N	0.946609	B	0.15719	0.014	B	0.15484	0.013	T	0.37934	-0.9684	10	0.66056	D	0.02	.	6.9793	0.24694	0.3172:0.0:0.0:0.6828	.	63	Q8NGK1	O51G1_HUMAN	F	63	ENSP00000322546:Y63F	ENSP00000322546:Y63F	Y	-	2	0	OR51G1	4901958	0.901000	0.30685	1.000000	0.80357	0.963000	0.63663	1.508000	0.35769	1.760000	0.52011	0.455000	0.32223	TAT		0.483	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	0	NM_001005237		11:4945382
B4GALNT3	283358	broad.mit.edu	37	12	653515	653515	+	Missense_Mutation	SNP	G	G	A	rs141528374		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:653515G>A	ENST00000266383.5	+	4	375	c.362G>A	c.(361-363)cGt>cAt	p.R121H	B4GALNT3_ENST00000544638.1_3'UTR	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	121					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TTCCGGGGCCGTGCCAACCTG	0.627																																						ENST00000266383.5		NA																	0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(361-363)cGt>cAt		beta-1,4-N-acetyl-galactosaminyl transferase 3		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	112.0	95.0	101.0		362	1.0	0.9	12	dbSNP_134	101	0,8600		0,0,4300	no	missense	B4GALNT3	NM_173593.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	121/999	653515	1,13005	2203	4300	6503	SO:0001583	missense	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:653515G>A	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.362G>A	12.37:g.653515G>A	ENSP00000266383:p.Arg121His	False	False		Somatic	0				B4GALNT3_ENST00000544638.1_3'UTR	p.R121H	NM_173593.3	NP_775864.3	WXS	Illumina HiSeq	Phase_I	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		4	375	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		121					Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	c.362G>A	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064962	0.36470	2.27E-4	0.0	ENSG00000139044	ENST00000266383;ENST00000322843	T;T	0.31510	3.51;1.49	4.73	1.01	0.19927	.	0.563844	0.18883	N	0.128522	T	0.13586	0.0329	N	0.08118	0	0.29262	N	0.871299	B;B	0.15719	0.014;0.004	B;B	0.08055	0.003;0.002	T	0.12941	-1.0528	10	0.39692	T	0.17	-3.8814	7.2086	0.25921	0.6513:0.0:0.3487:0.0	.	23;121	E9PHD9;Q6L9W6	.;B4GN3_HUMAN	H	121;23	ENSP00000266383:R121H;ENSP00000322953:R23H	ENSP00000266383:R121H	R	+	2	0	B4GALNT3	523776	0.004000	0.15560	0.863000	0.33907	0.836000	0.47400	0.174000	0.16743	0.138000	0.18790	0.491000	0.48974	CGT		0.627	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	0	NM_173593		12:653515
GDI1	2664	broad.mit.edu	37	X	153670920	153670920	+	Silent	SNP	C	C	T	rs76578139		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chrX:153670920C>T	ENST00000447750.2	+	11	1580	c.1245C>T	c.(1243-1245)aaC>aaT	p.N415N	FAM50A_ENST00000393600.3_5'Flank|GDI1_ENST00000465640.1_3'UTR	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	415					negative regulation of axonogenesis (GO:0050771)|negative regulation of protein targeting to membrane (GO:0090315)|protein transport (GO:0015031)|Rab protein signal transduction (GO:0032482)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|midbody (GO:0030496)|neuron projection (GO:0043005)|protein complex (GO:0043234)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Rab GDP-dissociation inhibitor activity (GO:0005093)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAACCTGCAACGACATCAAAG	0.522													C|||	1	0.000264901	0.0	0.0	3775	,	,		15357	0.001		0.0	False		,,,				2504	0.0					ENST00000447750.2		NA																	0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16						c.(1243-1245)aaC>aaT		GDP dissociation inhibitor 1							173.0	134.0	147.0					X																	153670920		2203	4300	6503	SO:0001819	synonymous_variant	2664				protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding	g.chrX:153670920C>T	X79353	CCDS35452.1	Xq28	2008-08-01			ENSG00000203879	ENSG00000203879			4226	protein-coding gene	gene with protein product	"""mental retardation, X-linked 41"", ""mental retardation, X-linked 48"", ""rab GDP-dissociation inhibitor, alpha"""	300104		MRX48, MRX41, GDIL		7543319, 7849400	Standard	NM_001493		Approved	RABGDIA, XAP-4, OPHN2, FLJ41411	uc004fli.4	P31150	OTTHUMG00000033293	ENST00000447750.2:c.1245C>T	X.37:g.153670920C>T		False	False		Somatic	0				GDI1_ENST00000465640.1_3'UTR	p.N415N	NM_001493.2	NP_001484.1	WXS	Illumina HiSeq	Phase_I	P31150	GDIA_HUMAN			11	1580	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		415					P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	Silent	SNP	ENST00000447750.2	37	c.1245C>T	CCDS35452.1																																																																																				0.522	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081649.2	0	NM_001493		X:153670920
OR51F2	119694	broad.mit.edu	37	11	4843156	4843156	+	Missense_Mutation	SNP	T	T	C			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:4843156T>C	ENST00000322110.5	+	1	606	c.541T>C	c.(541-543)Tcc>Ccc	p.S181P	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAAGAGGTTGTCCTTCTGCAG	0.448																																						ENST00000322110.5		NA																	0				breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33						c.(541-543)Tcc>Ccc		olfactory receptor, family 51, subfamily F, member 2							318.0	277.0	291.0					11																	4843156		2201	4298	6499	SO:0001583	missense	119694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4843156T>C	BK004281	CCDS31361.1	11p15.4	2012-08-09			ENSG00000176925	ENSG00000176925		"""GPCR / Class A : Olfactory receptors"""	15197	protein-coding gene	gene with protein product							Standard	NM_001004753		Approved		uc010qyn.2	Q8NH61	OTTHUMG00000066508	ENST00000322110.5:c.541T>C	11.37:g.4843156T>C	ENSP00000323952:p.Ser181Pro	False	False		Somatic	0				MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.S181P	NM_001004753.1	NP_001004753.1	WXS	Illumina HiSeq	Phase_I	Q8NH61	O51F2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	606	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	181					Q6IFI1	Missense_Mutation	SNP	ENST00000322110.5	37	c.541T>C	CCDS31361.1	.	.	.	.	.	.	.	.	.	.	T	2.880	-0.232112	0.05983	.	.	ENSG00000176925	ENST00000322110	T	0.00036	8.86	4.66	2.17	0.27698	GPCR, rhodopsin-like superfamily (1);	0.663319	0.12337	U	0.477833	T	0.00210	0.0006	L	0.35487	1.065	0.09310	N	1	D	0.69078	0.997	D	0.71656	0.974	T	0.32824	-0.9892	10	0.02654	T	1	.	5.3429	0.15994	0.4154:0.0:0.148:0.4366	.	181	Q8NH61	O51F2_HUMAN	P	181	ENSP00000323952:S181P	ENSP00000323952:S181P	S	+	1	0	OR51F2	4799732	0.000000	0.05858	0.977000	0.42913	0.614000	0.37383	-0.787000	0.04618	0.309000	0.22966	0.459000	0.35465	TCC		0.448	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142181.1	0	NM_001004753		11:4843156
KEAP1	9817	broad.mit.edu	37	19	10610147	10610147	+	Missense_Mutation	SNP	G	G	C			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:10610147G>C	ENST00000171111.5	-	2	1110	c.563C>G	c.(562-564)gCc>gGc	p.A188G	KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Missense_Mutation_p.A188G	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	188	BACK.				cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	AGCGAAGTTGGCGATGCCGAT	0.597																																						ENST00000171111.5		NA																	0				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92						c.(562-564)gCc>gGc		kelch-like ECH-associated protein 1							99.0	79.0	86.0					19																	10610147		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10610147G>C	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.563C>G	19.37:g.10610147G>C	ENSP00000171111:p.Ala188Gly	False	False		Somatic	0				KEAP1_ENST00000393623.2_Missense_Mutation_p.A188G|KEAP1_ENST00000588024.1_5'UTR	p.A188G	NM_203500.1	NP_987096.1	WXS	Illumina HiSeq	Phase_I	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		2	1110	-			188			BACK.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.563C>G	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980801	0.74474	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.69306	-0.39;-0.39	4.81	4.81	0.61882	BTB/Kelch-associated (2);	0.053770	0.64402	D	0.000001	T	0.76962	0.4061	L	0.53617	1.68	0.80722	D	1	D	0.67145	0.996	D	0.65573	0.936	T	0.79619	-0.1728	10	0.72032	D	0.01	.	15.3825	0.74669	0.0:0.0:1.0:0.0	.	188	Q14145	KEAP1_HUMAN	G	188	ENSP00000171111:A188G;ENSP00000377245:A188G	ENSP00000171111:A188G	A	-	2	0	KEAP1	10471147	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	4.017000	0.57167	2.232000	0.73038	0.561000	0.74099	GCC		0.597	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	0	NM_012289		19:10610147
PSG7	5676	broad.mit.edu	37	19	43433817	43433817	+	RNA	SNP	C	C	T	rs565094467		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:43433817C>T	ENST00000406070.2	-	0	582				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				TCACAGCCTCCGTGGCCTCCC	0.532													.|||	1	0.000199681	0.0008	0.0	5008	,	,		19165	0.0		0.0	False		,,,				2504	0.0					ENST00000406070.2		NA																	0					NA								pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)							196.0	195.0	196.0					19																	43433817		2201	4300	6501			5676				female pregnancy	extracellular region		g.chr19:43433817C>T			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43433817C>T		False	False		Somatic	0				PSG7_ENST00000446844.3_RNA		NM_002783.2	NP_002774.2	WXS	Illumina HiSeq	Phase_I	Q13046	PSG7_HUMAN			0	582	-		Prostate(69;0.00682)	NA					Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.532	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	0	NM_001206650		19:43433817
C1orf105	92346	broad.mit.edu	37	1	172437641	172437641	+	Silent	SNP	C	C	T	rs181855196	byFrequency	TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr1:172437641C>T	ENST00000367727.4	+	7	657	c.459C>T	c.(457-459)caC>caT	p.H153H	C1orf105_ENST00000367725.4_Silent_p.H143H|C1orf105_ENST00000367726.1_3'UTR	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	153										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						CTGTCTTCCACGGATTACTGA	0.478													C|||	3	0.000599042	0.0	0.0	5008	,	,		17415	0.002		0.0	False		,,,				2504	0.001					ENST00000367727.4		NA																	0				large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						c.(457-459)caC>caT		chromosome 1 open reading frame 105							161.0	171.0	168.0					1																	172437641		2203	4300	6503	SO:0001819	synonymous_variant	92346							g.chr1:172437641C>T	AL035295	CCDS1301.1, CCDS72983.1	1q24.3	2012-06-26			ENSG00000180999	ENSG00000180999			29591	protein-coding gene	gene with protein product						12477932	Standard	NM_139240		Approved		uc001gik.3	O95561	OTTHUMG00000034750	ENST00000367727.4:c.459C>T	1.37:g.172437641C>T		False	False		Somatic	0				C1orf105_ENST00000367725.4_Silent_p.H143H|C1orf105_ENST00000367726.1_3'UTR	p.H153H	NM_139240.3	NP_640333.3	WXS	Illumina HiSeq	Phase_I	O95561	CA105_HUMAN			7	657	+			153					Q8IY02	Silent	SNP	ENST00000367727.4	37	c.459C>T	CCDS1301.1																																																																																				0.478	C1orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084062.2	0	NM_139240		1:172437641
NRN1L	123904	broad.mit.edu	37	16	67920029	67920029	+	Missense_Mutation	SNP	G	G	A	rs373963412		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr16:67920029G>A	ENST00000339176.3	+	3	464	c.365G>A	c.(364-366)cGg>cAg	p.R122Q	CTC-479C5.10_ENST00000572067.1_lincRNA|NRN1L_ENST00000576147.1_Missense_Mutation_p.G49R	NM_198443.1	NP_940845.1	Q496H8	NRN1L_HUMAN	neuritin 1-like	122					nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		GTGCATGTTCGGGAGCGCGGC	0.667																																						ENST00000339176.3		NA																	0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)	7						c.(364-366)cGg>cAg		neuritin 1-like		G	GLN/ARG	0,4394		0,0,2197	33.0	33.0	33.0		365	-3.5	0.0	16		33	2,8598	2.2+/-6.3	0,2,4298	yes	missense	NRN1L	NM_198443.1	43	0,2,6495	AA,AG,GG		0.0233,0.0,0.0154	benign	122/166	67920029	2,12992	2197	4300	6497	SO:0001583	missense	123904					anchored to membrane|plasma membrane		g.chr16:67920029G>A	AY358782	CCDS10850.1	16q22.1	2008-02-05			ENSG00000188038	ENSG00000188038			29811	protein-coding gene	gene with protein product						12975309	Standard	NM_198443		Approved	UNQ2446, MRCC2446	uc002euu.3	Q496H8	OTTHUMG00000137541	ENST00000339176.3:c.365G>A	16.37:g.67920029G>A	ENSP00000342411:p.Arg122Gln	True	False		Somatic	0				CTC-479C5.10_ENST00000572067.1_RNA|NRN1L_ENST00000576147.1_Missense_Mutation_p.G49R	p.R122Q	NM_198443.1	NP_940845.1	WXS	Illumina HiSeq	Phase_I	Q496H8	NRN1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)	3	464	+		Ovarian(137;0.192)	122					Q6UWH7	Missense_Mutation	SNP	ENST00000339176.3	37	c.365G>A	CCDS10850.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.599853	0.28534	0.0	2.33E-4	ENSG00000188038	ENST00000339176	.	.	.	4.86	-3.54	0.04653	.	1.058750	0.07350	N	0.882262	T	0.10508	0.0257	N	0.01109	-1.01	0.09310	N	1	B	0.15719	0.014	B	0.06405	0.002	T	0.29822	-0.9999	9	0.19147	T	0.46	.	6.5616	0.22489	0.4412:0.2124:0.3464:0.0	.	122	Q496H8	NRN1L_HUMAN	Q	122	.	ENSP00000342411:R122Q	R	+	2	0	NRN1L	66477530	0.010000	0.17322	0.049000	0.19019	0.006000	0.05464	0.003000	0.13083	-0.579000	0.05952	-1.417000	0.01113	CGG		0.667	NRN1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268872.2	0	NM_198443		16:67920029
OR13C3	138803	broad.mit.edu	37	9	107298219	107298219	+	Silent	SNP	C	C	T	rs145221004	byFrequency	TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr9:107298219C>T	ENST00000374781.2	-	1	918	c.876G>A	c.(874-876)ccG>ccA	p.P292P		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	292						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						CTTGAGACTTCGGTTTCGCAT	0.438													c|||	8	0.00159744	0.0	0.0	5008	,	,		20758	0.0		0.0	False		,,,				2504	0.0082				GBM(86;1248 1274 14222 15028 46219)	ENST00000374781.2		NA																	0				endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						c.(874-876)ccG>ccA		olfactory receptor, family 13, subfamily C, member 3		C		0,4406		0,0,2203	142.0	134.0	137.0		876	-1.6	0.1	9	dbSNP_134	137	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR13C3	NM_001001961.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		292/348	107298219	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	138803				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107298219C>T		CCDS35089.1	9q31.1	2013-09-24			ENSG00000204246	ENSG00000204246		"""GPCR / Class A : Olfactory receptors"""	14704	protein-coding gene	gene with protein product							Standard	NM_001001961		Approved		uc004bcb.1	Q8NGS6	OTTHUMG00000020406	ENST00000374781.2:c.876G>A	9.37:g.107298219C>T		False	False		Somatic	0					p.P292P	NM_001001961.1	NP_001001961.1	WXS	Illumina HiSeq	Phase_I	Q8NGS6	O13C3_HUMAN			1	918	-			292					Q5VVG1|Q6IF52	Silent	SNP	ENST00000374781.2	37	c.876G>A	CCDS35089.1																																																																																				0.438	OR13C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053477.2	0			9:107298219
NUDT21	11051	broad.mit.edu	37	16	56468701	56468701	+	Missense_Mutation	SNP	T	T	C			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr16:56468701T>C	ENST00000300291.5	-	5	684	c.512A>G	c.(511-513)cAt>cGt	p.H171R		NM_007006.2	NP_008937.1	O43809	CPSF5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 21	171	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	AU-rich element binding (GO:0017091)|histone deacetylase binding (GO:0042826)|hydrolase activity (GO:0016787)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						CAACTTCTTATGTTCCTTAGG	0.303																																						ENST00000300291.5		NA																	0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						c.(511-513)cAt>cGt		nudix (nucleoside diphosphate linked moiety X)-type motif 21							106.0	111.0	109.0					16																	56468701		2197	4293	6490	SO:0001583	missense	11051				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity	g.chr16:56468701T>C	AJ001810	CCDS10760.1	16q12.2	2013-06-18	2005-07-11	2005-07-11	ENSG00000167005	ENSG00000167005		"""Nudix motif containing"""	13870	protein-coding gene	gene with protein product	"""cleavage factor Im complex 25 kDa subunit"""	604978	"""cleavage and polyadenylation specific factor 5, 25 kDa"", ""cleavage and polyadenylation specific factor 5, 25 kD subunit"""	CPSF5		9659921	Standard	NM_007006		Approved	CFIM25	uc002eja.3	O43809	OTTHUMG00000133240	ENST00000300291.5:c.512A>G	16.37:g.56468701T>C	ENSP00000300291:p.His171Arg	False	False		Somatic	0					p.H171R	NM_007006.2	NP_008937.1	WXS	Illumina HiSeq	Phase_I	O43809	CPSF5_HUMAN			5	684	-			171			Nudix hydrolase.		Q6IB85|Q6NE84	Missense_Mutation	SNP	ENST00000300291.5	37	c.512A>G	CCDS10760.1	.	.	.	.	.	.	.	.	.	.	T	14.53	2.563365	0.45694	.	.	ENSG00000167005	ENST00000300291	.	.	.	5.34	5.34	0.76211	NUDIX hydrolase domain (1);	0.000000	0.85682	D	0.000000	T	0.62974	0.2472	L	0.42581	1.335	0.80722	D	1	D	0.63046	0.992	P	0.57152	0.814	T	0.58578	-0.7612	9	0.23302	T	0.38	.	15.602	0.76631	0.0:0.0:0.0:1.0	.	171	O43809	CPSF5_HUMAN	R	171	.	ENSP00000300291:H171R	H	-	2	0	NUDT21	55026202	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.582000	0.82546	2.145000	0.66743	0.477000	0.44152	CAT		0.303	NUDT21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256980.3	0	NM_007006		16:56468701
HAUS5	23354	broad.mit.edu	37	19	36105981	36105981	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:36105981G>A	ENST00000203166.5	+	5	282	c.257G>A	c.(256-258)cGc>cAc	p.R86H	AC002115.9_ENST00000589603.1_lincRNA|HAUS5_ENST00000379045.2_Missense_Mutation_p.R86H	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	86					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						GCTGTGACCCGCCTGCGGGCA	0.607																																						ENST00000203166.5		NA																	0				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						c.(256-258)cGc>cAc		HAUS augmin-like complex, subunit 5							22.0	26.0	25.0					19																	36105981		1948	4145	6093	SO:0001583	missense	23354				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr19:36105981G>A	AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"""HAUS augmin-like complex subunits"""	29130	protein-coding gene	gene with protein product		613432	"""KIAA0841"""	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.257G>A	19.37:g.36105981G>A	ENSP00000439056:p.Arg86His	True	False		Somatic	0				HAUS5_ENST00000379045.2_Missense_Mutation_p.R86H	p.R86H	NM_015302.1	NP_056117.1	WXS	Illumina HiSeq	Phase_I	O94927	HAUS5_HUMAN			5	282	+			86					B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Missense_Mutation	SNP	ENST00000203166.5	37	c.257G>A	CCDS42550.1	.	.	.	.	.	.	.	.	.	.	G	8.109	0.778332	0.16120	.	.	ENSG00000249115	ENST00000203166;ENST00000379045	T;T	0.35421	1.31;1.31	4.94	0.373	0.16178	.	0.501507	0.20263	N	0.095838	T	0.32224	0.0822	M	0.67953	2.075	0.09310	N	1	B	0.18013	0.025	B	0.12837	0.008	T	0.28870	-1.0030	10	0.59425	D	0.04	-19.0807	7.3956	0.26934	0.3627:0.0:0.6373:0.0	.	86	O94927	HAUS5_HUMAN	H	86	ENSP00000439056:R86H;ENSP00000444373:R86H	ENSP00000439056:R86H	R	+	2	0	HAUS5	40797821	0.859000	0.29813	0.931000	0.37212	0.070000	0.16714	0.651000	0.24873	-0.066000	0.12998	-0.234000	0.12200	CGC		0.607	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459055.2	0			19:36105981
IRX2	153572	broad.mit.edu	37	5	2749835	2749835	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr5:2749835C>T	ENST00000382611.6	-	2	564	c.316G>A	c.(316-318)Gcg>Acg	p.A106T	C5orf38_ENST00000515640.1_5'Flank|C5orf38_ENST00000457752.2_5'Flank|C5orf38_ENST00000505778.1_5'Flank|IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Missense_Mutation_p.A106T|C5orf38_ENST00000334000.3_5'Flank|C5orf38_ENST00000397835.4_5'Flank	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	106					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		GGGTAGGCCGCGCTGCCGTAC	0.662																																						ENST00000382611.6		NA																	0				breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26						c.(316-318)Gcg>Acg		iroquois homeobox 2							75.0	69.0	71.0					5																	2749835		2203	4299	6502	SO:0001583	missense	153572					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:2749835C>T	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"""Homeoboxes / TALE class"""	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.316G>A	5.37:g.2749835C>T	ENSP00000372056:p.Ala106Thr	False	False		Somatic	0				IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Missense_Mutation_p.A106T	p.A106T	NM_001134222.1	NP_001127694.1	WXS	Illumina HiSeq	Phase_I	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)	2	564	-			106					Q68A19|Q7Z2I7	Missense_Mutation	SNP	ENST00000382611.6	37	c.316G>A	CCDS3868.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.467539	0.63625	.	.	ENSG00000170561	ENST00000382611;ENST00000302057;ENST00000502957	T;T;T	0.66280	-0.2;-0.2;-0.15	4.85	3.96	0.45880	Homeodomain-like (1);	0.108027	0.64402	D	0.000004	T	0.40448	0.1117	N	0.17474	0.49	0.42845	D	0.994069	B	0.32382	0.368	B	0.20184	0.028	T	0.35968	-0.9767	10	0.21540	T	0.41	-22.7679	13.2911	0.60272	0.0:0.7288:0.2712:0.0	.	106	Q9BZI1	IRX2_HUMAN	T	106;106;13	ENSP00000372056:A106T;ENSP00000307006:A106T;ENSP00000426151:A13T	ENSP00000307006:A106T	A	-	1	0	IRX2	2802835	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.500000	0.60387	2.239000	0.73571	0.655000	0.94253	GCG		0.662	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2	0			5:2749835
ANGPTL5	253935	broad.mit.edu	37	11	101773403	101773403	+	Silent	SNP	T	T	C			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:101773403T>C	ENST00000334289.3	-	6	1084	c.489A>G	c.(487-489)acA>acG	p.T163T		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	163	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		AACCACTCGGTGTTTTGGTGA	0.353																																						ENST00000334289.3		NA																	0				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29						c.(487-489)acA>acG		angiopoietin-like 5							122.0	127.0	125.0					11																	101773403		2203	4299	6502	SO:0001819	synonymous_variant	253935				signal transduction	extracellular space	receptor binding	g.chr11:101773403T>C	BC049170	CCDS8312.1	11q22.2	2013-02-06				ENSG00000187151		"""Fibrinogen C domain containing"""	19705	protein-coding gene	gene with protein product		607666				12624729	Standard	NM_178127		Approved		uc001pgl.3	Q86XS5		ENST00000334289.3:c.489A>G	11.37:g.101773403T>C		False	False		Somatic	0					p.T163T	NM_178127.4	NP_835228.2	WXS	Illumina HiSeq	Phase_I	Q86XS5	ANGL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0328)	6	1084	-		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)	163			Fibrinogen C-terminal.		A8K658|Q86VR9	Silent	SNP	ENST00000334289.3	37	c.489A>G	CCDS8312.1																																																																																				0.353	ANGPTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394138.1	0	NM_178127		11:101773403
HIST1H2BK	85236	broad.mit.edu	37	6	27114499	27114499	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:27114499C>T	ENST00000356950.1	-	1	78	c.79G>A	c.(79-81)Ggc>Agc	p.G27S	HIST1H2BK_ENST00000396891.4_Missense_Mutation_p.G27S|HIST1H2AH_ENST00000377459.1_5'Flank|MIR3143_ENST00000584253.1_RNA			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	27					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CGCTTCTTGCCGTCCTTCTTC	0.597																																						ENST00000396891.4		NA																	0				breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(79-81)Ggc>Agc		histone cluster 1, H2bk							179.0	145.0	157.0					6																	27114499		2203	4300	6503	SO:0001583	missense	85236				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27114499C>T	AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"""Histones / Replication-dependent"""	13954	protein-coding gene	gene with protein product		615045	"""H2B histone family, member T"", ""histone 1, H2bk"""	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.79G>A	6.37:g.27114499C>T	ENSP00000349430:p.Gly27Ser	False	False		Somatic	0				HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.G27S	p.G27S	NM_080593.2	NP_542160.1	WXS	Illumina HiSeq	Phase_I	O60814	H2B1K_HUMAN			1	120	-			27					A8K7P7|Q2VPI7	Missense_Mutation	SNP	ENST00000356950.1	37	c.79G>A	CCDS4621.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.487925	0.64074	.	.	ENSG00000197903	ENST00000396891;ENST00000356950	T;T	0.22539	1.95;1.95	3.82	3.82	0.43975	Histone-fold (2);	.	.	.	.	T	0.09379	0.0231	L	0.46947	1.48	0.44946	D	0.997962	B	0.30146	0.27	B	0.08055	0.003	T	0.06356	-1.0831	9	0.46703	T	0.11	.	14.0417	0.64678	0.0:1.0:0.0:0.0	.	27	O60814	H2B1K_HUMAN	S	27	ENSP00000380100:G27S;ENSP00000349430:G27S	ENSP00000349430:G27S	G	-	1	0	HIST1H2BK	27222478	1.000000	0.71417	1.000000	0.80357	0.313000	0.28021	5.099000	0.64554	2.080000	0.62538	0.650000	0.86243	GGC		0.597	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040141.1	0	NM_080593		6:27114499
FMN2	56776	broad.mit.edu	37	1	240256586	240256586	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr1:240256586G>A	ENST00000319653.9	+	1	1407	c.1177G>A	c.(1177-1179)Gcg>Acg	p.A393T		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	393					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.A536T(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TGACGCCCCCGCGGCCGCTTC	0.726																																						ENST00000319653.9		NA																	1	Substitution - Missense(1)	p.A536T(1)	endometrium(1)	NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(1177-1179)Gcg>Acg		formin 2							17.0	23.0	21.0					1																	240256586		2191	4287	6478	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240256586G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1177G>A	1.37:g.240256586G>A	ENSP00000318884:p.Ala393Thr	True	False		Somatic	0					p.A393T	NM_020066.4	NP_064450.3	WXS	Illumina HiSeq	Phase_I	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	1407	+	Ovarian(103;0.127)	all_cancers(173;0.013)	393					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.1177G>A	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	3.560	-0.089766	0.07053	.	.	ENSG00000155816	ENST00000319653	T	0.28255	1.62	4.15	-0.182	0.13287	.	0.885835	0.09526	N	0.790278	T	0.15435	0.0372	N	0.12182	0.205	0.09310	N	0.999999	B	0.12630	0.006	B	0.06405	0.002	T	0.24476	-1.0159	10	0.46703	T	0.11	.	5.4466	0.16539	0.2993:0.1625:0.5382:0.0	.	393	Q9NZ56	FMN2_HUMAN	T	393	ENSP00000318884:A393T	ENSP00000318884:A393T	A	+	1	0	FMN2	238323209	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	-0.165000	0.09968	0.085000	0.17107	-0.379000	0.06801	GCG		0.726	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	0	XM_371352		1:240256586
IGLV5-37	28783	broad.mit.edu	37	22	22782329	22782329	+	RNA	SNP	T	T	C			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr22:22782329T>C	ENST00000390300.2	+	0	332									immunoglobulin lambda variable 5-37																		AGTCTGAGGATGAGGCTGACT	0.502																																						ENST00000390300.2		NA																	0					NA															134.0	127.0	129.0					22																	22782329		1894	4138	6032			0							g.chr22:22782329T>C	Z73672		22q11.2	2012-02-08			ENSG00000211654	ENSG00000211654		"""Immunoglobulins / IGL locus"""	5922	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151069		22.37:g.22782329T>C		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	332	+			NA						RNA	SNP	ENST00000390300.2	37																																																																																						0.502	IGLV5-37-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321173.1	0	NG_000002		22:22782329
ZNF831	128611	broad.mit.edu	37	20	57769643	57769643	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr20:57769643G>A	ENST00000371030.2	+	1	3569	c.3569G>A	c.(3568-3570)cGc>cAc	p.R1190H		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1190							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)					TGCCTGAGCCGCAGTGTCCCT	0.647																																						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.(3568-3570)cGc>cAc		zinc finger protein 831							37.0	43.0	41.0					20																	57769643		2073	4204	6277	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57769643G>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.3569G>A	20.37:g.57769643G>A	ENSP00000360069:p.Arg1190His	False	False		Somatic	0					p.R1190H	NM_178457.1	NP_848552.1	WXS	Illumina HiSeq	Phase_I	Q5JPB2	ZN831_HUMAN			1	3569	+	all_lung(29;0.0085)		1190					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.3569G>A	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.708768	0.68615	.	.	ENSG00000124203	ENST00000371030	T	0.08896	3.04	5.05	5.05	0.67936	.	0.227351	0.29355	N	0.012399	T	0.21921	0.0528	L	0.52573	1.65	0.31710	N	0.639596	D	0.89917	1.0	D	0.71656	0.974	T	0.03112	-1.1071	10	0.87932	D	0	-16.6053	12.8728	0.57975	0.0814:0.0:0.9186:0.0	.	1190	Q5JPB2	ZN831_HUMAN	H	1190	ENSP00000360069:R1190H	ENSP00000360069:R1190H	R	+	2	0	ZNF831	57203038	0.988000	0.35896	1.000000	0.80357	0.678000	0.39670	3.840000	0.55843	2.352000	0.79861	0.609000	0.83330	CGC		0.647	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	0	NM_178457		20:57769643
RNF31	55072	broad.mit.edu	37	14	24624885	24624885	+	Missense_Mutation	SNP	T	T	C			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr14:24624885T>C	ENST00000324103.6	+	14	2797	c.2477T>C	c.(2476-2478)gTg>gCg	p.V826A	RNF31_ENST00000559275.1_Missense_Mutation_p.V675A|RNA5SP383_ENST00000362934.1_RNA|RP11-468E2.4_ENST00000558468.1_Missense_Mutation_p.V301A|RNF31_ENST00000382687.3_Missense_Mutation_p.V675A	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	826					CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		ACCTTCTGTGTGCGCTGCAAG	0.507																																						ENST00000558468.1		NA																	0					NA						c.(901-903)gTg>gCg									106.0	105.0	105.0					14																	24624885		1993	4179	6172	SO:0001583	missense	0							g.chr14:24624885T>C	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.2477T>C	14.37:g.24624885T>C	ENSP00000315112:p.Val826Ala	True	False		Somatic	0				RNF31_ENST00000559275.1_Missense_Mutation_p.V675A|RNF31_ENST00000324103.6_Missense_Mutation_p.V826A|RNF31_ENST00000382687.3_Missense_Mutation_p.V675A	p.V301A			WXS	Illumina HiSeq	Phase_I					6	902	+			NA					A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	37	c.902T>C	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	T	10.45	1.352802	0.24512	.	.	ENSG00000092098	ENST00000382682;ENST00000324103;ENST00000382687	T;T	0.63096	-0.02;-0.02	5.2	5.2	0.72013	Zinc finger, C6HC-type (2);	0.069879	0.56097	D	0.000022	T	0.35537	0.0935	N	0.00152	-1.975	0.35483	D	0.798341	B;D;D	0.56746	0.081;0.977;0.971	B;P;P	0.58820	0.042;0.846;0.761	T	0.55010	-0.8207	10	0.16420	T	0.52	-16.726	10.3507	0.43934	0.0:0.0:0.1647:0.8353	.	585;826;675	B3KV71;Q96EP0;Q96EP0-3	.;RNF31_HUMAN;.	A	268;826;675	ENSP00000315112:V826A;ENSP00000372134:V675A	ENSP00000315112:V826A	V	+	2	0	RNF31	23694725	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.469000	0.53093	2.185000	0.69588	0.460000	0.39030	GTG		0.507	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	0	NM_017999		14:24624885
WNT6	7475	broad.mit.edu	37	2	219735855	219735855	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr2:219735855G>A	ENST00000233948.3	+	2	404	c.187G>A	c.(187-189)Gca>Aca	p.A63T	WNT6_ENST00000486233.1_Intron	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	63					axis specification (GO:0009798)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|epithelial-mesenchymal cell signaling (GO:0060684)|nephron tubule formation (GO:0072079)|neuron differentiation (GO:0030182)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of gene expression (GO:0010628)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription, DNA-templated (GO:0045893)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAAGTGGTGGCAGAGCTAGC	0.682																																						ENST00000233948.3		NA																	0				large_intestine(1)|ovary(2)|skin(1)	4						c.(187-189)Gca>Aca		wingless-type MMTV integration site family, member 6							48.0	61.0	56.0					2																	219735855		2203	4298	6501	SO:0001583	missense	7475				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr2:219735855G>A	AF079522	CCDS2425.1	2q35	2008-05-23			ENSG00000115596	ENSG00000115596		"""Wingless-type MMTV integration sites"""	12785	protein-coding gene	gene with protein product		604663				10343101, 11350055	Standard	NM_006522		Approved		uc002vjc.1	Q9Y6F9	OTTHUMG00000133082	ENST00000233948.3:c.187G>A	2.37:g.219735855G>A	ENSP00000233948:p.Ala63Thr	False	False		Somatic	0				WNT6_ENST00000486233.1_Intron	p.A63T	NM_006522.3	NP_006513.1	WXS	Illumina HiSeq	Phase_I	Q9Y6F9	WNT6_HUMAN		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	404	+		Renal(207;0.0474)	63					Q9H1J6|Q9H238	Missense_Mutation	SNP	ENST00000233948.3	37	c.187G>A	CCDS2425.1	.	.	.	.	.	.	.	.	.	.	g	12.69	2.013700	0.35511	.	.	ENSG00000115596	ENST00000233948	T	0.76448	-1.02	5.17	5.17	0.71159	.	0.451424	0.24781	N	0.035645	T	0.63581	0.2523	L	0.31926	0.97	0.24988	N	0.991557	B	0.16396	0.017	B	0.19391	0.025	T	0.46386	-0.9195	10	0.14252	T	0.57	.	7.7483	0.28881	0.0881:0.1792:0.7326:0.0	.	63	Q9Y6F9	WNT6_HUMAN	T	63	ENSP00000233948:A63T	ENSP00000233948:A63T	A	+	1	0	WNT6	219444099	0.948000	0.32251	0.996000	0.52242	0.887000	0.51463	1.737000	0.38197	2.407000	0.81776	0.586000	0.80456	GCA		0.682	WNT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256727.2	0	NM_006522		2:219735855
RBM24	221662	broad.mit.edu	37	6	17283114	17283114	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:17283114G>A	ENST00000379052.5	+	2	483	c.247G>A	c.(247-249)Gtg>Atg	p.V83M	RBM24_ENST00000425446.2_Missense_Mutation_p.V25M|RBM24_ENST00000318204.5_Missense_Mutation_p.V38M	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	83	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|regulation of mRNA stability (GO:0043488)|regulation of myotube differentiation (GO:0010830)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			AAAGGCCAACGTGAACCTGGC	0.537																																						ENST00000379052.5		NA																	0				endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13						c.(247-249)Gtg>Atg		RNA binding motif protein 24							125.0	95.0	105.0					6																	17283114		2203	4300	6503	SO:0001583	missense	221662				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding	g.chr6:17283114G>A	BC040928	CCDS4538.1, CCDS47378.1, CCDS47379.1	6p22.3	2013-02-12	2004-04-23	2004-04-23	ENSG00000112183	ENSG00000112183		"""RNA binding motif (RRM) containing"""	21539	protein-coding gene	gene with protein product			"""RNA-binding region (RNP1, RRM) containing 6"""	RNPC6			Standard	NM_153020		Approved	FLJ30829, dJ259A10.1	uc003nbz.4	Q9BX46	OTTHUMG00000014306	ENST00000379052.5:c.247G>A	6.37:g.17283114G>A	ENSP00000368341:p.Val83Met	False	False		Somatic	0				RBM24_ENST00000425446.2_Missense_Mutation_p.V25M|RBM24_ENST00000318204.5_Missense_Mutation_p.V38M	p.V83M	NM_001143942.1	NP_001137414.1	WXS	Illumina HiSeq	Phase_I	Q9BX46	RBM24_HUMAN	all cancers(50;0.131)|Epithelial(50;0.15)		2	483	+	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	83			RRM.		E9PAY4|Q6QDA4|Q8N9D3|Q96NI3	Missense_Mutation	SNP	ENST00000379052.5	37	c.247G>A	CCDS47378.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889107	0.91814	.	.	ENSG00000112183	ENST00000379052;ENST00000509686;ENST00000425446;ENST00000318204	T;D;T;T	0.84298	2.72;-1.83;1.47;2.72	4.8	4.8	0.61643	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.135582	0.48767	D	0.000169	D	0.93936	0.8059	H	0.95437	3.67	0.80722	D	1	D;P;P	0.65815	0.995;0.652;0.652	D;P;P	0.66084	0.941;0.459;0.459	D	0.95757	0.8797	10	0.87932	D	0	-12.3307	17.9074	0.88923	0.0:0.0:1.0:0.0	.	38;83;83	Q9BX46-2;Q9BX46;A8KAI7	.;RBM24_HUMAN;.	M	83;42;25;38	ENSP00000368341:V83M;ENSP00000426222:V42M;ENSP00000396898:V25M;ENSP00000319551:V38M	ENSP00000319551:V38M	V	+	1	0	RBM24	17391093	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.547000	0.98100	2.222000	0.72286	0.650000	0.86243	GTG		0.537	RBM24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039946.2	0	NM_153020		6:17283114
ACRC	93953	broad.mit.edu	37	X	70823926	70823926	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chrX:70823926G>A	ENST00000373695.1	+	7	1336	c.799G>A	c.(799-801)Gac>Aac	p.D267N	ACRC_ENST00000373696.3_Missense_Mutation_p.D267N			Q96QF7	ACRC_HUMAN	acidic repeat containing	267	Asp/Ser-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					AGCTCCCGACGACAGCAGTGA	0.557																																						ENST00000373695.1		NA																	0				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(799-801)Gac>Aac		acidic repeat containing							33.0	36.0	35.0					X																	70823926		2152	4171	6323	SO:0001583	missense	93953					nucleus		g.chrX:70823926G>A	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.799G>A	X.37:g.70823926G>A	ENSP00000362799:p.Asp267Asn	False	False		Somatic	0				ACRC_ENST00000373696.3_Missense_Mutation_p.D267N	p.D267N			WXS	Illumina HiSeq	Phase_I	Q96QF7	ACRC_HUMAN			7	1336	+	Renal(35;0.156)		267			Asp/Ser-rich.		B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.799G>A	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	G	8.926	0.962358	0.18583	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.31769	1.48;1.48	0.14	0.14	0.14804	.	.	.	.	.	T	0.11707	0.0285	N	0.19112	0.55	0.09310	N	1	D	0.52996	0.957	B	0.29077	0.098	T	0.22977	-1.0201	9	0.66056	D	0.02	.	2.9227	0.05774	2.0E-4:2.0E-4:0.5081:0.4915	.	267	Q96QF7	ACRC_HUMAN	N	267	ENSP00000362800:D267N;ENSP00000362799:D267N	ENSP00000362799:D267N	D	+	1	0	ACRC	70740651	0.000000	0.05858	0.017000	0.16124	0.017000	0.09413	0.002000	0.13061	0.168000	0.19655	0.169000	0.16792	GAC		0.557	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1	0			X:70823926
NAP1L2	4674	broad.mit.edu	37	X	72434324	72434324	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chrX:72434324G>A	ENST00000373517.3	-	1	360	c.5C>T	c.(4-6)gCc>gTc	p.A2V	NAP1L2_ENST00000536638.1_Intron	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	2					nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCTGACTCGGCCATTTTTCA	0.532																																						ENST00000373517.3		NA																	0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29						c.(4-6)gCc>gTc		nucleosome assembly protein 1-like 2							46.0	53.0	51.0					X																	72434324		2139	4033	6172	SO:0001583	missense	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72434324G>A	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.5C>T	X.37:g.72434324G>A	ENSP00000362616:p.Ala2Val	False	False		Somatic	0				NAP1L2_ENST00000536638.1_Intron	p.A2V	NM_021963.3	NP_068798.1	WXS	Illumina HiSeq	Phase_I	Q9ULW6	NP1L2_HUMAN			1	360	-	Renal(35;0.156)		2					B2RE61|B4E161|Q8TAN6	Missense_Mutation	SNP	ENST00000373517.3	37	c.5C>T	CCDS14423.1	.	.	.	.	.	.	.	.	.	.	g	16.18	3.049801	0.55218	.	.	ENSG00000186462	ENST00000373517	T	0.37584	1.19	3.03	2.16	0.27623	.	0.517494	0.18149	U	0.150154	T	0.20740	0.0499	N	0.19112	0.55	0.80722	D	1	B	0.19445	0.036	B	0.12837	0.008	T	0.06881	-1.0802	10	0.87932	D	0	-3.1541	5.4474	0.16544	0.1624:0.0:0.8376:0.0	.	2	Q9ULW6	NP1L2_HUMAN	V	2	ENSP00000362616:A2V	ENSP00000362616:A2V	A	-	2	0	NAP1L2	72351049	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	2.935000	0.48963	0.660000	0.30964	-0.208000	0.12717	GCC		0.532	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	0	NM_021963		X:72434324
KRT1	3848	broad.mit.edu	37	12	53069133	53069133	+	Silent	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:53069133G>A	ENST00000252244.3	-	9	1837	c.1779C>T	c.(1777-1779)ggC>ggT	p.G593G		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	593	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)	p.G593G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						cgccgccgccgcctccagagc	0.721																																						ENST00000252244.3		NA																	1	Substitution - coding silent(1)	p.G593G(1)	prostate(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						c.(1777-1779)ggC>ggT		keratin 1																																				SO:0001819	synonymous_variant	3848				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	g.chr12:53069133G>A	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1779C>T	12.37:g.53069133G>A		True	False		Somatic	0					p.G593G	NM_006121.3	NP_006112.3	WXS	Illumina HiSeq	Phase_I	P04264	K2C1_HUMAN			9	1837	-			593			Gly/Ser-rich.|Tail.		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Silent	SNP	ENST00000252244.3	37	c.1779C>T	CCDS8836.1																																																																																				0.721	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	0	NM_006121		12:53069133
BCL6	604	broad.mit.edu	37	3	187447652	187447652	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr3:187447652C>T	ENST00000406870.2	-	5	907	c.541G>A	c.(541-543)Gcc>Acc	p.A181T	BCL6_ENST00000450123.2_Missense_Mutation_p.A181T|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.A181T|RP11-211G3.3_ENST00000437407.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	181					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		AGGCTGGGGGCAAAGGCTCTG	0.602			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																	ENST00000406870.2		NA		Dom	yes		3	3q27	604	"""T, Mis"""	B-cell CLL/lymphoma 6			L	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""		"""NHL, CLL"""		0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40						c.(541-543)Gcc>Acc		B-cell CLL/lymphoma 6							68.0	67.0	67.0					3																	187447652		2203	4300	6503	SO:0001583	missense	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187447652C>T		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.541G>A	3.37:g.187447652C>T	ENSP00000384371:p.Ala181Thr	True	False		Somatic	0				BCL6_ENST00000450123.2_Missense_Mutation_p.A181T|RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.A181T	p.A181T	NM_001706.4	NP_001697.2	WXS	Illumina HiSeq	Phase_I	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	5	907	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		181					A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	c.541G>A	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.268534	0.59540	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.08546	3.08;3.08;3.08	5.47	5.47	0.80525	.	0.252544	0.46442	D	0.000284	T	0.08492	0.0211	L	0.36672	1.1	0.39564	D	0.969175	P;P	0.38922	0.596;0.651	B;B	0.35353	0.201;0.15	T	0.09952	-1.0651	10	0.56958	D	0.05	.	14.385	0.66938	0.0:0.8524:0.1476:0.0	.	181;181	B8PSA7;P41182	.;BCL6_HUMAN	T	181	ENSP00000384371:A181T;ENSP00000232014:A181T;ENSP00000413122:A181T	ENSP00000232014:A181T	A	-	1	0	BCL6	188930346	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	2.270000	0.43355	2.764000	0.94973	0.556000	0.70494	GCC		0.602	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	0	NM_138931		3:187447652
FAM133A	286499	broad.mit.edu	37	X	92964906	92964906	+	Nonsense_Mutation	SNP	C	C	G			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chrX:92964906C>G	ENST00000355813.5	+	4	1014	c.488C>G	c.(487-489)tCa>tGa	p.S163*	FAM133A_ENST00000332647.4_Nonsense_Mutation_p.S163*|FAM133A_ENST00000322139.4_Nonsense_Mutation_p.S163*|FAM133A_ENST00000538690.1_Nonsense_Mutation_p.S163*	NM_001171109.1|NM_173698.2	NP_001164580.1|NP_775969.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	163	Lys-rich.|Ser-rich.									breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						AAAAAGAAGTCAAAGGATGAA	0.363																																						ENST00000538690.1		NA																	0				breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						c.(487-489)tCa>tGa		family with sequence similarity 133, member A							25.0	22.0	23.0					X																	92964906		2200	4294	6494	SO:0001587	stop_gained	286499							g.chrX:92964906C>G	AK094978	CCDS14466.1	Xq21.32	2010-05-04			ENSG00000179083	ENSG00000179083			26748	protein-coding gene	gene with protein product	"""cancer/testis antigen 115"""						Standard	NM_173698		Approved	RP1-32F7.2, FLJ37659, CT115	uc022bzv.1	Q8N9E0	OTTHUMG00000021975	ENST00000355813.5:c.488C>G	X.37:g.92964906C>G	ENSP00000348067:p.Ser163*	True	False		Somatic	0				FAM133A_ENST00000355813.5_Nonsense_Mutation_p.S163*|FAM133A_ENST00000332647.4_Nonsense_Mutation_p.S163*|FAM133A_ENST00000322139.4_Nonsense_Mutation_p.S163*	p.S163*	NM_001171110.1	NP_001164581.1	WXS	Illumina HiSeq	Phase_I	Q8N9E0	F133A_HUMAN			5	1049	+			163			Lys-rich.|Ser-rich.			Nonsense_Mutation	SNP	ENST00000355813.5	37	c.488C>G	CCDS14466.1	.	.	.	.	.	.	.	.	.	.	c	38	6.748977	0.97809	.	.	ENSG00000179083	ENST00000538690;ENST00000355813;ENST00000322139;ENST00000332647	.	.	.	3.0	2.13	0.27403	.	0.239763	0.36409	U	0.002607	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-0.0917	5.3653	0.16111	0.0:0.8372:0.0:0.1628	.	.	.	.	X	163	.	ENSP00000318974:S163X	S	+	2	0	FAM133A	92851562	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	0.909000	0.28558	0.668000	0.31126	0.597000	0.82753	TCA		0.363	FAM133A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057452.1	0	NM_173698		X:92964906
DCX	1641	broad.mit.edu	37	X	110644391	110644391	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chrX:110644391G>A	ENST00000338081.3	-	3	946	c.775C>T	c.(775-777)Cgc>Tgc	p.R259C	DCX_ENST00000371993.2_Missense_Mutation_p.R178C|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356915.2_Missense_Mutation_p.R178C|DCX_ENST00000356220.3_Missense_Mutation_p.R178C|DCX_ENST00000488120.1_Missense_Mutation_p.R178C	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	259			R -> C (in SBHX). {ECO:0000269|PubMed:12390976}.|R -> L (in SBHX).		axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)	p.R178C(1)|p.R259C(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						AGCTTGGGGCGCACAAAGTCC	0.537																																						ENST00000338081.3		NA																	2	Substitution - Missense(2)	p.R178C(1)|p.R259C(1)	kidney(2)	breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41	GRCh37	CM023910	DCX	M		c.(775-777)Cgc>Tgc		doublecortin							128.0	105.0	113.0					X																	110644391		2203	4300	6503	SO:0001583	missense	1641				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	g.chrX:110644391G>A	AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"""doublecortex"""	300121	"""doublecortex; lissencephaly, X-linked (doublecortin)"""			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.775C>T	X.37:g.110644391G>A	ENSP00000337697:p.Arg259Cys	False	False		Somatic	0				DCX_ENST00000371993.2_Missense_Mutation_p.R178C|DCX_ENST00000488120.1_Missense_Mutation_p.R178C|DCX_ENST00000356220.3_Missense_Mutation_p.R178C|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356915.2_Missense_Mutation_p.R178C	p.R259C	NM_000555.3	NP_000546.2	WXS	Illumina HiSeq	Phase_I	O43602	DCX_HUMAN			3	946	-			259		R -> C (in SBHX).|R -> L (in SBHX).			A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	ENST00000338081.3	37	c.775C>T	CCDS14556.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679772	0.88542	.	.	ENSG00000077279	ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120	D;D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32;-3.32	4.74	4.74	0.60224	Doublecortin domain (3);	0.131721	0.50627	D	0.000104	D	0.95592	0.8567	L	0.59436	1.845	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.66351	0.943;0.917	D	0.96124	0.9087	10	0.72032	D	0.01	.	17.6068	0.88040	0.0:0.0:1.0:0.0	.	247;259	B4DM53;O43602	.;DCX_HUMAN	C	178;178;259;178;178	ENSP00000349385:R178C;ENSP00000361061:R178C;ENSP00000337697:R259C;ENSP00000348553:R178C;ENSP00000419861:R178C	ENSP00000337697:R259C	R	-	1	0	DCX	110531047	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.624000	0.74243	2.283000	0.76528	0.600000	0.82982	CGC		0.537	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	0	NM_178153		X:110644391
GTPBP2	54676	broad.mit.edu	37	6	43593543	43593543	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:43593543G>A	ENST00000307126.5	-	4	456	c.457C>T	c.(457-459)Ccc>Tcc	p.P153S	GTPBP2_ENST00000307114.7_Missense_Mutation_p.P65S|GTPBP2_ENST00000476510.1_5'UTR	NM_019096.3	NP_061969.3			GTP binding protein 2											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			ATCTTCCGGGGCATGTCGCTA	0.552																																					GBM(116;405 1620 28302 32150 44768)	ENST00000307126.5		NA																	0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(457-459)Ccc>Tcc		GTP binding protein 2							268.0	213.0	231.0					6																	43593543		2203	4300	6503	SO:0001583	missense	54676						GTP binding|GTPase activity	g.chr6:43593543G>A	AB024574	CCDS4903.1, CCDS69124.1	6p21	2008-07-28			ENSG00000172432	ENSG00000172432			4670	protein-coding gene	gene with protein product		607434				10833435, 11054535	Standard	NM_019096		Approved		uc003ovs.3	Q9BX10	OTTHUMG00000014744	ENST00000307126.5:c.457C>T	6.37:g.43593543G>A	ENSP00000303997:p.Pro153Ser	True	False		Somatic	0				GTPBP2_ENST00000476510.1_5'UTR|GTPBP2_ENST00000307114.7_Missense_Mutation_p.P65S	p.P153S	NM_019096.3	NP_061969.3	WXS	Illumina HiSeq	Phase_I	Q9BX10	GTPB2_HUMAN	all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)		4	456	-	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		153						Missense_Mutation	SNP	ENST00000307126.5	37	c.457C>T	CCDS4903.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.400940	0.25291	.	.	ENSG00000172432	ENST00000307126;ENST00000307114;ENST00000452781	T;T;T	0.42513	1.56;1.59;0.97	4.78	4.78	0.61160	.	0.114076	0.64402	D	0.000013	T	0.11965	0.0291	N	0.05574	-0.02	0.50467	D	0.999875	B;B	0.09022	0.002;0.0	B;B	0.09377	0.004;0.001	T	0.09164	-1.0687	10	0.12766	T	0.61	-15.4253	17.9977	0.89189	0.0:0.0:1.0:0.0	.	145;153	Q9BX10-4;Q9BX10	.;GTPB2_HUMAN	S	153;65;145	ENSP00000303997:P153S;ENSP00000304893:P65S;ENSP00000410676:P145S	ENSP00000304893:P65S	P	-	1	0	GTPBP2	43701521	1.000000	0.71417	0.980000	0.43619	0.797000	0.45037	4.912000	0.63335	2.480000	0.83734	0.561000	0.74099	CCC		0.552	GTPBP2-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040679.1	0			6:43593543
OR10A5	144124	broad.mit.edu	37	11	6867677	6867677	+	Missense_Mutation	SNP	C	C	G			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:6867677C>G	ENST00000299454.4	+	1	795	c.764C>G	c.(763-765)tCt>tGt	p.S255C	OR10A5_ENST00000379831.2_Missense_Mutation_p.S259C			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	255					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	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(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTCTATATATCTTCTAGCCTC	0.433																																					Pancreas(44;21 1072 25662 28041 45559)	ENST00000299454.4		NA																	0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21						c.(763-765)tCt>tGt		olfactory receptor, family 10, subfamily A, member 5							193.0	188.0	189.0					11																	6867677		2201	4296	6497	SO:0001583	missense	144124				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6867677C>G	AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"""GPCR / Class A : Olfactory receptors"""	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.764C>G	11.37:g.6867677C>G	ENSP00000299454:p.Ser255Cys	True	False		Somatic	0				OR10A5_ENST00000379831.2_Missense_Mutation_p.S259C	p.S255C			WXS	Illumina HiSeq	Phase_I	Q9H207	O10A5_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	795	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	255					O95223|Q52M66|Q96R21|Q96R22	Missense_Mutation	SNP	ENST00000299454.4	37	c.764C>G	CCDS7773.1	.	.	.	.	.	.	.	.	.	.	.	7.000	0.554679	0.13436	.	.	ENSG00000166363	ENST00000299454;ENST00000379831	T;T	0.00183	8.6;8.6	3.59	3.59	0.41128	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000018	T	0.00300	0.0009	L	0.29908	0.895	0.09310	N	1	D	0.71674	0.998	D	0.70016	0.967	T	0.68834	-0.5304	10	0.41790	T	0.15	.	13.509	0.61499	0.0:1.0:0.0:0.0	.	255	Q9H207	O10A5_HUMAN	C	255;259	ENSP00000299454:S255C;ENSP00000369159:S259C	ENSP00000299454:S255C	S	+	2	0	OR10A5	6824253	0.000000	0.05858	0.221000	0.23827	0.007000	0.05969	0.600000	0.24104	2.269000	0.75478	0.591000	0.81541	TCT		0.433	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385983.1	0	NM_178168		11:6867677
RAMP3	10268	broad.mit.edu	37	7	45222846	45222846	+	Silent	SNP	C	C	T	rs138821752		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr7:45222846C>T	ENST00000242249.4	+	3	320	c.282C>T	c.(280-282)acC>acT	p.T94T	RAMP3_ENST00000481345.1_Silent_p.T94T|RAMP3_ENST00000496212.1_Silent_p.T94T	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	94					calcium ion transport (GO:0006816)|cellular response to estradiol stimulus (GO:0071392)|G-protein coupled receptor signaling pathway involved in heart process (GO:0086103)|intracellular protein transport (GO:0006886)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of receptor recycling (GO:0001921)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	GCTTCATCACCGGCATCCACA	0.592																																						ENST00000242249.4		NA																	0				breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11						c.(280-282)acC>acT		receptor (G protein-coupled) activity modifying protein 3	Pramlintide(DB01278)	C		1,4405	2.1+/-5.4	0,1,2202	82.0	82.0	82.0		282	-8.7	0.0	7	dbSNP_134	82	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	RAMP3	NM_005856.2		0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231		94/149	45222846	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	10268				intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity	g.chr7:45222846C>T	AJ001016	CCDS5503.1	7p13-p12	2006-11-21	2006-11-21		ENSG00000122679	ENSG00000122679		"""Receptor (G protein-coupled) activity modifying proteins"""	9845	protein-coding gene	gene with protein product		605155	"""receptor activity modifying protein 3"", ""receptor (calcitonin) activity modifying protein 3"""				Standard	NM_005856		Approved		uc003tnb.3	O60896	OTTHUMG00000023729	ENST00000242249.4:c.282C>T	7.37:g.45222846C>T		False	False		Somatic	0				RAMP3_ENST00000496212.1_Silent_p.T94T|RAMP3_ENST00000481345.1_Silent_p.T94T	p.T94T	NM_005856.2	NP_005847.1	WXS	Illumina HiSeq	Phase_I	O60896	RAMP3_HUMAN			3	320	+			94					Q7Z2Y1	Silent	SNP	ENST00000242249.4	37	c.282C>T	CCDS5503.1																																																																																				0.592	RAMP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251343.1	0	NM_005856		7:45222846
GALC	2581	broad.mit.edu	37	14	88411975	88411975	+	Missense_Mutation	SNP	C	C	T	rs200378205	byFrequency	TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr14:88411975C>T	ENST00000261304.2	-	14	1698	c.1592G>A	c.(1591-1593)cGc>cAc	p.R531H	GALC_ENST00000544807.2_Missense_Mutation_p.R475H|GALC_ENST00000393568.4_Missense_Mutation_p.R508H|GALC_ENST00000393569.2_Missense_Mutation_p.R505H	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	531			R -> C (in GLD).|R -> H (in GLD; infantile; significant reduction of activity). {ECO:0000269|PubMed:10234611}.		carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAGAACTTGGCGTAGCGTGAA	0.408													C|||	2	0.000399361	0.0	0.0	5008	,	,		15418	0.002		0.0	False		,,,				2504	0.0					ENST00000261304.2		NA																	0				endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	GRCh37	CM990620	GALC	M		c.(1591-1593)cGc>cAc		galactosylceramidase							123.0	119.0	120.0					14																	88411975		1885	4098	5983	SO:0001583	missense	2581				carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	g.chr14:88411975C>T	L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"""Krabbe disease"""	606890	"""galactosylceramidase (Krabbe disease)"""				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.1592G>A	14.37:g.88411975C>T	ENSP00000261304:p.Arg531His	False	False		Somatic	0				GALC_ENST00000393568.4_Missense_Mutation_p.R508H|GALC_ENST00000393569.2_Missense_Mutation_p.R505H|GALC_ENST00000544807.2_Missense_Mutation_p.R475H	p.R531H	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	WXS	Illumina HiSeq	Phase_I	P54803	GALC_HUMAN			14	1698	-			531		R -> C (in GLD).|R -> H (in GLD; infantile; significant reduction of activity).			B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Missense_Mutation	SNP	ENST00000261304.2	37	c.1592G>A	CCDS9878.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	17.14	3.314547	0.60524	.	.	ENSG00000054983	ENST00000261304;ENST00000544807;ENST00000393569;ENST00000539620;ENST00000393568	D;D;D;D	0.95035	-3.59;-3.59;-3.59;-3.59	5.5	4.61	0.57282	.	0.048176	0.85682	D	0.000000	D	0.97745	0.9260	M	0.91140	3.18	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.997;0.999	D	0.98792	1.0736	10	0.87932	D	0	-13.106	15.9398	0.79745	0.1363:0.8637:0.0:0.0	.	475;508;505;531	P54803-5;E7EPA4;P54803-4;P54803	.;.;.;GALC_HUMAN	H	531;475;505;320;508	ENSP00000261304:R531H;ENSP00000437513:R475H;ENSP00000377199:R505H;ENSP00000377198:R508H	ENSP00000261304:R531H	R	-	2	0	GALC	87481728	1.000000	0.71417	0.840000	0.33206	0.012000	0.07955	7.637000	0.83313	1.441000	0.47550	0.585000	0.79938	CGC		0.408	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2	0			14:88411975
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTGTGCGCCGGTCTCTCCCA	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM056413|CM920678	TP53	M	rs28934574	c.(844-846)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83.0	71.0	75.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577094G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp	False	False	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	Somatic	0				TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W	p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina HiSeq	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	976	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	282		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.844C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7577094
MBD4	8930	broad.mit.edu	37	3	129155916	129155916	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr3:129155916G>A	ENST00000249910.1	-	3	746	c.571C>T	c.(571-573)Ccg>Tcg	p.P191S	MBD4_ENST00000429544.2_Missense_Mutation_p.P191S|MBD4_ENST00000507208.1_Missense_Mutation_p.P191S|MBD4_ENST00000509587.1_Intron|MBD4_ENST00000393278.2_Intron|MBD4_ENST00000503197.1_Missense_Mutation_p.P191S	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	191					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						CTACTTGGCGGCATAAACACA	0.443								Base excision repair (BER), DNA glycosylases																														ENST00000429544.2		NA																	0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						c.(571-573)Ccg>Tcg	Base excision repair (BER), DNA glycosylases	methyl-CpG binding domain protein 4							145.0	153.0	151.0					3																	129155916		2203	4300	6503	SO:0001583	missense	8930				depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding	g.chr3:129155916G>A	AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.571C>T	3.37:g.129155916G>A	ENSP00000249910:p.Pro191Ser	False	False		Somatic	0				MBD4_ENST00000507208.1_Missense_Mutation_p.P191S|MBD4_ENST00000509587.1_Intron|MBD4_ENST00000393278.2_Intron|MBD4_ENST00000249910.1_Missense_Mutation_p.P191S|MBD4_ENST00000503197.1_Missense_Mutation_p.P191S	p.P191S	NM_001276270.1	NP_001263199.1	WXS	Illumina HiSeq	Phase_I	O95243	MBD4_HUMAN			3	766	-			191					B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000249910.1	37	c.571C>T	CCDS3058.1	.	.	.	.	.	.	.	.	.	.	G	5.883	0.347124	0.11126	.	.	ENSG00000129071	ENST00000429544;ENST00000249910;ENST00000503197;ENST00000507208	D;D;D;D	0.92965	-2.93;-2.93;-3.14;-3.13	5.52	2.73	0.32206	.	1.116230	0.06686	N	0.768725	T	0.81422	0.4819	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.001;0.003;0.002;0.001	T	0.69785	-0.5051	10	0.56958	D	0.05	-0.0057	5.7883	0.18347	0.1473:0.0:0.5833:0.2694	.	191;191;191;191	E9PEE4;O95243-2;O95243-3;O95243	.;.;.;MBD4_HUMAN	S	191	ENSP00000394080:P191S;ENSP00000249910:P191S;ENSP00000424873:P191S;ENSP00000422327:P191S	ENSP00000249910:P191S	P	-	1	0	MBD4	130638606	0.004000	0.15560	0.005000	0.12908	0.003000	0.03518	0.522000	0.22909	0.289000	0.22422	-0.143000	0.13931	CCG		0.443	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355529.1	0	NM_003925		3:129155916
HLA-V	352962	broad.mit.edu	37	6	29761777	29761777	+	RNA	SNP	T	T	C			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:29761777T>C	ENST00000457107.1	+	0	1003									major histocompatibility complex, class I, V (pseudogene)																		tcagcaggattggtgcaaagc	0.542																																						ENST00000457107.1		NA																	0					NA																																														0							g.chr6:29761777T>C	M96332		6p21.3	2012-10-05	2007-12-12	2007-12-12	ENSG00000181126	ENSG00000181126		"""Histocompatibility complex"""	23482	pseudogene	pseudogene			"""HLA-75 pseudogene"""	HLA-75			Standard	NG_002729		Approved	dJ377H14.4			OTTHUMG00000031277		6.37:g.29761777T>C		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	1003	+			NA						RNA	SNP	ENST00000457107.1	37																																																																																						0.542	HLA-V-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000105231.1	0	NG_002729		6:29761777
KRTAP4-3	85290	broad.mit.edu	37	17	39324213	39324213	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr17:39324213C>T	ENST00000391356.2	-	1	211	c.212G>A	c.(211-213)cGc>cAc	p.R71H		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	71	29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			gcagctggggcggcagcaggt	0.637																																						ENST00000391356.2		NA																	0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12						c.(211-213)cGc>cAc		keratin associated protein 4-3							3.0	5.0	4.0					17																	39324213		1366	3428	4794	SO:0001583	missense	85290					keratin filament		g.chr17:39324213C>T	AJ406935	CCDS42331.1	17q21.2	2013-06-25			ENSG00000196156	ENSG00000196156		"""Keratin associated proteins"""	18908	protein-coding gene	gene with protein product							Standard	NM_033187		Approved	KAP4.3	uc010cxl.3	Q9BYR4	OTTHUMG00000133639	ENST00000391356.2:c.212G>A	17.37:g.39324213C>T	ENSP00000375151:p.Arg71His	True	False		Somatic	0					p.R71H	NM_033187.1	NP_149443.1	WXS	Illumina HiSeq	Phase_I	Q9BYR4	KRA43_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	211	-		Breast(137;0.000496)	71			29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].			Missense_Mutation	SNP	ENST00000391356.2	37	c.212G>A	CCDS42331.1	.	.	.	.	.	.	.	.	.	.	.	14.27	2.484619	0.44147	.	.	ENSG00000196156	ENST00000391356	T	0.01495	4.83	4.46	1.32	0.21799	.	.	.	.	.	T	0.01870	0.0059	L	0.54908	1.71	0.09310	N	1	P	0.38335	0.627	B	0.23018	0.043	T	0.44667	-0.9313	9	0.66056	D	0.02	.	8.1078	0.30896	0.0:0.721:0.0:0.279	.	71	Q9BYR4	KRA43_HUMAN	H	71	ENSP00000375151:R71H	ENSP00000375151:R71H	R	-	2	0	KRTAP4-3	36577739	0.000000	0.05858	0.174000	0.22961	0.413000	0.31143	-0.095000	0.11077	0.081000	0.16988	0.609000	0.83330	CGC		0.637	KRTAP4-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257784.1	0			17:39324213
IGFLR1	79713	broad.mit.edu	37	19	36231946	36231946	+	Missense_Mutation	SNP	A	A	C			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:36231946A>C	ENST00000592537.1	-	2	236	c.136T>G	c.(136-138)Ttc>Gtc	p.F46V	KMT2B_ENST00000607650.1_RNA|IGFLR1_ENST00000588992.1_Missense_Mutation_p.F46V|AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000592889.1_Missense_Mutation_p.F46V|IGFLR1_ENST00000246532.1_Missense_Mutation_p.F46V|IGFLR1_ENST00000587101.1_5'Flank|IGFLR1_ENST00000344990.3_Missense_Mutation_p.F46V			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						GGCGGCCCGAAGCGTTGCAGG	0.672																																						ENST00000592537.1		NA																	0				endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						c.(136-138)Ttc>Gtc		IGF-like family receptor 1							22.0	31.0	28.0					19																	36231946		2203	4299	6502	SO:0001583	missense	79713					integral to membrane|plasma membrane	protein binding|receptor activity	g.chr19:36231946A>C	AK026226	CCDS12472.1	19q13.12	2012-10-02	2011-04-04	2011-04-04	ENSG00000126246	ENSG00000126246			23620	protein-coding gene	gene with protein product		614143	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 4"", ""transmembrane protein 149"""	U2AF1L4, TMEM149		21454693	Standard	NM_024660		Approved	FLJ22573	uc002obd.4	Q9H665		ENST00000592537.1:c.136T>G	19.37:g.36231946A>C	ENSP00000466181:p.Phe46Val	False	False		Somatic	0				IGFLR1_ENST00000592889.1_Missense_Mutation_p.F46V|AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000588992.1_Missense_Mutation_p.F46V|IGFLR1_ENST00000246532.1_Missense_Mutation_p.F46V|IGFLR1_ENST00000344990.3_Missense_Mutation_p.F46V	p.F46V			WXS	Illumina HiSeq	Phase_I	Q9H665	IGFR1_HUMAN			2	236	-			46					Q8N5X0	Missense_Mutation	SNP	ENST00000592537.1	37	c.136T>G	CCDS12472.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.224049	0.79576	.	.	ENSG00000126246	ENST00000246532;ENST00000344990	D	0.92249	-3.0	4.93	3.86	0.44501	.	0.364637	0.26234	N	0.025544	D	0.90508	0.7026	M	0.61703	1.905	0.24562	N	0.993961	P;B	0.46142	0.873;0.27	P;B	0.45681	0.49;0.162	D	0.85018	0.0910	10	0.56958	D	0.05	-29.0104	8.7011	0.34327	0.8087:0.1913:0.0:0.0	.	46;46	Q9H665;Q9H665-2	IGFR1_HUMAN;.	V	46	ENSP00000246532:F46V	ENSP00000246532:F46V	F	-	1	0	IGFLR1	40923786	0.549000	0.26481	1.000000	0.80357	0.896000	0.52359	1.176000	0.31957	2.072000	0.62099	0.459000	0.35465	TTC		0.672	IGFLR1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459077.1	0	NM_024660		19:36231946
TPTE	7179	broad.mit.edu	37	21	10942745	10942745	+	Missense_Mutation	SNP	C	C	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr21:10942745C>A	ENST00000361285.4	-	13	1025	c.696G>T	c.(694-696)agG>agT	p.R232S	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.R194S|TPTE_ENST00000298232.7_Missense_Mutation_p.R214S	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	232	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAAATCCATCCCTTGTGTATC	0.308																																						ENST00000298232.7		NA																	0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(640-642)agG>agT		transmembrane phosphatase with tensin homology							484.0	423.0	444.0					21																	10942745		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10942745C>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.696G>T	21.37:g.10942745C>A	ENSP00000355208:p.Arg232Ser	True	False		Somatic	0				TPTE_ENST00000361285.4_Missense_Mutation_p.R232S|TPTE_ENST00000342420.5_Missense_Mutation_p.R194S|TPTE_ENST00000415664.2_5'UTR	p.R214S	NM_199259.2	NP_954868.1	WXS	Illumina HiSeq	Phase_I	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	12	1009	-			232					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.642G>T	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	10.06	1.246943	0.22796	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	T;T;T	0.29142	1.58;1.58;1.58	2.07	0.162	0.14981	Phosphatase tensin type (1);	0.162065	0.52532	U	0.000067	T	0.24890	0.0604	L	0.46157	1.445	0.26087	N	0.981001	B;B;B	0.33345	0.409;0.409;0.012	B;B;B	0.37422	0.196;0.249;0.008	T	0.16188	-1.0411	10	0.66056	D	0.02	-10.1256	6.055	0.19807	0.0:0.6974:0.0:0.3026	.	194;214;232	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	S	214;232;194	ENSP00000298232:R214S;ENSP00000355208:R232S;ENSP00000344441:R194S	ENSP00000298232:R214S	R	-	3	2	TPTE	9964616	0.996000	0.38824	0.396000	0.26296	0.598000	0.36846	0.311000	0.19380	0.028000	0.15324	0.194000	0.17425	AGG		0.308	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1	0			21:10942745
SLC25A48	153328	broad.mit.edu	37	5	135188366	135188366	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr5:135188366G>A	ENST00000420621.1	+	4	449	c.277G>A	c.(277-279)Ggg>Agg	p.G93R	SLC25A48_ENST00000274513.5_Missense_Mutation_p.G93R|SLC25A48_ENST00000412661.2_Missense_Mutation_p.G93R|SLC25A48_ENST00000433282.2_Missense_Mutation_p.G39R|SLC25A48_ENST00000425402.1_Intron			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	93					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						GCACCGCTGCGGGGAGCCAGA	0.667																																						ENST00000274513.5		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						c.(277-279)Ggg>Agg		solute carrier family 25, member 48							63.0	72.0	69.0					5																	135188366		1956	4132	6088	SO:0001583	missense	153328				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr5:135188366G>A		CCDS43366.2	5q31.1	2013-05-22			ENSG00000145832	ENSG00000145832		"""Solute carriers"""	30451	protein-coding gene	gene with protein product	"""HCC-down-regulated mitochondrial carrier protein"""					15322095, 19303656	Standard	NM_145282		Approved	FLJ44862, HDMCP	uc003lba.3	Q6ZT89	OTTHUMG00000157007	ENST00000420621.1:c.277G>A	5.37:g.135188366G>A	ENSP00000407973:p.Gly93Arg	True	False		Somatic	0				SLC25A48_ENST00000412661.2_Missense_Mutation_p.G93R|SLC25A48_ENST00000420621.1_Missense_Mutation_p.G93R|SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000433282.2_Missense_Mutation_p.G39R	p.G93R			WXS	Illumina HiSeq	Phase_I	Q6ZT89	S2548_HUMAN			4	449	+			93					Q8TAV9	Missense_Mutation	SNP	ENST00000420621.1	37	c.277G>A		.	.	.	.	.	.	.	.	.	.	G	6.814	0.519364	0.13005	.	.	ENSG00000145832	ENST00000274513;ENST00000420621;ENST00000433282;ENST00000412661	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	5.08	-8.67	0.00863	.	0.646404	0.16859	N	0.196603	T	0.43211	0.1237	N	0.10685	0.025	0.41440	D	0.987911	B;B	0.34147	0.002;0.438	B;B	0.23716	0.008;0.048	T	0.43114	-0.9411	10	0.20519	T	0.43	-15.6428	7.7379	0.28825	0.4958:0.2008:0.3033:0.0	.	93;93	Q6ZT89-3;Q6ZT89-2	.;.	R	93;93;39;93	ENSP00000274513:G93R;ENSP00000407973:G93R;ENSP00000399834:G39R;ENSP00000413049:G93R	ENSP00000274513:G93R	G	+	1	0	SLC25A48	135216265	0.965000	0.33210	0.005000	0.12908	0.036000	0.12997	0.890000	0.28295	-2.100000	0.00848	-1.773000	0.00660	GGG		0.667	SLC25A48-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	NM_145282		5:135188366
UNC13A	23025	broad.mit.edu	37	19	17766751	17766751	+	Silent	SNP	G	G	A	rs369156469		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:17766751G>A	ENST00000519716.2	-	10	1223	c.1224C>T	c.(1222-1224)ccC>ccT	p.P408P	UNC13A_ENST00000552293.1_Silent_p.P408P|UNC13A_ENST00000550896.1_Silent_p.P408P|UNC13A_ENST00000252773.7_Silent_p.P408P|UNC13A_ENST00000428389.2_Silent_p.P496P|UNC13A_ENST00000551649.1_Silent_p.P408P	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	408					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GCACCTTGTCGGGCGTGGCTG	0.692																																						ENST00000428389.2		NA																	0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(1486-1488)ccC>ccT		unc-13 homolog A (C. elegans)		G		1,4031		0,1,2015	22.0	27.0	25.0		1224	-8.5	0.0	19		25	1,8337		0,1,4168	no	coding-synonymous	UNC13A	NM_001080421.2		0,2,6183	AA,AG,GG		0.012,0.0248,0.0162		408/1704	17766751	2,12368	2016	4169	6185	SO:0001819	synonymous_variant	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17766751G>A	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.1224C>T	19.37:g.17766751G>A		True	False		Somatic	0				UNC13A_ENST00000552293.1_Silent_p.P408P|UNC13A_ENST00000551649.1_Silent_p.P408P|UNC13A_ENST00000550896.1_Silent_p.P408P|UNC13A_ENST00000519716.2_Silent_p.P408P|UNC13A_ENST00000252773.7_Silent_p.P408P	p.P496P			WXS	Illumina HiSeq	Phase_I	Q9UPW8	UN13A_HUMAN			11	1487	-			408					E5RHY9	Silent	SNP	ENST00000519716.2	37	c.1488C>T	CCDS46013.2																																																																																				0.692	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	0	XM_038604		19:17766751
LOXL2	4017	broad.mit.edu	37	8	23155589	23155589	+	Silent	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr8:23155589G>A	ENST00000389131.3	-	14	2661	c.2292C>T	c.(2290-2292)agC>agT	p.S764S		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	764					aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TTAAGAGCCCGCTGAAGTGCT	0.532																																						ENST00000389131.3		NA																	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2290-2292)agC>agT		lysyl oxidase-like 2							82.0	78.0	79.0					8																	23155589		2203	4300	6503	SO:0001819	synonymous_variant	4017				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	g.chr8:23155589G>A	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.2292C>T	8.37:g.23155589G>A		True	False		Somatic	0					p.S764S	NM_002318.2	NP_002309.1	WXS	Illumina HiSeq	Phase_I	Q9Y4K0	LOXL2_HUMAN		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)	14	2661	-		Prostate(55;0.0453)|Breast(100;0.143)	764					B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Silent	SNP	ENST00000389131.3	37	c.2292C>T	CCDS34864.1																																																																																				0.532	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1	0			8:23155589
RSPRY1	89970	broad.mit.edu	37	16	57238646	57238646	+	Missense_Mutation	SNP	C	C	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr16:57238646C>A	ENST00000537866.1	+	2	949	c.76C>A	c.(76-78)Cac>Aac	p.H26N	RSPRY1_ENST00000394420.4_Missense_Mutation_p.H26N			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	26						extracellular region (GO:0005576)	zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TCTCGAAGAGCACATAGCCCA	0.502																																						ENST00000537866.1		NA																	0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						c.(76-78)Cac>Aac		ring finger and SPRY domain containing 1							206.0	211.0	209.0					16																	57238646		2198	4300	6498	SO:0001583	missense	89970					extracellular region	zinc ion binding	g.chr16:57238646C>A	AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"""RING-type (C3HC4) zinc fingers"""	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.76C>A	16.37:g.57238646C>A	ENSP00000443176:p.His26Asn	False	False		Somatic	0				RSPRY1_ENST00000394420.4_Missense_Mutation_p.H26N	p.H26N			WXS	Illumina HiSeq	Phase_I	Q96DX4	RSPRY_HUMAN			2	949	+			26					Q6UX21|Q8ND53	Missense_Mutation	SNP	ENST00000537866.1	37	c.76C>A	CCDS10775.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469227	0.63625	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	D;D	0.84660	-1.88;-1.88	5.12	5.12	0.69794	.	0.163476	0.42821	D	0.000651	T	0.82157	0.4976	L	0.40543	1.245	0.48571	D	0.99967	P;B	0.42518	0.782;0.039	B;B	0.40256	0.324;0.005	D	0.84695	0.0725	10	0.66056	D	0.02	.	18.9378	0.92592	0.0:1.0:0.0:0.0	.	26;26	Q96DX4-2;Q96DX4	.;RSPRY_HUMAN	N	26	ENSP00000377942:H26N;ENSP00000443176:H26N	ENSP00000377942:H26N	H	+	1	0	RSPRY1	55796147	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.155000	0.64900	2.550000	0.86006	0.655000	0.94253	CAC		0.502	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1	0	NM_133368		16:57238646
KCNA5	3741	broad.mit.edu	37	12	5153999	5153999	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:5153999G>A	ENST00000252321.3	+	1	915	c.686G>A	c.(685-687)cGc>cAc	p.R229H		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	229					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	CCCCTGCCCCGCAACGAGTTC	0.607																																						ENST00000252321.3		NA																	0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						c.(685-687)cGc>cAc		potassium voltage-gated channel, shaker-related subfamily, member 5							68.0	77.0	74.0					12																	5153999		2203	4300	6503	SO:0001583	missense	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5153999G>A	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.686G>A	12.37:g.5153999G>A	ENSP00000252321:p.Arg229His	True	False		Somatic	0					p.R229H	NM_002234.3	NP_002225.2	WXS	Illumina HiSeq	Phase_I	P22460	KCNA5_HUMAN			1	915	+			229					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	37	c.686G>A	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016133	0.35606	.	.	ENSG00000130037	ENST00000252321	T	0.65549	-0.16	4.77	4.77	0.60923	.	1.183500	0.06286	U	0.698225	T	0.56906	0.2017	L	0.35644	1.08	0.29339	N	0.866187	B	0.13145	0.007	B	0.12837	0.008	T	0.46938	-0.9155	10	0.52906	T	0.07	.	12.4671	0.55764	0.0832:0.0:0.9168:0.0	.	229	P22460	KCNA5_HUMAN	H	229	ENSP00000252321:R229H	ENSP00000252321:R229H	R	+	2	0	KCNA5	5024260	0.000000	0.05858	0.996000	0.52242	0.991000	0.79684	-0.403000	0.07214	2.478000	0.83669	0.561000	0.74099	CGC		0.607	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	0	NM_002234		12:5153999
MYT1L	23040	broad.mit.edu	37	2	1983497	1983497	+	Missense_Mutation	SNP	C	C	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr2:1983497C>A	ENST00000399161.2	-	6	800	c.53G>T	c.(52-54)cGa>cTa	p.R18L	MYT1L_ENST00000428368.2_Missense_Mutation_p.R18L	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	18					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGACATACCTCGAACCCCTTT	0.582																																						ENST00000399161.2		NA																	0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(52-54)cGa>cTa		myelin transcription factor 1-like							50.0	58.0	55.0					2																	1983497		2010	4177	6187	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1983497C>A	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.53G>T	2.37:g.1983497C>A	ENSP00000382114:p.Arg18Leu	False	False		Somatic	0				MYT1L_ENST00000428368.2_Missense_Mutation_p.R18L	p.R18L	NM_015025.2	NP_055840.2	WXS	Illumina HiSeq	Phase_I	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	6	800	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	18					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.53G>T		.	.	.	.	.	.	.	.	.	.	C	22.7	4.324853	0.81580	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.56444	0.46;0.46	5.1	5.1	0.69264	.	0.000000	0.47852	D	0.000207	T	0.69251	0.3090	L	0.54323	1.7	0.58432	D	0.999995	D;D	0.63046	0.987;0.992	D;D	0.70487	0.931;0.969	T	0.71656	-0.4527	10	0.72032	D	0.01	-19.3941	18.8902	0.92397	0.0:1.0:0.0:0.0	.	18;18	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	L	18	ENSP00000382114:R18L;ENSP00000396103:R18L	ENSP00000295067:R18L	R	-	2	0	MYT1L	1962504	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.591000	0.74090	2.539000	0.85634	0.591000	0.81541	CGA		0.582	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	0	NM_015025		2:1983497
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	WXS	Illumina HiSeq	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	NM_033360		12:25398284
MED12L	116931	broad.mit.edu	37	3	151075109	151075109	+	Missense_Mutation	SNP	C	C	T	rs374174117		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr3:151075109C>T	ENST00000474524.1	+	18	2703	c.2665C>T	c.(2665-2667)Cgc>Tgc	p.R889C	MED12L_ENST00000273432.4_Missense_Mutation_p.R749C|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	889						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGTTCTCAGGCGCTATCACAG	0.453																																						ENST00000474524.1		NA																	0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(2665-2667)Cgc>Tgc		mediator complex subunit 12-like		C	CYS/ARG,	1,4405	2.1+/-5.4	0,1,2202	128.0	109.0	116.0		2665,	4.4	0.9	3		116	0,8600		0,0,4300	no	missense,intron	P2RY12,MED12L	NM_053002.4,NM_022788.3	180,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,	889/2146,	151075109	1,13005	2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151075109C>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.2665C>T	3.37:g.151075109C>T	ENSP00000417235:p.Arg889Cys	False	False		Somatic	0				MED12L_ENST00000273432.4_Missense_Mutation_p.R749C|P2RY12_ENST00000302632.3_Intron	p.R889C	NM_053002.4	NP_443728.3	WXS	Illumina HiSeq	Phase_I	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		18	2703	+			889					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.2665C>T	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953030	0.73902	2.27E-4	0.0	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.79454	-1.27;-1.27	5.3	4.42	0.53409	.	0.000000	0.85682	D	0.000000	D	0.85418	0.5692	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.995	D;P;P	0.72982	0.979;0.616;0.635	D	0.86975	0.2100	10	0.72032	D	0.01	-26.0088	15.3411	0.74296	0.141:0.859:0.0:0.0	.	749;889;889	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	C	889;749	ENSP00000417235:R889C;ENSP00000273432:R749C	ENSP00000273432:R749C	R	+	1	0	MED12L	152557799	1.000000	0.71417	0.866000	0.34008	0.957000	0.61999	2.622000	0.46427	1.336000	0.45506	-0.169000	0.13324	CGC		0.453	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	0	NM_053002		3:151075109
TUBA3C	7278	broad.mit.edu	37	13	19751734	19751734	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr13:19751734G>A	ENST00000400113.3	-	4	493	c.389C>T	c.(388-390)aCg>aTg	p.T130M		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	130					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CTGCAGTCCCGTGCACAGATC	0.582																																						ENST00000400113.3		NA																	0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(388-390)aCg>aTg		tubulin, alpha 3c							50.0	48.0	48.0					13																	19751734		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19751734G>A	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.389C>T	13.37:g.19751734G>A	ENSP00000382982:p.Thr130Met	True	False		Somatic	0					p.T130M	NM_006001.2	NP_005992.1	WXS	Illumina HiSeq	Phase_I	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	4	493	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	130					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.389C>T	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	g	9.895	1.205228	0.22205	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.68624	-0.34	1.19	1.19	0.21007	.	0.000000	0.48286	U	0.000184	T	0.70439	0.3224	.	.	.	0.40500	D	0.980633	.	.	.	.	.	.	T	0.72763	-0.4195	7	0.87932	D	0	.	8.3041	0.32032	0.0:0.0:1.0:0.0	.	.	.	.	M	130	ENSP00000382982:T130M	ENSP00000354037:T130M	T	-	2	0	TUBA3C	18649734	1.000000	0.71417	0.920000	0.36463	0.408000	0.30992	4.910000	0.63321	0.966000	0.38159	0.162000	0.16502	ACG		0.582	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	0	NM_006001		13:19751734
RPS6KB2	6199	broad.mit.edu	37	11	67200423	67200423	+	Splice_Site	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:67200423G>A	ENST00000312629.5	+	8	662	c.617G>A	c.(616-618)gGc>gAc	p.G206D	AP003419.16_ENST00000535922.1_RNA|RPS6KB2_ENST00000539188.1_3'UTR|RPS6KB2_ENST00000524814.1_3'UTR	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	206	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CCTTCCTCAGGCCACATCAAA	0.612																																						ENST00000312629.5		NA																	0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25						c.e8-1		ribosomal protein S6 kinase, 70kDa, polypeptide 2							41.0	45.0	43.0					11																	67200423		2050	4199	6249	SO:0001630	splice_region_variant	6199				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:67200423G>A	AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"""ribosomal protein S6 kinase, 70kD, polypeptide 2"""			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.617-1G>A	11.37:g.67200423G>A		False	False		Somatic	0				RPS6KB2_ENST00000524814.1_3'UTR|RPS6KB2_ENST00000539188.1_3'UTR|AP003419.16_ENST00000535922.1_RNA	p.G206_splice	NM_003952.2	NP_003943.2	WXS	Illumina HiSeq	Phase_I	Q9UBS0	KS6B2_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		8	662	+			206			Protein kinase.		B2RMZ9|B4DML8|O94809|Q9UEC1	Splice_Site	SNP	ENST00000312629.5	37	c.616_splice	CCDS41677.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.69|15.69	2.909408|2.909408	0.52439|0.52439	.|.	.|.	ENSG00000175634|ENSG00000175634	ENST00000524814|ENST00000312629	.|T	.|0.31510	.|1.49	4.76|4.76	4.76|4.76	0.60689|0.60689	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.58308|0.58308	0.2113|0.2113	M|M	0.80422|0.80422	2.495|2.495	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	T|T	0.61778|0.61778	-0.6993|-0.6993	5|9	.|.	.|.	.|.	.|.	16.6904|16.6904	0.85320|0.85320	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|206;206	.|Q9BRS0;Q9UBS0	.|.;KS6B2_HUMAN	T|D	157|206	.|ENSP00000308413:G206D	.|.	A|G	+|+	1|2	0|0	RPS6KB2|RPS6KB2	66956999|66956999	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	9.087000|9.087000	0.94110|0.94110	2.461000|2.461000	0.83175|0.83175	0.561000|0.561000	0.74099|0.74099	GCC|GGC		0.612	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395508.1	0	NM_003952	Missense_Mutation	11:67200423
AP3B1	8546	broad.mit.edu	37	5	77436974	77436974	+	Missense_Mutation	SNP	G	G	C			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr5:77436974G>C	ENST00000255194.6	-	15	1818	c.1643C>G	c.(1642-1644)tCc>tGc	p.S548C	AP3B1_ENST00000519295.1_Missense_Mutation_p.S499C	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	548					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		CACCTGTTTGGAGTTGGTTAA	0.408									Hermansky-Pudlak syndrome																													ENST00000255194.6		NA																	0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39						c.(1642-1644)tCc>tGc		adaptor-related protein complex 3, beta 1 subunit							124.0	133.0	130.0					5																	77436974		2203	4300	6503	SO:0001583	missense	8546	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	g.chr5:77436974G>C	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.1643C>G	5.37:g.77436974G>C	ENSP00000255194:p.Ser548Cys	False	False		Somatic	0				AP3B1_ENST00000519295.1_Missense_Mutation_p.S499C	p.S548C	NM_001271769.1	NP_001258698.1	WXS	Illumina HiSeq	Phase_I	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	15	1818	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	548					E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	ENST00000255194.6	37	c.1643C>G	CCDS4041.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686301	0.88639	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760;ENST00000535667	T;T	0.14266	2.52;2.52	5.63	5.63	0.86233	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	M	0.79258	2.445	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.29579	-1.0007	10	0.87932	D	0	-8.1557	19.6633	0.95882	0.0:0.0:1.0:0.0	.	548	O00203	AP3B1_HUMAN	C	548;499;548;452	ENSP00000255194:S548C;ENSP00000430597:S499C	ENSP00000255194:S548C	S	-	2	0	AP3B1	77472730	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.864000	0.99589	2.638000	0.89438	0.655000	0.94253	TCC		0.408	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2	0			5:77436974
UPF1	5976	broad.mit.edu	37	19	18971174	18971174	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:18971174G>A	ENST00000599848.1	+	16	2469	c.2260G>A	c.(2260-2262)Gat>Aat	p.D754N	UPF1_ENST00000262803.5_Missense_Mutation_p.D743N			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	754					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GCCCCAACCCGATAAACCGAT	0.572																																						ENST00000262803.5		NA																	0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(2227-2229)Gat>Aat		UPF1 regulator of nonsense transcripts homolog (yeast)							165.0	149.0	155.0					19																	18971174		2203	4300	6503	SO:0001583	missense	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr19:18971174G>A	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.2260G>A	19.37:g.18971174G>A	ENSP00000470142:p.Asp754Asn	True	False		Somatic	0				UPF1_ENST00000599848.1_Missense_Mutation_p.D754N	p.D743N	NM_002911.3	NP_002902.2	WXS	Illumina HiSeq	Phase_I	Q92900	RENT1_HUMAN			16	2499	+			754					O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37	c.2227G>A		.	.	.	.	.	.	.	.	.	.	G	15.28	2.786634	0.49997	.	.	ENSG00000005007	ENST00000262803	D	0.82619	-1.63	4.62	4.62	0.57501	.	0.049115	0.85682	D	0.000000	T	0.70107	0.3186	N	0.11756	0.17	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.64875	-0.6304	10	0.26408	T	0.33	-36.0408	16.4462	0.83935	0.0:0.0:1.0:0.0	.	754;743	Q92900;Q92900-2	RENT1_HUMAN;.	N	743	ENSP00000262803:D743N	ENSP00000262803:D743N	D	+	1	0	UPF1	18832174	1.000000	0.71417	0.995000	0.50966	0.693000	0.40251	9.369000	0.97156	2.108000	0.64289	0.478000	0.44815	GAT		0.572	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	0	NM_002911		19:18971174
OR5H14	403273	broad.mit.edu	37	3	97868710	97868710	+	Nonsense_Mutation	SNP	G	G	T	rs547429427	byFrequency	TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr3:97868710G>T	ENST00000437310.1	+	1	541	c.481G>T	c.(481-483)Gga>Tga	p.G161*	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AATCCATGAAGGATTTTTATT	0.353																																						ENST00000437310.1		NA																	0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(481-483)Gga>Tga		olfactory receptor, family 5, subfamily H, member 14							103.0	105.0	104.0					3																	97868710		2202	4300	6502	SO:0001587	stop_gained	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97868710G>T		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"""GPCR / Class A : Olfactory receptors"""	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.481G>T	3.37:g.97868710G>T	ENSP00000401706:p.Gly161*	False	False		Somatic	0					p.G161*	NM_001005514.1	NP_001005514.1	WXS	Illumina HiSeq	Phase_I	A6NHG9	O5H14_HUMAN			1	541	+			161					B9EH15	Nonsense_Mutation	SNP	ENST00000437310.1	37	c.481G>T	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	g	10.51	1.369165	0.24771	.	.	ENSG00000236032	ENST00000437310	.	.	.	2.49	-4.97	0.03029	.	0.899723	0.09201	N	0.834639	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	1.2356	0.01952	0.3199:0.1452:0.3874:0.1475	.	.	.	.	X	161	.	ENSP00000401706:G161X	G	+	1	0	OR5H14	99351400	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.434000	0.01021	-1.909000	0.01085	-1.051000	0.02340	GGA		0.353	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1	0			3:97868710
CBWD6	644019	broad.mit.edu	37	9	69247529	69247529	+	Silent	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr9:69247529G>A	ENST00000377457.5	-	5	588	c.483C>T	c.(481-483)taC>taT	p.Y161Y	CBWD6_ENST00000382399.4_Intron|CBWD6_ENST00000377449.1_Silent_p.Y125Y	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN	COBW domain containing 6	161							ATP binding (GO:0005524)	p.Y161Y(1)		lung(4)	4						TACCATCAAGGTAAATATCAC	0.299																																						ENST00000377457.5		NA																	1	Substitution - coding silent(1)	p.Y161Y(1)	lung(1)	lung(4)	4						c.(481-483)taC>taT		COBW domain containing 6																																				SO:0001819	synonymous_variant	644019						ATP binding	g.chr9:69247529G>A		CCDS43827.1	9q13	2006-06-30			ENSG00000204790	ENSG00000204790			31978	protein-coding gene	gene with protein product							Standard	NM_001085457		Approved	OTTHUMG00000066820	uc004afj.4	Q4V339	OTTHUMG00000066820	ENST00000377457.5:c.483C>T	9.37:g.69247529G>A		False	False		Somatic	0				CBWD6_ENST00000382399.4_Intron|CBWD6_ENST00000377449.1_Silent_p.Y125Y	p.Y161Y	NM_001085457.1	NP_001078926.1	WXS	Illumina HiSeq	Phase_I	Q4V339	CBWD6_HUMAN			5	588	-			161						Silent	SNP	ENST00000377457.5	37	c.483C>T	CCDS43827.1																																																																																				0.299	CBWD6-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143172.2	0	XM_928822		9:69247529
RGL2	5863	broad.mit.edu	37	6	33263940	33263940	+	Silent	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:33263940G>A	ENST00000497454.1	-	6	1128	c.633C>T	c.(631-633)ctC>ctT	p.L211L	RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000444031.2_Silent_p.L129L	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	211	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						CCCGGGACCGGAGATTGCGGA	0.662																																						ENST00000497454.1		NA																	0				breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						c.(631-633)ctC>ctT		ral guanine nucleotide dissociation stimulator-like 2							82.0	97.0	92.0					6																	33263940		2203	4300	6503	SO:0001819	synonymous_variant	5863				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr6:33263940G>A		CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"""RAB2, member RAS oncogene family-like"""	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.633C>T	6.37:g.33263940G>A		False	False		Somatic	0				RGL2_ENST00000444031.2_Silent_p.L129L|RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron	p.L211L	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	WXS	Illumina HiSeq	Phase_I	O15211	RGL2_HUMAN			6	1128	-			211			N-terminal Ras-GEF.		B4DG72|Q5STK0|Q9Y3F3	Silent	SNP	ENST00000497454.1	37	c.633C>T	CCDS4774.1																																																																																				0.662	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076098.2	0			6:33263940
AGXT	189	broad.mit.edu	37	2	241817502	241817502	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr2:241817502G>A	ENST00000307503.3	+	10	1393	c.1006G>A	c.(1006-1008)Gtc>Atc	p.V336I		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	336			V -> D (in HP1). {ECO:0000269|PubMed:15253729}.		cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process (GO:0042853)|L-cysteine catabolic process (GO:0019448)|oxalic acid secretion (GO:0046724)|pyruvate biosynthetic process (GO:0042866)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alanine-glyoxylate transaminase activity (GO:0008453)|amino acid binding (GO:0016597)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|receptor binding (GO:0005102)|serine-pyruvate transaminase activity (GO:0004760)|transaminase activity (GO:0008483)	p.V336I(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)	GAGAGACATCGTCAGCTACGT	0.617																																						ENST00000307503.3		NA																	1	Substitution - Missense(1)	p.V336I(1)	central_nervous_system(1)	central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18						c.(1006-1008)Gtc>Atc		alanine-glyoxylate aminotransferase	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						58.0	51.0	53.0					2																	241817502		2203	4300	6503	SO:0001583	missense	189				glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity	g.chr2:241817502G>A	D13368	CCDS2543.1	2q37.3	2008-02-05	2007-04-13		ENSG00000172482	ENSG00000172482	2.6.1.44, 2.6.1.51		341	protein-coding gene	gene with protein product	"""oxalosis I"", ""primary hyperoxaluria type 1"", ""L-alanine: glyoxylate aminotransferase 1"", ""serine:pyruvate aminotransferase"", ""glycolicaciduria"""	604285		SPAT		2039493, 2045108	Standard	NM_000030		Approved	AGXT1, PH1, AGT, SPT, AGT1	uc002waa.4	P21549	OTTHUMG00000133354	ENST00000307503.3:c.1006G>A	2.37:g.241817502G>A	ENSP00000302620:p.Val336Ile	False	False		Somatic	0					p.V336I	NM_000030.2	NP_000021.1	WXS	Illumina HiSeq	Phase_I	P21549	SPYA_HUMAN		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	10	1393	+		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	336		V -> D (in HP1).			Q53QU6	Missense_Mutation	SNP	ENST00000307503.3	37	c.1006G>A	CCDS2543.1	.	.	.	.	.	.	.	.	.	.	G	3.824	-0.037151	0.07497	.	.	ENSG00000172482	ENST00000307503	D	0.93547	-3.24	4.02	1.11	0.20524	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.923809	0.09133	N	0.844131	D	0.86460	0.5938	L	0.41573	1.285	0.09310	N	1	B;B	0.32338	0.365;0.109	B;B	0.22386	0.039;0.018	T	0.72487	-0.4278	10	0.19147	T	0.46	-28.2281	6.537	0.22359	0.4922:0.0:0.5077:0.0	.	214;336	Q9UJX1;P21549	.;SPYA_HUMAN	I	336	ENSP00000302620:V336I	ENSP00000302620:V336I	V	+	1	0	AGXT	241466175	0.000000	0.05858	0.445000	0.26908	0.097000	0.18754	0.572000	0.23684	0.294000	0.22547	0.563000	0.77884	GTC		0.617	AGXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257186.1	0	NM_000030		2:241817502
LILRA1	11024	broad.mit.edu	37	19	55107243	55107243	+	Silent	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:55107243G>A	ENST00000251372.3	+	6	983	c.801G>A	c.(799-801)caG>caA	p.Q267Q	LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000418536.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	267	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)	p.L268I(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		ACTTCCTCCAGCTCCCTGGCC	0.607																																						ENST00000251372.3		NA																	1	Substitution - Missense(1)	p.L268I(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47						c.(799-801)caG>caA		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1							106.0	104.0	104.0					19																	55107243		2203	4300	6503	SO:0001819	synonymous_variant	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55107243G>A	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.801G>A	19.37:g.55107243G>A		False	False		Somatic	0				LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000453777.1_Intron	p.Q267Q	NM_006863.1	NP_006854.1	WXS	Illumina HiSeq	Phase_I	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	6	983	+			267			Ig-like C2-type 3.		O75018|Q3MJA6	Silent	SNP	ENST00000251372.3	37	c.801G>A	CCDS12901.1																																																																																				0.607	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	0	NM_006863		19:55107243
PPP2R5C	5527	broad.mit.edu	37	14	102360847	102360847	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr14:102360847G>A	ENST00000334743.5	+	8	850	c.802G>A	c.(802-804)Gca>Aca	p.A268T	PPP2R5C_ENST00000445439.3_Missense_Mutation_p.A268T|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.A323T|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.A268T|PPP2R5C_ENST00000557095.1_Missense_Mutation_p.A268T|PPP2R5C_ENST00000422945.2_Missense_Mutation_p.A299T	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	268					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TTTTTAGCTGGCATACTGTGT	0.403																																						ENST00000422945.2		NA																	0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(895-897)Gca>Aca		protein phosphatase 2, regulatory subunit B', gamma							177.0	134.0	149.0					14																	102360847		2203	4300	6503	SO:0001583	missense	5527				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr14:102360847G>A	L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9311	protein-coding gene	gene with protein product		601645	"""protein phosphatase 2, regulatory subunit B (B56), gamma isoform"", ""protein phosphatase 2, regulatory subunit B', gamma isoform"""			7592815	Standard	NM_002719		Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000334743.5:c.802G>A	14.37:g.102360847G>A	ENSP00000333905:p.Ala268Thr	False	False		Somatic	0				PPP2R5C_ENST00000557095.1_Missense_Mutation_p.A268T|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.A268T|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.A268T|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.A323T|PPP2R5C_ENST00000334743.5_Missense_Mutation_p.A268T	p.A299T	NM_001161725.1	NP_001155197.1	WXS	Illumina HiSeq	Phase_I	Q13362	2A5G_HUMAN			10	991	+			268					B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Missense_Mutation	SNP	ENST00000334743.5	37	c.895G>A	CCDS9964.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593023	0.86953	.	.	ENSG00000078304	ENST00000422945;ENST00000328724;ENST00000557268;ENST00000350249;ENST00000334756;ENST00000445439;ENST00000334743;ENST00000557095;ENST00000557716	T;T;T;T;T	0.49720	0.78;0.77;0.77;0.83;0.78	5.63	5.63	0.86233	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56615	0.1997	L	0.59436	1.845	0.80722	D	1	P;B;P;P;B;P	0.45531	0.831;0.083;0.765;0.86;0.148;0.567	B;B;B;P;B;B	0.48063	0.429;0.122;0.252;0.565;0.074;0.443	T	0.57487	-0.7803	10	0.54805	T	0.06	-6.5997	19.6959	0.96026	0.0:0.0:1.0:0.0	.	299;166;268;268;268;323	F5GWP3;E9PHN5;Q13362-3;Q13362;Q13362-2;Q6ZN33	.;.;.;2A5G_HUMAN;.;.	T	299;323;297;268;166;268;268;268;64	ENSP00000412324:A299T;ENSP00000329009:A323T;ENSP00000450931:A297T;ENSP00000262239:A268T;ENSP00000333905:A268T	ENSP00000329009:A323T	A	+	1	0	PPP2R5C	101430600	1.000000	0.71417	0.999000	0.59377	0.799000	0.45148	9.694000	0.98686	2.659000	0.90383	0.650000	0.86243	GCA		0.403	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414373.2	0	NM_002719		14:102360847
CRIM1	51232	broad.mit.edu	37	2	36704145	36704145	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr2:36704145G>A	ENST00000280527.2	+	6	1472	c.1105G>A	c.(1105-1107)Gcc>Acc	p.A369T		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	369	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CTGCTTCACCGCCCAGTGTGG	0.483																																						ENST00000280527.2		NA																	0				autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(1105-1107)Gcc>Acc		cysteine rich transmembrane BMP regulator 1 (chordin-like)							125.0	111.0	116.0					2																	36704145		2203	4300	6503	SO:0001583	missense	51232				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	g.chr2:36704145G>A	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.1105G>A	2.37:g.36704145G>A	ENSP00000280527:p.Ala369Thr	True	False		Somatic	0					p.A369T	NM_016441.2	NP_057525.1	WXS	Illumina HiSeq	Phase_I	Q9NZV1	CRIM1_HUMAN			6	1472	+		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	369			VWFC 1.		Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	ENST00000280527.2	37	c.1105G>A	CCDS1783.1	.	.	.	.	.	.	.	.	.	.	G	32	5.175054	0.94807	.	.	ENSG00000150938	ENST00000280527	T	0.71579	-0.58	5.93	5.93	0.95920	von Willebrand factor, type C (4);	0.000000	0.85682	D	0.000000	T	0.72558	0.3475	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67169	-0.5738	10	0.14656	T	0.56	-18.4323	19.3421	0.94347	0.0:0.0:1.0:0.0	.	369	Q9NZV1	CRIM1_HUMAN	T	369	ENSP00000280527:A369T	ENSP00000280527:A369T	A	+	1	0	CRIM1	36557649	1.000000	0.71417	0.982000	0.44146	0.988000	0.76386	9.714000	0.98744	2.826000	0.97356	0.655000	0.94253	GCC		0.483	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	0	NM_016441		2:36704145
ANKRD35	148741	broad.mit.edu	37	1	145558485	145558485	+	Silent	SNP	C	C	T	rs377359716		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr1:145558485C>T	ENST00000355594.4	+	6	513	c.426C>T	c.(424-426)caC>caT	p.H142H	ANKRD35_ENST00000544626.1_Missense_Mutation_p.T123M	NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	142										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGTGTGACCACGAAGCCTTCC	0.542																																					Melanoma(9;127 754 22988 51047)	ENST00000544626.1		NA																	0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47						c.(367-369)aCg>aTg		ankyrin repeat domain 35							148.0	131.0	136.0					1																	145558485		2203	4300	6503	SO:0001819	synonymous_variant	148741							g.chr1:145558485C>T	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.426C>T	1.37:g.145558485C>T		False	False		Somatic	0				ANKRD35_ENST00000355594.4_Silent_p.H142H	p.T123M			WXS	Illumina HiSeq	Phase_I	Q8N283	ANR35_HUMAN			5	441	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		0					A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	c.368C>T	CCDS919.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326612	0.41197	.	.	ENSG00000198483	ENST00000544626	T	0.15603	2.41	5.09	-7.84	0.01196	.	.	.	.	.	T	0.11281	0.0275	.	.	.	0.19575	N	0.999965	.	.	.	.	.	.	T	0.14559	-1.0468	6	0.72032	D	0.01	-16.9738	16.3209	0.82951	0.0:0.2377:0.0:0.7623	.	.	.	.	M	123	ENSP00000442671:T123M	ENSP00000442671:T123M	T	+	2	0	ANKRD35	144269842	0.000000	0.05858	0.525000	0.27900	0.977000	0.68977	-4.830000	0.00180	-1.784000	0.01272	-0.768000	0.03414	ACG		0.542	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	0	NM_144698		1:145558485
CMTR1	23070	broad.mit.edu	37	6	37429865	37429865	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:37429865G>A	ENST00000373451.4	+	12	1476	c.1312G>A	c.(1312-1314)Gcc>Acc	p.A438T		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	438	RrmJ-type SAM-dependent 2'-O-MTase. {ECO:0000255|PROSITE-ProRule:PRU00945}.				7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)										CAGCCGTCCTGCCAACTCAGA	0.463																																						ENST00000373451.4		NA																	0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						c.(1312-1314)Gcc>Acc									149.0	141.0	143.0					6																	37429865		2203	4300	6503	SO:0001583	missense	0				mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding	g.chr6:37429865G>A	BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"""G patch domain containing"""	21077	protein-coding gene	gene with protein product			"""KIAA0082"", ""FtsJ methyltransferase domain containing 2"""	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.1312G>A	6.37:g.37429865G>A	ENSP00000362550:p.Ala438Thr	False	False		Somatic	0					p.A438T	NM_015050.2	NP_055865.1	WXS	Illumina HiSeq	Phase_I	Q8N1G2	MTR1_HUMAN			12	1476	+			438					A8K949|Q14670|Q96FJ9	Missense_Mutation	SNP	ENST00000373451.4	37	c.1312G>A	CCDS4835.1	.	.	.	.	.	.	.	.	.	.	G	36	5.806409	0.96967	.	.	ENSG00000137200	ENST00000373451	T	0.30714	1.52	5.85	5.85	0.93711	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.000000	0.85682	D	0.000000	T	0.54498	0.1862	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57004	-0.7885	10	0.66056	D	0.02	-21.0029	19.1516	0.93491	0.0:0.0:1.0:0.0	.	438	Q8N1G2	MTR1_HUMAN	T	438	ENSP00000362550:A438T	ENSP00000362550:A438T	A	+	1	0	FTSJD2	37537843	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.568000	0.98166	2.773000	0.95371	0.655000	0.94253	GCC		0.463	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040408.1	0	NM_015050		6:37429865
PABPC3	5042	broad.mit.edu	37	13	25671262	25671262	+	Missense_Mutation	SNP	G	G	A	rs554723791		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr13:25671262G>A	ENST00000281589.3	+	1	963	c.926G>A	c.(925-927)cGt>cAt	p.R309H		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	309	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GATGATGAACGTCTCCGGAAA	0.408													g|||	1	0.000199681	0.0	0.0	5008	,	,		22579	0.0		0.0	False		,,,				2504	0.001					ENST00000281589.3		NA																	0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(925-927)cGt>cAt		poly(A) binding protein, cytoplasmic 3							219.0	217.0	218.0					13																	25671262		2203	4300	6503	SO:0001583	missense	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671262G>A	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.926G>A	13.37:g.25671262G>A	ENSP00000281589:p.Arg309His	False	False		Somatic	0					p.R309H	NM_030979.2	NP_112241.2	WXS	Illumina HiSeq	Phase_I	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	963	+		Lung SC(185;0.0225)|Breast(139;0.0602)	309			RRM 4.		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	c.926G>A	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	8.903	0.956849	0.18507	.	.	ENSG00000151846	ENST00000281589	T	0.15952	2.38	0.875	-0.438	0.12268	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.135449	0.32473	N	0.006058	T	0.07007	0.0178	N	0.10685	0.025	0.50632	D	0.999884	P	0.43094	0.799	B	0.38985	0.287	T	0.30880	-0.9963	10	0.62326	D	0.03	.	6.1527	0.20320	0.0:0.3209:0.679:0.0	.	309	Q9H361	PABP3_HUMAN	H	309	ENSP00000281589:R309H	ENSP00000281589:R309H	R	+	2	0	PABPC3	24569262	1.000000	0.71417	0.851000	0.33527	0.226000	0.24999	3.068000	0.50018	-0.161000	0.10983	0.313000	0.20887	CGT		0.408	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	0	NM_030979		13:25671262
KCTD8	386617	broad.mit.edu	37	4	44177058	44177058	+	Missense_Mutation	SNP	G	G	A	rs549391615		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr4:44177058G>A	ENST00000360029.3	-	2	1454	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	391					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TTAGAGGGGCGATCCAATGTT	0.507										HNSCC(17;0.042)			G|||	1	0.000199681	0.0008	0.0	5008	,	,		16662	0.0		0.0	False		,,,				2504	0.0					ENST00000360029.3		NA																	0				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						c.(1171-1173)Cgc>Tgc		potassium channel tetramerization domain containing 8							165.0	164.0	164.0					4																	44177058		2203	4300	6503	SO:0001583	missense	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44177058G>A	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.1171C>T	4.37:g.44177058G>A	ENSP00000353129:p.Arg391Cys	False	False	HNSCC(17;0.042)	Somatic	0					p.R391C	NM_198353.2	NP_938167.1	WXS	Illumina HiSeq	Phase_I	Q6ZWB6	KCTD8_HUMAN			2	1454	-			391					A2RU39	Missense_Mutation	SNP	ENST00000360029.3	37	c.1171C>T	CCDS3467.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.768485	0.31320	.	.	ENSG00000183783	ENST00000360029	T	0.44083	0.93	4.56	3.68	0.42216	.	0.000000	0.46758	D	0.000275	T	0.50939	0.1645	L	0.36672	1.1	0.49582	D	0.999805	D	0.89917	1.0	D	0.64595	0.927	T	0.54655	-0.8261	10	0.87932	D	0	.	12.9862	0.58594	0.0:0.0:0.8317:0.1682	.	391	Q6ZWB6	KCTD8_HUMAN	C	391	ENSP00000353129:R391C	ENSP00000353129:R391C	R	-	1	0	KCTD8	43871815	1.000000	0.71417	0.995000	0.50966	0.196000	0.23810	3.014000	0.49590	1.202000	0.43218	0.650000	0.86243	CGC		0.507	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1	0			4:44177058
DAAM2	23500	broad.mit.edu	37	6	39845988	39845988	+	Silent	SNP	C	C	T	rs376008956		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:39845988C>T	ENST00000398904.2	+	12	1493	c.1311C>T	c.(1309-1311)aaC>aaT	p.N437N	DAAM2_ENST00000274867.4_Silent_p.N437N|DAAM2_ENST00000538976.1_Silent_p.N437N			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	437					actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GGCTCATCAACGAGAATGAAG	0.547																																						ENST00000538976.1		NA																	0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49						c.(1309-1311)aaC>aaT		dishevelled associated activator of morphogenesis 2		T	,	0,4166		0,0,2083	75.0	83.0	80.0		1311,1311	-1.8	1.0	6		80	1,8429		0,1,4214	no	coding-synonymous,coding-synonymous	DAAM2	NM_001201427.1,NM_015345.3	,	0,1,6297	TT,TC,CC		0.0119,0.0,0.0079	,	437/1069,437/1068	39845988	1,12595	2083	4215	6298	SO:0001819	synonymous_variant	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39845988C>T	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.1311C>T	6.37:g.39845988C>T		False	False		Somatic	0				DAAM2_ENST00000274867.4_Silent_p.N437N|DAAM2_ENST00000398904.2_Silent_p.N437N	p.N437N	NM_015345.3	NP_056160.2	WXS	Illumina HiSeq	Phase_I	Q86T65	DAAM2_HUMAN			12	1493	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		437					G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Silent	SNP	ENST00000398904.2	37	c.1311C>T	CCDS56426.1																																																																																				0.547	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1	0			6:39845988
