#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_IsAdjacentToRepeatRegion	i_IsMicroSat	i_MUTSIG_Published_Results	i_Mutation_Status	i_NumberOfSatRepeats	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_is_in_m2pon	i_refseq_mrna_id	i_secondary_variant_classification	i_site
RBM4	5936	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000409406.1	+	2	1633_1653	c.856_876delGCTGCTGCTGCAGCAGCAGCC	c.(856-876)gctgctgctgcagcagcagccdel	p.AAAAAAA286del	RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000396053.4_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM14-RBM4_ENST00000412278.2_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del			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_ENST00000506523.2_Intron|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000530235.1_Intron|RBM14-RBM4_ENST00000500635.2_Intron	p.AAAAAAA261del	NM_001198845.1	NP_001185774.1	WXS	Illumina HiSeq	Phase_I					2	876_896	+			NA					B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	In_Frame_Del	DEL	ENST00000409406.1	37	c.781_801delGCTGCTGCTGCAGCAGCAGCC	CCDS41676.1																																																																																				0.615	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	0	NM_002896		11:66411364
ZBTB4	57659	broad.mit.edu	37	17	7366346	7366348	+	In_Frame_Del	DEL	TCA	TCA	-	rs78260319|rs375158389	byFrequency	TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	TCA	TCA	-	-	TCA	TCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr17:7366346_7366348delTCA	ENST00000311403.4	-	4	2292_2294	c.1953_1955delTGA	c.(1951-1956)gatgag>gag	p.D651del	ZBTB4_ENST00000380599.4_In_Frame_Del_p.D651del	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	651	Glu-rich.				cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		TGATtcctcctcatcctcctcct	0.611																																						ENST00000311403.4		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36						c.(1951-1956)gatgag>gag		zinc finger and BTB domain containing 4			,	304,3960		11,282,1839					,	-1.8	0.2			53	244,8010		17,210,3900	no	coding,coding	ZBTB4	NM_020899.3,NM_001128833.1	,	28,492,5739	A1A1,A1R,RR		2.9561,7.1295,4.3777	,	,		548,11970				SO:0001651	inframe_deletion	57659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:7366346_7366348delTCA	AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.1953_1955delTGA	17.37:g.7366346_7366348delTCA	ENSP00000307858:p.Asp651del	False	False		Somatic	1				ZBTB4_ENST00000380599.4_In_Frame_Del_p.D651del	p.D651del	NM_020899.3	NP_065950.2	WXS	Illumina HiSeq	Phase_I	Q9P1Z0	ZBTB4_HUMAN		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)	4	2292_2294	-		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	651			Glu-rich.		B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	In_Frame_Del	DEL	ENST00000311403.4	37	c.1953_1955delTGA	CCDS11107.1																																																																																				0.611	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226940.2	0	NM_020899		17:7366346
TP53	7157	broad.mit.edu	37	17	7574003	7574003	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr17:7574003delG	ENST00000269305.4	-	10	1213	c.1024delC	c.(1024-1026)cgafs	p.R342fs	TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.R342fs|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron	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	342	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(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)	TTCAGCTCTCGGAACATCTCG	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)	ENST00000269305.4		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"""		89	Substitution - Nonsense(70)|Whole gene deletion(8)|Deletion - Frameshift(7)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)	p.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(1)	breast(16)|upper_aerodigestive_tract(11)|large_intestine(9)|central_nervous_system(9)|ovary(7)|lung(6)|skin(5)|liver(5)|haematopoietic_and_lymphoid_tissue(4)|pancreas(4)|bone(4)|stomach(2)|urinary_tract(2)|oesophagus(2)|kidney(1)|peritoneum(1)|endometrium(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	CM004908	TP53	M		c.(1024-1026)cgafs	Other conserved DNA damage response genes	tumor protein p53							62.0	48.0	53.0					17																	7574003		2203	4300	6503	SO:0001589	frameshift_variant	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.chr17:7574003delG	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.1024delC	17.37:g.7574003delG	ENSP00000269305:p.Arg342fs	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	2				TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000445888.2_Frame_Shift_Del_p.R342fs|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR	p.R342fs	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	WXS	Illumina HiSeq	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1213	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	342		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.1024delC	CCDS11118.1																																																																																				0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7574003
OR2T4	127074	broad.mit.edu	37	1	248525639	248525639	+	Frame_Shift_Del	DEL	A	A	-	rs34079073|rs76878172	byFrequency	TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr1:248525639delA	ENST00000366475.1	+	1	757	c.757delA	c.(757-759)atcfs	p.I253fs		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTATTTACTCATCCTCCTCAC	0.522													a|A|-|deletion	2010	0.401358	0.3389	0.4452	5008	,	,		21944	0.3393		0.4811	False		,,,				2504	0.4366					ENST00000366475.1		NA																	0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56						c.(757-759)atcfs		olfactory receptor, family 2, subfamily T, member 4				1560,2706		284,992,857	94.0	74.0	81.0			-2.8	0.0	1	dbSNP_126	132	4448,3806		1199,2050,878	no	frameshift	OR2T4	NM_001004696.1		1483,3042,1735	A1A1,A1R,RR		46.111,36.5682,47.9872			248525639	6008,6512	2024	3426	5450	SO:0001589	frameshift_variant	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525639delA	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.757delA	1.37:g.248525639delA	ENSP00000355431:p.Ile253fs	False	False		Somatic	1					p.I253fs	NM_001004696.1	NP_001004696.1	WXS	Illumina HiSeq	Phase_I	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	757	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		253					Q6IEZ8	Frame_Shift_Del	DEL	ENST00000366475.1	37	c.757delA	CCDS31113.1																																																																																				0.522	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	0	NM_001004696		1:248525639
C1QB	713	broad.mit.edu	37	1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	rs544508692|rs148813212		TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000314933.6	+	3	400_453	c.268_321delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(268-321)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP90del	C1QB_ENST00000509305.1_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP88del	NM_000491.3	NP_000482.3	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|inner ear development (GO:0048839)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618																																						ENST00000509305.1		NA																	0				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14						c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel		complement component 1, q subcomponent, B chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)																																			SO:0001651	inframe_deletion	713				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	X03084	CCDS228.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173369	ENSG00000173369		"""Complement system"""	1242	protein-coding gene	gene with protein product		120570	"""complement component 1, q subcomponent, beta polypeptide"""			1537612	Standard	XM_005245982		Approved		uc001bgd.3	P02746	OTTHUMG00000002896	ENST00000314933.6:c.268_321delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	1.37:g.22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENSP00000313967:p.Gly90_Pro107del	True	False		Somatic	1				C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del	p.GPKGPMGPKGGPGAPGAP88del			WXS	Illumina HiSeq	Phase_I	P02746	C1QB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	3	608_661	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	90			Collagen-like 2.		Q5T959|Q96H17	In_Frame_Del	DEL	ENST00000314933.6	37	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	CCDS228.1																																																																																				0.618	C1QB-201	KNOWN	basic|CCDS	protein_coding	protein_coding		0	NM_000491		1:22987385
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212|rs368069269	byFrequency	TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433																																						ENST00000379834.2		NA																	1	Substitution - Missense(1)	p.D57G(1)	large_intestine(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(190-192)gacdel		RIO kinase 1																																				SO:0001651	inframe_deletion	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7393450_7393452delGAC	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"""RIO kinase 1 (yeast)"""				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.190_192delGAC	6.37:g.7393450_7393452delGAC	ENSP00000369162:p.Asp69del	False	False		Somatic	1					p.D69del	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	WXS	Illumina HiSeq	Phase_I	Q9BRS2	RIOK1_HUMAN			2	697_699	+	Ovarian(93;0.0418)		69					B2RB28|Q8NDC8|Q96NV9	In_Frame_Del	DEL	ENST00000379834.2	37	c.190_192delGAC	CCDS4500.1																																																																																				0.433	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	0	NM_031480		6:7393450
OR8U1	219417	broad.mit.edu	37	11	56143815	56143815	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr11:56143815C>T	ENST00000302270.1	+	1	716	c.716C>T	c.(715-717)tCg>tTg	p.S239L		NM_001005204.1	NP_001005204.1	Q8NH10	OR8U1_HUMAN	olfactory receptor, family 8, subfamily U, member 1	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					AAGGCTTTCTCGACGTGTGGC	0.473																																						ENST00000302270.1		NA																	0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39						c.(715-717)tCg>tTg		olfactory receptor, family 8, subfamily U, member 1							121.0	123.0	123.0					11																	56143815		2060	4238	6298	SO:0001583	missense	219417							g.chr11:56143815C>T	AB065603	CCDS41647.1	11q11	2012-08-09			ENSG00000172199	ENSG00000172199		"""GPCR / Class A : Olfactory receptors"""	19611	protein-coding gene	gene with protein product							Standard	NM_001005204		Approved			Q8NH10	OTTHUMG00000166860	ENST00000302270.1:c.716C>T	11.37:g.56143815C>T	ENSP00000304188:p.Ser239Leu	False	False		Somatic	0					p.S239L	NM_001005204.1	NP_001005204.1	WXS	Illumina HiSeq	Phase_I					1	716	+	Esophageal squamous(21;0.00448)		NA						Missense_Mutation	SNP	ENST00000302270.1	37	c.716C>T	CCDS41647.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082460	0.36758	.	.	ENSG00000172199	ENST00000302270	T	0.00305	8.18	5.69	4.78	0.61160	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000211	T	0.00724	0.0024	H	0.98426	4.23	0.28861	N	0.895524	P	0.40970	0.734	B	0.43301	0.415	T	0.01130	-1.1442	10	0.87932	D	0	.	14.6443	0.68748	0.0:0.9301:0.0:0.0699	.	239	Q8NH10	OR8U1_HUMAN	L	239	ENSP00000304188:S239L	ENSP00000304188:S239L	S	+	2	0	OR8U1	55900391	0.001000	0.12720	0.988000	0.46212	0.001000	0.01503	1.166000	0.31834	1.425000	0.47237	-0.245000	0.11935	TCG		0.473	OR8U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391607.1	0	NM_001005204		11:56143815
ATG2A	23130	broad.mit.edu	37	11	64678283	64678283	+	Missense_Mutation	SNP	G	G	A	rs369749777		TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr11:64678283G>A	ENST00000377264.3	-	11	1722	c.1610C>T	c.(1609-1611)aCg>aTg	p.T537M	ATG2A_ENST00000421419.2_Missense_Mutation_p.T537M	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	537					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CCTCACCTCCGTGTACTCAGG	0.677																																						ENST00000421419.2		NA																	0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(1609-1611)aCg>aTg		autophagy related 2A		G	MET/THR	1,4397	2.1+/-5.4	0,1,2198	33.0	39.0	37.0		1610	5.1	1.0	11		37	0,8588		0,0,4294	no	missense	ATG2A	NM_015104.2	81	0,1,6492	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	537/1939	64678283	1,12985	2199	4294	6493	SO:0001583	missense	23130						protein binding	g.chr11:64678283G>A		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.1610C>T	11.37:g.64678283G>A	ENSP00000366475:p.Thr537Met	False	False		Somatic	0				ATG2A_ENST00000377264.3_Missense_Mutation_p.T537M	p.T537M			WXS	Illumina HiSeq	Phase_I	Q2TAZ0	ATG2A_HUMAN			11	1724	-			537					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.1610C>T	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522125	0.64747	2.27E-4	0.0	ENSG00000110046	ENST00000421419;ENST00000377264	T;T	0.08984	3.03;3.03	5.11	5.11	0.69529	.	0.190202	0.41097	D	0.000944	T	0.09774	0.0240	L	0.50333	1.59	0.34319	D	0.68634	P	0.48350	0.909	B	0.38327	0.271	T	0.14643	-1.0465	10	0.66056	D	0.02	.	14.4207	0.67180	0.0:0.0:1.0:0.0	.	537	Q2TAZ0	ATG2A_HUMAN	M	537	ENSP00000410522:T537M;ENSP00000366475:T537M	ENSP00000366475:T537M	T	-	2	0	ATG2A	64434859	0.993000	0.37304	0.964000	0.40570	0.697000	0.40408	2.162000	0.42367	2.550000	0.86006	0.462000	0.41574	ACG		0.677	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	0	NM_015104		11:64678283
CDH9	1007	broad.mit.edu	37	5	26889954	26889954	+	Silent	SNP	T	T	C			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr5:26889954T>C	ENST00000231021.4	-	9	1675	c.1503A>G	c.(1501-1503)aaA>aaG	p.K501K		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	501	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CCTGCCCAGGTTTTGCATTTT	0.308																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4		NA																	0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(1501-1503)aaA>aaG		cadherin 9, type 2 (T1-cadherin)							77.0	79.0	79.0					5																	26889954		2203	4300	6503	SO:0001819	synonymous_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26889954T>C	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1503A>G	5.37:g.26889954T>C		True	False		Somatic	0					p.K501K	NM_016279.3	NP_057363.3	WXS	Illumina HiSeq	Phase_I	Q9ULB4	CADH9_HUMAN			9	1675	-			501			Cadherin 5.		Q3B7I5	Silent	SNP	ENST00000231021.4	37	c.1503A>G	CCDS3893.1																																																																																				0.308	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	0	NM_016279		5:26889954
TUFT1	7286	broad.mit.edu	37	1	151552137	151552137	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr1:151552137A>G	ENST00000368849.3	+	11	999	c.937A>G	c.(937-939)Aaa>Gaa	p.K313E	TUFT1_ENST00000368848.2_Missense_Mutation_p.K288E|TUFT1_ENST00000392712.3_Missense_Mutation_p.K258E|TUFT1_ENST00000353024.3_Missense_Mutation_p.K254E|TUFT1_ENST00000538902.1_Missense_Mutation_p.K332E	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	313					bone mineralization (GO:0030282)|odontogenesis (GO:0042476)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	structural constituent of tooth enamel (GO:0030345)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCAGAATTCAAAAGCTGTGAT	0.547																																						ENST00000368849.3		NA																	0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13						c.(937-939)Aaa>Gaa		tuftelin 1							58.0	53.0	54.0					1																	151552137		2203	4300	6503	SO:0001583	missense	7286				bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel	g.chr1:151552137A>G	AF254260	CCDS1000.1, CCDS44223.1	1q21	2008-02-05			ENSG00000143367	ENSG00000143367			12422	protein-coding gene	gene with protein product		600087				7919663	Standard	NM_020127		Approved		uc001eyl.3	Q9NNX1	OTTHUMG00000012536	ENST00000368849.3:c.937A>G	1.37:g.151552137A>G	ENSP00000357842:p.Lys313Glu	True	False		Somatic	0				TUFT1_ENST00000353024.3_Missense_Mutation_p.K254E|TUFT1_ENST00000538902.1_Missense_Mutation_p.K332E|TUFT1_ENST00000368848.2_Missense_Mutation_p.K288E|TUFT1_ENST00000392712.3_Missense_Mutation_p.K258E	p.K313E	NM_020127.2	NP_064512.1	WXS	Illumina HiSeq	Phase_I	Q9NNX1	TUFT1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		11	999	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		313					B2RD57|D3DV21|D3DV22|Q5T384|Q5T385|Q9BU28|Q9H5L1	Missense_Mutation	SNP	ENST00000368849.3	37	c.937A>G	CCDS1000.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.553081	0.86127	.	.	ENSG00000143367	ENST00000368849;ENST00000392712;ENST00000353024;ENST00000368848;ENST00000538902	T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43	6.02	6.02	0.97574	.	0.050570	0.85682	D	0.000000	T	0.74921	0.3780	M	0.71581	2.175	0.35617	D	0.809083	D;D;D	0.89917	0.999;1.0;0.997	D;D;D	0.91635	0.997;0.999;0.984	T	0.76710	-0.2859	10	0.37606	T	0.19	-22.6669	14.4941	0.67674	1.0:0.0:0.0:0.0	.	332;288;313	F5H607;Q9NNX1-2;Q9NNX1	.;.;TUFT1_HUMAN	E	313;258;254;288;332	ENSP00000357842:K313E;ENSP00000376476:K258E;ENSP00000343781:K254E;ENSP00000357841:K288E;ENSP00000437997:K332E	ENSP00000343781:K254E	K	+	1	0	TUFT1	149818761	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.020000	0.70826	2.304000	0.77564	0.528000	0.53228	AAA		0.547	TUFT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035022.1	0	NM_020127		1:151552137
ARHGAP6	395	broad.mit.edu	37	X	11187680	11187680	+	Missense_Mutation	SNP	G	G	A	rs376590462		TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chrX:11187680G>A	ENST00000337414.4	-	9	2626	c.1754C>T	c.(1753-1755)aCg>aTg	p.T585M	ARHGAP6_ENST00000380732.3_Missense_Mutation_p.T617M|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.T382M|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.T410M|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.T394M|ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.T382M|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.T585M	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	585	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GATGATGGCCGTGCTCTCCTC	0.483																																						ENST00000337414.4		NA																	0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1753-1755)aCg>aTg		Rho GTPase activating protein 6		G	MET/THR,MET/THR,MET/THR	1,3834		0,1,1631,571	167.0	129.0	142.0		1754,1145,1754	5.6	1.0	X		142	0,6728		0,0,2428,1872	no	missense,missense,missense	ARHGAP6	NM_006125.2,NM_013423.2,NM_013427.2	81,81,81	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	probably-damaging,probably-damaging,probably-damaging	585/766,382/772,585/975	11187680	1,10562	2203	4300	6503	SO:0001583	missense	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11187680G>A	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.1754C>T	X.37:g.11187680G>A	ENSP00000338967:p.Thr585Met	False	False		Somatic	0				ARHGAP6_ENST00000303025.6_Missense_Mutation_p.T382M|ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.T410M|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.T382M|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.T617M|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.T585M|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.T394M	p.T585M	NM_013427.2	NP_038286.2	WXS	Illumina HiSeq	Phase_I	O43182	RHG06_HUMAN			9	2626	-			585			Rho-GAP.		B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	ENST00000337414.4	37	c.1754C>T	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622793	0.66787	2.61E-4	0.0	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718;ENST00000413512;ENST00000380732	T;T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.57	5.57	0.84162	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.000000	0.53938	D	0.000044	T	0.55641	0.1933	L	0.45051	1.395	0.58432	D	0.999995	D;D;D;D;D	0.89917	0.999;0.996;1.0;0.998;1.0	P;P;D;D;D	0.69824	0.791;0.813;0.966;0.917;0.964	T	0.55829	-0.8079	10	0.54805	T	0.06	.	14.2504	0.66016	0.0:0.0:0.8507:0.1493	.	394;382;585;585;585	B7Z8H7;O43182-5;O43182-2;O43182;A8KAL3	.;.;.;RHG06_HUMAN;.	M	410;382;382;585;421;585;394;617	ENSP00000438135:T410M;ENSP00000370112:T382M;ENSP00000302312:T382M;ENSP00000338967:T585M;ENSP00000370093:T421M;ENSP00000370094:T585M;ENSP00000389394:T394M;ENSP00000370108:T617M	ENSP00000302312:T382M	T	-	2	0	ARHGAP6	11097601	1.000000	0.71417	0.975000	0.42487	0.717000	0.41224	6.141000	0.71744	2.344000	0.79699	0.544000	0.68410	ACG		0.483	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	0	NM_013427		X:11187680
TTBK1	84630	broad.mit.edu	37	6	43251409	43251409	+	Silent	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr6:43251409G>A	ENST00000259750.4	+	14	3014	c.2931G>A	c.(2929-2931)gcG>gcA	p.A977A		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	977					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GGGCCCGAGCGCCCCTGGAGA	0.697																																						ENST00000259750.4		NA																	0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(2929-2931)gcG>gcA		tau tubulin kinase 1							21.0	26.0	24.0					6																	43251409		2200	4296	6496	SO:0001819	synonymous_variant	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43251409G>A	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.2931G>A	6.37:g.43251409G>A		True	False		Somatic	0					p.A977A	NM_032538.1	NP_115927.1	WXS	Illumina HiSeq	Phase_I	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		14	3014	+			977					A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Silent	SNP	ENST00000259750.4	37	c.2931G>A	CCDS34455.1																																																																																				0.697	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3	0			6:43251409
B3GALT1	8708	broad.mit.edu	37	2	168726199	168726199	+	Missense_Mutation	SNP	G	G	A	rs148250645	byFrequency	TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr2:168726199G>A	ENST00000392690.3	+	1	742	c.650G>A	c.(649-651)cGc>cAc	p.R217H	AC016723.4_ENST00000436982.2_RNA|B3GALT1_ENST00000305861.1_Missense_Mutation_p.R217H|AC016723.4_ENST00000430546.1_RNA			Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	217					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						CGGGATGTCCGCAGTAAGTGG	0.453													G|||	4	0.000798722	0.0	0.0	5008	,	,		21143	0.004		0.0	False		,,,				2504	0.0					ENST00000392690.3		NA																	0				cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(649-651)cGc>cAc		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1		G	HIS/ARG	0,4406		0,0,2203	104.0	102.0	103.0		650	5.1	1.0	2	dbSNP_134	103	1,8599	1.2+/-3.3	0,1,4299	yes	missense	B3GALT1	NM_020981.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	217/327	168726199	1,13005	2203	4300	6503	SO:0001583	missense	8708				lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr2:168726199G>A	E07739	CCDS2227.1	2q24.3	2013-02-19			ENSG00000172318	ENSG00000172318		"""Beta 3-glycosyltransferases"""	916	protein-coding gene	gene with protein product		603093				9582303	Standard	NM_020981		Approved	beta3Gal-T1	uc002udz.1	Q9Y5Z6	OTTHUMG00000132163	ENST00000392690.3:c.650G>A	2.37:g.168726199G>A	ENSP00000376456:p.Arg217His	False	False		Somatic	0				AC016723.4_ENST00000436982.2_RNA|AC016723.4_ENST00000430546.1_RNA|B3GALT1_ENST00000305861.1_Missense_Mutation_p.R217H	p.R217H			WXS	Illumina HiSeq	Phase_I	Q9Y5Z6	B3GT1_HUMAN			1	742	+			NA					D3DPB8|Q53SS2	Missense_Mutation	SNP	ENST00000392690.3	37	c.650G>A	CCDS2227.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	13.23	2.174355	0.38413	0.0	1.16E-4	ENSG00000172318	ENST00000305861;ENST00000392690	D;D	0.85258	-1.96;-1.96	6.02	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.78342	0.4268	L	0.28274	0.84	0.58432	D	0.99999	B	0.20671	0.047	B	0.19946	0.027	T	0.72827	-0.4175	10	0.39692	T	0.17	-16.8954	16.7521	0.85488	0.0:0.0:0.8704:0.1295	.	217	Q9Y5Z6	B3GT1_HUMAN	H	217	ENSP00000303740:R217H;ENSP00000376456:R217H	ENSP00000303740:R217H	R	+	2	0	B3GALT1	168434445	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.976000	0.88070	2.865000	0.98341	0.655000	0.94253	CGC		0.453	B3GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255211.2	0	NM_020981		2:168726199
IL34	146433	broad.mit.edu	37	16	70688501	70688501	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr16:70688501C>T	ENST00000288098.2	+	2	472	c.89C>T	c.(88-90)aCg>aTg	p.T30M	IL34_ENST00000569641.1_Intron|IL34_ENST00000566361.1_Missense_Mutation_p.T5M|IL34_ENST00000429149.2_Missense_Mutation_p.T30M	NM_001172772.1	NP_001166243.1	Q6ZMJ4	IL34_HUMAN	interleukin 34	30					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	extracellular space (GO:0005615)	macrophage colony-stimulating factor receptor binding (GO:0005157)			breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						TGGCCCTTGACGCAGAATGAG	0.572											OREG0023916	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000429149.2		NA																	0				breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						c.(88-90)aCg>aTg		interleukin 34							328.0	229.0	263.0					16																	70688501		2198	4300	6498	SO:0001583	missense	146433				positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding	g.chr16:70688501C>T	BC029804	CCDS10895.1	16q22.1	2008-08-01	2008-06-04	2008-06-04	ENSG00000157368	ENSG00000157368		"""Interleukins and interleukin receptors"""	28529	protein-coding gene	gene with protein product		612081	"""chromosome 16 open reading frame 77"""	C16orf77		18467591	Standard	NM_152456		Approved	MGC34647, IL-34	uc002ezh.2	Q6ZMJ4	OTTHUMG00000137581	ENST00000288098.2:c.89C>T	16.37:g.70688501C>T	ENSP00000288098:p.Thr30Met	False	False		Somatic	0	OREG0023916	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1124	IL34_ENST00000566361.1_Missense_Mutation_p.T5M|IL34_ENST00000288098.2_Missense_Mutation_p.T30M|IL34_ENST00000569641.1_Intron	p.T30M	NM_001172771.1|NM_152456.2	NP_001166242.1|NP_689669.2	WXS	Illumina HiSeq	Phase_I	Q6ZMJ4	IL34_HUMAN			3	644	+			30					B2RC28|B2Z4A8|B2ZC70|Q8N6L2	Missense_Mutation	SNP	ENST00000288098.2	37	c.89C>T	CCDS10895.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.509704	0.27036	.	.	ENSG00000157368	ENST00000429149;ENST00000288098	T;T	0.49432	0.78;0.78	4.32	3.32	0.38043	.	0.568429	0.15866	N	0.240758	T	0.61515	0.2353	M	0.70595	2.14	0.09310	N	1	D;D	0.89917	1.0;1.0	P;P	0.60886	0.88;0.88	T	0.51434	-0.8706	10	0.66056	D	0.02	-11.2702	10.7643	0.46283	0.1886:0.8114:0.0:0.0	.	30;30	Q6ZMJ4-2;Q6ZMJ4	.;IL34_HUMAN	M	30	ENSP00000397863:T30M;ENSP00000288098:T30M	ENSP00000288098:T30M	T	+	2	0	IL34	69246002	0.002000	0.14202	0.051000	0.19133	0.015000	0.08874	1.190000	0.32126	2.258000	0.74832	0.456000	0.33151	ACG		0.572	IL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268971.3	0	NM_152456		16:70688501
NCKAP5	344148	broad.mit.edu	37	2	133542913	133542913	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr2:133542913C>A	ENST00000409261.1	-	14	1844	c.1471G>T	c.(1471-1473)Gtt>Ttt	p.V491F	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.V491F|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	491										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGGTTTGGAACTGCTTGGAGC	0.502																																						ENST00000409261.1		NA																	0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(1471-1473)Gtt>Ttt		NCK-associated protein 5							118.0	119.0	118.0					2																	133542913		2017	4198	6215	SO:0001583	missense	344148						protein binding	g.chr2:133542913C>A	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.1471G>T	2.37:g.133542913C>A	ENSP00000387128:p.Val491Phe	False	False		Somatic	0				NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.V491F|NCKAP5_ENST00000405974.3_Intron	p.V491F	NM_207363.2	NP_997246.2	WXS	Illumina HiSeq	Phase_I	O14513	NCKP5_HUMAN			14	1844	-			491					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.1471G>T	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	c	2.579	-0.297922	0.05532	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.12039	2.72;2.72	5.11	-3.94	0.04130	.	1.465370	0.05533	U	0.564360	T	0.07593	0.0191	N	0.19112	0.55	0.09310	N	1	B	0.18610	0.029	B	0.16289	0.015	T	0.40040	-0.9584	10	0.66056	D	0.02	.	2.5501	0.04747	0.1056:0.2809:0.3501:0.2633	.	491	O14513	NCKP5_HUMAN	F	491	ENSP00000387128:V491F;ENSP00000380603:V491F	ENSP00000380603:V491F	V	-	1	0	NCKAP5	133259383	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.038000	0.12144	-0.609000	0.05724	-0.162000	0.13425	GTT		0.502	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	0	NM_207481		2:133542913
KLHL5	51088	broad.mit.edu	37	4	39083623	39083623	+	Missense_Mutation	SNP	A	A	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr4:39083623A>T	ENST00000504108.1	+	4	1165	c.882A>T	c.(880-882)ttA>ttT	p.L294F	KLHL5_ENST00000359687.2_Missense_Mutation_p.L294F|KLHL5_ENST00000508137.2_Missense_Mutation_p.L107F|KLHL5_ENST00000261425.3_Missense_Mutation_p.L248F|KLHL5_ENST00000261426.5_Missense_Mutation_p.L233F|KLHL5_ENST00000381930.3_Missense_Mutation_p.L294F	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	294						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						AGTGCCTGTTATCTACAGCTT	0.343																																						ENST00000261425.3		NA																	0				endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(742-744)ttA>ttT		kelch-like family member 5							119.0	111.0	114.0					4																	39083623		2203	4300	6503	SO:0001583	missense	51088					cytoplasm|cytoskeleton	actin binding	g.chr4:39083623A>T	AF272976	CCDS3449.1, CCDS33974.1, CCDS33975.1, CCDS54756.1	4p15.1	2013-01-30	2013-01-30		ENSG00000109790	ENSG00000109790		"""Kelch-like"", ""BTB/POZ domain containing"""	6356	protein-coding gene	gene with protein product		608064	"""kelch (Drosophila)-like 5"", ""kelch-like 5 (Drosophila)"""			11590829, 14672410	Standard	NM_001007075		Approved		uc003gtp.3	Q96PQ7	OTTHUMG00000097819	ENST00000504108.1:c.882A>T	4.37:g.39083623A>T	ENSP00000423897:p.Leu294Phe	False	False		Somatic	0				KLHL5_ENST00000381930.3_Missense_Mutation_p.L294F|KLHL5_ENST00000504108.1_Missense_Mutation_p.L294F|KLHL5_ENST00000261426.5_Missense_Mutation_p.L233F|KLHL5_ENST00000508137.2_Missense_Mutation_p.L107F|KLHL5_ENST00000359687.2_Missense_Mutation_p.L294F	p.L248F	NM_001007075.2	NP_001007076.1	WXS	Illumina HiSeq	Phase_I	Q96PQ7	KLHL5_HUMAN			5	896	+			294			BTB.		A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Missense_Mutation	SNP	ENST00000504108.1	37	c.744A>T	CCDS33974.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.046001	0.75846	.	.	ENSG00000109790	ENST00000544221;ENST00000261425;ENST00000508137;ENST00000504108;ENST00000359687;ENST00000381930;ENST00000261426	T;T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46;-1.46	5.45	-3.8	0.04307	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.86961	0.6059	M	0.80616	2.505	0.58432	D	0.999998	D;D;D	0.89917	0.985;1.0;1.0	P;D;D	0.87578	0.868;0.998;0.996	D	0.85649	0.1281	10	0.87932	D	0	.	12.1229	0.53902	0.267:0.1183:0.6147:0.0	.	233;294;294	F8WAE7;Q96PQ7;Q96PQ7-2	.;KLHL5_HUMAN;.	F	328;248;107;294;294;294;233	ENSP00000261425:L248F;ENSP00000423080:L107F;ENSP00000423897:L294F;ENSP00000352716:L294F;ENSP00000371355:L294F;ENSP00000261426:L233F	ENSP00000261425:L248F	L	+	3	2	KLHL5	38760018	0.997000	0.39634	0.918000	0.36340	0.982000	0.71751	0.453000	0.21811	-0.821000	0.04312	-0.561000	0.04177	TTA		0.343	KLHL5-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360604.1	0			4:39083623
LRIT3	345193	broad.mit.edu	37	4	110791281	110791281	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr4:110791281G>A	ENST00000594814.1	+	4	1376	c.1376G>A	c.(1375-1377)aGt>aAt	p.S459N	LRIT3_ENST00000409621.2_Missense_Mutation_p.S276N|LRIT3_ENST00000327908.3_Missense_Mutation_p.S276N|LRIT3_ENST00000379920.3_Missense_Mutation_p.S414N	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	459					regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		AAGAATGGAAGTAAGCTTCCT	0.468																																						ENST00000327908.3		NA																	0				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16						c.(826-828)aGt>aAt		leucine-rich repeat, immunoglobulin-like and transmembrane domains 3							69.0	70.0	69.0					4																	110791281		2203	4300	6503	SO:0001583	missense	345193					integral to membrane		g.chr4:110791281G>A	AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"""Immunoglobulin superfamily / I-set domain containing"""	24783	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 4"""	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.1376G>A	4.37:g.110791281G>A	ENSP00000469759:p.Ser459Asn	False	False		Somatic	0				LRIT3_ENST00000409621.2_Missense_Mutation_p.S276N|LRIT3_ENST00000379920.3_Missense_Mutation_p.S414N|LRIT3_ENST00000594814.1_Missense_Mutation_p.S459N	p.S276N			WXS	Illumina HiSeq	Phase_I	Q3SXY7	LRIT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0011)	4	1591	+			414			Ig-like.		C9J1C2|Q6ZTG1	Missense_Mutation	SNP	ENST00000594814.1	37	c.827G>A	CCDS3688.3	.	.	.	.	.	.	.	.	.	.	G	0.339	-0.951342	0.02285	.	.	ENSG00000183423	ENST00000327908;ENST00000379920;ENST00000409621	T;T;T	0.58358	0.34;0.52;0.34	5.06	0.19	0.15125	.	0.885835	0.09711	N	0.765695	T	0.31009	0.0783	N	0.24115	0.695	0.09310	N	1	B;B	0.13594	0.001;0.008	B;B	0.12156	0.001;0.007	T	0.22836	-1.0205	10	0.13470	T	0.59	.	4.3391	0.11101	0.4444:0.1716:0.384:0.0	.	414;276	Q3SXY7;Q3SXY7-2	LRIT3_HUMAN;.	N	276;414;276	ENSP00000328222:S276N;ENSP00000369252:S414N;ENSP00000386734:S276N	ENSP00000328222:S276N	S	+	2	0	LRIT3	111010730	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	0.091000	0.15046	0.160000	0.19432	-0.123000	0.14984	AGT		0.468	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335270.2	0	NM_198506		4:110791281
ZGRF1	55345	broad.mit.edu	37	4	113511003	113511003	+	Missense_Mutation	SNP	T	T	A	rs375347159		TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr4:113511003T>A	ENST00000505019.1	-	11	3129	c.3004A>T	c.(3004-3006)Aca>Tca	p.T1002S	C4orf21_ENST00000309071.5_Missense_Mutation_p.T1002S	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1002						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GGGCTCAATGTAGAGATGTTT	0.358																																						ENST00000505019.1		NA																	0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(3004-3006)Aca>Tca		chromosome 4 open reading frame 21							58.0	59.0	59.0					4																	113511003		2203	4300	6503	SO:0001583	missense	55345							g.chr4:113511003T>A																												ENST00000505019.1:c.3004A>T	4.37:g.113511003T>A	ENSP00000424737:p.Thr1002Ser	False	False		Somatic	0				C4orf21_ENST00000309071.5_Missense_Mutation_p.T1002S	p.T1002S	NM_018392.4	NP_060862.3	WXS	Illumina HiSeq	Phase_I	Q86YA3	CD021_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	11	3129	-		Ovarian(17;0.156)	1002					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.3004A>T		.	.	.	.	.	.	.	.	.	.	T	8.042	0.764003	0.15914	.	.	ENSG00000138658	ENST00000505019;ENST00000309071	D;T	0.82984	-1.67;1.92	5.23	1.42	0.22433	.	0.154469	0.30584	N	0.009308	T	0.81283	0.4790	L	0.57536	1.79	0.23298	N	0.997957	D;P	0.52996	0.957;0.95	P;P	0.52856	0.711;0.684	T	0.70044	-0.4980	10	0.20046	T	0.44	-3.4573	6.8286	0.23897	0.0:0.2906:0.0:0.7094	.	1002;1002	Q86YA3;G5EA02	CD021_HUMAN;.	S	1002	ENSP00000424737:T1002S;ENSP00000309095:T1002S	ENSP00000309095:T1002S	T	-	1	0	C4orf21	113730452	0.001000	0.12720	0.002000	0.10522	0.064000	0.16182	-0.294000	0.08309	0.073000	0.16731	0.477000	0.44152	ACA		0.358	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1	0			4:113511003
CAPZA1	829	broad.mit.edu	37	1	113162485	113162485	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr1:113162485C>T	ENST00000263168.3	+	1	691	c.19C>T	c.(19-21)Cgt>Tgt	p.R7C	ST7L_ENST00000369669.1_5'Flank|ST7L_ENST00000369666.1_5'Flank|ST7L_ENST00000544629.1_5'Flank|CAPZA1_ENST00000476936.1_3'UTR|ST7L_ENST00000490067.1_5'Flank|ST7L_ENST00000538187.1_5'Flank|ST7L_ENST00000360743.4_5'Flank|ST7L_ENST00000463235.1_Intron|ST7L_ENST00000369668.2_5'Flank|ST7L_ENST00000343210.7_5'Flank|ST7L_ENST00000358039.4_5'Flank|ST7L_ENST00000543570.1_5'Flank	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN	capping protein (actin filament) muscle Z-line, alpha 1	7					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|WASH complex (GO:0071203)	actin binding (GO:0003779)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTCGATGATCGTGTGTCGGA	0.667																																						ENST00000263168.3		NA																	0				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9						c.(19-21)Cgt>Tgt		capping protein (actin filament) muscle Z-line, alpha 1							41.0	33.0	36.0					1																	113162485		2203	4300	6503	SO:0001583	missense	829				actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex|WASH complex	actin binding	g.chr1:113162485C>T	U56637	CCDS30805.1	1p13.2	2014-05-09			ENSG00000116489	ENSG00000116489			1488	protein-coding gene	gene with protein product		601580				7665558, 9119363	Standard	NM_006135		Approved		uc001ecj.1	P52907	OTTHUMG00000011769	ENST00000263168.3:c.19C>T	1.37:g.113162485C>T	ENSP00000263168:p.Arg7Cys	True	False		Somatic	0				ST7L_ENST00000463235.1_Intron|CAPZA1_ENST00000476936.1_3'UTR	p.R7C	NM_006135.2	NP_006126.1	WXS	Illumina HiSeq	Phase_I	P52907	CAZA1_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	691	+	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	7					Q53FQ6|Q6FHD5	Missense_Mutation	SNP	ENST00000263168.3	37	c.19C>T	CCDS30805.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310470	0.81358	.	.	ENSG00000116489	ENST00000263168	.	.	.	6.17	6.17	0.99709	.	0.195980	0.45361	D	0.000364	T	0.56171	0.1967	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.67900	0.954	T	0.59968	-0.7354	9	0.56958	D	0.05	-3.1307	17.7962	0.88572	0.0:1.0:0.0:0.0	.	7	P52907	CAZA1_HUMAN	C	7	.	ENSP00000263168:R7C	R	+	1	0	CAPZA1	112964008	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.595000	0.61048	2.941000	0.99782	0.655000	0.94253	CGT		0.667	CAPZA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032567.2	0	NM_006135		1:113162485
VWF	7450	broad.mit.edu	37	12	6080794	6080794	+	Missense_Mutation	SNP	G	G	A	rs368286307	byFrequency	TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr12:6080794G>A	ENST00000261405.5	-	44	7773	c.7519C>T	c.(7519-7521)Cgg>Tgg	p.R2507W		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2507					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GAGTCCCCCCGCGGTGAGCCA	0.612													G|||	2	0.000399361	0.0	0.0	5008	,	,		17656	0.0		0.0	False		,,,				2504	0.002					ENST00000261405.5		NA																	0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(7519-7521)Cgg>Tgg		von Willebrand factor	Antihemophilic Factor(DB00025)						77.0	75.0	75.0					12																	6080794		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6080794G>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7519C>T	12.37:g.6080794G>A	ENSP00000261405:p.Arg2507Trp	True	False		Somatic	0					p.R2507W	NM_000552.3	NP_000543	WXS	Illumina HiSeq	Phase_I	P04275	VWF_HUMAN			44	7773	-			2507					Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.7519C>T	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.968317	0.53614	.	.	ENSG00000110799	ENST00000261405	T	0.37752	1.18	4.79	1.9	0.25705	.	0.194975	0.25261	N	0.031943	T	0.30947	0.0781	M	0.64404	1.975	0.47994	D	0.999565	B	0.19073	0.033	B	0.12156	0.007	T	0.10965	-1.0607	10	0.62326	D	0.03	.	5.2466	0.15500	0.1761:0.0:0.6614:0.1625	.	2507	P04275	VWF_HUMAN	W	2507	ENSP00000261405:R2507W	ENSP00000261405:R2507W	R	-	1	2	VWF	5951055	0.487000	0.25988	0.082000	0.20525	0.026000	0.11368	0.507000	0.22675	0.204000	0.20548	0.561000	0.74099	CGG		0.612	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	0	NM_000552		12:6080794
NFASC	23114	broad.mit.edu	37	1	204957892	204957892	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr1:204957892G>A	ENST00000401399.1	+	22	2924	c.2725G>A	c.(2725-2727)Ggg>Agg	p.G909R	NFASC_ENST00000367169.4_Missense_Mutation_p.G909R|NFASC_ENST00000367171.4_Missense_Mutation_p.G1001R|NFASC_ENST00000367170.4_Missense_Mutation_p.G1016R|NFASC_ENST00000338586.6_Missense_Mutation_p.G1016R|NFASC_ENST00000539706.1_Missense_Mutation_p.G1012R|NFASC_ENST00000513543.1_Missense_Mutation_p.G1012R|NFASC_ENST00000367172.4_Missense_Mutation_p.G1016R|NFASC_ENST00000338515.6_Missense_Mutation_p.G1016R|NFASC_ENST00000360049.4_Missense_Mutation_p.G1012R|NFASC_ENST00000404907.1_Missense_Mutation_p.G1012R|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000404076.1_Missense_Mutation_p.G995R|NFASC_ENST00000339876.6_Missense_Mutation_p.G909R			O94856	NFASC_HUMAN	neurofascin	917	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GGTGGGCTCTGGGGAAGCCGT	0.592																																						ENST00000367172.4		NA																	0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81						c.(3046-3048)Ggg>Agg		neurofascin							74.0	73.0	74.0					1																	204957892		2203	4300	6503	SO:0001583	missense	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204957892G>A	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.2725G>A	1.37:g.204957892G>A	ENSP00000385637:p.Gly909Arg	True	False		Somatic	0				NFASC_ENST00000367171.4_Missense_Mutation_p.G1001R|NFASC_ENST00000339876.6_Missense_Mutation_p.G909R|NFASC_ENST00000338586.6_Missense_Mutation_p.G1016R|NFASC_ENST00000404076.1_Missense_Mutation_p.G995R|NFASC_ENST00000539706.1_Missense_Mutation_p.G1012R|NFASC_ENST00000404907.1_Missense_Mutation_p.G1012R|NFASC_ENST00000367169.4_Missense_Mutation_p.G909R|NFASC_ENST00000401399.1_Missense_Mutation_p.G909R|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000367170.4_Missense_Mutation_p.G1016R|NFASC_ENST00000338515.6_Missense_Mutation_p.G1016R|NFASC_ENST00000513543.1_Missense_Mutation_p.G1012R|NFASC_ENST00000360049.4_Missense_Mutation_p.G1012R	p.G1016R			WXS	Illumina HiSeq	Phase_I	O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		25	3374	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		1016			Fibronectin type-III 4.		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	c.3046G>A	CCDS53460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.612808|5.612808	0.96637|0.96637	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393|ENST00000413225	T;T;T;T;D;T;T;T;D;T;D;T;T;T|.	0.91996|.	-0.05;-0.05;-0.05;-0.05;-2.95;-0.05;-0.05;-0.05;-2.95;-0.05;-2.95;-0.05;-0.05;-0.05|.	5.57|5.57	5.57|5.57	0.84162|0.84162	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.000000|.	0.49916|.	D|.	0.000140|.	D|.	0.86732|.	0.6003|.	M|M	0.92970|0.92970	3.365|3.365	0.38365|0.38365	D|D	0.944703|0.944703	D;D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;0.997;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D;D|.	0.97110|.	1.0;0.999;0.995;1.0;0.998;1.0;1.0;0.999;0.999|.	D|.	0.90619|.	0.4558|.	10|.	0.87932|.	D|.	0|.	.|.	19.1402|19.1402	0.93444|0.93444	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1016;1027;1012;1016;1016;909;1001;909;1012|.	O94856;O94856-11;O94856-8;O94856-7;F8W8X7;O94856-4;F8W791;O94856-9;O94856-3|.	NFASC_HUMAN;.;.;.;.;.;.;.;.|.	R|X	1016;1001;1016;1016;909;1016;1027;1012;1012;909;995;909;1012;1012;1003|34	ENSP00000356140:G1016R;ENSP00000356139:G1001R;ENSP00000356138:G1016R;ENSP00000342128:G1016R;ENSP00000344786:G909R;ENSP00000343509:G1016R;ENSP00000438614:G1012R;ENSP00000353154:G1012R;ENSP00000356137:G909R;ENSP00000385676:G995R;ENSP00000385637:G909R;ENSP00000384061:G1012R;ENSP00000425908:G1012R;ENSP00000415031:G1003R|.	ENSP00000295776:G1027R|.	G|W	+|+	1|2	0|0	NFASC|NFASC	203224515|203224515	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.413000|9.413000	0.97351|0.97351	2.600000|2.600000	0.87896|0.87896	0.655000|0.655000	0.94253|0.94253	GGG|TGG		0.592	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	0	NM_001005388		1:204957892
APEH	327	broad.mit.edu	37	3	49723522	49723522	+	IGR	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr3:49723522G>A	ENST00000296456.5	+	0	3220				MST1_ENST00000449682.2_Missense_Mutation_p.R374C|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_5'Flank|MST1_ENST00000383728.3_3'UTR	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.R360C(2)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCTGTACAACGCCGGATCTGG	0.697																																						ENST00000449682.2		NA																	2	Substitution - Missense(2)	p.R360C(2)	lung(1)|central_nervous_system(1)	NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1120-1122)Cgt>Tgt		macrophage stimulating 1 (hepatocyte growth factor-like)							12.0	14.0	13.0					3																	49723522		2191	4284	6475	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723522G>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723522G>A		False	False		Somatic	0				MST1_ENST00000383728.3_3'UTR	p.R374C	NM_020998.3	NP_066278.3	WXS	Illumina HiSeq	Phase_I	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1481	-			360			Kringle 4.		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1120C>T	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.037157	0.93630	.	.	ENSG00000173531	ENST00000449682	T	0.68181	-0.31	5.4	4.52	0.55395	.	0.000000	0.42682	D	0.000669	D	0.83078	0.5176	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.83214	-0.0072	10	0.32370	T	0.25	.	13.2202	0.59883	0.0778:0.0:0.9222:0.0	.	374	G3XAK1	.	C	374	ENSP00000414287:R374C	ENSP00000414287:R374C	R	-	1	0	MST1	49698526	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	8.008000	0.88588	2.526000	0.85167	0.655000	0.94253	CGT		0.697	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2	0			3:49723522
EMR3	84658	broad.mit.edu	37	19	14749135	14749135	+	Silent	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr19:14749135G>A	ENST00000253673.5	-	11	1366	c.1266C>T	c.(1264-1266)atC>atT	p.I422I	EMR3_ENST00000599900.1_Silent_p.I207I|EMR3_ENST00000344373.4_Silent_p.I370I|EMR3_ENST00000443157.2_Silent_p.I296I	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	422					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						AAGCACCGGCGATGATGGAGC	0.582																																						ENST00000253673.5		NA																	0				NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						c.(1264-1266)atC>atT		egf-like module containing, mucin-like, hormone receptor-like 3							76.0	62.0	67.0					19																	14749135		2203	4300	6503	SO:0001819	synonymous_variant	84658				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14749135G>A	AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.1266C>T	19.37:g.14749135G>A		False	False		Somatic	0				EMR3_ENST00000344373.4_Silent_p.I370I|EMR3_ENST00000443157.2_Silent_p.I296I|EMR3_ENST00000599900.1_Silent_p.I207I	p.I422I	NM_032571.3	NP_115960.2	WXS	Illumina HiSeq	Phase_I	Q9BY15	EMR3_HUMAN			11	1366	-			422						Silent	SNP	ENST00000253673.5	37	c.1266C>T	CCDS12315.1																																																																																				0.582	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	0	NM_032571		19:14749135
CCT8	10694	broad.mit.edu	37	21	30434482	30434482	+	Silent	SNP	G	G	A	rs148753136	byFrequency	TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr21:30434482G>A	ENST00000286788.4	-	11	1385	c.1179C>T	c.(1177-1179)gaC>gaT	p.D393D	CCT8_ENST00000542732.1_Silent_p.D374D|CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000540844.1_Silent_p.D320D|AF129075.5_ENST00000457162.2_RNA	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	393					'de novo' posttranslational protein folding (GO:0051084)|ATP catabolic process (GO:0006200)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	aggresome (GO:0016235)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)	p.D393D(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						TAACACCATCGTCTACTGCCC	0.358													G|||	6	0.00119808	0.0038	0.0014	5008	,	,		20489	0.0		0.0	False		,,,				2504	0.0					ENST00000286788.4		NA																	1	Substitution - coding silent(1)	p.D393D(1)	large_intestine(1)	breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						c.(1177-1179)gaC>gaT		chaperonin containing TCP1, subunit 8 (theta)		G		28,4378	33.5+/-64.1	0,28,2175	172.0	164.0	167.0		1179	1.3	1.0	21	dbSNP_134	167	0,8600		0,0,4300	no	coding-synonymous	CCT8	NM_006585.2		0,28,6475	AA,AG,GG		0.0,0.6355,0.2153		393/549	30434482	28,12978	2203	4300	6503	SO:0001819	synonymous_variant	10694				'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding	g.chr21:30434482G>A	Z37163	CCDS33528.1, CCDS68180.1	21q21.3	2011-09-02			ENSG00000156261	ENSG00000156261		"""Heat Shock Proteins / Chaperonins"""	1623	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 112"""	C21orf112		7890169	Standard	NM_006585		Approved	Cctq, PRED71	uc002ynb.3	P50990	OTTHUMG00000044595	ENST00000286788.4:c.1179C>T	21.37:g.30434482G>A		False	False		Somatic	0				CCT8_ENST00000542732.1_Silent_p.D374D|CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000540844.1_Silent_p.D320D	p.D393D	NM_006585.2	NP_006576.2	WXS	Illumina HiSeq	Phase_I	P50990	TCPQ_HUMAN			11	1385	-			393					A6NN54|B4DEM7|B4DQH4|Q4VBP8	Silent	SNP	ENST00000286788.4	37	c.1179C>T	CCDS33528.1																																																																																				0.358	CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171822.1	0			21:30434482
JARID2	3720	broad.mit.edu	37	6	15497190	15497190	+	Silent	SNP	C	C	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr6:15497190C>T	ENST00000341776.2	+	7	1978	c.1734C>T	c.(1732-1734)cgC>cgT	p.R578R	JARID2_ENST00000397311.3_Silent_p.R406R|JARID2_ENST00000541660.1_Silent_p.R540R	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	578	JmjN. {ECO:0000255|PROSITE- ProRule:PRU00537}.				central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AGTCGGTCCGCGCTCAGGTGG	0.652																																						ENST00000341776.2		NA																	0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59						c.(1732-1734)cgC>cgT		jumonji, AT rich interactive domain 2							61.0	54.0	56.0					6																	15497190		2203	4300	6503	SO:0001819	synonymous_variant	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15497190C>T	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.1734C>T	6.37:g.15497190C>T		False	False		Somatic	0				JARID2_ENST00000541660.1_Silent_p.R540R|JARID2_ENST00000397311.3_Silent_p.R406R	p.R578R	NM_004973.3	NP_004964.2	WXS	Illumina HiSeq	Phase_I	Q92833	JARD2_HUMAN			7	1978	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	578			JmjN.		A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Silent	SNP	ENST00000341776.2	37	c.1734C>T	CCDS4533.1																																																																																				0.652	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	0	NM_004973		6:15497190
HP	3240	broad.mit.edu	37	16	72094379	72094379	+	Missense_Mutation	SNP	G	G	A	rs189039907		TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr16:72094379G>A	ENST00000355906.5	+	7	869	c.811G>A	c.(811-813)Gat>Aat	p.D271N	HPR_ENST00000561690.1_5'Flank|HP_ENST00000562526.1_Intron|HP_ENST00000398131.2_Missense_Mutation_p.D212N|HPR_ENST00000540303.2_5'Flank|HP_ENST00000570083.1_Missense_Mutation_p.D212N|HP_ENST00000357763.4_Missense_Mutation_p.D307N|HPR_ENST00000356967.5_Intron|HP_ENST00000565574.1_Missense_Mutation_p.D212N	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	271	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute-phase response (GO:0006953)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|immune system process (GO:0002376)|negative regulation of hydrogen peroxide catabolic process (GO:2000296)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of cell death (GO:0010942)|response to hydrogen peroxide (GO:0042542)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)	antioxidant activity (GO:0016209)|hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		ACCTTCAAAGGATTATGCAGA	0.458																																						ENST00000357763.4		NA																	0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7						c.(919-921)Gat>Aat		haptoglobin							98.0	97.0	98.0					16																	72094379		1933	4151	6084	SO:0001583	missense	3240				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity	g.chr16:72094379G>A		CCDS45524.1, CCDS45525.1	16q22.2	2012-10-02			ENSG00000257017	ENSG00000257017			5141	protein-coding gene	gene with protein product		140100				11109501, 9352226	Standard	NM_005143		Approved		uc002fbr.4	P00738		ENST00000355906.5:c.811G>A	16.37:g.72094379G>A	ENSP00000348170:p.Asp271Asn	False	False		Somatic	0				HPR_ENST00000356967.5_Intron|HP_ENST00000562526.1_Intron|HP_ENST00000355906.5_Missense_Mutation_p.D271N|HP_ENST00000398131.2_Missense_Mutation_p.D212N|HP_ENST00000565574.1_Missense_Mutation_p.D212N|HP_ENST00000570083.1_Missense_Mutation_p.D212N	p.D307N			WXS	Illumina HiSeq	Phase_I	P00738	HPT_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)	8	946	+		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)	0			Peptidase S1.		B0AZL5|P00737|Q0VAC4|Q0VAC5|Q2PP15|Q3B7J0|Q6LBY9|Q9UC67	Missense_Mutation	SNP	ENST00000355906.5	37	c.919G>A	CCDS45524.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	g	12.22	1.872195	0.33069	.	.	ENSG00000257017	ENST00000355906;ENST00000398131;ENST00000405951;ENST00000357763	D;D	0.88741	-2.42;-2.42	5.12	3.18	0.36537	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.058620	0.64402	N	0.000005	D	0.82577	0.5067	L	0.33245	0.995	0.80722	D	1	B;B;B;B	0.26120	0.006;0.142;0.035;0.013	B;B;B;B	0.28784	0.02;0.094;0.053;0.065	T	0.77765	-0.2465	10	0.49607	T	0.09	.	10.5318	0.44981	0.1575:0.0:0.8425:0.0	.	93;146;212;271	Q6PEJ8;Q6NSB4;Q0VAC5;P00738	.;.;.;HPT_HUMAN	N	271;212;146;247	ENSP00000348170:D271N;ENSP00000381199:D212N	ENSP00000348170:D271N	D	+	1	0	HP	70651880	1.000000	0.71417	0.313000	0.25210	0.827000	0.46813	3.043000	0.49823	0.768000	0.33290	-0.124000	0.14976	GAT		0.458	HP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421680.1	0	NM_005143		16:72094379
KIF4B	285643	broad.mit.edu	37	5	154394186	154394186	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr5:154394186G>A	ENST00000435029.4	+	1	927	c.767G>A	c.(766-768)cGt>cAt	p.R256H		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	256	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GAAGGGGATCGTCTAAAAGAG	0.438																																						ENST00000435029.4		NA																	0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(766-768)cGt>cAt		kinesin family member 4B							125.0	126.0	126.0					5																	154394186		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154394186G>A	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.767G>A	5.37:g.154394186G>A	ENSP00000387875:p.Arg256His	False	False		Somatic	0					p.R256H	NM_001099293.1	NP_001092763.1	WXS	Illumina HiSeq	Phase_I	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	927	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	256			Kinesin-motor.			Missense_Mutation	SNP	ENST00000435029.4	37	c.767G>A	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	g	15.48	2.846628	0.51164	.	.	ENSG00000226650	ENST00000435029	T	0.75704	-0.96	1.73	-0.196	0.13232	Kinesin, motor domain (4);	.	.	.	.	D	0.85796	0.5780	M	0.92880	3.355	0.54753	D	0.999988	D	0.89917	1.0	D	0.97110	1.0	T	0.82358	-0.0497	9	0.87932	D	0	.	5.6824	0.17784	0.3387:0.0:0.6613:0.0	.	256	Q2VIQ3	KIF4B_HUMAN	H	256	ENSP00000387875:R256H	ENSP00000387875:R256H	R	+	2	0	KIF4B	154374379	0.928000	0.31464	0.987000	0.45799	0.991000	0.79684	3.002000	0.49496	-0.068000	0.12953	-0.137000	0.14449	CGT		0.438	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1	0			5:154394186
CCT6P1	643253	broad.mit.edu	37	7	65226641	65226641	+	RNA	SNP	G	G	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr7:65226641G>T	ENST00000442266.1	+	0	1167				SNORA15_ENST00000384058.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		AGGTTCTTGCGCAGAATTCTG	0.383																																						ENST00000442266.1		NA																	0					NA																																														0							g.chr7:65226641G>T	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65226641G>T		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	1167	+			NA						RNA	SNP	ENST00000442266.1	37																																																																																						0.383	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	0	NR_003110		7:65226641
AHNAK2	113146	broad.mit.edu	37	14	105420573	105420573	+	Silent	SNP	G	G	A	rs368999034		TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr14:105420573G>A	ENST00000333244.5	-	7	1334	c.1215C>T	c.(1213-1215)tgC>tgT	p.C405C	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	405						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGTTCCCTCGCAAAGTCTAG	0.622																																						ENST00000333244.5		NA																	0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(1213-1215)tgC>tgT		AHNAK nucleoprotein 2		G		0,4126		0,0,2063	82.0	86.0	85.0		1215	-4.4	0.0	14		85	2,8430		0,2,4214	no	coding-synonymous	AHNAK2	NM_138420.2		0,2,6277	AA,AG,GG		0.0237,0.0,0.0159		405/5796	105420573	2,12556	2063	4216	6279	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105420573G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.1215C>T	14.37:g.105420573G>A		False	False		Somatic	0					p.C405C	NM_138420.2	NP_612429.2	WXS	Illumina HiSeq	Phase_I	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	1334	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	405					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.1215C>T	CCDS45177.1																																																																																				0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	0	NM_138420		14:105420573
LPPR4	9890	broad.mit.edu	37	1	99762345	99762345	+	Missense_Mutation	SNP	G	G	C			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr1:99762345G>C	ENST00000370185.3	+	3	957	c.460G>C	c.(460-462)Ggg>Cgg	p.G154R	LPPR4_ENST00000457765.1_Missense_Mutation_p.G154R|LPPR4_ENST00000370184.1_5'Flank	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		154					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AAGAAGAAATGGGGTCGGACT	0.463																																						ENST00000370185.3		NA																	0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72						c.(460-462)Ggg>Cgg									96.0	102.0	100.0					1																	99762345		2203	4300	6503	SO:0001583	missense	0						phosphatidate phosphatase activity	g.chr1:99762345G>C																												ENST00000370185.3:c.460G>C	1.37:g.99762345G>C	ENSP00000359204:p.Gly154Arg	True	False		Somatic	0				LPPR4_ENST00000457765.1_Missense_Mutation_p.G154R	p.G154R	NM_014839.4	NP_055654.2	WXS	Illumina HiSeq	Phase_I	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	3	957	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	154					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.460G>C	CCDS757.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279059	0.40294	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178	T;T	0.14640	2.49;2.49	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.18002	0.0432	L	0.38175	1.15	0.80722	D	1	D;B	0.69078	0.997;0.004	D;B	0.67103	0.949;0.006	T	0.03025	-1.1081	10	0.21540	T	0.41	-25.1467	19.5717	0.95423	0.0:0.0:1.0:0.0	.	154;154	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	R	154	ENSP00000359204:G154R;ENSP00000394913:G154R	ENSP00000263178:G154R	G	+	1	0	RP4-788L13.1	99534933	1.000000	0.71417	0.996000	0.52242	0.738000	0.42128	6.651000	0.74372	2.644000	0.89710	0.655000	0.94253	GGG		0.463	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2	0			1:99762345
ZNF821	55565	broad.mit.edu	37	16	71913839	71913839	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr16:71913839C>T	ENST00000565601.1	-	2	418	c.11G>A	c.(10-12)cGg>cAg	p.R4Q	RP11-498D10.3_ENST00000561979.1_RNA|ZNF821_ENST00000564134.1_Missense_Mutation_p.R4Q|ZNF821_ENST00000313565.6_Missense_Mutation_p.R4Q|ZNF821_ENST00000564943.1_5'UTR|ZNF821_ENST00000446827.2_Missense_Mutation_p.R4Q|ZNF821_ENST00000425432.1_Missense_Mutation_p.R4Q|ATXN1L_ENST00000569119.1_Intron	NM_001201553.1	NP_001188482.1	O75541	ZN821_HUMAN	zinc finger protein 821	4					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R4L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						TGTCTGTTTCCGACGGGACAT	0.438																																						ENST00000425432.1		NA																	1	Substitution - Missense(1)	p.R4L(1)	lung(1)	endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						c.(10-12)cGg>cAg		zinc finger protein 821							285.0	272.0	276.0					16																	71913839		2198	4300	6498	SO:0001583	missense	55565				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:71913839C>T	AF070588	CCDS32481.1, CCDS56006.1, CCDS73911.1	16q22.3	2008-05-02				ENSG00000102984		"""Zinc fingers, C2H2-type"""	28043	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_017530		Approved		uc021tlb.1	O75541		ENST00000565601.1:c.11G>A	16.37:g.71913839C>T	ENSP00000455648:p.Arg4Gln	False	False		Somatic	0				ATXN1L_ENST00000569119.1_Intron|ZNF821_ENST00000564943.1_5'UTR|ZNF821_ENST00000565601.1_Missense_Mutation_p.R4Q|ZNF821_ENST00000564134.1_Missense_Mutation_p.R4Q|ZNF821_ENST00000313565.6_Missense_Mutation_p.R4Q|ZNF821_ENST00000446827.2_Missense_Mutation_p.R4Q	p.R4Q	NM_001201552.1	NP_001188481.1	WXS	Illumina HiSeq	Phase_I	O75541	ZN821_HUMAN			3	390	-			4					A6NK48|B4DKK4|D3DWS3	Missense_Mutation	SNP	ENST00000565601.1	37	c.11G>A	CCDS56006.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.924263	0.73213	.	.	ENSG00000102984	ENST00000425432;ENST00000313565;ENST00000446827	T;T;T	0.01505	6.15;4.82;4.82	5.75	5.75	0.90469	.	0.197314	0.41605	D	0.000844	T	0.04861	0.0131	N	0.19112	0.55	0.52501	D	0.999955	D;D	0.64830	0.994;0.99	P;D	0.66847	0.885;0.947	T	0.57963	-0.7720	10	0.51188	T	0.08	-12.0468	16.6641	0.85248	0.0:1.0:0.0:0.0	.	4;4	B4DKK4;O75541-2	.;.	Q	4	ENSP00000398089:R4Q;ENSP00000313822:R4Q;ENSP00000405908:R4Q	ENSP00000313822:R4Q	R	-	2	0	ZNF821	70471340	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.962000	0.56766	2.696000	0.92011	0.655000	0.94253	CGG		0.438	ZNF821-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434180.1	0	NM_017530		16:71913839
COL4A5	1287	broad.mit.edu	37	X	107849999	107849999	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chrX:107849999C>A	ENST00000361603.2	+	29	2516	c.2272C>A	c.(2272-2274)Cca>Aca	p.P758T	COL4A5_ENST00000328300.6_Missense_Mutation_p.P758T	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	758	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ATTACCTGGGCCACCTGGGCC	0.507									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(2272-2274)Cca>Aca		collagen, type IV, alpha 5							146.0	118.0	127.0					X																	107849999		2203	4300	6503	SO:0001583	missense	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107849999C>A	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.2272C>A	X.37:g.107849999C>A	ENSP00000354505:p.Pro758Thr	True	False		Somatic	0				COL4A5_ENST00000361603.2_Missense_Mutation_p.P758T	p.P758T	NM_033380.2	NP_203699.1	WXS	Illumina HiSeq	Phase_I	P29400	CO4A5_HUMAN			29	2516	+			758			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.2272C>A	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392716	0.62066	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.97710	-4.5;-4.5	5.61	5.61	0.85477	.	0.121540	0.56097	D	0.000027	D	0.98071	0.9364	M	0.66506	2.035	0.53688	D	0.999976	D;D;D	0.69078	0.982;0.997;0.982	P;D;P	0.63113	0.812;0.911;0.812	D	0.97820	1.0256	10	0.14656	T	0.56	.	18.6523	0.91435	0.0:1.0:0.0:0.0	.	758;366;758	E7EVY4;Q49AM6;P29400	.;.;CO4A5_HUMAN	T	758	ENSP00000331902:P758T;ENSP00000354505:P758T	ENSP00000331902:P758T	P	+	1	0	COL4A5	107736655	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.456000	0.80751	2.348000	0.79779	0.600000	0.82982	CCA		0.507	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2	0			X:107849999
ZNF860	344787	broad.mit.edu	37	3	32032006	32032006	+	Missense_Mutation	SNP	G	G	C			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr3:32032006G>C	ENST00000360311.4	+	2	1984	c.1435G>C	c.(1435-1437)Gag>Cag	p.E479Q		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	479					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(4)|ovary(1)	8						TCATACTGGAGAGAAACCTTA	0.418																																						ENST00000360311.4		NA																	0				endometrium(3)|lung(4)|ovary(1)	8						c.(1435-1437)Gag>Cag		zinc finger protein 860							31.0	32.0	31.0					3																	32032006		692	1591	2283	SO:0001583	missense	344787				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:32032006G>C	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"""Zinc fingers, C2H2-type"", ""-"""	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.1435G>C	3.37:g.32032006G>C	ENSP00000373274:p.Glu479Gln	True	False		Somatic	0					p.E479Q	NM_001137674.2	NP_001131146.2	WXS	Illumina HiSeq	Phase_I	A6NHJ4	ZN860_HUMAN			2	1984	+			479					B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	c.1435G>C	CCDS46784.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.725280	0.48833	.	.	ENSG00000197385	ENST00000360311	T	0.25912	1.77	0.3	0.3	0.15776	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21631	0.0521	L	0.45698	1.435	0.25667	N	0.985932	P	0.48407	0.91	B	0.43331	0.416	T	0.13308	-1.0514	8	.	.	.	.	6.4042	0.21656	2.0E-4:0.0:0.9998:0.0	.	479	A6NHJ4	ZN860_HUMAN	Q	479	ENSP00000373274:E479Q	.	E	+	1	0	ZNF860	32007010	1.000000	0.71417	0.153000	0.22517	0.142000	0.21351	4.837000	0.62796	0.378000	0.24764	0.379000	0.24179	GAG		0.418	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1	0			3:32032006
AHRR	57491	broad.mit.edu	37	5	434610	434610	+	Silent	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr5:434610G>A	ENST00000505113.1	+	11	1811	c.1767G>A	c.(1765-1767)tcG>tcA	p.S589S	AHRR_ENST00000316418.5_Silent_p.S607S|AHRR_ENST00000512529.1_Silent_p.S435S|AHRR_ENST00000506456.1_Silent_p.S445S	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	589	Needed for transcriptional repression. {ECO:0000250}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			TGTACATCTCGCACCTGGGGC	0.667																																						ENST00000316418.5		NA																	0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(1819-1821)tcG>tcA		aryl-hydrocarbon receptor repressor							32.0	35.0	34.0					5																	434610		2102	4232	6334	SO:0001819	synonymous_variant	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:434610G>A	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.1767G>A	5.37:g.434610G>A		False	False		Somatic	0				AHRR_ENST00000512529.1_Silent_p.S435S|AHRR_ENST00000506456.1_Silent_p.S445S|AHRR_ENST00000505113.1_Silent_p.S589S	p.S607S	NM_020731.4	NP_065782.2	WXS	Illumina HiSeq	Phase_I	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		12	1865	+			589			Needed for transcriptional repression (By similarity).		A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Silent	SNP	ENST00000505113.1	37	c.1821G>A	CCDS56355.1																																																																																				0.667	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	0	NM_020731		5:434610
SNHG14	104472715	broad.mit.edu	37	15	25470355	25470355	+	RNA	SNP	A	A	C			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr15:25470355A>C	ENST00000424208.1	+	0	6332				SNORD115-30_ENST00000364117.1_RNA|SNORD115-31_ENST00000365318.1_RNA|SNORD115-29_ENST00000362834.1_RNA|SNHG14_ENST00000453082.2_RNA|SNORD115-28_ENST00000363931.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		GGGTTGGGTCAATGATGAGAA	0.488																																						ENST00000453082.2		NA																	0					NA															266.0	266.0	266.0					15																	25470355		876	1991	2867			0							g.chr15:25470355A>C			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25470355A>C		False	False		Somatic	0				SNORD115-30_ENST00000364117.1_RNA		NR_003343.1		WXS	Illumina HiSeq	Phase_I					0	1061	+			NA						RNA	SNP	ENST00000424208.1	37																																																																																						0.488	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2	0			15:25470355
CAPZA1	829	broad.mit.edu	37	1	113162484	113162484	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr1:113162484T>A	ENST00000263168.3	+	1	690	c.18T>A	c.(16-18)gaT>gaA	p.D6E	ST7L_ENST00000369669.1_5'Flank|ST7L_ENST00000369666.1_5'Flank|ST7L_ENST00000544629.1_5'Flank|CAPZA1_ENST00000476936.1_3'UTR|ST7L_ENST00000490067.1_5'Flank|ST7L_ENST00000538187.1_5'Flank|ST7L_ENST00000360743.4_5'Flank|ST7L_ENST00000463235.1_Intron|ST7L_ENST00000369668.2_5'Flank|ST7L_ENST00000343210.7_5'Flank|ST7L_ENST00000358039.4_5'Flank|ST7L_ENST00000543570.1_5'Flank	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN	capping protein (actin filament) muscle Z-line, alpha 1	6					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|WASH complex (GO:0071203)	actin binding (GO:0003779)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACTTCGATGATCGTGTGTCGG	0.672																																						ENST00000263168.3		NA																	0				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9						c.(16-18)gaT>gaA		capping protein (actin filament) muscle Z-line, alpha 1							41.0	32.0	35.0					1																	113162484		2203	4300	6503	SO:0001583	missense	829				actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex|WASH complex	actin binding	g.chr1:113162484T>A	U56637	CCDS30805.1	1p13.2	2014-05-09			ENSG00000116489	ENSG00000116489			1488	protein-coding gene	gene with protein product		601580				7665558, 9119363	Standard	NM_006135		Approved		uc001ecj.1	P52907	OTTHUMG00000011769	ENST00000263168.3:c.18T>A	1.37:g.113162484T>A	ENSP00000263168:p.Asp6Glu	False	False		Somatic	0				ST7L_ENST00000463235.1_Intron|CAPZA1_ENST00000476936.1_3'UTR	p.D6E	NM_006135.2	NP_006126.1	WXS	Illumina HiSeq	Phase_I	P52907	CAZA1_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	690	+	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	6					Q53FQ6|Q6FHD5	Missense_Mutation	SNP	ENST00000263168.3	37	c.18T>A	CCDS30805.1	.	.	.	.	.	.	.	.	.	.	T	11.82	1.753284	0.31046	.	.	ENSG00000116489	ENST00000263168	.	.	.	6.17	6.17	0.99709	.	0.161441	0.53938	D	0.000048	T	0.19565	0.0470	N	0.02765	-0.5	0.80722	D	1	P	0.37176	0.586	P	0.47744	0.556	T	0.31779	-0.9931	9	0.02654	T	1	-1.0931	14.3455	0.66658	0.0:0.0:0.0:1.0	.	6	P52907	CAZA1_HUMAN	E	6	.	ENSP00000263168:D6E	D	+	3	2	CAPZA1	112964007	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.547000	0.36190	2.371000	0.80710	0.533000	0.62120	GAT		0.672	CAPZA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032567.2	0	NM_006135		1:113162484
C2orf44	80304	broad.mit.edu	37	2	24262175	24262175	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr2:24262175A>G	ENST00000295148.4	-	2	247	c.190T>C	c.(190-192)Tcc>Ccc	p.S64P	C2orf44_ENST00000406895.3_Missense_Mutation_p.S64P	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	64									C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGGCCCAGGACAACCCACAG	0.517			T	ALK	NSCLC																																	ENST00000295148.4		NA		Dom	yes		2	2p23.3	80304	T	chromosome 2 open reading frame 44			E	ALK		NSCLC	C2orf44/ALK(2)	0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24						c.(190-192)Tcc>Ccc		chromosome 2 open reading frame 44							127.0	109.0	115.0					2																	24262175		2203	4300	6503	SO:0001583	missense	80304						protein binding	g.chr2:24262175A>G	AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.190T>C	2.37:g.24262175A>G	ENSP00000295148:p.Ser64Pro	False	False		Somatic	0				C2orf44_ENST00000406895.3_Missense_Mutation_p.S64P	p.S64P	NM_025203.2	NP_079479.1	WXS	Illumina HiSeq	Phase_I	Q9H6R7	CB044_HUMAN			2	247	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		64					D6W532|Q8IYK0|Q9HBP5	Missense_Mutation	SNP	ENST00000295148.4	37	c.190T>C	CCDS1705.1	.	.	.	.	.	.	.	.	.	.	A	18.33	3.599470	0.66332	.	.	ENSG00000163026	ENST00000295148;ENST00000406895;ENST00000443232	T;T;T	0.54071	3.31;3.31;0.59	5.24	5.24	0.73138	.	0.230586	0.47455	D	0.000236	T	0.66117	0.2757	M	0.62723	1.935	0.30894	N	0.730021	D;D	0.63880	0.993;0.993	P;P	0.61132	0.884;0.884	T	0.68236	-0.5462	10	0.36615	T	0.2	-4.878	15.4386	0.75165	1.0:0.0:0.0:0.0	.	64;64	Q9H6R7-2;Q9H6R7	.;CB044_HUMAN	P	64	ENSP00000295148:S64P;ENSP00000385816:S64P;ENSP00000413426:S64P	ENSP00000295148:S64P	S	-	1	0	C2orf44	24115679	1.000000	0.71417	0.935000	0.37517	0.714000	0.41099	7.490000	0.81461	2.115000	0.64714	0.533000	0.62120	TCC		0.517	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246825.1	0	NM_025203		2:24262175
MYO1F	4542	broad.mit.edu	37	19	8609328	8609328	+	Silent	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr19:8609328G>A	ENST00000338257.8	-	14	1644	c.1377C>T	c.(1375-1377)agC>agT	p.S459S	AC092316.2_ENST00000581156.1_RNA	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	459	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CGTCCAAGACGCTCATGATGC	0.667																																						ENST00000338257.8		NA																	0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						c.(1375-1377)agC>agT		myosin IF							15.0	20.0	18.0					19																	8609328		2052	4206	6258	SO:0001819	synonymous_variant	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8609328G>A	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.1377C>T	19.37:g.8609328G>A		False	False		Somatic	0					p.S459S	NM_012335.3	NP_036467.2	WXS	Illumina HiSeq	Phase_I	O00160	MYO1F_HUMAN			14	1644	-			459			Myosin head-like.		Q8WWN7	Silent	SNP	ENST00000338257.8	37	c.1377C>T	CCDS42494.1																																																																																				0.667	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2	0			19:8609328
SYT3	84258	broad.mit.edu	37	19	51133050	51133050	+	Missense_Mutation	SNP	A	A	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr19:51133050A>T	ENST00000338916.4	-	3	1686	c.1053T>A	c.(1051-1053)ttT>ttA	p.F351L	SYT3_ENST00000593901.1_Missense_Mutation_p.F351L|SYT3_ENST00000544769.1_Missense_Mutation_p.F351L|SYT3_ENST00000600079.1_Missense_Mutation_p.F351L	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	351	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CCTTGGTCTGAAACTTTTTCT	0.632																																						ENST00000338916.4		NA																	0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35						c.(1051-1053)ttT>ttA		synaptotagmin III							49.0	50.0	50.0					19																	51133050		2203	4300	6503	SO:0001583	missense	84258					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:51133050A>T	AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"""Synaptotagmins"""	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.1053T>A	19.37:g.51133050A>T	ENSP00000340914:p.Phe351Leu	True	False		Somatic	0				SYT3_ENST00000600079.1_Missense_Mutation_p.F351L|SYT3_ENST00000544769.1_Missense_Mutation_p.F351L|SYT3_ENST00000593901.1_Missense_Mutation_p.F351L	p.F351L	NM_032298.2	NP_115674.1	WXS	Illumina HiSeq	Phase_I	Q9BQG1	SYT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)	3	1686	-		all_neural(266;0.131)	351			C2 1.		Q8N5Z1|Q8N640	Missense_Mutation	SNP	ENST00000338916.4	37	c.1053T>A	CCDS12798.1	.	.	.	.	.	.	.	.	.	.	A	10.87	1.471928	0.26423	.	.	ENSG00000213023	ENST00000338916;ENST00000544769	T;T	0.68624	-0.34;-0.34	4.67	-4.51	0.03483	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.083116	0.47455	U	0.000232	T	0.44307	0.1287	N	0.12961	0.28	0.50039	D	0.999842	B	0.25955	0.138	B	0.18561	0.022	T	0.03157	-1.1066	10	0.29301	T	0.29	.	17.5164	0.87775	0.183:0.0:0.817:0.0	.	351	Q9BQG1	SYT3_HUMAN	L	351	ENSP00000340914:F351L;ENSP00000438883:F351L	ENSP00000340914:F351L	F	-	3	2	SYT3	55824862	0.967000	0.33354	0.971000	0.41717	0.461000	0.32589	0.042000	0.13949	-0.918000	0.03808	-0.250000	0.11733	TTT		0.632	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	0	NM_032298		19:51133050
MST1L	11223	broad.mit.edu	37	1	17084768	17084768	+	RNA	SNP	G	G	C			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr1:17084768G>C	ENST00000455405.2	-	0	248							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										TAGAGACCCCGCGCAGAAATG	0.572																																						ENST00000455405.2		NA																	0					NA																																														0							g.chr1:17084768G>C	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17084768G>C		True	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	248	-			NA					B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37			.	.	.	.	.	.	.	.	.	.	.	0.011	-1.693221	0.00731	.	.	ENSG00000186715	ENST00000389184;ENST00000442552	.	.	.	.	.	.	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.12050	0.0293	.	.	.	.	.	.	B	0.06786	0.001	B	0.08055	0.003	T	0.38308	-0.9667	5	0.02654	T	1	.	3.5811	0.07954	2.0E-4:0.4998:0.4998:2.0E-4	rs2092129;rs3982161	512	Q2TV78	MSTP9_HUMAN	G	481;512	.	ENSP00000445850:A481G	A	-	2	0	MST1P9	16957355	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	3.026000	0.49689	-0.000000	0.14550	0.000000	0.15137	GCG		0.572	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	0	NM_001271733		1:17084768
CEPT1	10390	broad.mit.edu	37	1	111702113	111702113	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr1:111702113G>T	ENST00000545121.1	+	3	659	c.451G>T	c.(451-453)Gaa>Taa	p.E151*	CEPT1_ENST00000357172.4_Nonsense_Mutation_p.E151*	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	151					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	diacylglycerol cholinephosphotransferase activity (GO:0004142)|ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	TCCTCTGGGAGAACTTTTTGA	0.378																																						ENST00000545121.1		NA																	0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8						c.(451-453)Gaa>Taa		choline/ethanolamine phosphotransferase 1	Choline(DB00122)						133.0	133.0	133.0					1																	111702113		2203	4300	6503	SO:0001587	stop_gained	10390					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding	g.chr1:111702113G>T	AF068302	CCDS830.1	1p13	2010-07-08			ENSG00000134255	ENSG00000134255	2.7.8.1, 2.7.8.2		24289	protein-coding gene	gene with protein product						10191259, 12216837	Standard	XM_005270353		Approved		uc001eah.1	Q9Y6K0	OTTHUMG00000012357	ENST00000545121.1:c.451G>T	1.37:g.111702113G>T	ENSP00000441980:p.Glu151*	False	False		Somatic	0				CEPT1_ENST00000357172.4_Nonsense_Mutation_p.E151*	p.E151*	NM_001007794.1	NP_001007795.1	WXS	Illumina HiSeq	Phase_I	Q9Y6K0	CEPT1_HUMAN		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	3	659	+		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)	151					Q69YJ9|Q9P0Y8	Nonsense_Mutation	SNP	ENST00000545121.1	37	c.451G>T	CCDS830.1	.	.	.	.	.	.	.	.	.	.	G	37	6.135643	0.97315	.	.	ENSG00000134255	ENST00000545121;ENST00000357172	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-41.1206	16.8534	0.86000	0.0:0.0:1.0:0.0	.	.	.	.	X	151	.	ENSP00000349696:E151X	E	+	1	0	CEPT1	111503636	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.568000	0.86640	0.655000	0.94253	GAA		0.378	CEPT1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034462.2	0	NM_006090		1:111702113
IFT81	28981	broad.mit.edu	37	12	110655943	110655943	+	Missense_Mutation	SNP	G	G	A	rs150790899		TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr12:110655943G>A	ENST00000242591.5	+	19	2449	c.1943G>A	c.(1942-1944)tGt>tAt	p.C648Y	IFT81_ENST00000552912.1_Missense_Mutation_p.C648Y	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	648					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						TTAATGGAATGTAAGAAACAG	0.388													G|||	1	0.000199681	0.0	0.0	5008	,	,		16776	0.001		0.0	False		,,,				2504	0.0					ENST00000242591.5		NA																	0				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						c.(1942-1944)tGt>tAt		intraflagellar transport 81 homolog (Chlamydomonas)							153.0	143.0	147.0					12																	110655943		1878	4108	5986	SO:0001583	missense	28981				cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum		g.chr12:110655943G>A	AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"""Intraflagellar transport homologs"""	14313	protein-coding gene	gene with protein product		605489	"""carnitine deficiency-associated, expressed in ventricle 1"", ""intraflagellar transport 81 homolog (Chlamydomonas)"""	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.1943G>A	12.37:g.110655943G>A	ENSP00000242591:p.Cys648Tyr	False	False		Somatic	0				IFT81_ENST00000552912.1_Missense_Mutation_p.C648Y	p.C648Y	NM_014055.3	NP_054774.2	WXS	Illumina HiSeq	Phase_I	Q8WYA0	IFT81_HUMAN			19	2449	+			648					Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Missense_Mutation	SNP	ENST00000242591.5	37	c.1943G>A	CCDS41831.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	.	19.76	3.888341	0.72524	.	.	ENSG00000122970	ENST00000552912;ENST00000242591;ENST00000550748	.	.	.	5.22	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.78039	0.4221	M	0.78916	2.43	0.80722	D	1	D	0.71674	0.998	D	0.70487	0.969	T	0.80821	-0.1211	9	0.59425	D	0.04	-8.5873	14.297	0.66321	0.0724:0.0:0.9276:0.0	.	648	Q8WYA0	IFT81_HUMAN	Y	648;648;79	.	ENSP00000242591:C648Y	C	+	2	0	IFT81	109140326	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.301000	0.96167	1.338000	0.45544	0.579000	0.79373	TGT		0.388	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403529.1	0	NM_014055		12:110655943
AHNAK	79026	broad.mit.edu	37	11	62299013	62299013	+	Missense_Mutation	SNP	T	T	G			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr11:62299013T>G	ENST00000378024.4	-	5	3150	c.2876A>C	c.(2875-2877)aAa>aCa	p.K959T	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	959					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCCCTTTACTTTAGGACCTTT	0.483																																						ENST00000378024.4		NA																	0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(2875-2877)aAa>aCa		AHNAK nucleoprotein							145.0	154.0	151.0					11																	62299013		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62299013T>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.2876A>C	11.37:g.62299013T>G	ENSP00000367263:p.Lys959Thr	True	False		Somatic	0				AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.K959T	NM_001620.1	NP_001611.1	WXS	Illumina HiSeq	Phase_I	Q09666	AHNK_HUMAN			5	3150	-		Melanoma(852;0.155)	959					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.2876A>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	t	9.875	1.200010	0.22121	.	.	ENSG00000124942	ENST00000378024	T	0.01665	4.7	4.8	3.66	0.41972	.	0.240370	0.41823	D	0.000807	T	0.09069	0.0224	H	0.95402	3.665	0.26966	N	0.965691	P	0.50528	0.936	P	0.51415	0.669	T	0.16247	-1.0409	10	0.30078	T	0.28	-2.0869	10.1142	0.42581	0.0:0.0808:0.0:0.9192	.	959	Q09666	AHNK_HUMAN	T	959	ENSP00000367263:K959T	ENSP00000367263:K959T	K	-	2	0	AHNAK	62055589	0.273000	0.24181	0.993000	0.49108	0.053000	0.15095	1.372000	0.34261	0.683000	0.31428	0.374000	0.22700	AAA		0.483	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	0	NM_024060		11:62299013
BCR	613	broad.mit.edu	37	22	23596046	23596046	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr22:23596046G>A	ENST00000305877.8	+	2	2091	c.1340G>A	c.(1339-1341)cGc>cAc	p.R447H	BCR_ENST00000359540.3_Missense_Mutation_p.R447H	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	447					actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	GAGGAGCAGCGCCGGCACCAA	0.622			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""																																	ENST00000305877.8		NA		Dom	yes		22	22q11.21	613	T	breakpoint cluster region			L	"""ABL1,  FGFR1, JAK2 """		"""CML, ALL, AML"""	BCR/JAK2(6)	0				central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						c.(1339-1341)cGc>cAc		breakpoint cluster region							60.0	52.0	55.0					22																	23596046		2202	4299	6501	SO:0001583	missense	613				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr22:23596046G>A		CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.1340G>A	22.37:g.23596046G>A	ENSP00000303507:p.Arg447His	False	False		Somatic	0				BCR_ENST00000359540.3_Missense_Mutation_p.R447H	p.R447H	NM_004327.3	NP_004318.3	WXS	Illumina HiSeq	Phase_I	P11274	BCR_HUMAN			2	2091	+			447					P78501|Q12842|Q4LE80|Q6NZI3	Missense_Mutation	SNP	ENST00000305877.8	37	c.1340G>A	CCDS13806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.104628|5.104628	0.94245|0.94245	.|.	.|.	ENSG00000186716|ENSG00000186716	ENST00000334149|ENST00000305877;ENST00000359540	.|T;T	.|0.30714	.|1.55;1.52	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|0.139385	.|0.47852	.|D	.|0.000211	T|T	0.33147|0.33147	0.0853|0.0853	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|P;D;D	.|0.61080	.|0.873;0.989;0.981	.|B;P;P	.|0.51974	.|0.256;0.686;0.488	T|T	0.04593|0.04593	-1.0940|-1.0940	6|10	0.13470|0.72032	T|D	0.59|0.01	.|.	12.4859|12.4859	0.55872|0.55872	0.0818:0.0:0.9182:0.0|0.0818:0.0:0.9182:0.0	.|.	.|36;447;447	.|B4E065;P11274-2;P11274	.|.;.;BCR_HUMAN	T|H	112|447	.|ENSP00000303507:R447H;ENSP00000352535:R447H	ENSP00000335450:A112T|ENSP00000303507:R447H	A|R	+|+	1|2	0|0	BCR|BCR	21926046|21926046	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	2.513000|2.513000	0.45494|0.45494	2.688000|2.688000	0.91661|0.91661	0.591000|0.591000	0.81541|0.81541	GCC|CGC		0.622	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	0	NM_004327		22:23596046
PCSK2	5126	broad.mit.edu	37	20	17417442	17417442	+	Missense_Mutation	SNP	G	G	A	rs144151196		TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr20:17417442G>A	ENST00000262545.2	+	8	1114	c.799G>A	c.(799-801)Gcc>Acc	p.A267T	PCSK2_ENST00000536609.1_Missense_Mutation_p.A232T|PCSK2_ENST00000377899.1_Missense_Mutation_p.A248T	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	267	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CATCTACAGCGCCAGCTGGGG	0.617																																						ENST00000262545.2		NA																	0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(799-801)Gcc>Acc		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	G	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	55.0	49.0	51.0		742,694,799	5.4	1.0	20	dbSNP_134	51	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	PCSK2	NM_001201528.1,NM_001201529.1,NM_002594.3	58,58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	248/620,232/604,267/639	17417442	1,13005	2203	4300	6503	SO:0001583	missense	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17417442G>A	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.799G>A	20.37:g.17417442G>A	ENSP00000262545:p.Ala267Thr	False	False		Somatic	0				PCSK2_ENST00000536609.1_Missense_Mutation_p.A232T|PCSK2_ENST00000377899.1_Missense_Mutation_p.A248T	p.A267T	NM_002594.3	NP_002585.2	WXS	Illumina HiSeq	Phase_I	P16519	NEC2_HUMAN			8	1114	+			267			Catalytic.		B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	c.799G>A	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	G	35	5.555701	0.96514	0.0	1.16E-4	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	D;D;D	0.87729	-2.29;-2.29;-2.29	5.38	5.38	0.77491	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.94918	0.8357	M	0.91459	3.21	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76071	0.987;0.955	D	0.95800	0.8832	10	0.87932	D	0	-30.2528	17.6879	0.88261	0.0:0.0:1.0:0.0	.	232;267	B4DFQ3;P16519	.;NEC2_HUMAN	T	248;267;232	ENSP00000367131:A248T;ENSP00000262545:A267T;ENSP00000437458:A232T	ENSP00000262545:A267T	A	+	1	0	PCSK2	17365442	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	9.413000	0.97351	2.519000	0.84933	0.655000	0.94253	GCC		0.617	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	0	NM_002594		20:17417442
USP28	57646	broad.mit.edu	37	11	113675589	113675589	+	Splice_Site	SNP	C	C	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr11:113675589C>T	ENST00000003302.4	-	20	2648		c.e20+1		USP28_ENST00000544967.1_Splice_Site|USP28_ENST00000545540.1_Splice_Site|USP28_ENST00000260188.5_Splice_Site	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28						cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TCTCTTCTCACCTTTCATCAT	0.428																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4		NA																	0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.e20+1		ubiquitin specific peptidase 28							120.0	110.0	113.0					11																	113675589		2201	4296	6497	SO:0001630	splice_region_variant	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113675589C>T	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.2579+1G>A	11.37:g.113675589C>T		False	False		Somatic	0				USP28_ENST00000544967.1_Splice_Site|USP28_ENST00000545540.1_Splice_Site|USP28_ENST00000260188.5_Splice_Site		NM_020886.2	NP_065937.1	WXS	Illumina HiSeq	Phase_I	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	20	2648	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	NA					B0YJC0|B0YJC1|Q9P213	Splice_Site	SNP	ENST00000003302.4	37		CCDS31680.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.688412	0.88639	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3748	0.98911	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USP28	113180799	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.461000	0.80834	2.817000	0.96982	0.563000	0.77884	.		0.428	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1	0		Intron	11:113675589
WDR11	55717	broad.mit.edu	37	10	122626196	122626196	+	Silent	SNP	A	A	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr10:122626196A>T	ENST00000263461.6	+	8	1356	c.1110A>T	c.(1108-1110)gcA>gcT	p.A370A		NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						ATGAGAATGCAGCCGCCCTCG	0.473																																						ENST00000263461.6		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						c.(1108-1110)gcA>gcT		WD repeat domain 11							195.0	183.0	187.0					10																	122626196		2203	4300	6503	SO:0001819	synonymous_variant	55717					integral to membrane		g.chr10:122626196A>T	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.1110A>T	10.37:g.122626196A>T		False	False		Somatic	0					p.A370A	NM_018117.11	NP_060587.8	WXS	Illumina HiSeq	Phase_I	Q9BZH6	WDR11_HUMAN			8	1356	+			370					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	ENST00000263461.6	37	c.1110A>T	CCDS7619.1																																																																																				0.473	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2	0			10:122626196
AP3M2	10947	broad.mit.edu	37	8	42023053	42023053	+	Silent	SNP	C	C	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr8:42023053C>T	ENST00000518421.1	+	7	1069	c.778C>T	c.(778-780)Ctg>Ttg	p.L260L	AP3M2_ENST00000520685.1_Intron|AP3M2_ENST00000396926.3_Silent_p.L260L|AP3M2_ENST00000174653.3_Silent_p.L260L|AP3M2_ENST00000517922.1_Silent_p.L260L	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	260	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			CTTCCGCCTGCTGTCTTACCA	0.453																																						ENST00000518421.1		NA																	0				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17						c.(778-780)Ctg>Ttg		adaptor-related protein complex 3, mu 2 subunit							185.0	162.0	170.0					8																	42023053		2203	4300	6503	SO:0001819	synonymous_variant	10947				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus		g.chr8:42023053C>T	D38293	CCDS6125.1	8p11.2	2008-07-07			ENSG00000070718	ENSG00000070718			570	protein-coding gene	gene with protein product		610469				7601449	Standard	NM_006803		Approved	CLA20, AP47B	uc003xoo.3	P53677	OTTHUMG00000164060	ENST00000518421.1:c.778C>T	8.37:g.42023053C>T		False	False		Somatic	0				AP3M2_ENST00000520685.1_Intron|AP3M2_ENST00000174653.3_Silent_p.L260L|AP3M2_ENST00000517922.1_Silent_p.L260L|AP3M2_ENST00000396926.3_Silent_p.L260L	p.L260L	NM_001134296.1	NP_001127768.1	WXS	Illumina HiSeq	Phase_I	P53677	AP3M2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		7	1069	+	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	260			MHD.		B2RCR0|D3DSY2|Q7Z472	Silent	SNP	ENST00000518421.1	37	c.778C>T	CCDS6125.1																																																																																				0.453	AP3M2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376996.1	0			8:42023053
LUZP1	7798	broad.mit.edu	37	1	23420022	23420022	+	Missense_Mutation	SNP	C	C	G			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr1:23420022C>G	ENST00000302291.4	-	4	1534	c.733G>C	c.(733-735)Ggc>Cgc	p.G245R	LUZP1_ENST00000418342.1_Missense_Mutation_p.G245R|LUZP1_ENST00000374623.3_Missense_Mutation_p.G245R|LUZP1_ENST00000314174.5_Missense_Mutation_p.G245R			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	245					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		GAAGAGATGCCATCCTCAATC	0.393																																						ENST00000302291.4		NA																	0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(733-735)Ggc>Cgc		leucine zipper protein 1							134.0	122.0	126.0					1																	23420022		2203	4300	6503	SO:0001583	missense	7798					nucleus		g.chr1:23420022C>G	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.733G>C	1.37:g.23420022C>G	ENSP00000303758:p.Gly245Arg	False	False		Somatic	0				LUZP1_ENST00000418342.1_Missense_Mutation_p.G245R|LUZP1_ENST00000314174.5_Missense_Mutation_p.G245R|LUZP1_ENST00000374623.3_Missense_Mutation_p.G245R	p.G245R			WXS	Illumina HiSeq	Phase_I	Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	1534	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	245					Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	ENST00000302291.4	37	c.733G>C	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.291930	0.59976	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174;ENST00000471849	T;T;T;T;T	0.43294	2.75;2.75;2.75;2.53;0.95	6.17	6.17	0.99709	.	0.000000	0.49305	D	0.000143	T	0.55289	0.1911	L	0.46157	1.445	0.40391	D	0.979547	D;D	0.71674	0.998;0.998	D;D	0.69142	0.962;0.962	T	0.50947	-0.8767	10	0.41790	T	0.15	.	13.0796	0.59107	0.0:0.9277:0.0:0.0723	.	245;245	Q86V48-2;Q86V48	.;LUZP1_HUMAN	R	245	ENSP00000393460:G245R;ENSP00000363752:G245R;ENSP00000303758:G245R;ENSP00000313705:G245R;ENSP00000428061:G245R	ENSP00000303758:G245R	G	-	1	0	LUZP1	23292609	1.000000	0.71417	0.666000	0.29783	0.800000	0.45204	5.782000	0.68973	2.941000	0.99782	0.655000	0.94253	GGC		0.393	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	0	NM_033631		1:23420022
SLC7A3	84889	broad.mit.edu	37	X	70149579	70149579	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chrX:70149579C>T	ENST00000374299.3	-	2	413	c.269G>A	c.(268-270)cGg>cAg	p.R90Q	SLC7A3_ENST00000298085.4_Missense_Mutation_p.R90Q			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	90					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	ACGGGGAACCCGGGCACCAAA	0.542																																						ENST00000374299.3		NA																	0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31						c.(268-270)cGg>cAg		solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						96.0	69.0	78.0					X																	70149579		2203	4300	6503	SO:0001583	missense	84889				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane		g.chrX:70149579C>T	AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"""Solute carriers"""	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.269G>A	X.37:g.70149579C>T	ENSP00000363417:p.Arg90Gln	True	False		Somatic	0				SLC7A3_ENST00000298085.4_Missense_Mutation_p.R90Q	p.R90Q			WXS	Illumina HiSeq	Phase_I	Q8WY07	CTR3_HUMAN			2	413	-	Renal(35;0.156)		90					D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Missense_Mutation	SNP	ENST00000374299.3	37	c.269G>A	CCDS14404.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.954560	0.92726	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.89875	-2.58;-2.58	4.7	4.7	0.59300	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.94145	0.8122	M	0.87269	2.87	0.80722	D	1	D	0.62365	0.991	P	0.60012	0.867	D	0.95016	0.8156	10	0.62326	D	0.03	.	15.7504	0.77980	0.0:1.0:0.0:0.0	.	90	Q8WY07	CTR3_HUMAN	Q	90	ENSP00000363417:R90Q;ENSP00000298085:R90Q	ENSP00000298085:R90Q	R	-	2	0	SLC7A3	70066304	1.000000	0.71417	0.961000	0.40146	0.906000	0.53458	7.511000	0.81718	2.168000	0.68352	0.529000	0.55759	CGG		0.542	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	0	NM_032803		X:70149579
FAM214A	56204	broad.mit.edu	37	15	52903953	52903953	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr15:52903953T>C	ENST00000261844.7	-	4	375	c.223A>G	c.(223-225)Agg>Ggg	p.R75G	FAM214A_ENST00000546305.2_Missense_Mutation_p.R82G	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	75																	ACCTCAGACCTAGTTCGTCTG	0.403																																						ENST00000261844.7		NA																	0					NA						c.(223-225)Agg>Ggg		family with sequence similarity 214, member A							97.0	91.0	93.0					15																	52903953		1919	4133	6052	SO:0001583	missense	56204							g.chr15:52903953T>C	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.223A>G	15.37:g.52903953T>C	ENSP00000261844:p.Arg75Gly	False	False		Somatic	0				FAM214A_ENST00000546305.2_Missense_Mutation_p.R82G	p.R75G	NM_019600.2	NP_062546.2	WXS	Illumina HiSeq	Phase_I	Q32MH5	K1370_HUMAN			4	375	-			75					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	ENST00000261844.7	37	c.223A>G	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.991452	0.74703	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T	0.37058	1.22;1.22	6.16	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.53449	0.1797	L	0.50333	1.59	0.40786	D	0.983212	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.995	T	0.56498	-0.7969	10	0.72032	D	0.01	.	12.7623	0.57372	0.0:0.0:0.2583:0.7417	.	82;75	F5H8G0;Q32MH5	.;K1370_HUMAN	G	75;75;74;82	ENSP00000261844:R75G;ENSP00000443598:R82G	ENSP00000261844:R75G	R	-	1	2	KIAA1370	50691245	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.285000	0.51716	1.117000	0.41842	0.528000	0.53228	AGG		0.403	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	0	NM_019600		15:52903953
MEFV	4210	broad.mit.edu	37	16	3293394	3293394	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr16:3293394T>C	ENST00000219596.1	-	10	2132	c.2093A>G	c.(2092-2094)gAg>gGg	p.E698G	MEFV_ENST00000339854.4_Missense_Mutation_p.E518G|MEFV_ENST00000536379.1_Missense_Mutation_p.E487G|MEFV_ENST00000541159.1_3'UTR	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	698	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						CGCCTGGTACTCATTTTCCTT	0.532																																						ENST00000219596.1		NA																	0				NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(2092-2094)gAg>gGg		Mediterranean fever	Colchicine(DB01394)						125.0	115.0	119.0					16																	3293394		2197	4300	6497	SO:0001583	missense	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3293394T>C	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.2093A>G	16.37:g.3293394T>C	ENSP00000219596:p.Glu698Gly	False	False		Somatic	0				MEFV_ENST00000339854.4_Missense_Mutation_p.E518G|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Missense_Mutation_p.E487G	p.E698G	NM_000243.2	NP_000234.1	WXS	Illumina HiSeq	Phase_I	O15553	MEFV_HUMAN			10	2132	-			698			B30.2/SPRY.		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	c.2093A>G	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	T	13.37	2.217269	0.39201	.	.	ENSG00000103313	ENST00000219596;ENST00000339854;ENST00000536379	T;T;T	0.61040	0.14;0.14;0.14	5.32	4.23	0.50019	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.135230	0.33691	N	0.004653	T	0.62332	0.2419	L	0.35542	1.07	0.09310	N	0.999998	D	0.89917	1.0	D	0.79108	0.992	T	0.52616	-0.8552	10	0.41790	T	0.15	-17.3674	9.3257	0.37990	0.0:0.0855:0.0:0.9145	.	698	O15553	MEFV_HUMAN	G	698;518;487	ENSP00000219596:E698G;ENSP00000339639:E518G;ENSP00000445079:E487G	ENSP00000219596:E698G	E	-	2	0	MEFV	3233395	0.118000	0.22208	0.061000	0.19648	0.659000	0.38960	2.161000	0.42358	0.979000	0.38497	0.528000	0.53228	GAG		0.532	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	0	NM_000243		16:3293394
EXOC5	10640	broad.mit.edu	37	14	57698417	57698417	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr14:57698417T>A	ENST00000413566.2	-	11	1314	c.955A>T	c.(955-957)Agc>Tgc	p.S319C	EXOC5_ENST00000340918.7_Missense_Mutation_p.S254C	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	319					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle docking (GO:0048278)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						ATCAGCTTGCTGGAAAGATTG	0.303																																						ENST00000413566.2		NA																	0				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						c.(955-957)Agc>Tgc		exocyst complex component 5							60.0	58.0	58.0					14																	57698417		1814	4072	5886	SO:0001583	missense	10640				exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm		g.chr14:57698417T>A	U85946	CCDS45111.1	14q22.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000070367	ENSG00000070367			10696	protein-coding gene	gene with protein product		604469	"""SEC10 (S. cerevisiae)-like 1"", ""SEC10-like 1 (S. cerevisiae)"""	SEC10L1		9119050	Standard	XM_005267272		Approved	SEC10, SEC10P	uc001xct.3	O00471	OTTHUMG00000171309	ENST00000413566.2:c.955A>T	14.37:g.57698417T>A	ENSP00000389934:p.Ser319Cys	False	False		Somatic	0				EXOC5_ENST00000340918.7_Missense_Mutation_p.S254C	p.S319C	NM_006544.3	NP_006535.1	WXS	Illumina HiSeq	Phase_I	O00471	EXOC5_HUMAN			11	1314	-			319					B2R6C5	Missense_Mutation	SNP	ENST00000413566.2	37	c.955A>T	CCDS45111.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.195041	0.78902	.	.	ENSG00000070367	ENST00000413566;ENST00000340918	T;T	0.47177	0.85;0.85	5.62	5.62	0.85841	.	0.079098	0.85682	D	0.000000	T	0.49983	0.1589	L	0.34521	1.04	0.54753	D	0.999987	P;P	0.51791	0.948;0.927	P;P	0.51582	0.545;0.674	T	0.52434	-0.8576	10	0.62326	D	0.03	-7.6021	16.1251	0.81386	0.0:0.0:0.0:1.0	.	254;319	F8W9B8;O00471	.;EXOC5_HUMAN	C	319;254	ENSP00000389934:S319C;ENSP00000342100:S254C	ENSP00000342100:S254C	S	-	1	0	EXOC5	56768170	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.411000	0.66386	2.267000	0.75376	0.477000	0.44152	AGC		0.303	EXOC5-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412905.1	0	NM_006544		14:57698417
ZNF784	147808	broad.mit.edu	37	19	56135868	56135868	+	Silent	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr19:56135868G>A	ENST00000325351.4	-	1	99	c.60C>T	c.(58-60)tcC>tcT	p.S20S	ZNF784_ENST00000591479.1_Silent_p.S20S	NM_203374.1	NP_976308.1	Q8NCA9	ZN784_HUMAN	zinc finger protein 784	20					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			upper_aerodigestive_tract(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		GTGGCTCCTGGGATCGCGACT	0.716																																						ENST00000325351.4		NA																	0				upper_aerodigestive_tract(1)	1						c.(58-60)tcC>tcT		zinc finger protein 784							9.0	10.0	10.0					19																	56135868		2161	4224	6385	SO:0001819	synonymous_variant	147808				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56135868G>A	AK074859	CCDS12930.1	19q13.42	2013-01-08			ENSG00000179922	ENSG00000179922		"""Zinc fingers, C2H2-type"""	33111	protein-coding gene	gene with protein product							Standard	NM_203374		Approved	MGC75238	uc002qll.1	Q8NCA9	OTTHUMG00000180860	ENST00000325351.4:c.60C>T	19.37:g.56135868G>A		True	False		Somatic	0				ZNF784_ENST00000591479.1_Silent_p.S20S	p.S20S	NM_203374.1	NP_976308.1	WXS	Illumina HiSeq	Phase_I	Q8NCA9	ZN784_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	1	99	-			20						Silent	SNP	ENST00000325351.4	37	c.60C>T	CCDS12930.1																																																																																				0.716	ZNF784-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453355.2	0	NM_203374		19:56135868
KCNH1	3756	broad.mit.edu	37	1	210856924	210856924	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr1:210856924C>T	ENST00000271751.4	-	11	2696	c.2669G>A	c.(2668-2670)cGc>cAc	p.R890H	KCNH1_ENST00000367007.4_Missense_Mutation_p.R863H			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	890					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GTTGTCCAGGCGCAAGTCGCT	0.592																																						ENST00000367007.4		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(2587-2589)cGc>cAc		potassium voltage-gated channel, subfamily H (eag-related), member 1							73.0	67.0	69.0					1																	210856924		2203	4300	6503	SO:0001583	missense	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:210856924C>T	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.2669G>A	1.37:g.210856924C>T	ENSP00000271751:p.Arg890His	False	False		Somatic	0				KCNH1_ENST00000271751.4_Missense_Mutation_p.R890H	p.R863H	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	WXS	Illumina HiSeq	Phase_I	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	11	2757	-			890					B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	c.2588G>A	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870929	0.72065	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.99537	-6.03;-6.11	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.99444	0.9803	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.71184	0.858;0.972	D	0.98847	1.0757	10	0.56958	D	0.05	.	18.1618	0.89710	0.0:1.0:0.0:0.0	.	863;890	Q14CL3;O95259	.;KCNH1_HUMAN	H	890;863	ENSP00000271751:R890H;ENSP00000355974:R863H	ENSP00000271751:R890H	R	-	2	0	KCNH1	208923547	1.000000	0.71417	0.907000	0.35723	0.337000	0.28794	7.538000	0.82048	2.290000	0.77057	0.561000	0.74099	CGC		0.592	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	0	NM_002238		1:210856924
SLC9B2	133308	broad.mit.edu	37	4	103988646	103988646	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr4:103988646T>C	ENST00000394785.3	-	2	693	c.62A>G	c.(61-63)tAc>tGc	p.Y21C	SLC9B2_ENST00000339611.4_Missense_Mutation_p.Y21C|SLC9B2_ENST00000503230.1_Missense_Mutation_p.Y21C|SLC9B2_ENST00000362026.3_Missense_Mutation_p.Y21C|SLC9B2_ENST00000503103.1_Missense_Mutation_p.Y21C|SLC9B2_ENST00000505838.1_5'UTR	NM_178833.4	NP_849155.2	Q86UD5	SL9B2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	21					ion transmembrane transport (GO:0034220)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	solute:proton antiporter activity (GO:0015299)										GGAGGGCGTGTAATTCATTCC	0.373																																						ENST00000394785.3		NA																	0					NA						c.(61-63)tAc>tGc		solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2							287.0	242.0	257.0					4																	103988646		2203	4300	6503	SO:0001583	missense	133308				sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity	g.chr4:103988646T>C	AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038		"""Solute carriers"""	25143	protein-coding gene	gene with protein product		611789	"""Na+/H+ exchanger domain containing 2"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 2"""	NHEDC2		18600791	Standard	XM_005262758		Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000394785.3:c.62A>G	4.37:g.103988646T>C	ENSP00000378265:p.Tyr21Cys	False	False		Somatic	0				SLC9B2_ENST00000503103.1_Missense_Mutation_p.Y21C|SLC9B2_ENST00000505838.1_5'UTR|SLC9B2_ENST00000503230.1_Missense_Mutation_p.Y21C|SLC9B2_ENST00000362026.3_Missense_Mutation_p.Y21C|SLC9B2_ENST00000339611.4_Missense_Mutation_p.Y21C	p.Y21C	NM_178833.4	NP_849155.2	WXS	Illumina HiSeq	Phase_I	Q86UD5	NHDC2_HUMAN			2	693	-			21					B5ME52|Q6ZMD8|Q96D95	Missense_Mutation	SNP	ENST00000394785.3	37	c.62A>G	CCDS3662.1	.	.	.	.	.	.	.	.	.	.	T	6.971	0.549224	0.13374	.	.	ENSG00000164038	ENST00000362026;ENST00000339611;ENST00000394785;ENST00000503103;ENST00000503230;ENST00000503818	T;T;T;T;T	0.23147	1.97;1.95;1.97;1.92;1.96	3.67	-1.82	0.07857	.	1.272010	0.05438	N	0.547110	T	0.15955	0.0384	L	0.27053	0.805	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.28839	-1.0031	10	0.39692	T	0.17	14.0788	3.9267	0.09267	0.0:0.331:0.1927:0.4763	.	21;21;21	B7Z676;E9PE63;Q86UD5	.;.;SL9B2_HUMAN	C	21	ENSP00000354574:Y21C;ENSP00000345241:Y21C;ENSP00000378265:Y21C;ENSP00000425385:Y21C;ENSP00000422477:Y21C	ENSP00000345241:Y21C	Y	-	2	0	SLC9B2	104208095	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	0.139000	0.16036	-0.289000	0.09038	-0.250000	0.11733	TAC		0.373	SLC9B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253805.1	0	NM_178833		4:103988646
ALMS1P	200420	broad.mit.edu	37	2	73901099	73901099	+	RNA	SNP	C	C	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr2:73901099C>T	ENST00000450720.1	+	0	897					NR_003683.2		Q96L16	ALM1L_HUMAN	Alstrom syndrome 1 pseudogene						endosomal transport (GO:0016197)|regulation of stress fiber assembly (GO:0051492)												CCACCAGAATCGCATGCGCCC	0.552																																						ENST00000450720.1		NA																	0					NA															76.0	64.0	67.0					2																	73901099		692	1591	2283			0							g.chr2:73901099C>T	BC014492		2p13.2	2008-01-31	2008-01-31	2008-01-31	ENSG00000163016	ENSG00000163016			29586	pseudogene	pseudogene			"""Alstrom syndrome 1-like"""	ALMS1L		12477932	Standard	NR_003683		Approved		uc010yrl.2	Q96L16	OTTHUMG00000152773		2.37:g.73901099C>T		False	False		Somatic	0						NR_003683.2		WXS	Illumina HiSeq	Phase_I					0	897	+			NA						RNA	SNP	ENST00000450720.1	37																																																																																						0.552	ALMS1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000339824.1	0	NR_003683		2:73901099
SLC6A2	6530	broad.mit.edu	37	16	55733527	55733527	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr16:55733527G>T	ENST00000379906.2	+	11	1806	c.1551G>T	c.(1549-1551)tgG>tgT	p.W517C	SLC6A2_ENST00000414754.3_Missense_Mutation_p.W517C|SLC6A2_ENST00000567238.1_Missense_Mutation_p.W412C|SLC6A2_ENST00000219833.8_Missense_Mutation_p.W517C|SLC6A2_ENST00000568943.1_Missense_Mutation_p.W517C|SLC6A2_ENST00000566163.1_Missense_Mutation_p.W472C|SLC6A2_ENST00000561820.1_Missense_Mutation_p.W517C	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	517					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GTCTATACTGGAGACTGTGCT	0.592																																						ENST00000379906.2		NA																	0				breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(1549-1551)tgG>tgT		solute carrier family 6 (neurotransmitter transporter), member 2	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)						240.0	167.0	192.0					16																	55733527		2198	4300	6498	SO:0001583	missense	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55733527G>T		CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.1551G>T	16.37:g.55733527G>T	ENSP00000369237:p.Trp517Cys	False	False		Somatic	0				SLC6A2_ENST00000561820.1_Missense_Mutation_p.W517C|SLC6A2_ENST00000568943.1_Missense_Mutation_p.W517C|SLC6A2_ENST00000219833.8_Missense_Mutation_p.W517C|SLC6A2_ENST00000566163.1_Missense_Mutation_p.W472C|SLC6A2_ENST00000414754.3_Missense_Mutation_p.W517C|SLC6A2_ENST00000567238.1_Missense_Mutation_p.W412C	p.W517C	NM_001043.3	NP_001034.1	WXS	Illumina HiSeq	Phase_I	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	11	1806	+			517					B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	ENST00000379906.2	37	c.1551G>T	CCDS10754.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.415365	0.83449	.	.	ENSG00000103546	ENST00000414754;ENST00000537705;ENST00000379906;ENST00000219833	T;T;T	0.79033	-1.23;-1.23;-1.23	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.92227	0.7535	H	0.96142	3.775	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.998;0.998	D	0.94353	0.7581	10	0.87932	D	0	.	18.2862	0.90114	0.0:0.0:1.0:0.0	.	517;231;412;517	Q96KH8;F5H0T4;B4DX48;P23975	.;.;.;SC6A2_HUMAN	C	517;231;517;517	ENSP00000394956:W517C;ENSP00000369237:W517C;ENSP00000219833:W517C	ENSP00000219833:W517C	W	+	3	0	SLC6A2	54291028	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.315000	0.96313	2.596000	0.87737	0.650000	0.86243	TGG		0.592	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2	0			16:55733527
CHST12	55501	broad.mit.edu	37	7	2473140	2473140	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr7:2473140G>A	ENST00000258711.6	+	2	1001	c.866G>A	c.(865-867)cGc>cAc	p.R289H		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	289					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GCCTCGGCGCGCGAGGCCTTC	0.652																																						ENST00000258711.6		NA																	0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(865-867)cGc>cAc		carbohydrate (chondroitin 4) sulfotransferase 12							43.0	45.0	44.0					7																	2473140		2202	4295	6497	SO:0001583	missense	55501				dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding	g.chr7:2473140G>A	AF239822	CCDS5333.1	7p22	2007-03-14			ENSG00000136213	ENSG00000136213	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17423	protein-coding gene	gene with protein product		610129				10781601	Standard	NM_018641		Approved	C4S-2, C4ST2	uc021zyu.1	Q9NRB3	OTTHUMG00000023849	ENST00000258711.6:c.866G>A	7.37:g.2473140G>A	ENSP00000258711:p.Arg289His	True	False		Somatic	0					p.R289H	NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	WXS	Illumina HiSeq	Phase_I	Q9NRB3	CHSTC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)	2	1001	+		Ovarian(82;0.0253)	289					A4D1Z9|Q502W3|Q9NXY7	Missense_Mutation	SNP	ENST00000258711.6	37	c.866G>A	CCDS5333.1	.	.	.	.	.	.	.	.	.	.	G	9.812	1.183472	0.21870	.	.	ENSG00000136213	ENST00000258711	T	0.74106	-0.81	5.27	4.38	0.52667	.	1.737820	0.03407	N	0.204206	T	0.66626	0.2808	L	0.32530	0.975	0.23673	N	0.997141	P	0.34615	0.459	B	0.19666	0.026	T	0.57825	-0.7744	10	0.48119	T	0.1	-6.0021	13.4009	0.60883	0.0759:0.0:0.9241:0.0	.	289	Q9NRB3	CHSTC_HUMAN	H	289	ENSP00000258711:R289H	ENSP00000258711:R289H	R	+	2	0	CHST12	2439666	0.995000	0.38212	0.794000	0.32065	0.913000	0.54294	2.682000	0.46934	1.221000	0.43506	0.462000	0.41574	CGC		0.652	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060170.3	0	NM_018641		7:2473140
FAM126A	84668	broad.mit.edu	37	7	23000935	23000935	+	Silent	SNP	A	A	G			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr7:23000935A>G	ENST00000432176.2	-	9	982	c.750T>C	c.(748-750)aaT>aaC	p.N250N	FAM126A_ENST00000409923.1_Silent_p.N250N|FAM126A_ENST00000498833.1_5'UTR	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	250					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						CCCATTCTCCATTATAACTAT	0.294																																						ENST00000432176.2		NA																	0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						c.(748-750)aaT>aaC		family with sequence similarity 126, member A							55.0	60.0	58.0					7																	23000935		2203	4299	6502	SO:0001819	synonymous_variant	84668					cytoplasm|membrane	signal transducer activity	g.chr7:23000935A>G	BC018710	CCDS5377.1	7p15.3	2008-10-02			ENSG00000122591	ENSG00000122591			24587	protein-coding gene	gene with protein product	"""down regulated by Ctnnb1, a"""	610531				10910037, 16951682	Standard	NM_032581		Approved	DRCTNNB1A, HCC, HYCC1, hyccin	uc003svm.4	Q9BYI3	OTTHUMG00000128435	ENST00000432176.2:c.750T>C	7.37:g.23000935A>G		False	False		Somatic	0				FAM126A_ENST00000409923.1_Silent_p.N250N|FAM126A_ENST00000498833.1_5'UTR	p.N250N	NM_032581.3	NP_115970.2	WXS	Illumina HiSeq	Phase_I	Q9BYI3	HYCCI_HUMAN			9	982	-			250					A4D145|Q6N010|Q75MR4|Q7LDZ4|Q96MX1|Q96NQ6	Silent	SNP	ENST00000432176.2	37	c.750T>C	CCDS5377.1	.	.	.	.	.	.	.	.	.	.	A	7.238	0.600710	0.13939	.	.	ENSG00000122591	ENST00000440481	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	T	0.71239	0.3316	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70722	-0.4794	4	.	.	.	-20.4149	15.2237	0.73333	1.0:0.0:0.0:0.0	.	.	.	.	T	302	.	.	M	-	2	0	FAM126A	22967460	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	3.815000	0.55651	2.008000	0.58898	0.528000	0.53228	ATG		0.294	FAM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250230.1	0	NM_032581		7:23000935
MTO1	25821	broad.mit.edu	37	6	74210401	74210401	+	Silent	SNP	A	A	G			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr6:74210401A>G	ENST00000370300.4	+	13	2187	c.2097A>G	c.(2095-2097)tcA>tcG	p.S699S	MTO1_ENST00000415954.2_Silent_p.S714S|MTO1_ENST00000370305.1_Silent_p.S625S|MTO1_ENST00000498286.1_Silent_p.S674S	NM_012123.3|NM_133645.2	NP_036255.2|NP_598400.1	Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	699					mitochondrial tRNA wobble uridine modification (GO:0070899)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						TGAATGAATCATCCAAGACTG	0.398																																						ENST00000498286.1		NA																	0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						c.(2020-2022)tcA>tcG		mitochondrial tRNA translation optimization 1							90.0	86.0	87.0					6																	74210401		2203	4300	6503	SO:0001819	synonymous_variant	25821				tRNA processing	mitochondrion	flavin adenine dinucleotide binding	g.chr6:74210401A>G	AF132937	CCDS4979.1, CCDS34485.1, CCDS47452.1	6q14.1	2013-05-07	2013-05-07		ENSG00000135297	ENSG00000135297			19261	protein-coding gene	gene with protein product		614667	"""mitochondrial translation optimization 1 homolog (S. cerevisiae)"""			12011058, 22608499	Standard	NM_012123		Approved		uc003pgy.4	Q9Y2Z2	OTTHUMG00000015032	ENST00000370300.4:c.2097A>G	6.37:g.74210401A>G		False	False		Somatic	0				MTO1_ENST00000415954.2_Silent_p.S714S|MTO1_ENST00000370305.1_Silent_p.S625S|MTO1_ENST00000370300.4_Silent_p.S699S	p.S674S			WXS	Illumina HiSeq	Phase_I	Q9Y2Z2	MTO1_HUMAN			12	2299	+			699					B3KQB5|Q5SWL2|Q5SWL3|Q5SWL4|Q8NDN7|Q8WZ57|Q96FE6|Q9BS06	Silent	SNP	ENST00000370300.4	37	c.2022A>G	CCDS4979.1																																																																																				0.398	MTO1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041215.2	0	NM_012123		6:74210401
CAD	790	broad.mit.edu	37	2	27449518	27449518	+	Splice_Site	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr2:27449518G>A	ENST00000403525.1	+	13	2111		c.e13+1		CAD_ENST00000264705.4_Splice_Site			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase						apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGAGCTCAGGTACGAGGATG	0.542																																						ENST00000264705.4		NA																	0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.e14+1		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						63.0	58.0	60.0					2																	27449518		2203	4300	6503	SO:0001630	splice_region_variant	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27449518G>A	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.1967+1G>A	2.37:g.27449518G>A		False	False		Somatic	0				CAD_ENST00000403525.1_Splice_Site		NM_004341.3	NP_004332.2	WXS	Illumina HiSeq	Phase_I	P27708	PYR1_HUMAN			14	2318	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		NA					O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Splice_Site	SNP	ENST00000403525.1	37			.	.	.	.	.	.	.	.	.	.	G	19.44	3.828761	0.71258	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0413	0.86490	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CAD	27303022	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	8.942000	0.92970	2.358000	0.79984	0.485000	0.47835	.		0.542	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1	0		Intron	2:27449518
SPEN	23013	broad.mit.edu	37	1	16262018	16262018	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr1:16262018C>T	ENST00000375759.3	+	11	9487	c.9283C>T	c.(9283-9285)Cag>Tag	p.Q3095*		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3095					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCACCTCTCCCAGGGCGAGGT	0.617																																						ENST00000375759.3		NA																	0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(9283-9285)Cag>Tag		spen family transcriptional repressor							81.0	66.0	71.0					1																	16262018		2203	4300	6503	SO:0001587	stop_gained	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16262018C>T		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.9283C>T	1.37:g.16262018C>T	ENSP00000364912:p.Gln3095*	True	False		Somatic	0					p.Q3095*	NM_015001.2	NP_055816.2	WXS	Illumina HiSeq	Phase_I	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	9487	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	3095					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Nonsense_Mutation	SNP	ENST00000375759.3	37	c.9283C>T	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	50	17.181384	0.99881	.	.	ENSG00000065526	ENST00000375759	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-12.7426	19.0275	0.92939	0.0:1.0:0.0:0.0	.	.	.	.	X	3095	.	ENSP00000364912:Q3095X	Q	+	1	0	SPEN	16134605	0.998000	0.40836	0.977000	0.42913	0.846000	0.48090	3.935000	0.56560	2.494000	0.84150	0.491000	0.48974	CAG		0.617	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	0	NM_015001		1:16262018
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_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
RRN3P2	653390	broad.mit.edu	37	16	29110438	29110438	+	RNA	SNP	T	T	C			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr16:29110438T>C	ENST00000564580.1	+	0	1111							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.L368P(6)									TTGCAGTATCTTCAGAGTCTG	0.328																																						ENST00000564580.1		NA																	6	Substitution - Missense(6)	p.L368P(6)	endometrium(5)|kidney(1)		NA																																														0							g.chr16:29110438T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110438T>C		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	1111	+			NA						RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	t	5.164	0.215759	0.09810	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	U	0.000008	T	0.52645	0.1747	.	.	.	.	.	.	.	.	.	.	.	.	T	0.63580	-0.6605	5	0.56958	D	0.05	.	7.5159	0.27600	0.0:0.0:0.0:1.0	.	.	.	.	P	368	.	ENSP00000398611:L368P	L	+	2	0	AC009093.1	29017939	1.000000	0.71417	0.752000	0.31206	0.354000	0.29330	6.384000	0.73177	0.893000	0.36288	0.155000	0.16302	CTT		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	0	NR_003369		16:29110438
OR2A14	135941	broad.mit.edu	37	7	143826995	143826995	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr7:143826995C>T	ENST00000408899.2	+	1	845	c.790C>T	c.(790-792)Cgc>Tgc	p.R264C		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					CCCCAAGTCCCGCCATCCTGA	0.542																																						ENST00000408899.2		NA																	0				large_intestine(4)|lung(17)|skin(1)	22						c.(790-792)Cgc>Tgc		olfactory receptor, family 2, subfamily A, member 14							115.0	121.0	119.0					7																	143826995		1981	4170	6151	SO:0001583	missense	135941				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143826995C>T		CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"""GPCR / Class A : Olfactory receptors"""	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.790C>T	7.37:g.143826995C>T	ENSP00000386137:p.Arg264Cys	True	False		Somatic	0					p.R264C	NM_001001659.1	NP_001001659.1	WXS	Illumina HiSeq	Phase_I	Q96R47	O2A14_HUMAN			1	845	+	Melanoma(164;0.0783)		264					Q6IF41|Q8NGT8	Missense_Mutation	SNP	ENST00000408899.2	37	c.790C>T	CCDS43672.1	.	.	.	.	.	.	.	.	.	.	C	4.537	0.099753	0.08681	.	.	ENSG00000221938	ENST00000408899	T	0.00130	8.69	4.18	-5.49	0.02584	GPCR, rhodopsin-like superfamily (1);	2.119410	0.03153	U	0.168207	T	0.00144	0.0004	L	0.35414	1.06	0.09310	N	1	B	0.19817	0.039	B	0.21546	0.035	T	0.33904	-0.9850	10	0.72032	D	0.01	0.4492	11.4184	0.49967	0.7699:0.1508:0.0:0.0792	.	264	Q96R47	O2A14_HUMAN	C	264	ENSP00000386137:R264C	ENSP00000386137:R264C	R	+	1	0	OR2A14	143457928	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.560000	0.00921	-0.882000	0.03987	-0.310000	0.09108	CGC		0.542	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1	0			7:143826995
PCDHGB7	56099	broad.mit.edu	37	5	140798705	140798705	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr5:140798705A>G	ENST00000398594.2	+	1	1279	c.1279A>G	c.(1279-1281)Agg>Ggg	p.R427G	PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	427	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCACAGACAGGGGCAAGCC	0.512																																						ENST00000398594.2		NA																	0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56						c.(1279-1281)Agg>Ggg									41.0	49.0	46.0					5																	140798705		2137	4233	6370	SO:0001583	missense	0							g.chr5:140798705A>G	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1279A>G	5.37:g.140798705A>G	ENSP00000381594:p.Arg427Gly	True	False		Somatic	0				PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron	p.R427G	NM_018927.3	NP_061750.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1279	+			NA					Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	c.1279A>G	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	a	0.022	-1.406676	0.01155	.	.	ENSG00000254122	ENST00000398594	T	0.01665	4.7	5.48	2.98	0.34508	Cadherin (4);Cadherin-like (1);	0.246709	0.20343	U	0.094184	T	0.01092	0.0036	N	0.12611	0.24	0.09310	N	1	B;B	0.17038	0.02;0.009	B;B	0.20384	0.029;0.018	T	0.49504	-0.8933	10	0.19590	T	0.45	.	4.0845	0.09940	0.5796:0.2387:0.0668:0.1149	.	427;427	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	G	427	ENSP00000381594:R427G	ENSP00000381594:R427G	R	+	1	2	PCDHGB7	140778889	0.000000	0.05858	0.933000	0.37362	0.268000	0.26511	0.449000	0.21744	0.338000	0.23692	0.402000	0.26972	AGG		0.512	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	0	NM_018927		5:140798705
PTPN5	84867	broad.mit.edu	37	11	18763931	18763931	+	Silent	SNP	G	G	A	rs367543231		TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr11:18763931G>A	ENST00000358540.2	-	7	1033	c.603C>T	c.(601-603)atC>atT	p.I201I	PTPN5_ENST00000396168.1_Silent_p.I177I|PTPN5_ENST00000396167.2_Silent_p.I169I|PTPN5_ENST00000477854.1_Silent_p.I5I|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396170.1_Silent_p.I169I|PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000396171.4_Silent_p.I201I	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	201					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						AGTCATCCTCGATCTTCTCCT	0.617																																						ENST00000396170.1		NA																	0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						c.(505-507)atC>atT		protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)							71.0	75.0	73.0					11																	18763931		2199	4293	6492	SO:0001819	synonymous_variant	84867					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr11:18763931G>A	BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.603C>T	11.37:g.18763931G>A		False	False		Somatic	0				PTPN5_ENST00000358540.2_Silent_p.I201I|PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000396168.1_Silent_p.I177I|PTPN5_ENST00000396171.4_Silent_p.I201I|PTPN5_ENST00000396167.2_Silent_p.I169I|PTPN5_ENST00000477854.1_Silent_p.I5I	p.I169I	NM_001278236.1	NP_001265165.1	WXS	Illumina HiSeq	Phase_I	P54829	PTN5_HUMAN			7	1771	-			201					B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Silent	SNP	ENST00000358540.2	37	c.507C>T	CCDS7845.1																																																																																				0.617	PTPN5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259196.2	0	NM_001039970		11:18763931
PIWIL1	9271	broad.mit.edu	37	12	130827607	130827607	+	Missense_Mutation	SNP	C	C	T	rs144603967	byFrequency	TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr12:130827607C>T	ENST00000245255.3	+	3	423	c.151C>T	c.(151-153)Cgg>Tgg	p.R51W		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	51					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TGGCCGTGGACGGCAGAGAGG	0.443													C|||	2	0.000399361	0.0	0.0	5008	,	,		14436	0.002		0.0	False		,,,				2504	0.0					ENST00000245255.3		NA																	0				breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57						c.(151-153)Cgg>Tgg		piwi-like RNA-mediated gene silencing 1							67.0	59.0	62.0					12																	130827607		2203	4300	6503	SO:0001583	missense	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130827607C>T	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.151C>T	12.37:g.130827607C>T	ENSP00000245255:p.Arg51Trp	False	False		Somatic	0					p.R51W	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	WXS	Illumina HiSeq	Phase_I	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	3	423	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		51					A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	c.151C>T	CCDS9268.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	16.69	3.194066	0.58017	.	.	ENSG00000125207	ENST00000245255;ENST00000546060;ENST00000539400;ENST00000539995;ENST00000535956;ENST00000542723	T;T;T;T;T;T	0.09911	2.93;2.93;2.93;2.93;2.93;2.93	5.13	5.13	0.70059	.	0.197782	0.43579	D	0.000552	T	0.36110	0.0955	M	0.77820	2.39	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	T	0.12426	-1.0548	10	0.72032	D	0.01	-12.2295	17.5036	0.87738	0.0:1.0:0.0:0.0	.	51;51	Q96J94;Q96J94-2	PIWL1_HUMAN;.	W	51	ENSP00000245255:R51W;ENSP00000442086:R51W;ENSP00000440677:R51W;ENSP00000439096:R51W;ENSP00000444353:R51W;ENSP00000438582:R51W	ENSP00000245255:R51W	R	+	1	2	PIWIL1	129393560	1.000000	0.71417	0.836000	0.33094	0.417000	0.31264	3.696000	0.54757	2.544000	0.85801	0.467000	0.42956	CGG		0.443	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1	0			12:130827607
PGPEP1L	145814	broad.mit.edu	37	15	99512680	99512680	+	Silent	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr15:99512680G>A	ENST00000378919.6	-	4	550	c.345C>T	c.(343-345)gaC>gaT	p.D115D	PGPEP1L_ENST00000535714.1_Silent_p.D61D|RP11-654A16.3_ENST00000559468.1_RNA	NM_001102612.2	NP_001096082.2	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like	115							cysteine-type peptidase activity (GO:0008234)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						AAAAGATCACGTCGACACCCT	0.632																																						ENST00000535714.1		NA																	0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						c.(181-183)gaC>gaT		pyroglutamyl-peptidase I-like							118.0	120.0	120.0					15																	99512680		2191	4294	6485	SO:0001819	synonymous_variant	145814				proteolysis		cysteine-type peptidase activity	g.chr15:99512680G>A		CCDS53977.1, CCDS58400.1	15q26.3	2010-02-16			ENSG00000183571	ENSG00000183571			27080	protein-coding gene	gene with protein product							Standard	NM_001102612		Approved		uc002bum.3	A6NFU8		ENST00000378919.6:c.345C>T	15.37:g.99512680G>A		False	False		Somatic	0				RP11-654A16.3_ENST00000559468.1_RNA|PGPEP1L_ENST00000378919.6_Silent_p.D115D	p.D61D	NM_001167902.1	NP_001161374.1	WXS	Illumina HiSeq	Phase_I	A6NFU8	PGPIL_HUMAN			4	988	-			115					H0YF86	Silent	SNP	ENST00000378919.6	37	c.183C>T	CCDS53977.1																																																																																				0.632	PGPEP1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415703.1	0	NM_001102612.2		15:99512680
ADRBK1	156	broad.mit.edu	37	11	67048254	67048254	+	Splice_Site	SNP	C	C	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr11:67048254C>T	ENST00000308595.5	+	7	845	c.555C>T	c.(553-555)caC>caT	p.H185H	ADRBK1_ENST00000526285.1_Splice_Site_p.H185H	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	185	N-terminal.			SDKFTRFCQWKNVELNIH -> RISSHGFASGRMWSSTST (in Ref. 3; AAB60689). {ECO:0000305}.	activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	TCAACATCCACGTGAGTGGGC	0.597																																						ENST00000308595.5		NA																	0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22						c.(553-555)caC>caT		adrenergic, beta, receptor kinase 1	Adenosine triphosphate(DB00171)						182.0	182.0	182.0					11																	67048254		2200	4295	6495	SO:0001630	splice_region_variant	156				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr11:67048254C>T	X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.555+1C>T	11.37:g.67048254C>T		False	False		Somatic	0				ADRBK1_ENST00000526285.1_Splice_Site_p.H185H	p.H185H	NM_001619.3	NP_001610.2	WXS	Illumina HiSeq	Phase_I	P25098	ARBK1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		7	845	+			185	SDKFTRFCQWKNVELNIH -> RISSHGFASGRMWSSTST (in Ref. 3; AAB60689).		N-terminal.		B0ZBE1|Q13837|Q6GTT3	Splice_Site	SNP	ENST00000308595.5	37	c.555C>T	CCDS8156.1																																																																																				0.597	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	0	NM_001619	Silent	11:67048254
KMT2B	9757	broad.mit.edu	37	19	36219013	36219013	+	Silent	SNP	G	G	A	rs371795012		TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr19:36219013G>A	ENST00000222270.7	+	19	4512	c.4512G>A	c.(4510-4512)gcG>gcA	p.A1504A	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Silent_p.A1504A	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1504					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										TAGAATCTGCGTTCGGCTGGT	0.632																																						ENST00000420124.1		NA																	0					NA						c.(4510-4512)gcG>gcA		lysine (K)-specific methyltransferase 2B		G		0,3912		0,0,1956	17.0	17.0	17.0		4512	-1.5	1.0	19		17	1,8295		0,1,4147	no	coding-synonymous	MLL4	NM_014727.1		0,1,6103	AA,AG,GG		0.0121,0.0,0.0082		1504/2716	36219013	1,12207	1956	4148	6104	SO:0001819	synonymous_variant	9757							g.chr19:36219013G>A	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.4512G>A	19.37:g.36219013G>A		False	False		Somatic	0				KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000222270.7_Silent_p.A1504A	p.A1504A			WXS	Illumina HiSeq	Phase_I					19	4512	+			NA					O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Silent	SNP	ENST00000222270.7	37	c.4512G>A	CCDS46055.1																																																																																				0.632	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	NM_014727		19:36219013
ECT2	1894	broad.mit.edu	37	3	172534509	172534509	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr3:172534509C>T	ENST00000392692.3	+	24	2713	c.2537C>T	c.(2536-2538)aCt>aTt	p.T846I	ECT2_ENST00000417960.1_Missense_Mutation_p.T814I|ECT2_ENST00000232458.5_Missense_Mutation_p.T815I|ECT2_ENST00000427830.1_Missense_Mutation_p.T815I|ECT2_ENST00000540509.1_Missense_Mutation_p.T846I|ECT2_ENST00000441497.2_Missense_Mutation_p.T815I	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	846					activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TTCTCCAAAACTCCAAAAAGA	0.378																																						ENST00000417960.1		NA																	0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2440-2442)aCt>aTt		epithelial cell transforming sequence 2 oncogene							64.0	66.0	65.0					3																	172534509		2203	4299	6502	SO:0001583	missense	1894				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr3:172534509C>T	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.2537C>T	3.37:g.172534509C>T	ENSP00000376457:p.Thr846Ile	True	False		Somatic	0				ECT2_ENST00000232458.5_Missense_Mutation_p.T815I|ECT2_ENST00000427830.1_Missense_Mutation_p.T815I|ECT2_ENST00000540509.1_Missense_Mutation_p.T846I|ECT2_ENST00000441497.2_Missense_Mutation_p.T815I|ECT2_ENST00000392692.3_Missense_Mutation_p.T846I	p.T814I	NM_001258316.1	NP_001245245.1	WXS	Illumina HiSeq	Phase_I	Q9H8V3	ECT2_HUMAN	Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)		24	2918	+	Ovarian(172;0.00197)|Breast(254;0.158)		815					Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	c.2441C>T	CCDS58860.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.523463	0.85600	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509	T;T;T;T;T;T	0.75260	-0.8;-0.86;-0.92;-0.8;-0.8;-0.86	5.58	5.58	0.84498	.	0.129180	0.64402	D	0.000001	D	0.84465	0.5478	M	0.73217	2.22	0.80722	D	1	P;D;D;D;B	0.63880	0.867;0.967;0.966;0.993;0.134	P;P;P;P;B	0.61003	0.533;0.823;0.744;0.882;0.041	D	0.85923	0.1447	10	0.87932	D	0	-7.6751	18.3345	0.90283	0.0:1.0:0.0:0.0	.	846;291;846;815;814	Q9H8V3;Q96SJ9;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.;.	I	815;846;815;814;815;846	ENSP00000232458:T815I;ENSP00000376457:T846I;ENSP00000401910:T815I;ENSP00000415876:T814I;ENSP00000412259:T815I;ENSP00000443160:T846I	ENSP00000232458:T815I	T	+	2	0	ECT2	174017203	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.978000	0.70501	2.630000	0.89119	0.561000	0.74099	ACT		0.378	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	0	NM_018098		3:172534509
POM121L9P	29774	broad.mit.edu	37	22	24658515	24658515	+	RNA	SNP	C	C	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr22:24658515C>T	ENST00000414583.2	+	0	2932					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		TCATCATCACCGACATGTCCT	0.562																																						ENST00000414583.2		NA																	0					NA																																														0							g.chr22:24658515C>T	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24658515C>T		False	False		Somatic	0						NR_003714.1		WXS	Illumina HiSeq	Phase_I					0	2932	+			NA						RNA	SNP	ENST00000414583.2	37																																																																																						0.562	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	0	NM_014549		22:24658515
MOV10L1	54456	broad.mit.edu	37	22	50589311	50589311	+	Missense_Mutation	SNP	G	G	A	rs372963947		TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr22:50589311G>A	ENST00000262794.5	+	21	2958	c.2875G>A	c.(2875-2877)Gca>Aca	p.A959T	MOV10L1_ENST00000395852.1_Missense_Mutation_p.A86T|MOV10L1_ENST00000395858.3_Missense_Mutation_p.A959T|MOV10L1_ENST00000545383.1_Missense_Mutation_p.A959T|MOV10L1_ENST00000354853.2_Intron|MOV10L1_ENST00000540615.1_Missense_Mutation_p.A939T|MOV10L1_ENST00000395843.1_Intron	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	959					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TGCTTGTGGCGCACATAATCC	0.577																																						ENST00000262794.5		NA																	0				breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67						c.(2875-2877)Gca>Aca		Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)		G	THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	129.0	106.0	113.0		2875,2815,256,2875	2.0	0.3	22		113	1,8599		0,1,4299	no	missense,missense,missense,missense	MOV10L1	NM_001164104.1,NM_001164105.1,NM_001164106.1,NM_018995.2	58,58,58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	959/1166,939/1166,86/339,959/1212	50589311	1,13005	2203	4300	6503	SO:0001583	missense	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50589311G>A	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.2875G>A	22.37:g.50589311G>A	ENSP00000262794:p.Ala959Thr	False	False		Somatic	0				MOV10L1_ENST00000395852.1_Missense_Mutation_p.A86T|MOV10L1_ENST00000354853.2_Intron|MOV10L1_ENST00000395858.3_Missense_Mutation_p.A959T|MOV10L1_ENST00000540615.1_Missense_Mutation_p.A939T|MOV10L1_ENST00000545383.1_Missense_Mutation_p.A959T|MOV10L1_ENST00000395843.1_Intron	p.A959T	NM_018995.2	NP_061868.1	WXS	Illumina HiSeq	Phase_I	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	21	2958	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	959					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	c.2875G>A	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	.	9.423	1.083604	0.20309	0.0	1.16E-4	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615;ENST00000395852	D;D;T;D;D	0.92752	-1.86;-1.86;-1.44;-2.06;-3.1	5.47	2.05	0.26809	.	0.372221	0.26106	N	0.026316	D	0.84906	0.5576	L	0.27053	0.805	0.21220	N	0.999751	P;B;P;P	0.46987	0.863;0.019;0.587;0.888	B;B;B;P	0.44561	0.324;0.016;0.181;0.453	T	0.76099	-0.3083	10	0.33141	T	0.24	-14.1676	6.3649	0.21449	0.1608:0.0:0.4837:0.3554	.	939;86;959;959	F5H403;Q9BXT6-2;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	T	959;959;959;939;86	ENSP00000438978:A959T;ENSP00000262794:A959T;ENSP00000379199:A959T;ENSP00000438542:A939T;ENSP00000379193:A86T	ENSP00000262794:A959T	A	+	1	0	MOV10L1	48931438	0.899000	0.30636	0.334000	0.25495	0.053000	0.15095	1.890000	0.39728	0.670000	0.31165	-0.136000	0.14681	GCA		0.577	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	0	NM_018995		22:50589311
RYR1	6261	broad.mit.edu	37	19	38939147	38939147	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr19:38939147C>T	ENST00000359596.3	+	10	953	c.953C>T	c.(952-954)tCc>tTc	p.S318F	RYR1_ENST00000355481.4_Missense_Mutation_p.S318F|RYR1_ENST00000360985.3_Missense_Mutation_p.S318F			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	318	MIR 4. {ECO:0000255|PROSITE- ProRule:PRU00131}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TTCCGCATCTCCAAGGTCAGT	0.642																																						ENST00000355481.4		NA																	0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(952-954)tCc>tTc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						105.0	98.0	100.0					19																	38939147		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38939147C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.953C>T	19.37:g.38939147C>T	ENSP00000352608:p.Ser318Phe	False	False		Somatic	0				RYR1_ENST00000359596.3_Missense_Mutation_p.S318F|RYR1_ENST00000360985.3_Missense_Mutation_p.S318F	p.S318F	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	WXS	Illumina HiSeq	Phase_I	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		10	1084	+	all_cancers(60;7.91e-06)		318			MIR 4.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.953C>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.080776	0.55753	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.85955	-2.05;-2.05;-2.05	4.51	4.51	0.55191	MIR motif (2);MIR (2);	0.090463	0.46145	U	0.000315	D	0.92315	0.7562	M	0.79926	2.475	0.43863	D	0.996461	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.93476	0.6823	10	0.87932	D	0	.	16.1498	0.81605	0.0:1.0:0.0:0.0	.	318;318	P21817-2;P21817	.;RYR1_HUMAN	F	318	ENSP00000352608:S318F;ENSP00000347667:S318F;ENSP00000354254:S318F	ENSP00000347667:S318F	S	+	2	0	RYR1	43630987	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.239000	0.78182	2.348000	0.79779	0.491000	0.48974	TCC		0.642	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1	0			19:38939147
SF1	7536	broad.mit.edu	37	11	64533556	64533556	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr11:64533556C>T	ENST00000377390.3	-	13	1991	c.1654G>A	c.(1654-1656)Gca>Aca	p.A552T	SF1_ENST00000377394.3_Intron|SF1_ENST00000227503.9_Intron|SF1_ENST00000422298.2_Intron|SF1_ENST00000433274.2_Missense_Mutation_p.A526T|SF1_ENST00000334944.5_Missense_Mutation_p.A552T|SF1_ENST00000377387.1_Intron|SF1_ENST00000489544.1_5'Flank	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	552	Pro-rich.				Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GGAGAAGCTGCGGCAGCCGCC	0.682																																						ENST00000377390.3		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						c.(1654-1656)Gca>Aca		splicing factor 1							24.0	33.0	30.0					11																	64533556		2147	4266	6413	SO:0001583	missense	7536				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding	g.chr11:64533556C>T	D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.1654G>A	11.37:g.64533556C>T	ENSP00000366607:p.Ala552Thr	False	False		Somatic	0				SF1_ENST00000422298.2_Intron|SF1_ENST00000377387.1_Intron|SF1_ENST00000377394.3_Intron|SF1_ENST00000227503.9_Intron|SF1_ENST00000433274.2_Missense_Mutation_p.A526T|SF1_ENST00000334944.5_Missense_Mutation_p.A552T	p.A552T	NM_004630.3	NP_004621.2	WXS	Illumina HiSeq	Phase_I	Q15637	SF01_HUMAN			13	1991	-			552			Pro-rich.		B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP	ENST00000377390.3	37	c.1654G>A	CCDS31599.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.87|11.87	1.767095|1.767095	0.31320|0.31320	.|.	.|.	ENSG00000168066|ENSG00000168066	ENST00000377390;ENST00000334944;ENST00000433274|ENST00000486867	T;T;T|T	0.48836|0.54675	0.8;0.92;0.81|0.56	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	.|.	.|.	.|.	.|.	T|T	0.47637|0.47637	0.1456|0.1456	N|N	0.12182|0.12182	0.205|0.205	0.80722|0.80722	D|D	1|1	B;B|.	0.31611|.	0.223;0.331|.	B;B|.	0.25614|.	0.028;0.062|.	T|T	0.56092|0.56092	-0.8036|-0.8036	9|7	0.87932|0.87932	D|D	0|0	.|.	16.4457|16.4457	0.83928|0.83928	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	552;552|.	Q15637;Q15637-2|.	SF01_HUMAN;.|.	T|H	552;552;526|271	ENSP00000366607:A552T;ENSP00000334414:A552T;ENSP00000396793:A526T|ENSP00000419062:R271H	ENSP00000334414:A552T|ENSP00000419062:R271H	A|R	-|-	1|2	0|0	SF1|SF1	64290132|64290132	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.087000|4.087000	0.57671|0.57671	2.488000|2.488000	0.83962|0.83962	0.561000|0.561000	0.74099|0.74099	GCA|CGC		0.682	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	0	NM_004630		11:64533556
