#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
RRP12	23223	broad.mit.edu	37	10	99125894	99125895	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr10:99125894_99125895insA	ENST00000370992.4	-	29	3598_3599	c.3487_3488insT	c.(3487-3489)aacfs	p.N1163fs	RRP12_ENST00000414986.1_Frame_Shift_Ins_p.N1102fs|RRP12_ENST00000315563.6_Frame_Shift_Ins_p.N1063fs|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000536831.1_Frame_Shift_Ins_p.N881fs	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1163						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CTCCATCTTGTTGCCGTCTGCC	0.599																																						ENST00000370992.4		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(3487-3489)aacfs		ribosomal RNA processing 12 homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	23223					integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr10:99125894_99125895insA		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.3487_3488insT	10.37:g.99125894_99125895insA	ENSP00000360031:p.Asn1163fs	False	False		Somatic	0				RRP12_ENST00000315563.6_Frame_Shift_Ins_p.N1063fs|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000536831.1_Frame_Shift_Ins_p.N881fs|RRP12_ENST00000414986.1_Frame_Shift_Ins_p.N1102fs	p.N1163fs	NM_015179.3	NP_055994.2	WXS	Illumina HiSeq	Phase_I	Q5JTH9	RRP12_HUMAN		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)	29	3598_3599	-		Colorectal(252;0.162)	1163					B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Frame_Shift_Ins	INS	ENST00000370992.4	37	c.3487_3488insT	CCDS7457.1																																																																																				0.599	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	0	NM_015179		10:99125894
RBM4	5936	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000409406.1	+	2	1633_1653	c.856_876delGCTGCTGCTGCAGCAGCAGCC	c.(856-876)gctgctgctgcagcagcagccdel	p.AAAAAAA286del	RBM4_ENST00000578778.1_Intron|RBM14-RBM4_ENST00000412278.2_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000398692.4_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000530235.1_Intron			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	286	Interaction with TNPO3.|Poly-Ala.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615																																						ENST00000412278.2		NA																	0					NA						c.(781-801)gctgctgctgcagcagcagccdel																																						SO:0001651	inframe_deletion	0							g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.856_876delGCTGCTGCTGCAGCAGCAGCC	11.37:g.66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENSP00000386894:p.Ala286_Ala292del	True	False		Somatic	1				RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000578778.1_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000530235.1_Intron	p.AAAAAAA261del	NM_001198845.1	NP_001185774.1	WXS	Illumina HiSeq	Phase_I					2	876_896	+			NA					B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	In_Frame_Del	DEL	ENST00000409406.1	37	c.781_801delGCTGCTGCTGCAGCAGCAGCC	CCDS41676.1																																																																																				0.615	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	0	NM_002896		11:66411364
CTSC	1075	broad.mit.edu	37	11	88027341	88027341	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:88027341delG	ENST00000227266.5	-	7	1339	c.1225delC	c.(1225-1227)cttfs	p.L409fs		NM_001814.4	NP_001805	P53634	CATC_HUMAN	cathepsin C	409					aging (GO:0007568)|immune response (GO:0006955)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of proteolysis involved in cellular protein catabolic process (GO:1903052)|proteolysis (GO:0006508)|response to organic substance (GO:0010033)|T cell mediated cytotoxicity (GO:0001913)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	chaperone binding (GO:0051087)|chloride ion binding (GO:0031404)|cysteine-type peptidase activity (GO:0008234)|peptidase activator activity involved in apoptotic process (GO:0016505)|phosphatase binding (GO:0019902)|serine-type endopeptidase activity (GO:0004252)			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TAGCCCACAAGCAGAACAGCA	0.502																																						ENST00000227266.5		NA																	0				large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22						c.(1225-1227)cttfs		cathepsin C							138.0	111.0	120.0					11																	88027341		2201	4299	6500	SO:0001589	frameshift_variant	1075				immune response	lysosome	cysteine-type endopeptidase activity	g.chr11:88027341delG	AK223038	CCDS8282.1, CCDS31654.1, CCDS44693.1	11q14.2	2014-09-17			ENSG00000109861	ENSG00000109861	3.4.14.1	"""Cathepsins"""	2528	protein-coding gene	gene with protein product	"""dipeptidyl peptidase 1"""	602365		PLS, PALS		7649281, 9092576	Standard	NM_148170		Approved	DPP1	uc001pck.4	P53634	OTTHUMG00000167290	ENST00000227266.5:c.1225delC	11.37:g.88027341delG	ENSP00000227266:p.Leu409fs	False	False		Somatic	1					p.L409fs	NM_001814.4	NP_001805.3	WXS	Illumina HiSeq	Phase_I	P53634	CATC_HUMAN			7	1339	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	409					A8K7V2|B5MDD5|Q2HIY8|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8	Frame_Shift_Del	DEL	ENST00000227266.5	37	c.1225delC	CCDS8282.1																																																																																				0.502	CTSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394019.2	0	NM_001814		11:88027341
BAHCC1	57597	broad.mit.edu	37	17	79419059	79419100	+	In_Frame_Del	DEL	GCTGGCGGAGCTGCAGCGGCGCTACAAGGAGAAGCAGCGGGA	GCTGGCGGAGCTGCAGCGGCGCTACAAGGAGAAGCAGCGGGA	-	rs376921426		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	GCTGGCGGAGCTGCAGCGGCGCTACAAGGAGAAGCAGCGGGA	GCTGGCGGAGCTGCAGCGGCGCTACAAGGAGAAGCAGCGGGA	-	-	GCTGGCGGAGCTGCAGCGGCGCTACAAGGAGAAGCAGCGGGA	GCTGGCGGAGCTGCAGCGGCGCTACAAGGAGAAGCAGCGGGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr17:79419059_79419100delGCTGGCGGAGCTGCAGCGGCGCTACAAGGAGAAGCAGCGGGA	ENST00000307745.7	+	17	4242_4283	c.4242_4283delGCTGGCGGAGCTGCAGCGGCGCTACAAGGAGAAGCAGCGGGA	c.(4240-4284)cggctggcggagctgcagcggcgctacaaggagaagcagcgggag>cgg	p.LAELQRRYKEKQRE1415del	MIR3186_ENST00000577404.1_RNA																							TGCGCGTGCGGCTGGCGGAGCTGCAGCGGCGCTACAAGGAGAAGCAGCGGGAGCTGGCCCGC	0.748																																						ENST00000307745.7		NA																	0					NA						c.(4240-4284)cggctggcggagctgcagcggcgctacaaggagaagcagcgggag>cgg																																						SO:0001651	inframe_deletion	0							g.chr17:79419059_79419100delGCTGGCGGAGCTGCAGCGGCGCTACAAGGAGAAGCAGCGGGA																												ENST00000307745.7:c.4242_4283delGCTGGCGGAGCTGCAGCGGCGCTACAAGGAGAAGCAGCGGGA	17.37:g.79419059_79419100delGCTGGCGGAGCTGCAGCGGCGCTACAAGGAGAAGCAGCGGGA	ENSP00000303486:p.Leu1415_Glu1428del	False	False		Somatic	1					p.LAELQRRYKEKQRE1415del			WXS	Illumina HiSeq	Phase_I					17	4242_4283	+			NA						In_Frame_Del	DEL	ENST00000307745.7	37	c.4242_4283delGCTGGCGGAGCTGCAGCGGCGCTACAAGGAGAAGCAGCGGGA																																																																																					0.748	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0			17:79419059
RFX1	5989	broad.mit.edu	37	19	14083667	14083711	+	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	rs201914058|rs559806837	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	-	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr19:14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	ENST00000254325.4	-	9	1392_1436	c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	c.(1156-1203)ggtggtggcggcggcggcgggggaggcggtggcgggggtggcagtggc>ggc	p.386_401GGGGGGGGGGGGGGSG>G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	386	Gly-rich.				immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			tccggtgctgccactgccacccccgccaccgcctcccccgccgccgccgccaccaccactgccac	0.71																																						ENST00000254325.4		NA																	0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1156-1203)ggtggtggcggcggcggcgggggaggcggtggcgggggtggcagtggc>ggc		regulatory factor X, 1 (influences HLA class II expression)																																				SO:0001651	inframe_deletion	5989				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 1"", ""enhancer factor C"", ""MHC class II regulatory factor RFX"""	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	19.37:g.14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	ENSP00000254325:p.Gly386_Ser400del	False	False		Somatic	1					p.386_401GGGGGGGGGGGGGGSG>G	NM_002918.4	NP_002909.4	WXS	Illumina HiSeq	Phase_I	P22670	RFX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)		9	1392_1436	-			386			Gly-rich.			In_Frame_Del	DEL	ENST00000254325.4	37	c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	CCDS12301.1																																																																																				0.710	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	0	NM_002918		19:14083667
NCOA3	8202	broad.mit.edu	37	20	46279864	46279866	+	In_Frame_Del	DEL	CAA	CAA	-	rs578139784|rs112826888|rs1132443	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	CAA	CAA	-	-	CAA	CAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr20:46279864_46279866delCAA	ENST00000371998.3	+	20	3981_3983	c.3790_3792delCAA	c.(3790-3792)caadel	p.Q1276del	NCOA3_ENST00000341724.6_In_Frame_Del_p.Q1202del|NCOA3_ENST00000372004.3_In_Frame_Del_p.Q1272del|NCOA3_ENST00000371997.3_In_Frame_Del_p.Q1267del			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1276	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						gcagcagcagcaacagcaacagc	0.567														844	0.16853	0.3699	0.098	5008	,	,		14322	0.0952		0.0795	False		,,,				2504	0.1135					ENST00000372004.3		NA																	0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3778-3780)caadel		nuclear receptor coactivator 3																																				SO:0001651	inframe_deletion	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279864_46279866delCAA	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3790_3792delCAA	20.37:g.46279864_46279866delCAA	ENSP00000361066:p.Gln1276del	True	False		Somatic	1				NCOA3_ENST00000341724.6_In_Frame_Del_p.Q1202del|NCOA3_ENST00000371998.3_In_Frame_Del_p.Q1276del|NCOA3_ENST00000371997.3_In_Frame_Del_p.Q1267del	p.Q1272del	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	WXS	Illumina HiSeq	Phase_I	Q9Y6Q9	NCOA3_HUMAN			20	3994_3996	+			1276			Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	In_Frame_Del	DEL	ENST00000371998.3	37	c.3778_3780delCAA	CCDS13407.1																																																																																				0.567	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	0	NM_006534		20:46279864
CYP2D6	1565	broad.mit.edu	37	22	42524244	42524244	+	Frame_Shift_Del	DEL	T	T	-	rs35742686	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr22:42524244delT	ENST00000360608.5	-	5	889	c.775delA	c.(775-777)aggfs	p.R259fs	NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000417327.1_RNA|CYP2D6_ENST00000389970.3_Frame_Shift_Del_p.R259fs|CYP2D6_ENST00000359033.4_Frame_Shift_Del_p.R208fs	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	259					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CAGGTCATCCTGTGCTCAGTT	0.632													T|T|-|deletion	28	0.00559105	0.0023	0.0058	5008	,	,		20791	0.0		0.0189	False		,,,				2504	0.002					ENST00000360608.5		NA																	0				NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	GRCh37	CD900279	CYP2D6	D	rs35742686	c.(775-777)aggfs		cytochrome P450, family 2, subfamily D, polypeptide 6			,	19,4233		0,19,2107	33.0	30.0	31.0		,	-0.8	0.0	22	dbSNP_126	32	139,8107		6,127,3990	no	frameshift,frameshift	CYP2D6	NM_001025161.1,NM_000106.4	,	6,146,6097	A1A1,A1R,RR		1.6857,0.4468,1.2642	,	,	42524244	158,12340	2197	4294	6491	SO:0001589	frameshift_variant	1565						electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	g.chr22:42524244delT	M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.775delA	22.37:g.42524244delT	ENSP00000353820:p.Arg259fs	False	False		Somatic	1				NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000416037.1_RNA|CYP2D6_ENST00000359033.4_Frame_Shift_Del_p.R208fs|CYP2D6_ENST00000389970.3_Frame_Shift_Del_p.R259fs	p.R259fs	NM_000106.5	NP_000097.3	WXS	Illumina HiSeq	Phase_I	Q6NWU0	Q6NWU0_HUMAN			5	889	-			259					Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Frame_Shift_Del	DEL	ENST00000360608.5	37	c.775delA	CCDS46721.1																																																																																				0.632	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1	0			22:42524244
C1QB	713	broad.mit.edu	37	1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	rs544508692|rs148813212		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	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
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	rs200621350|rs201864465		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534																																						ENST00000396137.4		NA																	0				endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16						c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca		junction mediating and regulatory protein, p53 cofactor																																				SO:0001651	inframe_deletion	133746				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	5.37:g.78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENSP00000379441:p.Pro811_Pro822del	False	False		Somatic	1				JMY_ENST00000412001.1_Intron	p.PPPPPPPPPPPP811del	NM_152405.4	NP_689618.4	WXS	Illumina HiSeq	Phase_I	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	9	2891_2926	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	811			Pro-rich.		A1L4P5|B5MDS2|B5MDT0	In_Frame_Del	DEL	ENST00000396137.4	37	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CCDS4047.3																																																																																				0.534	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	0	NM_152405		5:78610444
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212|rs368069269	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	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
AEBP1	165	broad.mit.edu	37	7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-	rs13928	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1133	Glu-rich.|Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.		K -> E (in dbSNP:rs13928). {ECO:0000269|Ref.3}.		cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552																																						ENST00000223357.3		NA																	0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(3394-3399)gagaaa>gaa		AE binding protein 1																																				SO:0001651	inframe_deletion	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44153778_44153780delAGA	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.3395_3397delAGA	7.37:g.44153778_44153780delAGA	ENSP00000223357:p.Lys1133del	True	False		Somatic	1				AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	p.K1133del	NM_001129.3	NP_001120.3	WXS	Illumina HiSeq	Phase_I	Q8IUX7	AEBP1_HUMAN			21	3700_3702	+			1133		K -> E (in dbSNP:rs13928).	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	In_Frame_Del	DEL	ENST00000223357.3	37	c.3395_3397delAGA	CCDS5476.1																																																																																				0.552	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	0	NM_001129		7:44153778
ALAS2	212	broad.mit.edu	37	X	55047614	55047614	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chrX:55047614C>T	ENST00000330807.5	-	5	646	c.509G>A	c.(508-510)cGc>cAc	p.R170H	ALAS2_ENST00000396198.3_Missense_Mutation_p.R157H|ALAS2_ENST00000498636.1_5'Flank|ALAS2_ENST00000335854.4_Missense_Mutation_p.R133H	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	170			R -> H (in XLSA; significantly increased thermosensitivity). {ECO:0000269|PubMed:21309041}.		cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	ATCAGCCCAGCGGTTCACAGT	0.483																																						ENST00000330807.5		NA																	0				central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17	GRCh37	CM983851|CM983852	ALAS2	M		c.(508-510)cGc>cAc		aminolevulinate, delta-, synthase 2	Glycine(DB00145)						170.0	121.0	137.0					X																	55047614		2203	4300	6503	SO:0001583	missense	212				cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chrX:55047614C>T		CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"""sideroblastic/hypochromic anemia"""	301300	"""aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"""	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.509G>A	X.37:g.55047614C>T	ENSP00000332369:p.Arg170His	False	False		Somatic	0				ALAS2_ENST00000396198.3_Missense_Mutation_p.R157H|ALAS2_ENST00000335854.4_Missense_Mutation_p.R133H	p.R170H	NM_000032.4	NP_000023.2	WXS	Illumina HiSeq	Phase_I	P22557	HEM0_HUMAN			5	646	-			170					A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Missense_Mutation	SNP	ENST00000330807.5	37	c.509G>A	CCDS14366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.145686|5.145686	0.94603|0.94603	.|.	.|.	ENSG00000158578|ENSG00000158578	ENST00000455688|ENST00000330807;ENST00000396198;ENST00000335854	.|D;D;D	.|0.95554	.|-3.74;-3.74;-3.74	4.92|4.92	4.92|4.92	0.64577|0.64577	.|Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97971|0.97971	0.9332|0.9332	M|M	0.88310|0.88310	2.945|2.945	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.87578	.|0.998;0.996;0.998	D|D	0.99123|0.99123	1.0850|1.0850	5|10	.|0.87932	.|D	.|0	-17.4214|-17.4214	16.2829|16.2829	0.82707|0.82707	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|133;157;170	.|A8K6C4;Q5JZF5;P22557	.|.;.;HEM0_HUMAN	T|H	122|170;157;133	.|ENSP00000332369:R170H;ENSP00000379501:R157H;ENSP00000337131:R133H	.|ENSP00000332369:R170H	A|R	-|-	1|2	0|0	ALAS2|ALAS2	55064339|55064339	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.818000|7.818000	0.86416|0.86416	2.185000|2.185000	0.69588|0.69588	0.529000|0.529000	0.55759|0.55759	GCT|CGC		0.483	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056843.3	0	NM_000032		X:55047614
DHX40	79665	broad.mit.edu	37	17	57650476	57650476	+	Splice_Site	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr17:57650476G>A	ENST00000251241.4	+	4	573		c.e4-1		DHX40_ENST00000451169.2_Splice_Site|DHX40_ENST00000425628.3_Splice_Site	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40								ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTGAACATTAGGAGACAGCAA	0.368																																						ENST00000451169.2		NA																	0				endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20						c.e4-1		DEAH (Asp-Glu-Ala-His) box polypeptide 40							81.0	86.0	84.0					17																	57650476		2203	4296	6499	SO:0001630	splice_region_variant	79665						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr17:57650476G>A	AF260270	CCDS11617.1, CCDS54150.1	17q22	2014-01-28	2003-06-13	2003-06-20		ENSG00000108406		"""DEAH-boxes"""	18018	protein-coding gene	gene with protein product		607570	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase)"""	DDX40			Standard	NM_024612		Approved	ARG147, PAD, FLJ22060	uc002ixn.2	Q8IX18		ENST00000251241.4:c.427-1G>A	17.37:g.57650476G>A		False	False		Somatic	0				DHX40_ENST00000425628.3_Splice_Site|DHX40_ENST00000251241.4_Splice_Site				WXS	Illumina HiSeq	Phase_I	Q8IX18	DHX40_HUMAN			4	488	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		NA					B3KTJ5|C9JR60|Q5JPH4|Q8TC86|Q8WY53|Q9BXM1|Q9H6M9	Splice_Site	SNP	ENST00000251241.4	37		CCDS11617.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491702	0.84962	.	.	ENSG00000108406	ENST00000251241;ENST00000538926;ENST00000425628;ENST00000451169	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DHX40	55005258	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.301000	0.96167	2.882000	0.98803	0.655000	0.94253	.		0.368	DHX40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446095.1	0	NM_024612	Intron	17:57650476
CPE	1363	broad.mit.edu	37	4	166418730	166418730	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr4:166418730T>C	ENST00000402744.4	+	9	1679	c.1399T>C	c.(1399-1401)Tgg>Cgg	p.W467R		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	467					cardiac left ventricle morphogenesis (GO:0003214)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|insulin processing (GO:0030070)|metabolic process (GO:0008152)|neuropeptide signaling pathway (GO:0007218)|protein localization to membrane (GO:0072657)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)	carboxypeptidase activity (GO:0004180)|cell adhesion molecule binding (GO:0050839)|metallocarboxypeptidase activity (GO:0004181)|neurexin family protein binding (GO:0042043)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GATGGAATGGTGGAAAATGAT	0.289																																						ENST00000402744.4		NA																	0				endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(1399-1401)Tgg>Cgg		carboxypeptidase E	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						85.0	87.0	86.0					4																	166418730		2201	4296	6497	SO:0001583	missense	1363				cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding	g.chr4:166418730T>C	X51405	CCDS3810.1	4q32.3	2012-02-10			ENSG00000109472	ENSG00000109472	3.4.17.10		2303	protein-coding gene	gene with protein product	"""carboxypeptidase H"", ""enkephalin convertase"", ""insulin granule-associated carboxypeptidase"", ""cobalt-stimulated chromaffin granule carboxypeptidase"""	114855				2334405	Standard	NM_001873		Approved		uc003irg.4	P16870	OTTHUMG00000150252	ENST00000402744.4:c.1399T>C	4.37:g.166418730T>C	ENSP00000386104:p.Trp467Arg	False	False		Somatic	0					p.W467R	NM_001873.2	NP_001864.1	WXS	Illumina HiSeq	Phase_I	P16870	CBPE_HUMAN		GBM - Glioblastoma multiforme(119;0.137)	9	1679	+	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)	467					A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Missense_Mutation	SNP	ENST00000402744.4	37	c.1399T>C	CCDS3810.1	.	.	.	.	.	.	.	.	.	.	T	17.01	3.280597	0.59758	.	.	ENSG00000109472	ENST00000402744	T	0.12774	2.65	6.08	6.08	0.98989	Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.000000	0.85682	D	0.000000	T	0.33876	0.0878	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.01829	-1.1265	10	0.87932	D	0	-11.282	16.643	0.85134	0.0:0.0:0.0:1.0	.	467	P16870	CBPE_HUMAN	R	467	ENSP00000386104:W467R	ENSP00000386104:W467R	W	+	1	0	CPE	166638180	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.085000	0.76875	2.330000	0.79161	0.533000	0.62120	TGG		0.289	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2	0	NM_001873		4:166418730
TMEM38A	79041	broad.mit.edu	37	19	16797152	16797152	+	Missense_Mutation	SNP	G	G	A	rs78725797		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr19:16797152G>A	ENST00000187762.2	+	5	699	c.608G>A	c.(607-609)cGc>cAc	p.R203H		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	203						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						CAGCAGACCCGCTGGCTCCCA	0.562																																						ENST00000187762.2		NA																	0				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						c.(607-609)cGc>cAc		transmembrane protein 38A		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	131.0	95.0	107.0		608	3.8	1.0	19	dbSNP_131	107	0,8600		0,0,4300	no	missense	TMEM38A	NM_024074.1	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	203/300	16797152	1,13005	2203	4300	6503	SO:0001583	missense	79041					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	g.chr19:16797152G>A	AK025981	CCDS12349.1	19p13.11	2013-05-23				ENSG00000072954			28462	protein-coding gene	gene with protein product		611235				17611541	Standard	NM_024074		Approved	MGC3169, TRIC-A	uc002nes.3	Q9H6F2		ENST00000187762.2:c.608G>A	19.37:g.16797152G>A	ENSP00000187762:p.Arg203His	True	False		Somatic	0					p.R203H	NM_024074.1	NP_076979.1	WXS	Illumina HiSeq	Phase_I	Q9H6F2	TM38A_HUMAN			5	699	+			203					A8K9P9	Missense_Mutation	SNP	ENST00000187762.2	37	c.608G>A	CCDS12349.1	.	.	.	.	.	.	.	.	.	.	g	9.106	1.005306	0.19199	2.27E-4	0.0	ENSG00000072954	ENST00000187762	.	.	.	4.87	3.84	0.44239	.	0.110837	0.64402	D	0.000011	T	0.15349	0.0370	N	0.00869	-1.13	0.36185	D	0.849713	B	0.11235	0.004	B	0.08055	0.003	T	0.09907	-1.0653	9	0.33940	T	0.23	-42.5728	5.1808	0.15160	0.2785:0.0:0.7215:0.0	.	203	Q9H6F2	TM38A_HUMAN	H	203	.	ENSP00000187762:R203H	R	+	2	0	TMEM38A	16658152	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.170000	0.58229	2.257000	0.74773	0.655000	0.94253	CGC		0.562	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462841.1	0	NM_024074		19:16797152
BEST3	144453	broad.mit.edu	37	12	70048804	70048804	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr12:70048804G>C	ENST00000330891.5	-	10	2116	c.1890C>G	c.(1888-1890)atC>atG	p.I630M	BEST3_ENST00000553096.1_Missense_Mutation_p.I524M|BEST3_ENST00000488961.1_Missense_Mutation_p.I417M|BEST3_ENST00000331471.4_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	630					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CCACAATGTTGATCCCACTGA	0.468																																						ENST00000330891.5		NA																	0				cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12						c.(1888-1890)atC>atG		bestrophin 3							88.0	86.0	87.0					12																	70048804		1911	4138	6049	SO:0001583	missense	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70048804G>C	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1890C>G	12.37:g.70048804G>C	ENSP00000332413:p.Ile630Met	False	False		Somatic	0				BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.I524M|BEST3_ENST00000488961.1_Missense_Mutation_p.I417M	p.I630M	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	WXS	Illumina HiSeq	Phase_I	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		10	2116	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		630					B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	ENST00000330891.5	37	c.1890C>G	CCDS8992.2	.	.	.	.	.	.	.	.	.	.	G	10.87	1.473125	0.26423	.	.	ENSG00000127325	ENST00000488961;ENST00000330891;ENST00000553096	D;D;D	0.98090	-4.39;-4.71;-4.68	5.53	2.67	0.31697	.	0.874202	0.10059	N	0.721139	D	0.94006	0.8080	L	0.32530	0.975	0.09310	N	1	B;B	0.18461	0.022;0.028	B;B	0.19148	0.006;0.024	D	0.88148	0.2849	10	0.44086	T	0.13	-1.6889	5.3228	0.15891	0.2378:0.2019:0.5603:0.0	.	630;417	Q8N1M1;B5MDI8	BEST3_HUMAN;.	M	417;630;524	ENSP00000433213:I417M;ENSP00000332413:I630M;ENSP00000449548:I524M	ENSP00000332413:I630M	I	-	3	3	BEST3	68335071	0.078000	0.21339	0.076000	0.20297	0.118000	0.20060	0.955000	0.29188	1.323000	0.45263	0.563000	0.77884	ATC		0.468	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	0	NM_152439		12:70048804
LRFN5	145581	broad.mit.edu	37	14	42360832	42360832	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr14:42360832G>A	ENST00000298119.4	+	4	2954	c.1765G>A	c.(1765-1767)Gtg>Atg	p.V589M	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	589						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GCCCCAGTCCGTGTCCAAACA	0.463										HNSCC(30;0.082)																												ENST00000298119.4		NA																	0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(1765-1767)Gtg>Atg		leucine rich repeat and fibronectin type III domain containing 5							117.0	99.0	105.0					14																	42360832		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42360832G>A	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1765G>A	14.37:g.42360832G>A	ENSP00000298119:p.Val589Met	False	False	HNSCC(30;0.082)	Somatic	0				LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	p.V589M	NM_152447.3	NP_689660.2	WXS	Illumina HiSeq	Phase_I	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	4	2954	+			589					B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.1765G>A	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	G	3.589	-0.084060	0.07097	.	.	ENSG00000165379	ENST00000298119	T	0.46819	0.86	5.95	-8.33	0.00992	.	0.719510	0.12218	N	0.488691	T	0.15435	0.0372	N	0.08118	0	0.33496	D	0.589311	P	0.37370	0.592	B	0.22880	0.042	T	0.20672	-1.0268	10	0.42905	T	0.14	.	7.3406	0.26635	0.2434:0.0993:0.5598:0.0975	.	589	Q96NI6	LRFN5_HUMAN	M	589	ENSP00000298119:V589M	ENSP00000298119:V589M	V	+	1	0	LRFN5	41430582	0.000000	0.05858	0.103000	0.21229	0.809000	0.45718	-0.726000	0.04936	-1.450000	0.01936	-0.157000	0.13467	GTG		0.463	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	0	NM_152447		14:42360832
DPP6	1804	broad.mit.edu	37	7	154596629	154596629	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:154596629A>G	ENST00000377770.3	+	15	1643	c.1502A>G	c.(1501-1503)tAc>tGc	p.Y501C	DPP6_ENST00000427557.1_Missense_Mutation_p.Y394C|DPP6_ENST00000332007.3_Missense_Mutation_p.Y439C|DPP6_ENST00000404039.1_Missense_Mutation_p.Y437C			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	501					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CTTTGCAGCTACTTCCTGAGC	0.577																																					NSCLC(125;1384 1783 2490 7422 34254)	ENST00000404039.1		NA																	0				NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71						c.(1309-1311)tAc>tGc		dipeptidyl-peptidase 6							84.0	92.0	89.0					7																	154596629		2073	4211	6284	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154596629A>G	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1502A>G	7.37:g.154596629A>G	ENSP00000367001:p.Tyr501Cys	False	False		Somatic	0				DPP6_ENST00000332007.3_Missense_Mutation_p.Y439C|DPP6_ENST00000377770.3_Missense_Mutation_p.Y501C|DPP6_ENST00000427557.1_Missense_Mutation_p.Y394C	p.Y437C	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	WXS	Illumina HiSeq	Phase_I	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		15	1897	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	501						Missense_Mutation	SNP	ENST00000377770.3	37	c.1310A>G		.	.	.	.	.	.	.	.	.	.	A	21.1	4.092541	0.76756	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.04	5.04	0.67666	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.056551	0.64402	D	0.000001	T	0.73560	0.3602	H	0.95780	3.72	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.81904	-0.0719	10	0.87932	D	0	-22.1949	13.0759	0.59087	1.0:0.0:0.0:0.0	.	394;439;501;437	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	C	437;501;439;394	ENSP00000385578:Y437C;ENSP00000367001:Y501C;ENSP00000328226:Y439C;ENSP00000397303:Y394C	ENSP00000328226:Y439C	Y	+	2	0	DPP6	154227562	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.947000	0.75959	2.018000	0.59344	0.529000	0.55759	TAC		0.577	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	0	NM_130797		7:154596629
CPSF2	53981	broad.mit.edu	37	14	92628035	92628035	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr14:92628035C>T	ENST00000298875.4	+	16	2581	c.2296C>T	c.(2296-2298)Caa>Taa	p.Q766*		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	766					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		CTGCCTTTGTCAAGATTTTTA	0.318																																					Ovarian(78;28 1788 18702 44111)	ENST00000298875.4		NA																	0				breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24						c.(2296-2298)Caa>Taa		cleavage and polyadenylation specific factor 2, 100kDa							80.0	77.0	78.0					14																	92628035		2203	4298	6501	SO:0001587	stop_gained	53981				histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding	g.chr14:92628035C>T	AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"""cleavage and polyadenylation specific factor 2, 100kD subunit"""			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.2296C>T	14.37:g.92628035C>T	ENSP00000298875:p.Gln766*	False	False		Somatic	0					p.Q766*	NM_017437.2	NP_059133.1	WXS	Illumina HiSeq	Phase_I	Q9P2I0	CPSF2_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	16	2581	+		all_cancers(154;0.0766)	766					B3KME1|Q6NSJ1|Q9H3W7	Nonsense_Mutation	SNP	ENST00000298875.4	37	c.2296C>T	CCDS9902.1	.	.	.	.	.	.	.	.	.	.	C	40	8.417780	0.98803	.	.	ENSG00000165934	ENST00000298875	.	.	.	5.7	5.7	0.88788	.	0.136439	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	14.6844	0.69040	0.0:0.7349:0.265:0.0	.	.	.	.	X	766	.	ENSP00000298875:Q766X	Q	+	1	0	CPSF2	91697788	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.426000	0.52778	2.683000	0.91414	0.655000	0.94253	CAA		0.318	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1	0			14:92628035
ING1	3621	broad.mit.edu	37	13	111368263	111368263	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr13:111368263A>G	ENST00000375774.3	+	1	935	c.473A>G	c.(472-474)gAc>gGc	p.D158G	ING1_ENST00000375775.3_Intron|ING1_ENST00000338450.7_Intron|ING1_ENST00000464141.1_Intron|CARS2_ENST00000535398.1_5'Flank|ING1_ENST00000333219.7_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	158					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TGCAGTTCGGACCGCCTCCCG	0.711																																						ENST00000375774.3		NA																	0				endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12						c.(472-474)gAc>gGc		inhibitor of growth family, member 1							13.0	21.0	18.0					13																	111368263		1765	3634	5399	SO:0001583	missense	3621				cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding	g.chr13:111368263A>G		CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"""Zinc fingers, PHD-type"""	6062	protein-coding gene	gene with protein product	"""inhibitor of growth 1"", ""tumor suppressor ING1"", ""growth inhibitor ING1"", ""growth inhibitory protein ING1"""	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.473A>G	13.37:g.111368263A>G	ENSP00000364929:p.Asp158Gly	False	False		Somatic	0				ING1_ENST00000464141.1_Intron|ING1_ENST00000338450.7_Intron|ING1_ENST00000333219.7_Intron|ING1_ENST00000375775.3_Intron	p.D158G	NM_005537.4	NP_005528.3	WXS	Illumina HiSeq	Phase_I	Q9UK53	ING1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		1	935	+	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		158					O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Missense_Mutation	SNP	ENST00000375774.3	37	c.473A>G	CCDS9517.1	.	.	.	.	.	.	.	.	.	.	A	0.643	-0.812678	0.02798	.	.	ENSG00000153487	ENST00000375774	T	0.55930	0.49	3.31	-2.11	0.07187	.	.	.	.	.	T	0.24967	0.0606	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13019	-1.0525	9	0.31617	T	0.26	.	3.314	0.07026	0.4814:0.0:0.3271:0.1915	.	158	Q9UK53	ING1_HUMAN	G	158	ENSP00000364929:D158G	ENSP00000364929:D158G	D	+	2	0	ING1	110166264	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-3.845000	0.00352	-0.273000	0.09246	-0.252000	0.11476	GAC		0.711	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	0	NM_005537		13:111368263
GABRB1	2560	broad.mit.edu	37	4	47322169	47322169	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr4:47322169A>T	ENST00000295454.3	+	5	779	c.487A>T	c.(487-489)Atg>Ttg	p.M163L	GABRB1_ENST00000538619.1_Missense_Mutation_p.M93L	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	163					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGCATGTATGATGGATCTTCG	0.423																																						ENST00000295454.3		NA																	0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(487-489)Atg>Ttg		gamma-aminobutyric acid (GABA) A receptor, beta 1	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						121.0	107.0	112.0					4																	47322169		2203	4300	6503	SO:0001583	missense	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47322169A>T		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.487A>T	4.37:g.47322169A>T	ENSP00000295454:p.Met163Leu	False	False		Somatic	0				GABRB1_ENST00000538619.1_Missense_Mutation_p.M93L	p.M163L	NM_000812.3	NP_000803.2	WXS	Illumina HiSeq	Phase_I	P18505	GBRB1_HUMAN			5	779	+			163					B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	c.487A>T	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	A	31	5.067721	0.93950	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	T;T	0.78707	-1.2;-1.2	5.19	5.19	0.71726	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.196139	0.44285	D	0.000466	T	0.81394	0.4813	L	0.43554	1.36	0.58432	D	0.999998	D;P	0.57257	0.979;0.699	P;P	0.60345	0.873;0.833	T	0.82839	-0.0259	10	0.62326	D	0.03	-26.9689	13.0442	0.58916	1.0:0.0:0.0:0.0	.	93;163	F5GXV5;P18505	.;GBRB1_HUMAN	L	163;93	ENSP00000295454:M163L;ENSP00000440330:M93L	ENSP00000295454:M163L	M	+	1	0	GABRB1	47016926	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.665000	0.91144	2.178000	0.69098	0.477000	0.44152	ATG		0.423	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1	0			4:47322169
POM121L12	285877	broad.mit.edu	37	7	53104077	53104077	+	Missense_Mutation	SNP	C	C	T	rs373781225		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:53104077C>T	ENST00000408890.4	+	1	729	c.713C>T	c.(712-714)cCg>cTg	p.P238L		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	238										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCTCTGAAGCCGAGCCTCGGC	0.652																																						ENST00000408890.4		NA																	0				endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(712-714)cCg>cTg		POM121 transmembrane nucleoporin-like 12		C	LEU/PRO	1,3927		0,1,1963	44.0	52.0	49.0		713	-3.7	0.0	7		49	0,8270		0,0,4135	no	missense	POM121L12	NM_182595.3	98	0,1,6098	TT,TC,CC		0.0,0.0255,0.0082	possibly-damaging	238/297	53104077	1,12197	1964	4135	6099	SO:0001583	missense	285877							g.chr7:53104077C>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.713C>T	7.37:g.53104077C>T	ENSP00000386133:p.Pro238Leu	False	False		Somatic	0					p.P238L	NM_182595.3	NP_872401.3	WXS	Illumina HiSeq	Phase_I	Q8N7R1	P1L12_HUMAN			1	729	+			238					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.713C>T	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	C	3.553	-0.091246	0.07053	2.55E-4	0.0	ENSG00000221900	ENST00000408890	T	0.10860	2.83	1.84	-3.67	0.04476	.	.	.	.	.	T	0.05502	0.0145	N	0.08118	0	0.09310	N	1	P	0.49635	0.926	P	0.45037	0.467	T	0.19353	-1.0308	9	0.51188	T	0.08	.	5.1209	0.14860	0.4429:0.2886:0.2685:0.0	.	238	Q8N7R1	P1L12_HUMAN	L	238	ENSP00000386133:P238L	ENSP00000386133:P238L	P	+	2	0	POM121L12	53071571	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.714000	0.01881	-2.499000	0.00511	-1.083000	0.02208	CCG		0.652	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	0	NM_182595		7:53104077
FKBP6	8468	broad.mit.edu	37	7	72744195	72744195	+	Missense_Mutation	SNP	G	G	A	rs3950376		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:72744195G>A	ENST00000252037.4	+	4	377	c.308G>A	c.(307-309)cGg>cAg	p.R103Q	FKBP6_ENST00000431982.2_Missense_Mutation_p.R98Q|TRIM50_ENST00000493498.1_5'Flank|FKBP6_ENST00000413573.2_Missense_Mutation_p.R73Q|TRIM50_ENST00000333149.2_5'Flank	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	103	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.			R -> Q (in Ref. 2; AAP97324). {ECO:0000305}.	cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|piRNA metabolic process (GO:0034587)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|synaptonemal complex (GO:0000795)	FK506 binding (GO:0005528)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.R103Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CTGAGCATGCGGAGAGGAGAG	0.537																																						ENST00000252037.4		NA																	1	Substitution - Missense(1)	p.R103Q(1)	lung(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16						c.(307-309)cGg>cAg		FK506 binding protein 6, 36kDa							131.0	112.0	118.0					7																	72744195		2203	4300	6503	SO:0001583	missense	8468				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:72744195G>A	AF038847	CCDS43595.1, CCDS47604.1, CCDS64670.1	7q11.23	2009-01-05	2002-08-29		ENSG00000077800	ENSG00000077800			3722	protein-coding gene	gene with protein product	"""FK506 binding protein 6 (36kD)"", ""peptidylprolyl cis-trans isomerase"", ""rotamase"", ""immunophilin FKBP36"""	604839	"""FK506-binding protein 6 (36kD)"""			9782077, 19001379	Standard	NM_003602		Approved	PPIase, FKBP36	uc003tya.2	O75344	OTTHUMG00000150520	ENST00000252037.4:c.308G>A	7.37:g.72744195G>A	ENSP00000252037:p.Arg103Gln	True	False		Somatic	0				FKBP6_ENST00000431982.2_Missense_Mutation_p.R98Q|FKBP6_ENST00000413573.2_Missense_Mutation_p.R73Q	p.R103Q	NM_003602.3	NP_003593.3	WXS	Illumina HiSeq	Phase_I	O75344	FKBP6_HUMAN			4	377	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	103			PPIase FKBP-type.		B4DXT7|G3V0I2|Q7Z4T4|Q9UDS0	Missense_Mutation	SNP	ENST00000252037.4	37	c.308G>A	CCDS43595.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538247	0.45176	.	.	ENSG00000077800	ENST00000431982;ENST00000442793;ENST00000413573;ENST00000252037	D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0	4.52	4.52	0.55395	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.229081	0.39985	N	0.001216	T	0.64702	0.2622	N	0.12502	0.225	0.36640	D	0.876817	B;B	0.33073	0.396;0.023	B;B	0.16289	0.009;0.015	T	0.66512	-0.5905	10	0.19147	T	0.46	-20.1574	7.1478	0.25593	0.1919:0.0:0.8081:0.0	rs3950376	98;103	O75344-2;O75344	.;FKBP6_HUMAN	Q	98;98;73;103	ENSP00000416277:R98Q;ENSP00000402360:R98Q;ENSP00000394952:R73Q;ENSP00000252037:R103Q	ENSP00000252037:R103Q	R	+	2	0	FKBP6	72382131	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.794000	0.47853	2.101000	0.63845	0.485000	0.47835	CGG		0.537	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318723.1	0	NM_003602		7:72744195
FKBP6	8468	broad.mit.edu	37	7	72744255	72744255	+	Missense_Mutation	SNP	G	G	C	rs1064197		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:72744255G>C	ENST00000252037.4	+	4	437	c.368G>C	c.(367-369)tGc>tCc	p.C123S	FKBP6_ENST00000431982.2_Missense_Mutation_p.C118S|TRIM50_ENST00000493498.1_5'Flank|FKBP6_ENST00000413573.2_Missense_Mutation_p.C93S|TRIM50_ENST00000333149.2_5'Flank	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	123	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.			C -> S (in Ref. 2; AAP97324). {ECO:0000305}.	cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|piRNA metabolic process (GO:0034587)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|synaptonemal complex (GO:0000795)	FK506 binding (GO:0005528)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.C123S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				ACGCTGGGCTGCCCTCCCTTG	0.547																																						ENST00000252037.4		NA																	1	Substitution - Missense(1)	p.C123S(1)	lung(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16						c.(367-369)tGc>tCc		FK506 binding protein 6, 36kDa							134.0	119.0	124.0					7																	72744255		2203	4300	6503	SO:0001583	missense	8468				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:72744255G>C	AF038847	CCDS43595.1, CCDS47604.1, CCDS64670.1	7q11.23	2009-01-05	2002-08-29		ENSG00000077800	ENSG00000077800			3722	protein-coding gene	gene with protein product	"""FK506 binding protein 6 (36kD)"", ""peptidylprolyl cis-trans isomerase"", ""rotamase"", ""immunophilin FKBP36"""	604839	"""FK506-binding protein 6 (36kD)"""			9782077, 19001379	Standard	NM_003602		Approved	PPIase, FKBP36	uc003tya.2	O75344	OTTHUMG00000150520	ENST00000252037.4:c.368G>C	7.37:g.72744255G>C	ENSP00000252037:p.Cys123Ser	True	False		Somatic	0				FKBP6_ENST00000431982.2_Missense_Mutation_p.C118S|FKBP6_ENST00000413573.2_Missense_Mutation_p.C93S	p.C123S	NM_003602.3	NP_003593.3	WXS	Illumina HiSeq	Phase_I	O75344	FKBP6_HUMAN			4	437	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	123			PPIase FKBP-type.		B4DXT7|G3V0I2|Q7Z4T4|Q9UDS0	Missense_Mutation	SNP	ENST00000252037.4	37	c.368G>C	CCDS43595.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.152779	0.57259	.	.	ENSG00000077800	ENST00000431982;ENST00000442793;ENST00000413573;ENST00000252037	T;T;D;T	0.85088	1.06;1.06;-1.94;1.06	4.52	4.52	0.55395	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.000000	0.85682	D	0.000000	T	0.77605	0.4155	N	0.12663	0.25	0.80722	D	1	P;P	0.35363	0.497;0.49	B;B	0.44315	0.116;0.446	T	0.73477	-0.3970	10	0.11182	T	0.66	-17.6513	15.8937	0.79322	0.0:0.0:1.0:0.0	rs1064197;rs2883080	118;123	O75344-2;O75344	.;FKBP6_HUMAN	S	118;118;93;123	ENSP00000416277:C118S;ENSP00000402360:C118S;ENSP00000394952:C93S;ENSP00000252037:C123S	ENSP00000252037:C123S	C	+	2	0	FKBP6	72382191	1.000000	0.71417	0.993000	0.49108	0.631000	0.37964	9.308000	0.96247	2.101000	0.63845	0.485000	0.47835	TGC		0.547	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318723.1	0	NM_003602		7:72744255
PAGE1	8712	broad.mit.edu	37	X	49459355	49459355	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chrX:49459355A>C	ENST00000376150.3	-	2	151	c.19T>G	c.(19-21)Tta>Gta	p.L7V		NM_003785.3	NP_003776.2	O75459	PAGE1_HUMAN	P antigen family, member 1 (prostate associated)	7					cellular defense response (GO:0006968)					endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					CGATAGATTAATCTTCTTAGA	0.373																																						ENST00000376150.3		NA																	0				endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7						c.(19-21)Tta>Gta		P antigen family, member 1 (prostate associated)							73.0	61.0	65.0					X																	49459355		2203	4300	6503	SO:0001583	missense	8712				cellular defense response			g.chrX:49459355A>C	AF058989	CCDS14327.1	Xp11.23	2009-06-17	2005-01-26	2005-01-27	ENSG00000068985	ENSG00000068985			4107	protein-coding gene	gene with protein product		300288	"""G antigen, family B, 1 (prostate associated)"""	GAGEB1		9651357, 9724777	Standard	NM_003785		Approved	PAGE-1, GAGE-9, CT16.3	uc004dom.3	O75459	OTTHUMG00000033224	ENST00000376150.3:c.19T>G	X.37:g.49459355A>C	ENSP00000365320:p.Leu7Val	False	False		Somatic	0					p.L7V	NM_003785.3	NP_003776.2	WXS	Illumina HiSeq	Phase_I	O75459	GAGB1_HUMAN			2	151	-	Ovarian(276;0.236)		7					Q6FGM3|Q9BSS7	Missense_Mutation	SNP	ENST00000376150.3	37	c.19T>G	CCDS14327.1	.	.	.	.	.	.	.	.	.	.	A	6.763	0.509661	0.12883	.	.	ENSG00000068985	ENST00000376150	T	0.10005	2.92	1.57	1.57	0.23409	.	.	.	.	.	T	0.11067	0.0270	L	0.50333	1.59	0.09310	N	1	D	0.56521	0.976	P	0.46389	0.515	T	0.21211	-1.0252	9	0.24483	T	0.36	.	4.6903	0.12778	1.0:0.0:0.0:0.0	.	7	O75459	GAGB1_HUMAN	V	7	ENSP00000365320:L7V	ENSP00000365320:L7V	L	-	1	2	PAGE1	49346066	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.800000	0.27042	0.857000	0.35407	0.314000	0.21332	TTA		0.373	PAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081210.1	0			X:49459355
EFEMP2	30008	broad.mit.edu	37	11	65638816	65638816	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:65638816G>T	ENST00000307998.6	-	4	409	c.179C>A	c.(178-180)aCc>aAc	p.T60N	EFEMP2_ENST00000528176.1_Missense_Mutation_p.T60N	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	60	EGF-like 1; atypical. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		CTCAGGGATGGTCAGACACTC	0.642																																						ENST00000307998.6		NA																	0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(178-180)aCc>aAc		EGF containing fibulin-like extracellular matrix protein 2							88.0	96.0	94.0					11																	65638816		2201	4296	6497	SO:0001583	missense	30008				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity	g.chr11:65638816G>T	AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"""Fibulins"""	3219	protein-coding gene	gene with protein product	"""fibulin 4"""	604633	"""EGF-containing fibulin-like extracellular matrix protein 2"""			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.179C>A	11.37:g.65638816G>T	ENSP00000309953:p.Thr60Asn	False	False		Somatic	0				EFEMP2_ENST00000528176.1_Missense_Mutation_p.T60N	p.T60N	NM_016938.4	NP_058634.4	WXS	Illumina HiSeq	Phase_I	O95967	FBLN4_HUMAN		READ - Rectum adenocarcinoma(159;0.169)	4	409	-			60			EGF-like 1; atypical.		A8K7R4|B3KM31|B3KQT1|O75967	Missense_Mutation	SNP	ENST00000307998.6	37	c.179C>A	CCDS8116.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812097	0.70797	.	.	ENSG00000172638	ENST00000528176;ENST00000307998;ENST00000526624;ENST00000527378	D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99	4.93	4.93	0.64822	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);	0.000000	0.40640	N	0.001054	D	0.94666	0.8280	M	0.69358	2.11	0.52501	D	0.999956	D;D	0.69078	0.997;0.997	D;P	0.80764	0.994;0.898	D	0.92380	0.5912	10	0.16896	T	0.51	.	15.6604	0.77182	0.0:0.0:1.0:0.0	.	60;60	E9PRU1;O95967	.;FBLN4_HUMAN	N	60	ENSP00000434151:T60N;ENSP00000309953:T60N;ENSP00000435419:T60N;ENSP00000435963:T60N	ENSP00000309953:T60N	T	-	2	0	EFEMP2	65395392	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.893000	0.63199	2.553000	0.86117	0.655000	0.94253	ACC		0.642	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391047.4	0	NM_016938		11:65638816
BVES	11149	broad.mit.edu	37	6	105563588	105563588	+	Missense_Mutation	SNP	G	G	A	rs371189369		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr6:105563588G>A	ENST00000314641.5	-	7	1147	c.931C>T	c.(931-933)Cgg>Tgg	p.R311W	BVES_ENST00000336775.5_Missense_Mutation_p.R311W|BVES_ENST00000446408.2_Missense_Mutation_p.R311W	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	311					epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)	p.R311W(1)		NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				GAGGTACCCCGAAGAAACTGG	0.478																																						ENST00000314641.5		NA																	1	Substitution - Missense(1)	p.R311W(1)	skin(1)	NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(931-933)Cgg>Tgg		blood vessel epicardial substance		G	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	180.0	155.0	163.0		931,931,931	5.9	1.0	6		163	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	BVES	NM_001199563.1,NM_007073.4,NM_147147.3	101,101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	311/361,311/361,311/361	105563588	1,13005	2203	4300	6503	SO:0001583	missense	11149				epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	g.chr6:105563588G>A	AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"""popeye domain containing 1"""	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.931C>T	6.37:g.105563588G>A	ENSP00000313172:p.Arg311Trp	True	False		Somatic	0				BVES_ENST00000336775.5_Missense_Mutation_p.R311W|BVES_ENST00000446408.2_Missense_Mutation_p.R311W	p.R311W	NM_001199563.1	NP_001186492.1	WXS	Illumina HiSeq	Phase_I	Q8NE79	POPD1_HUMAN			7	1147	-		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)	311					A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Missense_Mutation	SNP	ENST00000314641.5	37	c.931C>T	CCDS5051.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.884860	0.72410	0.0	1.16E-4	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	T;T;T	0.29397	1.57;1.57;1.57	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.43853	0.1266	L	0.55990	1.75	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.29822	-0.9999	10	0.72032	D	0.01	-21.4302	15.137	0.72576	0.0:0.0:0.8587:0.1413	.	311	Q8NE79	POPD1_HUMAN	W	311	ENSP00000313172:R311W;ENSP00000337259:R311W;ENSP00000397310:R311W	ENSP00000313172:R311W	R	-	1	2	BVES	105670281	1.000000	0.71417	0.997000	0.53966	0.708000	0.40852	3.314000	0.51943	2.822000	0.97130	0.563000	0.77884	CGG		0.478	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406075.1	0	NM_147147		6:105563588
QRICH2	84074	broad.mit.edu	37	17	74283929	74283929	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr17:74283929C>G	ENST00000262765.5	-	6	3529	c.3350G>C	c.(3349-3351)gGg>gCg	p.G1117A		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1117										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CAGTTCCTTCCCTGCTTCTTG	0.562																																						ENST00000262765.5		NA																	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						c.(3349-3351)gGg>gCg		glutamine rich 2							237.0	160.0	186.0					17																	74283929		2203	4300	6503	SO:0001583	missense	84074						protein binding	g.chr17:74283929C>G	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.3350G>C	17.37:g.74283929C>G	ENSP00000262765:p.Gly1117Ala	True	False		Somatic	0					p.G1117A	NM_032134.1	NP_115510.1	WXS	Illumina HiSeq	Phase_I	Q9H0J4	QRIC2_HUMAN			6	3529	-			1117					A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.3350G>C	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.423478	0.25639	.	.	ENSG00000129646	ENST00000262765;ENST00000447564;ENST00000301613	T;T	0.61158	2.14;0.13	4.8	2.41	0.29592	.	.	.	.	.	T	0.52901	0.1763	N	0.20986	0.625	0.09310	N	1	D;D	0.55605	0.972;0.972	P;P	0.58210	0.831;0.835	T	0.34477	-0.9827	9	0.33141	T	0.24	-11.7068	6.6966	0.23203	0.0:0.6871:0.0:0.3129	.	1117;1117	B5MD94;Q9H0J4	.;QRIC2_HUMAN	A	1117;125;1117	ENSP00000262765:G1117A;ENSP00000394461:G125A	ENSP00000262765:G1117A	G	-	2	0	QRICH2	71795524	0.004000	0.15560	0.622000	0.29159	0.024000	0.10985	0.401000	0.20948	1.001000	0.39076	0.462000	0.41574	GGG		0.562	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	0	NM_032134		17:74283929
MRGPRF	116535	broad.mit.edu	37	11	68773653	68773653	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:68773653G>A	ENST00000309099.6	-	3	507	c.125C>T	c.(124-126)cCg>cTg	p.P42L	MRGPRF_ENST00000441623.1_Missense_Mutation_p.P42L|RP11-554A11.5_ENST00000562506.1_RNA	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	42						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGCCGGAGGCGGCAGCATCGC	0.632																																						ENST00000309099.6		NA																	0				endometrium(3)|lung(4)	7						c.(124-126)cCg>cTg		MAS-related GPR, member F							40.0	48.0	45.0					11																	68773653		2200	4294	6494	SO:0001583	missense	116535					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:68773653G>A	AK075492	CCDS8188.1	11q13.1	2014-03-13	2004-03-25		ENSG00000172935	ENSG00000172935		"""GPCR / Class A : Orphans"""	24828	protein-coding gene	gene with protein product		607233	"""G protein-coupled receptor 168"", ""G protein-coupled receptor 140"""	GPR168, GPR140		12477932	Standard	NM_001098515		Approved	MGC21621, mrgF	uc001oop.4	Q96AM1	OTTHUMG00000167897	ENST00000309099.6:c.125C>T	11.37:g.68773653G>A	ENSP00000309782:p.Pro42Leu	False	False		Somatic	0				MRGPRF_ENST00000441623.1_Missense_Mutation_p.P42L	p.P42L	NM_145015.4	NP_659452.3	WXS	Illumina HiSeq	Phase_I	Q96AM1	MRGRF_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		3	507	-			42					B3KV43|Q8NBK8	Missense_Mutation	SNP	ENST00000309099.6	37	c.125C>T	CCDS8188.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332758	0.41297	.	.	ENSG00000172935	ENST00000441623;ENST00000309099;ENST00000421543	T;T	0.05447	3.44;3.44	4.35	4.35	0.52113	.	0.000000	0.44483	D	0.000457	T	0.08447	0.0210	N	0.19112	0.55	0.09310	N	0.999993	D	0.69078	0.997	P	0.56088	0.791	T	0.36237	-0.9756	10	0.19590	T	0.45	-45.2304	12.2679	0.54689	0.0:0.0:1.0:0.0	.	42	Q96AM1	MRGRF_HUMAN	L	42	ENSP00000403660:P42L;ENSP00000309782:P42L	ENSP00000309782:P42L	P	-	2	0	MRGPRF	68530229	0.661000	0.27430	0.135000	0.22099	0.425000	0.31504	1.452000	0.35156	2.261000	0.74972	0.561000	0.74099	CCG		0.632	MRGPRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396875.1	0	NM_145015		11:68773653
CCKAR	886	broad.mit.edu	37	4	26491074	26491074	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr4:26491074A>C	ENST00000295589.3	-	2	339	c.145T>G	c.(145-147)Tcc>Gcc	p.S49A		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	49					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	AATATCAAGGAGTACAAGAGA	0.547																																						ENST00000295589.3		NA																	0				NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29						c.(145-147)Tcc>Gcc		cholecystokinin A receptor	Ceruletide(DB00403)						89.0	90.0	90.0					4																	26491074		2203	4300	6503	SO:0001583	missense	886				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	g.chr4:26491074A>C	L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"""GPCR / Class A : Cholecystokinin receptors"""	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.145T>G	4.37:g.26491074A>C	ENSP00000295589:p.Ser49Ala	False	False		Somatic	0					p.S49A	NM_000730.2	NP_000721.1	WXS	Illumina HiSeq	Phase_I	P32238	CCKAR_HUMAN			2	339	-		Breast(46;0.0503)	49					B2R9Z5	Missense_Mutation	SNP	ENST00000295589.3	37	c.145T>G	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	A	9.049	0.991544	0.18966	.	.	ENSG00000163394	ENST00000295589	T	0.37752	1.18	5.24	4.03	0.46877	.	0.310205	0.34986	N	0.003532	T	0.17831	0.0428	N	0.12502	0.225	0.32321	N	0.562438	B	0.16166	0.016	B	0.20184	0.028	T	0.25813	-1.0121	10	0.02654	T	1	.	11.3334	0.49490	0.8638:0.0:0.0:0.1362	.	49	P32238	CCKAR_HUMAN	A	49	ENSP00000295589:S49A	ENSP00000295589:S49A	S	-	1	0	CCKAR	26100172	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	3.999000	0.57031	0.796000	0.33947	0.459000	0.35465	TCC		0.547	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2	0			4:26491074
APPL1	26060	broad.mit.edu	37	3	57282266	57282266	+	Silent	SNP	A	A	C	rs184540761	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr3:57282266A>C	ENST00000288266.3	+	10	897	c.750A>C	c.(748-750)acA>acC	p.T250T		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	250	Required for RAB5A binding.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		TGCAACAGACAATAGAGGATT	0.428																																						ENST00000288266.3		NA																	0				breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27						c.(748-750)acA>acC		adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1							120.0	112.0	115.0					3																	57282266		2203	4300	6503	SO:0001819	synonymous_variant	26060				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding	g.chr3:57282266A>C	AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"""Pleckstrin homology (PH) domain containing"""	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.750A>C	3.37:g.57282266A>C		False	False		Somatic	0					p.T250T	NM_012096.2	NP_036228.1	WXS	Illumina HiSeq	Phase_I	Q9UKG1	DP13A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)	10	897	+			250			Required for RAB5A binding.		Q9P2B9	Silent	SNP	ENST00000288266.3	37	c.750A>C	CCDS2882.1																																																																																				0.428	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	0	NM_012096		3:57282266
INHBA	3624	broad.mit.edu	37	7	41729807	41729807	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:41729807C>T	ENST00000242208.4	-	3	968	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	INHBA_ENST00000442711.1_Missense_Mutation_p.R241Q|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	241					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ACAGGCAATCCGAACGTCCAG	0.572										TSP Lung(11;0.080)																												ENST00000242208.4		NA																	0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(721-723)cGg>cAg		inhibin, beta A							47.0	46.0	47.0					7																	41729807		2203	4300	6503	SO:0001583	missense	3624				cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	g.chr7:41729807C>T		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.722G>A	7.37:g.41729807C>T	ENSP00000242208:p.Arg241Gln	False	False	TSP Lung(11;0.080)	Somatic	0				AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.R241Q|INHBA_ENST00000464515.1_5'UTR	p.R241Q	NM_002192.2	NP_002183.1	WXS	Illumina HiSeq	Phase_I	P08476	INHBA_HUMAN			3	968	-			241					Q14599	Missense_Mutation	SNP	ENST00000242208.4	37	c.722G>A	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	.	36	5.853696	0.97030	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.62788	0.0;0.0	6.06	6.06	0.98353	Transforming growth factor-beta, N-terminal (1);	0.431115	0.26859	N	0.022126	T	0.73118	0.3546	L	0.40543	1.245	0.80722	D	1	D	0.71674	0.998	D	0.68353	0.957	T	0.67352	-0.5692	10	0.33141	T	0.24	-20.8404	20.6208	0.99490	0.0:1.0:0.0:0.0	.	241	P08476	INHBA_HUMAN	Q	241	ENSP00000242208:R241Q;ENSP00000397197:R241Q	ENSP00000242208:R241Q	R	-	2	0	INHBA	41696332	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.915000	0.63355	2.882000	0.98803	0.655000	0.94253	CGG		0.572	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1	0			7:41729807
PTPN23	25930	broad.mit.edu	37	3	47453870	47453870	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr3:47453870C>T	ENST00000265562.4	+	23	4353	c.4276C>T	c.(4276-4278)Cgg>Tgg	p.R1426W	PTPN23_ENST00000431726.1_Missense_Mutation_p.R1300W	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1426	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.R1426W(1)		breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCAGCTGGTGCGGCGCATGCG	0.647																																						ENST00000265562.4		NA																	1	Substitution - Missense(1)	p.R1426W(1)	prostate(1)	breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23						c.(4276-4278)Cgg>Tgg		protein tyrosine phosphatase, non-receptor type 23							37.0	37.0	37.0					3																	47453870		2203	4300	6503	SO:0001583	missense	25930				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47453870C>T	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.4276C>T	3.37:g.47453870C>T	ENSP00000265562:p.Arg1426Trp	False	False		Somatic	0				PTPN23_ENST00000431726.1_Missense_Mutation_p.R1300W	p.R1426W	NM_015466.2	NP_056281.1	WXS	Illumina HiSeq	Phase_I	Q9H3S7	PTN23_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	23	4353	+			1426			Tyrosine-protein phosphatase.		A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	ENST00000265562.4	37	c.4276C>T	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.559102	0.45590	.	.	ENSG00000076201	ENST00000265562	D	0.84146	-1.81	3.99	3.08	0.35506	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.315773	0.26304	N	0.025156	D	0.86377	0.5918	L	0.49571	1.57	0.32817	D	0.502271	D	0.76494	0.999	P	0.57846	0.828	D	0.87764	0.2600	10	0.56958	D	0.05	-21.5748	9.5586	0.39355	0.5458:0.4541:0.0:0.0	.	1426	Q9H3S7	PTN23_HUMAN	W	1426	ENSP00000265562:R1426W	ENSP00000265562:R1426W	R	+	1	2	PTPN23	47428874	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	1.491000	0.35583	0.813000	0.34350	0.563000	0.77884	CGG		0.647	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	0	NM_015466		3:47453870
RAPGEF2	9693	broad.mit.edu	37	4	160260455	160260455	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr4:160260455G>T	ENST00000264431.4	+	13	2419	c.2000G>T	c.(1999-2001)aGa>aTa	p.R667I		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	667	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AAACAAAGAAGACTTCCAGAT	0.438																																						ENST00000264431.4		NA																	0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70						c.(1999-2001)aGa>aTa		Rap guanine nucleotide exchange factor (GEF) 2							134.0	125.0	128.0					4																	160260455		1878	4099	5977	SO:0001583	missense	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160260455G>T	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.2000G>T	4.37:g.160260455G>T	ENSP00000264431:p.Arg667Ile	False	False		Somatic	0					p.R667I	NM_014247.2	NP_055062.1	WXS	Illumina HiSeq	Phase_I	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	13	2419	+	all_hematologic(180;0.24)		667			Ras-associating.		D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.2000G>T	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.766898	0.90020	.	.	ENSG00000109756	ENST00000264431	T	0.30182	1.54	5.18	5.18	0.71444	Ras-association (3);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.60573	0.2279	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65705	-0.6103	10	0.87932	D	0	.	19.0561	0.93066	0.0:0.0:1.0:0.0	.	667	Q9Y4G8	RPGF2_HUMAN	I	667	ENSP00000264431:R667I	ENSP00000264431:R667I	R	+	2	0	RAPGEF2	160479905	1.000000	0.71417	0.020000	0.16555	0.929000	0.56500	9.726000	0.98782	2.571000	0.86741	0.591000	0.81541	AGA		0.438	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	0	NM_014247		4:160260455
TSHZ2	128553	broad.mit.edu	37	20	51870106	51870106	+	Missense_Mutation	SNP	G	G	A	rs201799053		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr20:51870106G>A	ENST00000371497.5	+	2	996	c.109G>A	c.(109-111)Ggt>Agt	p.G37S	TSHZ2_ENST00000329613.6_Missense_Mutation_p.G34S|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_Missense_Mutation_p.G34S	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	37					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ggaggaCAGCGGTTCAGTAGC	0.532																																						ENST00000371497.5		NA																	0				NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(109-111)Ggt>Agt		teashirt zinc finger homeobox 2		G	SER/GLY,SER/GLY	0,4406		0,0,2203	67.0	63.0	65.0		100,109	4.7	0.9	20		65	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	TSHZ2	NM_001193421.1,NM_173485.5	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	34/1032,37/1035	51870106	1,13005	2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51870106G>A	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.109G>A	20.37:g.51870106G>A	ENSP00000360552:p.Gly37Ser	False	False		Somatic	0				TSHZ2_ENST00000603338.2_Missense_Mutation_p.G34S|TSHZ2_ENST00000329613.6_Missense_Mutation_p.G34S	p.G37S	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	WXS	Illumina HiSeq	Phase_I	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	996	+			37					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.109G>A	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	G	5.295	0.239845	0.10023	0.0	1.16E-4	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.14022	2.55;2.54	5.7	4.66	0.58398	.	0.302267	0.35615	N	0.003083	T	0.08670	0.0215	L	0.29908	0.895	0.30185	N	0.800061	B	0.19200	0.034	B	0.08055	0.003	T	0.04900	-1.0919	10	0.48119	T	0.1	-17.7222	3.7522	0.08570	0.3374:0.0:0.6626:0.0	.	37	Q9NRE2	TSH2_HUMAN	S	37;34	ENSP00000360552:G37S;ENSP00000333114:G34S	ENSP00000333114:G34S	G	+	1	0	TSHZ2	51303513	0.992000	0.36948	0.935000	0.37517	0.345000	0.29048	2.759000	0.47573	2.685000	0.91497	0.643000	0.83706	GGT		0.532	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	0	NM_173485		20:51870106
IRS4	8471	broad.mit.edu	37	X	107977753	107977753	+	Nonsense_Mutation	SNP	T	T	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chrX:107977753T>A	ENST00000372129.2	-	1	1898	c.1822A>T	c.(1822-1824)Aaa>Taa	p.K608*	RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	608					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TTCAGAGATTTTCCACGTTCA	0.542																																						ENST00000372129.2		NA																	0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(1822-1824)Aaa>Taa		insulin receptor substrate 4							206.0	204.0	205.0					X																	107977753		2203	4300	6503	SO:0001587	stop_gained	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107977753T>A	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1822A>T	X.37:g.107977753T>A	ENSP00000361202:p.Lys608*	True	False		Somatic	0					p.K608*	NM_003604.2	NP_003595.1	WXS	Illumina HiSeq	Phase_I	O14654	IRS4_HUMAN			1	1898	-			608						Nonsense_Mutation	SNP	ENST00000372129.2	37	c.1822A>T	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	T	38	6.696633	0.97772	.	.	ENSG00000133124	ENST00000372129	.	.	.	4.77	4.77	0.60923	.	0.116050	0.53938	D	0.000052	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.1376	13.1593	0.59535	0.0:0.0:0.0:1.0	.	.	.	.	X	608	.	ENSP00000361202:K608X	K	-	1	0	IRS4	107864409	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	3.745000	0.55119	1.757000	0.51966	0.417000	0.27973	AAA		0.542	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	0	NM_003604		X:107977753
CCDC171	203238	broad.mit.edu	37	9	15678782	15678782	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr9:15678782A>T	ENST00000380701.3	+	10	1431	c.1103A>T	c.(1102-1104)aAt>aTt	p.N368I	CCDC171_ENST00000297641.3_Missense_Mutation_p.N368I	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	368	Glu-rich.																TTCTCCAAAAATAAGAAACTA	0.308																																						ENST00000380701.3		NA																	0					NA						c.(1102-1104)aAt>aTt		coiled-coil domain containing 171							44.0	45.0	45.0					9																	15678782		2202	4293	6495	SO:0001583	missense	203238							g.chr9:15678782A>T	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.1103A>T	9.37:g.15678782A>T	ENSP00000370077:p.Asn368Ile	True	False		Somatic	0				CCDC171_ENST00000297641.3_Missense_Mutation_p.N368I	p.N368I	NM_173550.2	NP_775821.2	WXS	Illumina HiSeq	Phase_I	Q6TFL3	CI093_HUMAN			10	1431	+			368			Glu-rich.		B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	37	c.1103A>T	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	A	16.01	3.001777	0.54254	.	.	ENSG00000164989	ENST00000297641;ENST00000380701	T;T	0.15603	2.41;2.42	4.65	3.48	0.39840	.	0.284229	0.38436	N	0.001694	T	0.18383	0.0441	N	0.24115	0.695	0.80722	D	1	P;P;P	0.48016	0.904;0.904;0.904	P;P;P	0.53006	0.648;0.715;0.648	T	0.01657	-1.1302	10	0.39692	T	0.17	-0.7364	10.4109	0.44291	0.8358:0.1641:0.0:0.0	.	368;368;368	B7ZM22;Q6TFL3-3;Q6TFL3	.;.;CI093_HUMAN	I	368	ENSP00000297641:N368I;ENSP00000370077:N368I	ENSP00000297641:N368I	N	+	2	0	C9orf93	15668782	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.389000	0.59639	0.707000	0.31934	-0.501000	0.04562	AAT		0.308	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	0	NM_173550		9:15678782
PCDHB7	56129	broad.mit.edu	37	5	140554036	140554036	+	Silent	SNP	G	G	T	rs17844465		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr5:140554036G>T	ENST00000231137.3	+	1	1794	c.1620G>T	c.(1618-1620)gcG>gcT	p.A540A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	540	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCCCCCGCGCTGAGCAGCG	0.701																																						ENST00000231137.3		NA																	0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1618-1620)gcG>gcT									44.0	49.0	47.0					5																	140554036		2201	4298	6499	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554036G>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1620G>T	5.37:g.140554036G>T		False	False		Somatic	0					p.A540A	NM_018940.2	NP_061763.1	WXS	Illumina HiSeq	Phase_I	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1794	+			540			Cadherin 5.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1620G>T	CCDS4249.1																																																																																				0.701	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	0	NM_018940		5:140554036
ARHGEF10	9639	broad.mit.edu	37	8	1882002	1882002	+	Missense_Mutation	SNP	A	A	G	rs573337230		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr8:1882002A>G	ENST00000398564.1	+	26	3191	c.3191A>G	c.(3190-3192)aAg>aGg	p.K1064R	ARHGEF10_ENST00000518288.1_Missense_Mutation_p.K1063R|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.K1001R|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.K1039R|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.K1035R			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1064					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		AAAGTGATCAAGTTAGGCGTC	0.433																																						ENST00000518288.1		NA																	0				endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35						c.(3187-3189)aAg>aGg		Rho guanine nucleotide exchange factor (GEF) 10							158.0	151.0	153.0					8																	1882002		2203	4300	6503	SO:0001583	missense	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1882002A>G	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.3191A>G	8.37:g.1882002A>G	ENSP00000381571:p.Lys1064Arg	False	False		Somatic	0				ARHGEF10_ENST00000520359.1_Missense_Mutation_p.K1001R|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.K1064R|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.K1035R|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.K1039R	p.K1063R			WXS	Illumina HiSeq	Phase_I	O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	27	3351	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	1064					O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	ENST00000398564.1	37	c.3188A>G		.	.	.	.	.	.	.	.	.	.	A	5.753	0.323425	0.10900	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398564;ENST00000262112;ENST00000522435	T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38	5.11	2.74	0.32292	.	0.095581	0.64402	N	0.000001	T	0.27241	0.0668	L	0.41079	1.255	0.38419	D	0.946126	B;B	0.21520	0.057;0.004	B;B	0.25405	0.06;0.013	T	0.08371	-1.0725	10	0.23891	T	0.37	-32.4453	9.2439	0.37513	0.8544:0.0:0.1456:0.0	.	1001;1039	O15013-7;O15013-5	.;.	R	1039;1001;1063;1064;1035;683	ENSP00000340297:K1039R;ENSP00000427909:K1001R;ENSP00000431012:K1063R;ENSP00000381571:K1064R;ENSP00000262112:K1035R;ENSP00000427768:K683R	ENSP00000262112:K1035R	K	+	2	0	ARHGEF10	1869409	0.983000	0.35010	0.000000	0.03702	0.003000	0.03518	4.878000	0.63093	0.369000	0.24510	0.533000	0.62120	AAG		0.433	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding		0			8:1882002
ADAMTS10	81794	broad.mit.edu	37	19	8666006	8666006	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr19:8666006G>T	ENST00000597188.1	-	6	886	c.616C>A	c.(616-618)Cca>Aca	p.P206T	ADAMTS10_ENST00000270328.4_Missense_Mutation_p.P206T|ADAMTS10_ENST00000596709.1_5'UTR	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	206						extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						AGCCACCATGGCCGCCCTTTC	0.627																																						ENST00000270328.4		NA																	0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						c.(616-618)Cca>Aca		ADAM metallopeptidase with thrombospondin type 1 motif, 10							27.0	28.0	28.0					19																	8666006		2202	4298	6500	SO:0001583	missense	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8666006G>T	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.616C>A	19.37:g.8666006G>T	ENSP00000471851:p.Pro206Thr	False	False		Somatic	0				ADAMTS10_ENST00000597188.1_Missense_Mutation_p.P206T|ADAMTS10_ENST00000596709.1_5'UTR	p.P206T			WXS	Illumina HiSeq	Phase_I	Q9H324	ATS10_HUMAN			5	882	-			206					M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	c.616C>A	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.757132	0.31137	.	.	ENSG00000142303	ENST00000270328	T	0.59502	0.26	5.47	5.47	0.80525	.	0.254626	0.32401	N	0.006146	T	0.47210	0.1433	L	0.34521	1.04	0.28790	N	0.899372	B	0.06786	0.001	B	0.08055	0.003	T	0.24621	-1.0155	10	0.12766	T	0.61	.	18.3275	0.90259	0.0:0.0:1.0:0.0	.	206	Q9H324	ATS10_HUMAN	T	206	ENSP00000270328:P206T	ENSP00000270328:P206T	P	-	1	0	ADAMTS10	8572006	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	3.922000	0.56462	2.575000	0.86900	0.555000	0.69702	CCA		0.627	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	0	NM_030957		19:8666006
TEKT5	146279	broad.mit.edu	37	16	10721628	10721628	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr16:10721628C>T	ENST00000283025.2	-	7	1341	c.1270G>A	c.(1270-1272)Gac>Aac	p.D424N	TEKT5_ENST00000574923.1_5'UTR	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	424						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						TGCAGGGTGTCGTCGATGGTG	0.542																																						ENST00000283025.2		NA																	0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						c.(1270-1272)Gac>Aac		tektin 5							50.0	43.0	45.0					16																	10721628		2197	4300	6497	SO:0001583	missense	146279				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr16:10721628C>T		CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.1270G>A	16.37:g.10721628C>T	ENSP00000283025:p.Asp424Asn	False	False		Somatic	0				TEKT5_ENST00000574923.1_5'UTR	p.D424N	NM_144674.1	NP_653275.1	WXS	Illumina HiSeq	Phase_I	Q96M29	TEKT5_HUMAN			7	1341	-			424					A1L3Z3	Missense_Mutation	SNP	ENST00000283025.2	37	c.1270G>A	CCDS10542.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688739	0.48097	.	.	ENSG00000153060	ENST00000283025	T	0.02525	4.26	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000009	T	0.04724	0.0128	L	0.49513	1.565	0.58432	D	0.999996	B	0.25521	0.128	B	0.26517	0.07	T	0.43718	-0.9374	10	0.36615	T	0.2	-37.626	15.4575	0.75327	0.0:1.0:0.0:0.0	.	424	Q96M29	TEKT5_HUMAN	N	424	ENSP00000283025:D424N	ENSP00000283025:D424N	D	-	1	0	TEKT5	10629129	1.000000	0.71417	0.981000	0.43875	0.308000	0.27856	5.521000	0.67086	2.432000	0.82394	0.505000	0.49811	GAC		0.542	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	0	NM_144674		16:10721628
SLC30A8	169026	broad.mit.edu	37	8	118165302	118165302	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr8:118165302C>T	ENST00000456015.2	+	3	391	c.391C>T	c.(391-393)Cgg>Tgg	p.R131W	SLC30A8_ENST00000519688.1_Missense_Mutation_p.R82W|SLC30A8_ENST00000427715.2_Missense_Mutation_p.R82W|SLC30A8_ENST00000521243.1_Missense_Mutation_p.R82W	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	131					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TCCCTCTAAGCGGCTGACATT	0.507																																					Ovarian(162;1202 1922 6011 16223 52092)	ENST00000427715.2		NA																	0				breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41						c.(244-246)Cgg>Tgg		solute carrier family 30 (zinc transporter), member 8							120.0	88.0	98.0					8																	118165302		2203	4300	6503	SO:0001583	missense	169026				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	g.chr8:118165302C>T		CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"""Solute carriers"""	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.391C>T	8.37:g.118165302C>T	ENSP00000415011:p.Arg131Trp	False	False		Somatic	0				SLC30A8_ENST00000521243.1_Missense_Mutation_p.R82W|SLC30A8_ENST00000519688.1_Missense_Mutation_p.R82W|SLC30A8_ENST00000456015.2_Missense_Mutation_p.R131W	p.R82W	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	WXS	Illumina HiSeq	Phase_I	Q8IWU4	ZNT8_HUMAN	STAD - Stomach adenocarcinoma(47;0.203)		6	678	+	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		131					A0AVP9|A5YM39|B4DPE0|Q8TCL3	Missense_Mutation	SNP	ENST00000456015.2	37	c.244C>T	CCDS6322.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024966	0.54683	.	.	ENSG00000164756	ENST00000521243;ENST00000524274;ENST00000427715;ENST00000519688;ENST00000456015	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	5.37	0.822	0.18806	.	0.812377	0.11451	N	0.562795	T	0.78104	0.4231	M	0.82923	2.615	0.09310	N	0.999999	D	0.65815	0.995	P	0.61722	0.893	T	0.70912	-0.4743	10	0.72032	D	0.01	-1.0271	15.0224	0.71640	0.69:0.31:0.0:0.0	.	131	Q8IWU4	ZNT8_HUMAN	W	82;82;82;82;131	ENSP00000428545:R82W;ENSP00000427760:R82W;ENSP00000407505:R82W;ENSP00000431069:R82W;ENSP00000415011:R131W	ENSP00000407505:R82W	R	+	1	2	SLC30A8	118234483	0.046000	0.20272	0.094000	0.20943	0.336000	0.28762	0.600000	0.24104	0.243000	0.21327	0.655000	0.94253	CGG		0.507	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	0	NM_173851		8:118165302
MYRF	745	broad.mit.edu	37	11	61549234	61549234	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:61549234G>A	ENST00000278836.5	+	22	3050	c.2954G>A	c.(2953-2955)cGc>cAc	p.R985H	TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Missense_Mutation_p.R950H|MYRF_ENST00000389602.4_Missense_Mutation_p.R376H	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	985					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GGCCGGGCCCGCCGAGGGGCC	0.687																																						ENST00000278836.5		NA																	0					NA						c.(2953-2955)cGc>cAc		myelin regulatory factor							22.0	28.0	26.0					11																	61549234		2200	4289	6489	SO:0001583	missense	745							g.chr11:61549234G>A		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.2954G>A	11.37:g.61549234G>A	ENSP00000278836:p.Arg985His	True	False		Somatic	0				MYRF_ENST00000389602.4_Missense_Mutation_p.R376H|MYRF_ENST00000265460.5_Missense_Mutation_p.R950H|TMEM258_ENST00000535042.1_Intron	p.R985H	NM_001127392.1	NP_001120864.1	WXS	Illumina HiSeq	Phase_I					22	3050	+			NA					O43582|Q9P1Q6	Missense_Mutation	SNP	ENST00000278836.5	37	c.2954G>A	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692483	0.68271	.	.	ENSG00000124920	ENST00000278836;ENST00000265460;ENST00000389602	T;T;T	0.34472	1.39;1.37;1.36	4.18	3.17	0.36434	.	0.248147	0.40554	N	0.001069	T	0.28665	0.0710	N	0.19112	0.55	0.80722	D	1	D;D;D	0.64830	0.99;0.994;0.99	P;P;P	0.50754	0.649;0.573;0.556	T	0.03863	-1.0997	10	0.72032	D	0.01	-30.166	6.972	0.24654	0.0:0.2891:0.5476:0.1634	.	376;950;985	B4DHB2;Q9Y2G1-2;Q9Y2G1	.;.;MRF_HUMAN	H	985;950;376	ENSP00000278836:R985H;ENSP00000265460:R950H;ENSP00000374253:R376H	ENSP00000265460:R950H	R	+	2	0	C11orf9	61305810	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.889000	0.39718	2.273000	0.75805	0.561000	0.74099	CGC		0.687	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	0	NM_013279		11:61549234
IGJ	3512	broad.mit.edu	37	4	71522118	71522118	+	Silent	SNP	G	G	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr4:71522118G>T	ENST00000254801.4	-	4	577	c.408C>A	c.(406-408)gtC>gtA	p.V136V	IGJ_ENST00000543780.1_Silent_p.V152V|ENAM_ENST00000472903.1_Intron	NM_144646.3	NP_653247.1	P01591	IGJ_HUMAN	immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides	136					adaptive immune response (GO:0002250)|antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of respiratory burst (GO:0060267)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|dimeric IgA immunoglobulin complex (GO:0071750)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|pentameric IgM immunoglobulin complex (GO:0071756)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7			Lung(101;0.235)			ATACGAGTGGGACCACAGCTG	0.453																																						ENST00000254801.4		NA																	0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(406-408)gtC>gtA		immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides							184.0	148.0	160.0					4																	71522118		2203	4300	6503	SO:0001819	synonymous_variant	3512				immune response	extracellular region	antigen binding	g.chr4:71522118G>T	M12759	CCDS3545.1	4q21	2012-10-02			ENSG00000132465	ENSG00000132465		"""Immunoglobulins / IGJ linker"""	5713	protein-coding gene	gene with protein product	"""immunoglobulin J chain"", ""IgJ chain"""	147790				3016707, 2984306	Standard	NM_144646		Approved	IGCJ, JCH	uc003hfn.4	P01591	OTTHUMG00000129909	ENST00000254801.4:c.408C>A	4.37:g.71522118G>T		True	False		Somatic	0				IGJ_ENST00000543780.1_Silent_p.V152V|ENAM_ENST00000472903.1_Intron	p.V136V	NM_144646.3	NP_653247.1	WXS	Illumina HiSeq	Phase_I	P01591	IGJ_HUMAN	Lung(101;0.235)		4	577	-			136						Silent	SNP	ENST00000254801.4	37	c.408C>A	CCDS3545.1																																																																																				0.453	IGJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252160.1	0	NM_144646		4:71522118
USP42	84132	broad.mit.edu	37	7	6189801	6189801	+	Silent	SNP	C	C	T	rs546255931		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:6189801C>T	ENST00000306177.5	+	13	2132	c.1974C>T	c.(1972-1974)aaC>aaT	p.N658N		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	658					cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		TGACCCTAAACGGTGCTAATA	0.567																																						ENST00000306177.5		NA																	0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(1972-1974)aaC>aaT		ubiquitin specific peptidase 42							37.0	42.0	40.0					7																	6189801		2043	4194	6237	SO:0001819	synonymous_variant	84132				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr7:6189801C>T	AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"""Ubiquitin-specific peptidases"""	20068	protein-coding gene	gene with protein product			"""ubiquitin specific protease 42"""			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.1974C>T	7.37:g.6189801C>T		True	False		Somatic	0					p.N658N	NM_032172.2	NP_115548.1	WXS	Illumina HiSeq	Phase_I	Q9H9J4	UBP42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)	13	2132	+		Ovarian(82;0.0423)	658					A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Silent	SNP	ENST00000306177.5	37	c.1974C>T	CCDS47535.1																																																																																				0.567	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	0	XM_166526		7:6189801
GLI3	2737	broad.mit.edu	37	7	42079807	42079807	+	Silent	SNP	G	G	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:42079807G>T	ENST00000395925.3	-	7	942	c.858C>A	c.(856-858)gcC>gcA	p.A286A	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	286					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GGCTCGGCCTGGCTGACAGCC	0.468									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3		NA																	0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(856-858)gcC>gcA		GLI family zinc finger 3							144.0	132.0	136.0					7																	42079807		2203	4300	6503	SO:0001819	synonymous_variant	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42079807G>T		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.858C>A	7.37:g.42079807G>T		False	False		Somatic	0				GLI3_ENST00000479210.1_5'UTR	p.A286A	NM_000168.5	NP_000159.3	WXS	Illumina HiSeq	Phase_I	P10071	GLI3_HUMAN			7	942	-			286					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	c.858C>A	CCDS5465.1																																																																																				0.468	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	0	NM_000168		7:42079807
NUAK1	9891	broad.mit.edu	37	12	106461627	106461627	+	Silent	SNP	G	G	A	rs143829749		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr12:106461627G>A	ENST00000261402.2	-	7	2318	c.939C>T	c.(937-939)agC>agT	p.S313S		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	313					cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						AGTCACACACGCTGCTCTTAT	0.587																																						ENST00000261402.2		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						c.(937-939)agC>agT		NUAK family, SNF1-like kinase, 1		G		1,4405	2.1+/-5.4	0,1,2202	76.0	65.0	69.0		939	-3.0	0.8	12	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NUAK1	NM_014840.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		313/662	106461627	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9891						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr12:106461627G>A	AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"""AMP-activated protein kinase family member 5"""	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.939C>T	12.37:g.106461627G>A		True	False		Somatic	0					p.S313S	NM_014840.2	NP_055655.1	WXS	Illumina HiSeq	Phase_I	O60285	NUAK1_HUMAN			7	2318	-			313					A7MD39|Q96KA8	Silent	SNP	ENST00000261402.2	37	c.939C>T	CCDS31892.1																																																																																				0.587	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	0	NM_014840		12:106461627
USH2A	7399	broad.mit.edu	37	1	216496975	216496975	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr1:216496975C>T	ENST00000307340.3	-	8	1777	c.1391G>A	c.(1390-1392)cGt>cAt	p.R464H	USH2A_ENST00000366942.3_Missense_Mutation_p.R464H|USH2A_ENST00000366943.2_Missense_Mutation_p.R464H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	464	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.		R -> C (in USH2A; unknown pathological significance). {ECO:0000269|PubMed:15325563}.		hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTATCCAGGACGATAATTTGG	0.373										HNSCC(13;0.011)																												ENST00000366943.2		NA																	0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(1390-1392)cGt>cAt		Usher syndrome 2A (autosomal recessive, mild)							138.0	140.0	140.0					1																	216496975		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216496975C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1391G>A	1.37:g.216496975C>T	ENSP00000305941:p.Arg464His	False	False	HNSCC(13;0.011)	Somatic	0				USH2A_ENST00000366942.3_Missense_Mutation_p.R464H|USH2A_ENST00000307340.3_Missense_Mutation_p.R464H	p.R464H			WXS	Illumina HiSeq	Phase_I	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	8	1777	-			464		R -> C (in USH2A; uncertain pathogenicity).	Laminin N-terminal.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.1391G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	32	5.143821	0.94603	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.25579	2.16;2.15;1.79	5.23	5.23	0.72850	Laminin, N-terminal (3);	0.000000	0.42420	D	0.000719	T	0.61986	0.2391	M	0.91920	3.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.987;1.0	T	0.72093	-0.4394	10	0.87932	D	0	.	18.8157	0.92076	0.0:1.0:0.0:0.0	.	464;464	O75445-2;O75445	.;USH2A_HUMAN	H	464	ENSP00000305941:R464H;ENSP00000355910:R464H;ENSP00000355909:R464H	ENSP00000305941:R464H	R	-	2	0	USH2A	214563598	1.000000	0.71417	0.994000	0.49952	0.975000	0.68041	5.485000	0.66850	2.424000	0.82194	0.655000	0.94253	CGT		0.373	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	0	NM_007123		1:216496975
PRICKLE1	144165	broad.mit.edu	37	12	42854329	42854329	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr12:42854329T>C	ENST00000455697.1	-	8	2063	c.1778A>G	c.(1777-1779)gAg>gGg	p.E593G	PRICKLE1_ENST00000345127.3_Missense_Mutation_p.E593G|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.E593G|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.E593G|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.E593G	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	593					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		CTTTAAGGACTCTGCACTCCT	0.438																																						ENST00000455697.1		NA																	0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						c.(1777-1779)gAg>gGg		prickle homolog 1 (Drosophila)							139.0	132.0	135.0					12																	42854329		2203	4300	6503	SO:0001583	missense	0				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	g.chr12:42854329T>C	AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.1778A>G	12.37:g.42854329T>C	ENSP00000401060:p.Glu593Gly	False	False		Somatic	0				PRICKLE1_ENST00000445766.2_Missense_Mutation_p.E593G|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.E593G|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.E593G|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.E593G	p.E593G	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	WXS	Illumina HiSeq	Phase_I	Q96MT3	PRIC1_HUMAN		GBM - Glioblastoma multiforme(48;0.2)	8	2063	-	all_cancers(12;4.25e-05)|Breast(8;0.176)		593					Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	ENST00000455697.1	37	c.1778A>G	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	T	17.03	3.284911	0.59867	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43	5.56	5.56	0.83823	.	0.198871	0.52532	D	0.000063	T	0.62648	0.2445	L	0.61218	1.895	0.52501	D	0.999951	P	0.36222	0.544	B	0.27887	0.084	T	0.68398	-0.5419	10	0.87932	D	0	-11.3229	16.0186	0.80464	0.0:0.0:0.0:1.0	.	593	Q96MT3	PRIC1_HUMAN	G	593	ENSP00000401060:E593G;ENSP00000398947:E593G;ENSP00000448359:E593G;ENSP00000345064:E593G;ENSP00000449819:E593G	ENSP00000345064:E593G	E	-	2	0	PRICKLE1	41140596	1.000000	0.71417	0.989000	0.46669	0.996000	0.88848	4.756000	0.62205	2.244000	0.73946	0.528000	0.53228	GAG		0.438	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1	0			12:42854329
BPIFB1	92747	broad.mit.edu	37	20	31876575	31876575	+	Silent	SNP	C	C	T	rs150828161		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr20:31876575C>T	ENST00000253354.1	+	3	305	c.144C>T	c.(142-144)aaC>aaT	p.N48N		NM_033197.2	NP_149974.2	Q8TDL5	BPIB1_HUMAN	BPI fold containing family B, member 1	48					innate immune response in mucosa (GO:0002227)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										AGGACCACAACGCCACCAGCA	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		18966	0.0		0.001	False		,,,				2504	0.0					ENST00000253354.1		NA																	0					NA						c.(142-144)aaC>aaT		BPI fold containing family B, member 1		C		0,4406		0,0,2203	50.0	49.0	49.0		144	-7.5	0.0	20	dbSNP_134	49	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	BPIFB1	NM_033197.2		0,4,6499	TT,TC,CC		0.0465,0.0,0.0308		48/485	31876575	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	92747					extracellular space	lipid binding	g.chr20:31876575C>T	BC008429	CCDS13218.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000125999	ENSG00000125999		"""BPI fold containing"""	16108	protein-coding gene	gene with protein product	"""von Ebner minor salivary gland protein"""		"""chromosome 20 open reading frame 114"""	C20orf114		11971875, 21787333	Standard	NM_033197		Approved	dJ1187J4.1, MGC14597, bA49G10.6, LPLUNC1, VEMSGP	uc002wyw.1	Q8TDL5	OTTHUMG00000032252	ENST00000253354.1:c.144C>T	20.37:g.31876575C>T		False	False		Somatic	0					p.N48N	NM_033197.2	NP_149974.2	WXS	Illumina HiSeq	Phase_I	Q8TDL5	LPLC1_HUMAN			3	305	+			48					A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6	Silent	SNP	ENST00000253354.1	37	c.144C>T	CCDS13218.1																																																																																				0.642	BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106499.2	0	NM_033197		20:31876575
NBPF10	100132406	broad.mit.edu	37	1	145323670	145323670	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr1:145323670A>C	ENST00000342960.5	+	27	3542	c.3507A>C	c.(3505-3507)gaA>gaC	p.E1169D	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	756						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AAAAGGACGAAGAAGAGGAAG	0.463																																						ENST00000342960.5		NA																	0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(3505-3507)gaA>gaC		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145323670A>C	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.3507A>C	1.37:g.145323670A>C	ENSP00000345684:p.Glu1169Asp	False	False		Somatic	0				NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	p.E1169D	NM_001039703.4	NP_001034792.4	WXS	Illumina HiSeq	Phase_I	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	27	3542	+	all_hematologic(923;0.032)		1169					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.3507A>C	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	2.408	-0.335916	0.05278	.	.	ENSG00000163386	ENST00000342960	T	0.03242	4.0	.	.	.	.	.	.	.	.	T	0.00440	0.0014	N	0.03608	-0.345	0.09310	N	1	.	.	.	.	.	.	T	0.43750	-0.9372	5	0.31617	T	0.26	.	.	.	.	.	.	.	.	D	1169	ENSP00000345684:E1169D	ENSP00000345684:E1169D	E	+	3	2	NBPF10	144035027	0.005000	0.15991	0.002000	0.10522	0.087000	0.18053	-0.908000	0.04063	-0.792000	0.04480	0.128000	0.15822	GAA		0.463	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	NM_001039703		1:145323670
SPACA7	122258	broad.mit.edu	37	13	113053418	113053418	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr13:113053418G>A	ENST00000283550.3	+	4	347	c.280G>A	c.(280-282)Gag>Aag	p.E94K	SPACA7_ENST00000375699.3_Missense_Mutation_p.E63K	NM_145248.4	NP_660291.2	Q96KW9	SPAC7_HUMAN	sperm acrosome associated 7	94						acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)				large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						TGGTGGTTCTGAGAATTACCA	0.353																																						ENST00000375699.3		NA																	0				large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						c.(187-189)Gag>Aag		sperm acrosome associated 7							89.0	91.0	90.0					13																	113053418		2203	4300	6503	SO:0001583	missense	122258					extracellular region		g.chr13:113053418G>A	BC016750	CCDS9524.1	13q34	2013-10-11	2011-03-15	2011-03-15	ENSG00000153498	ENSG00000153498			29575	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 28"""	C13orf28		22495889	Standard	NM_145248		Approved		uc001vsd.2	Q96KW9	OTTHUMG00000017365	ENST00000283550.3:c.280G>A	13.37:g.113053418G>A	ENSP00000283550:p.Glu94Lys	False	False		Somatic	0				SPACA7_ENST00000283550.3_Missense_Mutation_p.E94K	p.E63K			WXS	Illumina HiSeq	Phase_I	Q96KW9	SPAC7_HUMAN			3	359	+			94					Q5T8L1	Missense_Mutation	SNP	ENST00000283550.3	37	c.187G>A	CCDS9524.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.494488	0.26774	.	.	ENSG00000153498	ENST00000283550;ENST00000414180;ENST00000443541;ENST00000375699	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	2.98	2.1	0.27182	.	.	.	.	.	T	0.42449	0.1203	L	0.29908	0.895	0.09310	N	1	D	0.54207	0.965	P	0.50049	0.629	T	0.23048	-1.0199	9	0.87932	D	0	-9.0944	8.1132	0.30926	0.0:0.3265:0.6735:0.0	.	94	Q96KW9	SPAC7_HUMAN	K	94;82;80;63	ENSP00000283550:E94K;ENSP00000416096:E82K;ENSP00000406733:E80K;ENSP00000364851:E63K	ENSP00000283550:E94K	E	+	1	0	SPACA7	112101419	0.000000	0.05858	0.026000	0.17262	0.065000	0.16274	-0.208000	0.09371	0.743000	0.32719	0.650000	0.86243	GAG		0.353	SPACA7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045820.2	0	NM_145248		13:113053418
ESCO2	157570	broad.mit.edu	37	8	27634027	27634027	+	Silent	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr8:27634027C>T	ENST00000305188.8	+	3	440	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L	ESCO2_ENST00000397418.2_5'UTR|ESCO2_ENST00000523910.1_3'UTR|RNU6-1276P_ENST00000365372.1_RNA	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	68					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		AATAAATAGACTGCCATCAGC	0.368									SC Phocomelia syndrome																													ENST00000305188.8		NA																	0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(202-204)Ctg>Ttg		establishment of sister chromatid cohesion N-acetyltransferase 2							60.0	59.0	59.0					8																	27634027		2203	4300	6503	SO:0001819	synonymous_variant	157570	SC Phocomelia syndrome	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr8:27634027C>T	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"""Roberts syndrome"", ""establishment of cohesion 1 homolog 2 (S. cerevisiae)"""	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.202C>T	8.37:g.27634027C>T		False	False		Somatic	0				ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR	p.L68L	NM_001017420.2	NP_001017420.1	WXS	Illumina HiSeq	Phase_I	Q56NI9	ESCO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)	3	440	+		Ovarian(32;0.000953)	68					B3KW59|Q49AP4	Silent	SNP	ENST00000305188.8	37	c.202C>T	CCDS34872.1																																																																																				0.368	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376276.1	0	NM_001017420		8:27634027
LTB4R	1241	broad.mit.edu	37	14	24785420	24785420	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr14:24785420C>T	ENST00000396789.4	+	2	2288	c.563C>T	c.(562-564)aCg>aTg	p.T188M	LTB4R_ENST00000345363.3_Missense_Mutation_p.T188M|LTB4R_ENST00000396782.2_Missense_Mutation_p.T188M	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	188					cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|muscle contraction (GO:0006936)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	leukotriene B4 receptor activity (GO:0001632)|leukotriene receptor activity (GO:0004974)|nucleotide binding (GO:0000166)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		GAGGCTGTCACGGGCTTCCTG	0.667																																						ENST00000396789.4		NA																	0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8						c.(562-564)aCg>aTg		leukotriene B4 receptor							49.0	52.0	51.0					14																	24785420		2203	4300	6503	SO:0001583	missense	1241				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding	g.chr14:24785420C>T	X98356	CCDS9626.1	14q11.2-q12	2012-08-10			ENSG00000213903	ENSG00000213903		"""GPCR / Class A : Leukotriene receptors"""	6713	protein-coding gene	gene with protein product		601531		P2RY7, GPR16, CMKRL1		8921391, 8702478	Standard	NM_181657		Approved	BLTR, P2Y7, LTB4R1	uc001wos.3	Q15722	OTTHUMG00000029346	ENST00000396789.4:c.563C>T	14.37:g.24785420C>T	ENSP00000380008:p.Thr188Met	True	False		Somatic	0				LTB4R_ENST00000345363.3_Missense_Mutation_p.T188M|LTB4R_ENST00000396782.2_Missense_Mutation_p.T188M	p.T188M	NM_181657.3	NP_858043.1	WXS	Illumina HiSeq	Phase_I	Q15722	LT4R1_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	2	2288	+			188					Q13305|Q53XV5|Q92641|Q9BSU5	Missense_Mutation	SNP	ENST00000396789.4	37	c.563C>T	CCDS9626.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957500	0.53400	.	.	ENSG00000213903	ENST00000345363;ENST00000396789;ENST00000556141;ENST00000396782	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	5.74	5.74	0.90152	GPCR, rhodopsin-like superfamily (1);	0.204720	0.41938	U	0.000790	T	0.37073	0.0990	N	0.25332	0.735	0.35269	D	0.780254	D	0.61697	0.99	P	0.55011	0.766	T	0.41716	-0.9493	10	0.35671	T	0.21	.	10.7916	0.46436	0.0:0.9141:0.0:0.0859	.	188	Q15722	LT4R1_HUMAN	M	188;188;88;188	ENSP00000307445:T188M;ENSP00000380008:T188M;ENSP00000451929:T88M;ENSP00000380002:T188M	ENSP00000307445:T188M	T	+	2	0	LTB4R	23855260	0.004000	0.15560	0.997000	0.53966	0.955000	0.61496	1.769000	0.38522	2.709000	0.92574	0.655000	0.94253	ACG		0.667	LTB4R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073198.4	0			14:24785420
NAALADL1	10004	broad.mit.edu	37	11	64812163	64812163	+	IGR	SNP	A	A	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:64812163A>C	ENST00000358658.3	-	0	2699				SAC3D1_ENST00000398846.1_Missense_Mutation_p.E347D|SAC3D1_ENST00000530213.1_3'UTR|SAC3D1_ENST00000531072.1_Missense_Mutation_p.E347D	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						CAGAGGAGGAAGATGAGGGCA	0.602																																						ENST00000398846.1		NA																	0				endometrium(2)|lung(1)	3						c.(1039-1041)gaA>gaC		SAC3 domain containing 1							51.0	55.0	54.0					11																	64812163		2128	4223	6351	SO:0001628	intergenic_variant	29901							g.chr11:64812163A>C	AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"""ileal peptidase I100"""	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595		11.37:g.64812163A>C		False	False		Somatic	0				SAC3D1_ENST00000530213.1_3'UTR|SAC3D1_ENST00000531072.1_Missense_Mutation_p.E347D	p.E347D	NM_013299.3	NP_037431.3	WXS	Illumina HiSeq	Phase_I					2	1430	+			NA					C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Missense_Mutation	SNP	ENST00000358658.3	37	c.1041A>C	CCDS31604.1	.	.	.	.	.	.	.	.	.	.	A	10.25	1.298035	0.23650	.	.	ENSG00000168061	ENST00000531072;ENST00000398846;ENST00000301885	T;T	0.31510	1.49;1.49	4.24	0.609	0.17575	.	0.689101	0.11980	N	0.510852	T	0.15782	0.0380	L	0.27053	0.805	0.20307	N	0.999911	B	0.12013	0.005	B	0.06405	0.002	T	0.29488	-1.0010	10	0.15952	T	0.53	-1.5817	3.1984	0.06641	0.3353:0.2503:0.4144:0.0	.	393	A6NKF1	SAC31_HUMAN	D	347;347;392	ENSP00000436649:E347D;ENSP00000381824:E347D	ENSP00000301885:E392D	E	+	3	2	SAC3D1	64568739	0.017000	0.18338	0.948000	0.38648	0.523000	0.34469	-0.945000	0.03909	0.268000	0.21939	0.528000	0.53228	GAA		0.602	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1	0	NM_005468		11:64812163
P2RY6	5031	broad.mit.edu	37	11	73008405	73008405	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:73008405C>T	ENST00000393590.2	+	2	1141	c.842C>T	c.(841-843)gCg>gTg	p.A281V	P2RY6_ENST00000349767.2_Missense_Mutation_p.A281V|P2RY6_ENST00000542092.1_Missense_Mutation_p.A281V|P2RY6_ENST00000538328.1_Missense_Mutation_p.A281V|P2RY6_ENST00000393591.1_Missense_Mutation_p.A281V|P2RY6_ENST00000393592.2_Missense_Mutation_p.A281V|P2RY6_ENST00000540124.1_Missense_Mutation_p.A281V|P2RY6_ENST00000540342.1_Missense_Mutation_p.A281V	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	281					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						GCCTTTGCAGCGGCCTACAAA	0.602																																						ENST00000393590.2		NA																	0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						c.(841-843)gCg>gTg		pyrimidinergic receptor P2Y, G-protein coupled, 6							55.0	56.0	55.0					11																	73008405		2199	4292	6491	SO:0001583	missense	0				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:73008405C>T		CCDS8220.1	11q13.5	2012-08-08				ENSG00000171631		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8543	protein-coding gene	gene with protein product		602451				8670200	Standard	NM_176797		Approved	P2Y6	uc001otr.4	Q15077		ENST00000393590.2:c.842C>T	11.37:g.73008405C>T	ENSP00000377215:p.Ala281Val	False	False		Somatic	0				P2RY6_ENST00000542092.1_Missense_Mutation_p.A281V|P2RY6_ENST00000540342.1_Missense_Mutation_p.A281V|P2RY6_ENST00000393591.1_Missense_Mutation_p.A281V|P2RY6_ENST00000540124.1_Missense_Mutation_p.A281V|P2RY6_ENST00000538328.1_Missense_Mutation_p.A281V|P2RY6_ENST00000349767.2_Missense_Mutation_p.A281V|P2RY6_ENST00000393592.2_Missense_Mutation_p.A281V	p.A281V	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	WXS	Illumina HiSeq	Phase_I	Q15077	P2RY6_HUMAN			2	1141	+			281					Q15754	Missense_Mutation	SNP	ENST00000393590.2	37	c.842C>T	CCDS8220.1	.	.	.	.	.	.	.	.	.	.	C	0.097	-1.157720	0.01686	.	.	ENSG00000171631	ENST00000540342;ENST00000542092;ENST00000349767;ENST00000393592;ENST00000393591;ENST00000540124;ENST00000393590;ENST00000538328	T;T;T;T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63;2.63;2.63;2.63	4.81	3.9	0.45041	GPCR, rhodopsin-like superfamily (1);	0.302347	0.31734	N	0.007143	T	0.03608	0.0103	N	0.02247	-0.625	0.09310	N	1	B	0.24651	0.108	B	0.16289	0.015	T	0.41875	-0.9484	10	0.02654	T	1	.	6.2522	0.20852	0.0:0.7162:0.0:0.2838	.	281	Q15077	P2RY6_HUMAN	V	281	ENSP00000443427:A281V;ENSP00000445652:A281V;ENSP00000309771:A281V;ENSP00000377217:A281V;ENSP00000377216:A281V;ENSP00000442551:A281V;ENSP00000377215:A281V;ENSP00000442990:A281V	ENSP00000309771:A281V	A	+	2	0	P2RY6	72686053	0.964000	0.33143	0.016000	0.15963	0.306000	0.27790	3.836000	0.55813	1.383000	0.46405	0.655000	0.94253	GCG		0.602	P2RY6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397349.1	0			11:73008405
DPY19L1	23333	broad.mit.edu	37	7	35051048	35051048	+	Silent	SNP	A	A	G	rs184950994		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:35051048A>G	ENST00000310974.4	-	5	489	c.345T>C	c.(343-345)agT>agC	p.S115S		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	115						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						TCCGGTACCAACTGGCCAAAA	0.323																																						ENST00000310974.4		NA																	0				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						c.(343-345)agT>agC		dpy-19-like 1 (C. elegans)							56.0	50.0	52.0					7																	35051048		1802	4070	5872	SO:0001819	synonymous_variant	23333					integral to membrane		g.chr7:35051048A>G	AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.345T>C	7.37:g.35051048A>G		False	False		Somatic	0					p.S115S	NM_015283.1	NP_056098.1	WXS	Illumina HiSeq	Phase_I	Q2PZI1	D19L1_HUMAN			5	489	-			115					O94954|Q4G151	Silent	SNP	ENST00000310974.4	37	c.345T>C	CCDS43567.1																																																																																				0.323	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337506.1	0			7:35051048
UNC5D	137970	broad.mit.edu	37	8	35647893	35647893	+	Missense_Mutation	SNP	G	G	A	rs374094705		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr8:35647893G>A	ENST00000404895.2	+	17	3002	c.2674G>A	c.(2674-2676)Gct>Act	p.A892T	AC012215.1_ENST00000437887.1_5'Flank|UNC5D_ENST00000449677.1_Missense_Mutation_p.A468T|UNC5D_ENST00000453357.2_Missense_Mutation_p.A887T|UNC5D_ENST00000416672.1_Missense_Mutation_p.A897T|UNC5D_ENST00000420357.1_Missense_Mutation_p.A825T|UNC5D_ENST00000287272.2_Missense_Mutation_p.A823T	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	892	Death.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		ATCTTATTTCGCTACACAAAG	0.393																																						ENST00000287272.2		NA																	0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(2467-2469)Gct>Act		unc-5 homolog D (C. elegans)		G	THR/ALA	0,4406		0,0,2203	114.0	101.0	106.0		2674	5.7	1.0	8		106	1,8599	1.2+/-3.3	0,1,4299	no	missense	UNC5D	NM_080872.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	892/954	35647893	1,13005	2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35647893G>A	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2674G>A	8.37:g.35647893G>A	ENSP00000385143:p.Ala892Thr	False	False		Somatic	0				UNC5D_ENST00000449677.1_Missense_Mutation_p.A468T|UNC5D_ENST00000404895.2_Missense_Mutation_p.A892T|UNC5D_ENST00000420357.1_Missense_Mutation_p.A825T|UNC5D_ENST00000416672.1_Missense_Mutation_p.A897T|UNC5D_ENST00000453357.2_Missense_Mutation_p.A887T	p.A823T			WXS	Illumina HiSeq	Phase_I	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	16	2487	+			892					Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.2467G>A	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470526	0.84533	0.0	1.16E-4	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	D;D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96;-1.96	5.72	5.72	0.89469	Death (2);DEATH-like (2);	0.049286	0.85682	D	0.000000	D	0.86694	0.5994	L	0.52011	1.625	0.58432	D	0.999999	P;P;P	0.52692	0.955;0.944;0.955	P;B;B	0.48598	0.583;0.177;0.271	D	0.87244	0.2268	10	0.59425	D	0.04	-14.2436	19.873	0.96856	0.0:0.0:1.0:0.0	.	468;887;892	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	T	892;825;823;897;887;468	ENSP00000385143:A892T;ENSP00000392739:A825T;ENSP00000287272:A823T;ENSP00000412652:A897T;ENSP00000394303:A887T;ENSP00000397211:A468T	ENSP00000287272:A823T	A	+	1	0	UNC5D	35767435	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.497000	0.81536	2.705000	0.92388	0.557000	0.71058	GCT		0.393	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2	0			8:35647893
SEC24C	9632	broad.mit.edu	37	10	75530836	75530836	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr10:75530836C>T	ENST00000339365.2	+	24	3430	c.3268C>T	c.(3268-3270)Cgg>Tgg	p.R1090W	SEC24C_ENST00000540668.1_Missense_Mutation_p.R338W|FUT11_ENST00000372841.3_5'Flank|SEC24C_ENST00000535742.1_Missense_Mutation_p.R338W|SEC24C_ENST00000411652.2_Missense_Mutation_p.R971W|SEC24C_ENST00000345254.4_Missense_Mutation_p.R1090W|FUT11_ENST00000394790.1_5'Flank	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	1090					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					CAAGGAGATTCGGCAGCTACT	0.488																																						ENST00000339365.2		NA																	0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(3268-3270)Cgg>Tgg		SEC24 family member C							154.0	151.0	152.0					10																	75530836		2203	4300	6503	SO:0001583	missense	9632				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr10:75530836C>T	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.3268C>T	10.37:g.75530836C>T	ENSP00000343405:p.Arg1090Trp	False	False		Somatic	0				SEC24C_ENST00000411652.2_Missense_Mutation_p.R971W|SEC24C_ENST00000345254.4_Missense_Mutation_p.R1090W|SEC24C_ENST00000540668.1_Missense_Mutation_p.R338W|SEC24C_ENST00000535742.1_Missense_Mutation_p.R338W	p.R1090W	NM_004922.3	NP_004913.2	WXS	Illumina HiSeq	Phase_I	P53992	SC24C_HUMAN			24	3430	+	Prostate(51;0.0112)		1090					B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	37	c.3268C>T	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909189	0.72868	.	.	ENSG00000176986	ENST00000535742;ENST00000345254;ENST00000540668;ENST00000339365;ENST00000411652	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.59662	0.2210	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.64410	0.925;0.925	T	0.64132	-0.6479	10	0.66056	D	0.02	-11.7174	15.3963	0.74798	0.1392:0.8608:0.0:0.0	.	971;1090	E7EP00;P53992	.;SC24C_HUMAN	W	338;1090;338;1090;971	ENSP00000446174:R338W;ENSP00000321845:R1090W;ENSP00000445023:R338W;ENSP00000343405:R1090W;ENSP00000402913:R971W	ENSP00000343405:R1090W	R	+	1	2	SEC24C	75200842	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.767000	0.62286	2.894000	0.99253	0.591000	0.81541	CGG		0.488	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1	0			10:75530836
KCNC4	3749	broad.mit.edu	37	1	110754459	110754459	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr1:110754459G>A	ENST00000369787.3	+	1	365	c.338G>A	c.(337-339)gGc>gAc	p.G113D	KCNC4_ENST00000413138.3_Missense_Mutation_p.G113D|KCNC4_ENST00000438661.2_Missense_Mutation_p.G113D|KCNC4-AS1_ENST00000455967.1_RNA	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	113					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		TACCGCACCGGCAAGCTGCAC	0.672																																						ENST00000369787.3		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32						c.(337-339)gGc>gAc		potassium voltage-gated channel, Shaw-related subfamily, member 4							42.0	48.0	46.0					1																	110754459		2203	4299	6502	SO:0001583	missense	3749				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr1:110754459G>A	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6236	protein-coding gene	gene with protein product		176265	"""chromosome 1 open reading frame 30"""	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.338G>A	1.37:g.110754459G>A	ENSP00000358802:p.Gly113Asp	False	False		Somatic	0				KCNC4_ENST00000438661.2_Missense_Mutation_p.G113D|KCNC4_ENST00000413138.3_Missense_Mutation_p.G113D	p.G113D	NM_004978.4	NP_004969.2	WXS	Illumina HiSeq	Phase_I	Q03721	KCNC4_HUMAN		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	365	+		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	113					Q3MIM4|Q5TBI6	Missense_Mutation	SNP	ENST00000369787.3	37	c.338G>A	CCDS821.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635059	0.87760	.	.	ENSG00000116396	ENST00000369787;ENST00000413138;ENST00000438661	T;T;T	0.79940	-1.32;-1.32;-1.32	4.15	4.15	0.48705	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.057921	0.64402	D	0.000002	D	0.90954	0.7156	M	0.93150	3.385	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	D	0.93638	0.6962	10	0.87932	D	0	.	16.0484	0.80735	0.0:0.0:1.0:0.0	.	113;113;113	Q03721;Q03721-3;Q03721-2	KCNC4_HUMAN;.;.	D	113	ENSP00000358802:G113D;ENSP00000388029:G113D;ENSP00000393655:G113D	ENSP00000358802:G113D	G	+	2	0	KCNC4	110555982	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.641000	0.98458	1.871000	0.54225	0.561000	0.74099	GGC		0.672	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	0	NM_001039574		1:110754459
CTSF	8722	broad.mit.edu	37	11	66333389	66333389	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:66333389C>A	ENST00000310325.5	-	7	986	c.877G>T	c.(877-879)Ggc>Tgc	p.G293C	ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA|CTSF_ENST00000533168.1_5'Flank	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	293					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CAGCAGGAGCCACACATGCCC	0.622																																						ENST00000310325.5		NA																	0				endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(877-879)Ggc>Tgc		cathepsin F							50.0	49.0	49.0					11																	66333389		2200	4295	6495	SO:0001583	missense	8722				proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr11:66333389C>A	AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090	ENST00000310325.5:c.877G>T	11.37:g.66333389C>A	ENSP00000310832:p.Gly293Cys	True	False		Somatic	0					p.G293C	NM_003793.3	NP_003784.2	WXS	Illumina HiSeq	Phase_I	Q9UBX1	CATF_HUMAN			7	986	-			293					B2R964|O95240|Q9NSU4|Q9UKQ5	Missense_Mutation	SNP	ENST00000310325.5	37	c.877G>T	CCDS8144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.9|27.9	4.870856|4.870856	0.91587|0.91587	.|.	.|.	ENSG00000174080|ENSG00000174080	ENST00000310325|ENST00000524994	D|.	0.93659|.	-3.26|.	5.54|5.54	5.54|5.54	0.83059|0.83059	Peptidase C1A, papain C-terminal (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.90957|0.90957	0.7157|0.7157	H|H	0.99058|0.99058	4.415|4.415	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.94151|0.94151	0.7405|0.7405	10|5	0.87932|.	D|.	0|.	.|.	17.339|17.339	0.87291|0.87291	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	293|.	Q9UBX1|.	CATF_HUMAN|.	C|L	293|140	ENSP00000310832:G293C|.	ENSP00000310832:G293C|.	G|W	-|-	1|2	0|0	CTSF|CTSF	66089965|66089965	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.923000|0.923000	0.55619|0.55619	4.866000|4.866000	0.63005|0.63005	2.779000|2.779000	0.95612|0.95612	0.591000|0.591000	0.81541|0.81541	GGC|TGG		0.622	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	0	NM_003793		11:66333389
FN1	2335	broad.mit.edu	37	2	216288871	216288871	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr2:216288871G>A	ENST00000359671.1	-	8	1479	c.1214C>T	c.(1213-1215)aCt>aTt	p.T405I	FN1_ENST00000356005.4_Missense_Mutation_p.T405I|FN1_ENST00000354785.4_Missense_Mutation_p.T405I|FN1_ENST00000345488.5_Missense_Mutation_p.T405I|FN1_ENST00000357009.2_Missense_Mutation_p.T405I|FN1_ENST00000446046.1_Missense_Mutation_p.T405I|FN1_ENST00000336916.4_Missense_Mutation_p.T405I|FN1_ENST00000357867.4_Missense_Mutation_p.T405I|FN1_ENST00000421182.1_Missense_Mutation_p.T405I|FN1_ENST00000323926.6_Missense_Mutation_p.T405I|FN1_ENST00000443816.1_Missense_Mutation_p.T405I|FN1_ENST00000346544.3_Missense_Mutation_p.T405I|FN1_ENST00000432072.2_Missense_Mutation_p.T405I|FN1_ENST00000426059.1_Missense_Mutation_p.T405I			P02751	FINC_HUMAN	fibronectin 1	405	Collagen-binding.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	ACACTCACCAGTGTGGTCTGT	0.488																																						ENST00000354785.4		NA																FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(1213-1215)aCt>aTt		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						125.0	106.0	113.0					2																	216288871		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216288871G>A		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.1214C>T	2.37:g.216288871G>A	ENSP00000352696:p.Thr405Ile	False	False		Somatic	0				FN1_ENST00000356005.4_Missense_Mutation_p.T405I|FN1_ENST00000323926.6_Missense_Mutation_p.T405I|FN1_ENST00000336916.4_Missense_Mutation_p.T405I|FN1_ENST00000432072.2_Missense_Mutation_p.T405I|FN1_ENST00000359671.1_Missense_Mutation_p.T405I|FN1_ENST00000346544.3_Missense_Mutation_p.T405I|FN1_ENST00000426059.1_Missense_Mutation_p.T405I|FN1_ENST00000357009.2_Missense_Mutation_p.T405I|FN1_ENST00000421182.1_Missense_Mutation_p.T405I|FN1_ENST00000345488.5_Missense_Mutation_p.T405I|FN1_ENST00000357867.4_Missense_Mutation_p.T405I|FN1_ENST00000446046.1_Missense_Mutation_p.T405I|FN1_ENST00000443816.1_Missense_Mutation_p.T405I	p.T405I			WXS	Illumina HiSeq	Phase_I	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	8	1583	-		Renal(323;0.127)	405			Collagen-binding.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.1214C>T		.	.	.	.	.	.	.	.	.	.	G	20.9	4.068483	0.76301	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.49432	0.78;2.14;2.32;0.86;2.38;2.02;2.36;2.02;2.31;2.06;1.55;0.85;1.45;1.47	5.97	5.97	0.96955	.	0.537042	0.19271	N	0.118405	T	0.51822	0.1697	L	0.29908	0.895	0.36489	D	0.868311	B;P;B;D;B;B;P;P;B;B;P	0.60575	0.073;0.839;0.198;0.988;0.265;0.173;0.511;0.843;0.265;0.265;0.715	B;P;B;P;B;B;B;B;B;B;B	0.60609	0.083;0.452;0.135;0.877;0.13;0.061;0.239;0.128;0.13;0.13;0.39	T	0.59156	-0.7507	10	0.66056	D	0.02	.	10.327	0.43798	0.0:0.1207:0.6964:0.1828	.	405;405;405;405;405;405;405;405;405;405;405	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	I	405	ENSP00000394423:T405I;ENSP00000323534:T405I;ENSP00000338200:T405I;ENSP00000350534:T405I;ENSP00000346839:T405I;ENSP00000352696:T405I;ENSP00000265312:T405I;ENSP00000273049:T405I;ENSP00000349509:T405I;ENSP00000410422:T405I;ENSP00000415018:T405I;ENSP00000399538:T405I;ENSP00000348285:T405I;ENSP00000398907:T405I	ENSP00000265313:T405I	T	-	2	0	FN1	215997116	0.995000	0.38212	0.985000	0.45067	0.985000	0.73830	2.437000	0.44828	2.836000	0.97738	0.655000	0.94253	ACT		0.488	FN1-204	KNOWN	basic	protein_coding	protein_coding		0	NM_212476		2:216288871
GABRA6	2559	broad.mit.edu	37	5	161115979	161115979	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr5:161115979C>T	ENST00000274545.5	+	4	683	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	GABRA6_ENST00000523217.1_Intron|GABRA6_ENST00000522269.1_3'UTR|RP11-348M17.2_ENST00000521984.1_RNA			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	84					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TGTTTTTTTCCGCCAGACCTG	0.408										TCGA Ovarian(5;0.080)																												ENST00000274545.5		NA																	0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(250-252)Cgc>Tgc		gamma-aminobutyric acid (GABA) A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						81.0	83.0	82.0					5																	161115979		2203	4299	6502	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161115979C>T		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.250C>T	5.37:g.161115979C>T	ENSP00000274545:p.Arg84Cys	False	False	TCGA Ovarian(5;0.080)	Somatic	0				GABRA6_ENST00000522269.1_3'UTR|RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Intron	p.R84C			WXS	Illumina HiSeq	Phase_I	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		4	683	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	84					A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.250C>T	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915608	0.92178	.	.	ENSG00000145863	ENST00000274545;ENST00000517823	T;T	0.80566	-1.39;-1.39	5.65	5.65	0.86999	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.93103	0.7804	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94213	0.7460	10	0.87932	D	0	.	20.0965	0.97849	0.0:1.0:0.0:0.0	.	84	Q16445	GBRA6_HUMAN	C	84;31	ENSP00000274545:R84C;ENSP00000430212:R31C	ENSP00000274545:R84C	R	+	1	0	GABRA6	161048557	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.843000	0.69424	2.824000	0.97209	0.655000	0.94253	CGC		0.408	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2	0			5:161115979
ARHGEF17	9828	broad.mit.edu	37	11	73020596	73020596	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:73020596G>C	ENST00000263674.3	+	1	1263	c.913G>C	c.(913-915)Gac>Cac	p.D305H	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	305					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						ATTGGATCAGGACTGCAGGCC	0.632																																						ENST00000263674.3		NA																	0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(913-915)Gac>Cac		Rho guanine nucleotide exchange factor (GEF) 17							39.0	49.0	45.0					11																	73020596		2199	4291	6490	SO:0001583	missense	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73020596G>C	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.913G>C	11.37:g.73020596G>C	ENSP00000263674:p.Asp305His	False	False		Somatic	0					p.D305H	NM_014786.3	NP_055601.2	WXS	Illumina HiSeq	Phase_I	Q96PE2	ARHGH_HUMAN			1	1263	+			305					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.913G>C	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	G	9.597	1.127584	0.20959	.	.	ENSG00000110237	ENST00000263674	T	0.59083	0.29	4.48	2.59	0.31030	.	0.431022	0.17191	N	0.183499	T	0.37812	0.1017	N	0.19112	0.55	0.09310	N	1	B	0.25169	0.119	B	0.26517	0.07	T	0.19679	-1.0298	10	0.29301	T	0.29	-5.789	6.67	0.23064	0.3027:0.0:0.6973:0.0	.	305	Q96PE2	ARHGH_HUMAN	H	305	ENSP00000263674:D305H	ENSP00000263674:D305H	D	+	1	0	ARHGEF17	72698244	0.179000	0.23135	0.263000	0.24496	0.767000	0.43475	2.280000	0.43443	0.353000	0.24079	0.313000	0.20887	GAC		0.632	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	0	NM_014786		11:73020596
DPY19L1	23333	broad.mit.edu	37	7	35051041	35051041	+	Missense_Mutation	SNP	G	G	A	rs181181617		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:35051041G>A	ENST00000310974.4	-	5	496	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	118						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						GTATAAATCCGGTACCAACTG	0.338																																						ENST00000310974.4		NA																	0				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						c.(352-354)Cgg>Tgg		dpy-19-like 1 (C. elegans)							62.0	56.0	58.0					7																	35051041		1808	4071	5879	SO:0001583	missense	23333					integral to membrane		g.chr7:35051041G>A	AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.352C>T	7.37:g.35051041G>A	ENSP00000308695:p.Arg118Trp	False	False		Somatic	0					p.R118W	NM_015283.1	NP_056098.1	WXS	Illumina HiSeq	Phase_I	Q2PZI1	D19L1_HUMAN			5	496	-			118					O94954|Q4G151	Missense_Mutation	SNP	ENST00000310974.4	37	c.352C>T	CCDS43567.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	G	19.60	3.858108	0.71834	.	.	ENSG00000173852	ENST00000310974	T	0.59906	0.23	5.39	-1.38	0.09027	.	0.000000	0.85682	D	0.000000	T	0.74137	0.3677	M	0.86953	2.85	0.58432	D	0.99999	D	0.89917	1.0	D	0.87578	0.998	T	0.73084	-0.4094	10	0.72032	D	0.01	-13.9762	10.4745	0.44657	0.0641:0.0:0.3509:0.585	.	118	Q2PZI1	D19L1_HUMAN	W	118	ENSP00000308695:R118W	ENSP00000308695:R118W	R	-	1	2	DPY19L1	35017566	1.000000	0.71417	0.831000	0.32960	0.937000	0.57800	0.946000	0.29069	-0.646000	0.05452	-0.128000	0.14901	CGG		0.338	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337506.1	0			7:35051041
MTMR3	8897	broad.mit.edu	37	22	30398961	30398961	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr22:30398961G>A	ENST00000401950.2	+	9	992	c.650G>A	c.(649-651)cGc>cAc	p.R217H	MTMR3_ENST00000333027.3_Missense_Mutation_p.R217H|MTMR3_ENST00000323630.5_Missense_Mutation_p.R81H|MTMR3_ENST00000351488.3_Missense_Mutation_p.R217H|MTMR3_ENST00000406629.1_Missense_Mutation_p.R217H	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	217	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TCCTGGAAGCGCATCCCTGCC	0.512																																						ENST00000333027.3		NA																	0				breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17						c.(649-651)cGc>cAc		myotubularin related protein 3							93.0	83.0	86.0					22																	30398961		2203	4300	6503	SO:0001583	missense	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30398961G>A	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.650G>A	22.37:g.30398961G>A	ENSP00000384651:p.Arg217His	False	False		Somatic	0				MTMR3_ENST00000401950.2_Missense_Mutation_p.R217H|MTMR3_ENST00000351488.3_Missense_Mutation_p.R217H|MTMR3_ENST00000323630.5_Missense_Mutation_p.R81H|MTMR3_ENST00000406629.1_Missense_Mutation_p.R217H	p.R217H	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	WXS	Illumina HiSeq	Phase_I	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		9	978	+			217			Myotubularin phosphatase.		A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	ENST00000401950.2	37	c.650G>A	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	G	35	5.494406	0.96339	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	D;D;D;D;D	0.98164	-4.76;-4.76;-4.76;-4.76;-4.76	5.55	5.55	0.83447	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.000000	0.85682	D	0.000000	D	0.99321	0.9762	H	0.95645	3.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98871	1.0766	10	0.87932	D	0	.	18.5002	0.90878	0.0:0.0:1.0:0.0	.	217;217;217	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	H	217;217;81;217;217	ENSP00000384651:R217H;ENSP00000331649:R217H;ENSP00000318070:R81H;ENSP00000307271:R217H;ENSP00000384077:R217H	ENSP00000318070:R81H	R	+	2	0	MTMR3	28728961	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.397000	0.97276	2.624000	0.88883	0.467000	0.42956	CGC		0.512	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	0	NM_021090		22:30398961
CYLD	1540	broad.mit.edu	37	16	50813757	50813757	+	Silent	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr16:50813757G>A	ENST00000427738.3	+	8	1525	c.1320G>A	c.(1318-1320)ctG>ctA	p.L440L	CYLD_ENST00000398568.2_Silent_p.L437L|CYLD_ENST00000568704.2_Intron|CYLD_ENST00000569418.1_Silent_p.L437L|CYLD_ENST00000564326.1_Silent_p.L437L|CYLD_ENST00000540145.1_Silent_p.L440L|CYLD_ENST00000311559.9_Silent_p.L440L|CYLD_ENST00000566206.1_Silent_p.L437L			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	440	Interaction with TRAF2.|Interaction with TRIP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				CACTTTCTCTGTCAGCCCAGT	0.507			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													ENST00000540145.1		NA	yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	"""Mis, N, F, S"""	familial cylindromatosis gene			E		cylindroma	cylindroma		0				central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62						c.(1318-1320)ctG>ctA		cylindromatosis (turban tumor syndrome)							134.0	131.0	132.0					16																	50813757		1985	4173	6158	SO:0001819	synonymous_variant	1540	Multiple Trichoepithelioma, Familial;Familial Cylindromatosis	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50813757G>A	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.1320G>A	16.37:g.50813757G>A		False	False		Somatic	0				CYLD_ENST00000564326.1_Silent_p.L437L|CYLD_ENST00000568704.2_Intron|CYLD_ENST00000398568.2_Silent_p.L437L|CYLD_ENST00000427738.3_Silent_p.L440L|CYLD_ENST00000569418.1_Silent_p.L437L|CYLD_ENST00000566206.1_Silent_p.L437L|CYLD_ENST00000311559.9_Silent_p.L440L	p.L440L			WXS	Illumina HiSeq	Phase_I	Q9NQC7	CYLD_HUMAN			9	1735	+		all_cancers(37;0.0156)	440			Interaction with TRAF2.|Interaction with TRIP.		O94934|Q7L3N6|Q96EH0|Q9NZX9	Silent	SNP	ENST00000427738.3	37	c.1320G>A	CCDS45482.1																																																																																				0.507	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2	0			16:50813757
OR1C1	26188	broad.mit.edu	37	1	247920822	247920822	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr1:247920822T>C	ENST00000408896.2	-	1	1160	c.887A>G	c.(886-888)gAt>gGt	p.D296G		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	296					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CCTCTTCATATCCCTGTTCCT	0.428																																						ENST00000408896.2		NA																	0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46						c.(886-888)gAt>gGt		olfactory receptor, family 1, subfamily C, member 1							146.0	135.0	138.0					1																	247920822		1917	4142	6059	SO:0001583	missense	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247920822T>C	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.887A>G	1.37:g.247920822T>C	ENSP00000386138:p.Asp296Gly	True	False		Somatic	0					p.D296G	NM_012353.2	NP_036485.2	WXS	Illumina HiSeq	Phase_I	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	1160	-	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	296					B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Missense_Mutation	SNP	ENST00000408896.2	37	c.887A>G	CCDS41481.1	.	.	.	.	.	.	.	.	.	.	T	9.331	1.060439	0.19987	.	.	ENSG00000221888	ENST00000408896	T	0.39592	1.07	3.22	0.691	0.18045	.	.	.	.	.	T	0.59500	0.2198	M	0.70903	2.155	0.09310	N	1	D	0.89917	1.0	D	0.76071	0.987	T	0.49854	-0.8895	9	0.87932	D	0	.	9.657	0.39932	0.0:0.0:0.3383:0.6617	.	296	Q15619	OR1C1_HUMAN	G	296	ENSP00000386138:D296G	ENSP00000386138:D296G	D	-	2	0	OR1C1	245987445	0.376000	0.25098	0.048000	0.18961	0.024000	0.10985	2.018000	0.40991	0.017000	0.15025	-1.419000	0.01111	GAT		0.428	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1	0			1:247920822
MYH6	4624	broad.mit.edu	37	14	23869987	23869987	+	Silent	SNP	G	G	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr14:23869987G>C	ENST00000356287.3	-	12	1370	c.1341C>G	c.(1339-1341)acC>acG	p.T447T	MYH6_ENST00000405093.3_Silent_p.T447T			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	447	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TGGTCTCCAGGGTGGCGTTGA	0.582																																						ENST00000405093.3		NA																	0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(1339-1341)acC>acG		myosin, heavy chain 6, cardiac muscle, alpha							134.0	106.0	116.0					14																	23869987		2203	4300	6503	SO:0001819	synonymous_variant	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23869987G>C	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.1341C>G	14.37:g.23869987G>C		True	False		Somatic	0				MYH6_ENST00000356287.3_Silent_p.T447T	p.T447T	NM_002471.3	NP_002462.2	WXS	Illumina HiSeq	Phase_I	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	13	1411	-	all_cancers(95;2.54e-05)		447			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	ENST00000356287.3	37	c.1341C>G	CCDS9600.1																																																																																				0.582	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3	0			14:23869987
IL20RA	53832	broad.mit.edu	37	6	137323435	137323435	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr6:137323435C>T	ENST00000316649.5	-	7	1157	c.922G>A	c.(922-924)Gtg>Atg	p.V308M	IL20RA_ENST00000367748.1_Missense_Mutation_p.V197M|IL20RA_ENST00000541547.1_Missense_Mutation_p.V259M|IL20RA_ENST00000468393.1_5'Flank|RP11-204P2.3_ENST00000458017.1_RNA	NM_001278722.1|NM_014432.2	NP_001265651.1|NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	308					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of bone resorption (GO:0045124)	integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		AAGTTAATCACGATTTTTTCA	0.318																																						ENST00000367748.1		NA																	0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(589-591)Gtg>Atg		interleukin 20 receptor, alpha							39.0	44.0	42.0					6																	137323435		2203	4296	6499	SO:0001583	missense	53832					integral to membrane	receptor activity	g.chr6:137323435C>T	AF184971	CCDS5181.1, CCDS64535.1, CCDS64536.1	6q23.3	2008-02-05			ENSG00000016402	ENSG00000016402		"""Interleukins and interleukin receptors"""	6003	protein-coding gene	gene with protein product		605620				10875937, 11163236	Standard	NM_001278724		Approved	ZCYTOR7, IL-20R1	uc003qhj.3	Q9UHF4	OTTHUMG00000015654	ENST00000316649.5:c.922G>A	6.37:g.137323435C>T	ENSP00000314976:p.Val308Met	False	False		Somatic	0				IL20RA_ENST00000316649.5_Missense_Mutation_p.V308M|IL20RA_ENST00000541547.1_Missense_Mutation_p.V259M	p.V197M	NM_001278723.1	NP_001265652.1	WXS	Illumina HiSeq	Phase_I	Q9UHF4	I20RA_HUMAN		GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)	6	1175	-	Colorectal(23;0.24)		308			Fibronectin type-III 2.		B4DLR5|F5H675|Q14CW2|Q6UWA9|Q96SH8	Missense_Mutation	SNP	ENST00000316649.5	37	c.589G>A	CCDS5181.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.473496	0.26423	.	.	ENSG00000016402	ENST00000316649;ENST00000367748;ENST00000541547	T;T;T	0.62364	0.29;1.74;0.03	5.79	-1.79	0.07932	.	0.528864	0.18758	N	0.131980	T	0.26122	0.0637	L	0.56769	1.78	0.09310	N	1	P;P	0.40230	0.708;0.669	B;B	0.28305	0.088;0.046	T	0.15292	-1.0442	10	0.46703	T	0.11	-2.8981	6.3867	0.21563	0.0:0.478:0.1229:0.3991	.	197;308	Q9UHF4-2;Q9UHF4	.;I20RA_HUMAN	M	308;197;259	ENSP00000314976:V308M;ENSP00000356722:V197M;ENSP00000437843:V259M	ENSP00000314976:V308M	V	-	1	0	IL20RA	137365128	0.845000	0.29573	0.013000	0.15412	0.940000	0.58332	0.935000	0.28924	-0.331000	0.08501	-0.777000	0.03380	GTG		0.318	IL20RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042393.1	0	NM_014432		6:137323435
CKM	1158	broad.mit.edu	37	19	45818781	45818781	+	Silent	SNP	C	C	T	rs376033705		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr19:45818781C>T	ENST00000221476.3	-	4	597	c.423G>A	c.(421-423)acG>acA	p.T141T		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	141	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|phosphocreatine biosynthetic process (GO:0046314)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	GTGGGGGCAACGTGTAGCCCT	0.682																																						ENST00000221476.3		NA																	0				cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17						c.(421-423)acG>acA		creatine kinase, muscle	Creatine(DB00148)	C		0,4406		0,0,2203	42.0	41.0	41.0		423	-6.6	0.9	19		41	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	CKM	NM_001824.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		141/382	45818781	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	1158				creatine metabolic process	cytosol	ATP binding|creatine kinase activity	g.chr19:45818781C>T	M14780	CCDS12659.1	19q13.32	2012-10-02			ENSG00000104879	ENSG00000104879	2.7.3.2		1994	protein-coding gene	gene with protein product		123310		CKMM			Standard	NM_001824		Approved		uc002pbd.4	P06732		ENST00000221476.3:c.423G>A	19.37:g.45818781C>T		False	False		Somatic	0					p.T141T	NM_001824.4	NP_001815.2	WXS	Illumina HiSeq	Phase_I	P06732	KCRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	4	597	-		Ovarian(192;0.0336)|all_neural(266;0.112)	141			Phosphagen kinase C-terminal.		Q96QL9	Silent	SNP	ENST00000221476.3	37	c.423G>A	CCDS12659.1																																																																																				0.682	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457569.1	0			19:45818781
ARHGAP31	57514	broad.mit.edu	37	3	119121128	119121128	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr3:119121128G>C	ENST00000264245.4	+	10	2061	c.1529G>C	c.(1528-1530)aGa>aCa	p.R510T		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	510					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						ACGCCGTGCAGAACACCCCCG	0.592																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4		NA																	0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						c.(1528-1530)aGa>aCa		Rho GTPase activating protein 31							47.0	53.0	51.0					3																	119121128		2047	4198	6245	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119121128G>C		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.1529G>C	3.37:g.119121128G>C	ENSP00000264245:p.Arg510Thr	False	False		Somatic	0					p.R510T	NM_020754.2	NP_065805.2	WXS	Illumina HiSeq	Phase_I	Q2M1Z3	RHG31_HUMAN			10	2061	+			510					Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.1529G>C	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904142	0.92035	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.18657	2.2	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000002	T	0.45538	0.1347	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.16512	-1.0400	10	0.42905	T	0.14	.	18.1871	0.89796	0.0:0.0:1.0:0.0	.	510	Q2M1Z3	RHG31_HUMAN	T	510	ENSP00000264245:R510T	ENSP00000264245:R510T	R	+	2	0	ARHGAP31	120603818	1.000000	0.71417	0.874000	0.34290	0.996000	0.88848	9.263000	0.95617	2.774000	0.95407	0.655000	0.94253	AGA		0.592	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2	0			3:119121128
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_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
KRT38	8687	broad.mit.edu	37	17	39596736	39596736	+	Silent	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr17:39596736G>A	ENST00000246646.3	-	1	437	c.438C>T	c.(436-438)acC>acT	p.T146T		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	146	Linker 1.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				CGGGGCACACGGTGGACTCGT	0.612																																						ENST00000246646.3		NA																	0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29						c.(436-438)acC>acT		keratin 38							122.0	103.0	109.0					17																	39596736		2203	4300	6503	SO:0001819	synonymous_variant	8687					intermediate filament	structural molecule activity	g.chr17:39596736G>A	Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6456	protein-coding gene	gene with protein product		604542	"""keratin, hair, acidic, 8"""	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.438C>T	17.37:g.39596736G>A		False	False		Somatic	0					p.T146T	NM_006771.3	NP_006762.3	WXS	Illumina HiSeq	Phase_I	O76015	KRT38_HUMAN			1	437	-		Breast(137;0.000496)	146			Linker 1.|Rod.		A2RRM5|Q6A164	Silent	SNP	ENST00000246646.3	37	c.438C>T	CCDS11392.1																																																																																				0.612	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	0	NM_006771		17:39596736
POLA1	5422	broad.mit.edu	37	X	24839663	24839663	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chrX:24839663T>C	ENST00000379059.3	+	31	3521	c.3506T>C	c.(3505-3507)gTg>gCg	p.V1169A	POLA1_ENST00000379068.3_Missense_Mutation_p.V1175A	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	1169					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	GGCAGAAAGGTGAAAGCTGGA	0.393																																						ENST00000379068.3		NA																	0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11						c.(3523-3525)gTg>gCg		polymerase (DNA directed), alpha 1, catalytic subunit	Clofarabine(DB00631)|Fludarabine(DB01073)						92.0	77.0	82.0					X																	24839663		2203	4300	6503	SO:0001583	missense	5422				cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding	g.chrX:24839663T>C		CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.3506T>C	X.37:g.24839663T>C	ENSP00000368349:p.Val1169Ala	False	False		Somatic	0				POLA1_ENST00000379059.3_Missense_Mutation_p.V1169A	p.V1175A			WXS	Illumina HiSeq	Phase_I	P09884	DPOLA_HUMAN			31	3567	+			1169					Q86UQ7	Missense_Mutation	SNP	ENST00000379059.3	37	c.3524T>C	CCDS14214.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.184335	0.57800	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	T;T	0.17528	2.27;2.27	4.9	4.9	0.64082	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.246861	0.40302	N	0.001126	T	0.26268	0.0641	M	0.69823	2.125	0.58432	D	0.999998	P	0.37207	0.587	B	0.43754	0.43	T	0.03240	-1.1057	10	0.21540	T	0.41	-0.1434	13.7335	0.62804	0.0:0.0:0.0:1.0	.	1169	P09884	DPOLA_HUMAN	A	1175;1169	ENSP00000368358:V1175A;ENSP00000368349:V1169A	ENSP00000368349:V1169A	V	+	2	0	POLA1	24749584	1.000000	0.71417	0.984000	0.44739	0.989000	0.77384	7.463000	0.80869	1.816000	0.52996	0.441000	0.28932	GTG		0.393	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	0	NM_016937		X:24839663
TRIM42	287015	broad.mit.edu	37	3	140397360	140397360	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr3:140397360C>T	ENST00000286349.3	+	1	480	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	97						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCGCTGCTGCCGCAATACCAT	0.542																																						ENST00000286349.3		NA																	0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(289-291)Cgc>Tgc		tripartite motif containing 42							45.0	41.0	42.0					3																	140397360		2194	4272	6466	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140397360C>T	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.289C>T	3.37:g.140397360C>T	ENSP00000286349:p.Arg97Cys	False	False		Somatic	0					p.R97C	NM_152616.4	NP_689829.3	WXS	Illumina HiSeq	Phase_I	Q8IWZ5	TRI42_HUMAN			1	480	+			97					A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.289C>T	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768237	0.49680	.	.	ENSG00000155890	ENST00000286349	T	0.18810	2.19	5.15	2.12	0.27331	.	0.000000	0.48767	D	0.000162	T	0.16981	0.0408	N	0.14661	0.345	0.42892	D	0.994201	D	0.76494	0.999	P	0.54924	0.764	T	0.04053	-1.0981	10	0.66056	D	0.02	-23.7362	5.0235	0.14372	0.3777:0.5241:0.0:0.0982	.	97	Q8IWZ5	TRI42_HUMAN	C	97	ENSP00000286349:R97C	ENSP00000286349:R97C	R	+	1	0	TRIM42	141880050	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	1.466000	0.35310	1.262000	0.44165	0.655000	0.94253	CGC		0.542	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	0	NM_152616		3:140397360
GTF3C1	2975	broad.mit.edu	37	16	27544625	27544625	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr16:27544625A>C	ENST00000356183.4	-	5	851	c.836T>G	c.(835-837)cTg>cGg	p.L279R	GTF3C1_ENST00000561623.1_Missense_Mutation_p.L279R	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	279					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CTCTTCCCTCAGCTTTCCCAG	0.552																																						ENST00000356183.4		NA																	0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(835-837)cTg>cGg		general transcription factor IIIC, polypeptide 1, alpha 220kDa							125.0	110.0	115.0					16																	27544625		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27544625A>C	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.836T>G	16.37:g.27544625A>C	ENSP00000348510:p.Leu279Arg	False	False		Somatic	0				GTF3C1_ENST00000561623.1_Missense_Mutation_p.L279R	p.L279R	NM_001520.3	NP_001511.2	WXS	Illumina HiSeq	Phase_I	Q12789	TF3C1_HUMAN			5	851	-			279					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.836T>G	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.454282	0.84209	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.28069	1.63	5.96	5.96	0.96718	.	0.082944	0.49305	D	0.000153	T	0.45296	0.1335	L	0.29908	0.895	0.48632	D	0.999681	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.981	T	0.43956	-0.9359	10	0.87932	D	0	-3.0653	16.1077	0.81236	1.0:0.0:0.0:0.0	.	279;279	Q12789;Q12789-3	TF3C1_HUMAN;.	R	279;277	ENSP00000348510:L279R	ENSP00000348510:L279R	L	-	2	0	GTF3C1	27452126	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	7.664000	0.83830	2.285000	0.76669	0.528000	0.53228	CTG		0.552	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	0	NM_001520		16:27544625
ANK3	288	broad.mit.edu	37	10	61833923	61833923	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr10:61833923C>T	ENST00000280772.2	-	37	6907	c.6716G>A	c.(6715-6717)cGt>cAt	p.R2239H	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2239					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTCTTTAACACGCATGCCTTT	0.413																																						ENST00000280772.2		NA																	0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(6715-6717)cGt>cAt		ankyrin 3, node of Ranvier (ankyrin G)							210.0	196.0	201.0					10																	61833923		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61833923C>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.6716G>A	10.37:g.61833923C>T	ENSP00000280772:p.Arg2239His	False	False		Somatic	0				ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	p.R2239H	NM_020987.3	NP_066267.2	WXS	Illumina HiSeq	Phase_I	Q12955	ANK3_HUMAN			37	6907	-			NA					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.6716G>A	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804751	0.70682	.	.	ENSG00000151150	ENST00000280772	T	0.67523	-0.27	6.05	6.05	0.98169	.	0.000000	0.42420	D	0.000701	T	0.64000	0.2559	L	0.56769	1.78	0.80722	D	1	P	0.52577	0.954	B	0.36666	0.23	T	0.69262	-0.5191	10	0.54805	T	0.06	.	20.6032	0.99464	0.0:1.0:0.0:0.0	.	2239	Q12955	ANK3_HUMAN	H	2239	ENSP00000280772:R2239H	ENSP00000280772:R2239H	R	-	2	0	ANK3	61503929	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.811000	0.86092	2.875000	0.98604	0.643000	0.83706	CGT		0.413	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	0	NM_020987		10:61833923
FRG1	2483	broad.mit.edu	37	4	190878627	190878627	+	Silent	SNP	T	T	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr4:190878627T>C	ENST00000226798.4	+	6	729	c.507T>C	c.(505-507)agT>agC	p.S169S	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	169					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		AAGCAAAAAGTAAAACAGCAG	0.358																																						ENST00000226798.4		NA																	0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(505-507)agT>agC		FSHD region gene 1							49.0	46.0	47.0					4																	190878627		2184	4282	6466	SO:0001819	synonymous_variant	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190878627T>C	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.507T>C	4.37:g.190878627T>C		True	False		Somatic	0				FRG1_ENST00000514482.1_3'UTR	p.S169S	NM_004477.2	NP_004468.1	WXS	Illumina HiSeq	Phase_I	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	6	729	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	169					A8K775	Silent	SNP	ENST00000226798.4	37	c.507T>C	CCDS34121.1																																																																																				0.358	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	0	NM_004477		4:190878627
TP53	7157	broad.mit.edu	37	17	7577517	7577517	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr17:7577517A>G	ENST00000269305.4	-	7	953	c.764T>C	c.(763-765)aTc>aCc	p.I255T	TP53_ENST00000359597.4_Missense_Mutation_p.I255T|TP53_ENST00000455263.2_Missense_Mutation_p.I255T|TP53_ENST00000445888.2_Missense_Mutation_p.I255T|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.I255T|TP53_ENST00000413465.2_Missense_Mutation_p.I255T	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	255	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> M (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.I255S(10)|p.0?(8)|p.I255T(7)|p.I255del(7)|p.I255N(7)|p.I255fs*8(1)|p.?(1)|p.I254fs*7(1)|p.I254_T256del(1)|p.R249_T256delRPILTIIT(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCCAGTGTGATGATGGTGAG	0.582		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		44	Substitution - Missense(24)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(2)|Unknown(1)	p.I255S(10)|p.0?(8)|p.I255T(7)|p.I255del(7)|p.I255N(7)|p.I255fs*8(1)|p.?(1)|p.I254fs*7(1)|p.I254_T256del(1)|p.R249_T256delRPILTIIT(1)	breast(10)|pancreas(6)|ovary(4)|bone(4)|upper_aerodigestive_tract(3)|large_intestine(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|oesophagus(2)|lung(2)|thyroid(1)|stomach(1)|liver(1)|endometrium(1)|skin(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(763-765)aTc>aCc	Other conserved DNA damage response genes	tumor protein p53							145.0	104.0	118.0					17																	7577517		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577517A>G	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.764T>C	17.37:g.7577517A>G	ENSP00000269305:p.Ile255Thr	False	False	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	Somatic	0				TP53_ENST00000413465.2_Missense_Mutation_p.I255T|TP53_ENST00000455263.2_Missense_Mutation_p.I255T|TP53_ENST00000269305.4_Missense_Mutation_p.I255T|TP53_ENST00000445888.2_Missense_Mutation_p.I255T|TP53_ENST00000359597.4_Missense_Mutation_p.I255T	p.I255T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina HiSeq	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	896	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	255		I -> F (in sporadic cancers; somatic mutation).|I -> M (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.764T>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	16.48	3.136463	0.56936	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99812	-6.88;-6.88;-6.88;-6.88;-6.88;-6.88;-6.88	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.058771	0.64402	D	0.000004	D	0.99704	0.9887	M	0.82630	2.6	0.58432	D	0.999994	D;D;D;D;D	0.89917	0.999;0.981;0.998;0.999;1.0	D;P;D;D;D	0.87578	0.995;0.901;0.992;0.998;0.997	D	0.97329	0.9949	10	0.87932	D	0	-21.9257	12.3101	0.54924	1.0:0.0:0.0:0.0	.	255;255;255;255;255	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	T	255;255;255;255;255;255;244;123	ENSP00000410739:I255T;ENSP00000352610:I255T;ENSP00000269305:I255T;ENSP00000398846:I255T;ENSP00000391127:I255T;ENSP00000391478:I255T;ENSP00000425104:I123T	ENSP00000269305:I255T	I	-	2	0	TP53	7518242	1.000000	0.71417	0.998000	0.56505	0.393000	0.30537	9.087000	0.94110	2.074000	0.62210	0.379000	0.24179	ATC		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7577517
TMEM200C	645369	broad.mit.edu	37	18	5892008	5892008	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr18:5892008G>A	ENST00000581347.2	-	3	700	c.55C>T	c.(55-57)Cgc>Tgc	p.R19C	RP11-945C19.4_ENST00000577694.1_RNA|RP11-945C19.4_ENST00000582939.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.R19C|RP11-945C19.4_ENST00000580845.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	19						integral component of membrane (GO:0016021)		p.R19S(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						CTTGGGGGGCGGAGTGGATCC	0.607																																						ENST00000581347.2		NA																	1	Substitution - Missense(1)	p.R19S(1)	stomach(1)	autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						c.(55-57)Cgc>Tgc		transmembrane protein 200C							62.0	66.0	65.0					18																	5892008		2058	4208	6266	SO:0001583	missense	645369					integral to membrane		g.chr18:5892008G>A		CCDS45825.1	18p11.31	2009-09-08			ENSG00000206432	ENSG00000206432			37208	protein-coding gene	gene with protein product						15722956	Standard	NM_001080209		Approved	TTMA	uc002kmx.1	A6NKL6		ENST00000581347.2:c.55C>T	18.37:g.5892008G>A	ENSP00000463375:p.Arg19Cys	False	False		Somatic	0				RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.R19C	p.R19C			WXS	Illumina HiSeq	Phase_I	A6NKL6	T200C_HUMAN			3	700	-			NA						Missense_Mutation	SNP	ENST00000581347.2	37	c.55C>T	CCDS45825.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.361603	0.61403	.	.	ENSG00000206432	ENST00000383490	.	.	.	4.3	4.3	0.51218	.	0.061497	0.64402	D	0.000004	T	0.74854	0.3771	M	0.65498	2.005	0.49130	D	0.99975	D	0.89917	1.0	D	0.70935	0.971	T	0.77629	-0.2516	9	0.87932	D	0	-9.4438	12.267	0.54684	0.0:0.0:0.6997:0.3003	.	19	A6NKL6	T200C_HUMAN	C	19	.	ENSP00000372982:R19C	R	-	1	0	TMEM200C	5882008	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	2.903000	0.48711	2.376000	0.81061	0.557000	0.71058	CGC		0.607	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441917.4	0	NM_001080209		18:5892008
MATN4	8785	broad.mit.edu	37	20	43933094	43933094	+	Silent	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr20:43933094C>T	ENST00000372754.1	-	2	425	c.417G>A	c.(415-417)ccG>ccA	p.P139P	MATN4_ENST00000372751.4_Intron|MATN4_ENST00000353917.5_Silent_p.P139P|MATN4_ENST00000537548.1_Silent_p.P139P|MATN4_ENST00000360607.6_Silent_p.P139P|MATN4_ENST00000372756.1_Silent_p.P139P|RBPJL_ENST00000372741.3_5'Flank|RBPJL_ENST00000372743.1_5'Flank|MATN4_ENST00000342716.4_Silent_p.P139P|RBPJL_ENST00000343694.3_5'Flank			O95460	MATN4_HUMAN	matrilin 4	139	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CAGCGACACGCGGCACGCGCT	0.701																																						ENST00000537548.1		NA																	0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(415-417)ccG>ccA		matrilin 4							8.0	8.0	8.0					20																	43933094		2125	4135	6260	SO:0001819	synonymous_variant	8785					extracellular region	protein binding	g.chr20:43933094C>T	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.417G>A	20.37:g.43933094C>T		False	False		Somatic	0				MATN4_ENST00000372754.1_Silent_p.P139P|MATN4_ENST00000360607.6_Silent_p.P139P|MATN4_ENST00000372756.1_Silent_p.P139P|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000342716.4_Silent_p.P139P|MATN4_ENST00000353917.5_Silent_p.P139P	p.P139P			WXS	Illumina HiSeq	Phase_I	O95460	MATN4_HUMAN			4	661	-		Myeloproliferative disorder(115;0.0122)	139			VWFA 1.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Silent	SNP	ENST00000372754.1	37	c.417G>A																																																																																					0.701	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1	0			20:43933094
KLHL28	54813	broad.mit.edu	37	14	45398354	45398354	+	Silent	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr14:45398354G>A	ENST00000396128.4	-	5	1712	c.1593C>T	c.(1591-1593)gtC>gtT	p.V531V	KLHL28_ENST00000355081.2_Silent_p.V545V	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	531										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AGTGACCACCGACGACATAAA	0.423																																						ENST00000396128.4		NA																	0				breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1591-1593)gtC>gtT		kelch-like family member 28							139.0	118.0	125.0					14																	45398354		2203	4300	6503	SO:0001819	synonymous_variant	54813							g.chr14:45398354G>A	AK000088	CCDS9680.1	14q21.1	2013-02-22	2013-02-22	2007-01-09	ENSG00000179454	ENSG00000179454		"""Kelch-like"", ""BTB/POZ domain containing"""	19741	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 5"", ""kelch-like 28 (Drosophila)"""	BTBD5			Standard	NM_017658		Approved	FLJ20081	uc001wvr.3	Q9NXS3	OTTHUMG00000140263	ENST00000396128.4:c.1593C>T	14.37:g.45398354G>A		False	False		Somatic	0				KLHL28_ENST00000355081.2_Silent_p.V545V	p.V531V	NM_017658.3	NP_060128.2	WXS	Illumina HiSeq	Phase_I	Q9NXS3	KLH28_HUMAN			5	1712	-			531					Q0VAL5	Silent	SNP	ENST00000396128.4	37	c.1593C>T	CCDS9680.1																																																																																				0.423	KLHL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276790.3	0			14:45398354
PXT1	222659	broad.mit.edu	37	6	36368236	36368236	+	Nonsense_Mutation	SNP	G	G	A	rs183075818		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr6:36368236G>A	ENST00000454782.2	-	4	778	c.295C>T	c.(295-297)Cga>Tga	p.R99*		NM_152990.3	NP_694535.2	Q8NFP0	PXT1_HUMAN	peroxisomal, testis specific 1	99					positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|peroxisome (GO:0005777)											CTCACCTCTCGAACCATCCTA	0.493													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19453	0.0		0.0	False		,,,				2504	0.0					ENST00000454782.2		NA																	0					NA						c.(295-297)Cga>Tga		peroxisomal, testis specific 1							237.0	191.0	207.0					6																	36368236		2203	4300	6503	SO:0001587	stop_gained	222659					peroxisome		g.chr6:36368236G>A	AF486827	CCDS4820.2	6p21.31	2004-04-30			ENSG00000179165	ENSG00000179165			18312	protein-coding gene	gene with protein product							Standard	NM_152990		Approved	STEPP	uc003omd.2	Q8NFP0	OTTHUMG00000159815	ENST00000454782.2:c.295C>T	6.37:g.36368236G>A	ENSP00000419944:p.Arg99*	False	False		Somatic	0					p.R99*	NM_152990.3	NP_694535.2	WXS	Illumina HiSeq	Phase_I	Q8NFP0	PXT1_HUMAN			4	778	-			16					J3KR74	Nonsense_Mutation	SNP	ENST00000454782.2	37	c.295C>T	CCDS4820.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	39	7.886637	0.98542	.	.	ENSG00000179165	ENST00000454782;ENST00000538109	.	.	.	4.9	4.01	0.46588	.	0.919982	0.08824	N	0.888375	.	.	.	.	.	.	0.49915	D	0.999834	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.0883	10.898	0.47034	0.0:0.1901:0.8099:0.0	.	.	.	.	X	99;16	.	ENSP00000419944:R99X	R	-	1	2	PXT1	36476214	0.069000	0.21087	0.259000	0.24435	0.603000	0.37013	1.193000	0.32162	1.250000	0.43966	0.555000	0.69702	CGA		0.493	PXT1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000357516.2	0	NM_152990		6:36368236
TMEM30A	55754	broad.mit.edu	37	6	75965841	75965841	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr6:75965841T>C	ENST00000230461.6	-	7	1392	c.1063A>G	c.(1063-1065)Aat>Gat	p.N355D	TMEM30A_ENST00000370050.5_Missense_Mutation_p.N236D|TMEM30A_ENST00000475111.2_Missense_Mutation_p.N319D	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	355					drug transmembrane transport (GO:0006855)|phospholipid translocation (GO:0045332)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endosome (GO:0036010)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCAGCTGTATTACTACTGTTT	0.358																																						ENST00000230461.6		NA																	0				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1063-1065)Aat>Gat		transmembrane protein 30A							68.0	69.0	69.0					6																	75965841		2203	4299	6502	SO:0001583	missense	55754					integral to membrane		g.chr6:75965841T>C	AK001718	CCDS4983.1, CCDS47453.1	6q14.1	2014-01-28	2004-06-17	2004-06-18	ENSG00000112697	ENSG00000112697			16667	protein-coding gene	gene with protein product		611028	"""chromosome 6 open reading frame 67"""	C6orf67		15375526	Standard	NM_001143958		Approved	FLJ10856, CDC50A	uc003phw.2	Q9NV96	OTTHUMG00000015050	ENST00000230461.6:c.1063A>G	6.37:g.75965841T>C	ENSP00000230461:p.Asn355Asp	False	False		Somatic	0				TMEM30A_ENST00000370050.5_Missense_Mutation_p.N236D|TMEM30A_ENST00000475111.2_Missense_Mutation_p.N319D	p.N355D	NM_018247.3	NP_060717.1	WXS	Illumina HiSeq	Phase_I	Q9NV96	CC50A_HUMAN			7	1392	-			355					A8K9V8|E1P539|Q658Z3|Q96H09|Q9NSL9	Missense_Mutation	SNP	ENST00000230461.6	37	c.1063A>G	CCDS4983.1	.	.	.	.	.	.	.	.	.	.	T	17.99	3.523412	0.64747	.	.	ENSG00000112697	ENST00000230461;ENST00000545449;ENST00000370050;ENST00000475111	.	.	.	5.77	5.77	0.91146	.	0.082960	0.85682	D	0.000000	T	0.34135	0.0887	L	0.45228	1.405	0.50171	D	0.999851	B;B	0.09022	0.002;0.002	B;B	0.17433	0.006;0.018	T	0.36578	-0.9742	9	0.05525	T	0.97	.	16.0847	0.81038	0.0:0.0:0.0:1.0	.	319;355	Q9NV96-2;Q9NV96	.;CC50A_HUMAN	D	355;339;236;319	.	ENSP00000230461:N355D	N	-	1	0	TMEM30A	76022561	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.202000	0.70862	0.528000	0.53228	AAT		0.358	TMEM30A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041248.2	0	NM_018247		6:75965841
MYH14	79784	broad.mit.edu	37	19	50812427	50812427	+	Missense_Mutation	SNP	C	C	T	rs369147236		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr19:50812427C>T	ENST00000596571.1	+	39	5830	c.5830C>T	c.(5830-5832)Cgg>Tgg	p.R1944W	MYH14_ENST00000440075.2_Missense_Mutation_p.R1985W|MYH14_ENST00000262269.8_Missense_Mutation_p.R1985W|MYH14_ENST00000425460.1_Missense_Mutation_p.R1952W|MYH14_ENST00000376970.2_Missense_Mutation_p.R1977W|MYH14_ENST00000601313.1_Missense_Mutation_p.R1985W|MYH14_ENST00000598205.1_Missense_Mutation_p.R1952W|CTB-191K22.5_ENST00000595563.1_RNA			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1944					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		ACTGAGGAACCGGCTTCGGTA	0.642																																						ENST00000440075.2		NA																	0				central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(5953-5955)Cgg>Tgg		myosin, heavy chain 14, non-muscle		C	TRP/ARG,TRP/ARG,TRP/ARG	0,4210		0,0,2105	97.0	97.0	97.0		5854,5953,5830	1.4	1.0	19		97	1,8473		0,1,4236	no	missense,missense,missense	MYH14	NM_001077186.1,NM_001145809.1,NM_024729.3	101,101,101	0,1,6341	TT,TC,CC		0.0118,0.0,0.0079	probably-damaging,probably-damaging,probably-damaging	1952/2004,1985/2037,1944/1996	50812427	1,12683	2105	4237	6342	SO:0001583	missense	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50812427C>T	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.5830C>T	19.37:g.50812427C>T	ENSP00000472819:p.Arg1944Trp	False	False		Somatic	0				MYH14_ENST00000596571.1_Missense_Mutation_p.R1944W|MYH14_ENST00000425460.1_Missense_Mutation_p.R1952W|MYH14_ENST00000262269.8_Missense_Mutation_p.R1985W|MYH14_ENST00000376970.2_Missense_Mutation_p.R1977W|MYH14_ENST00000601313.1_Missense_Mutation_p.R1985W|MYH14_ENST00000598205.1_Missense_Mutation_p.R1952W	p.R1985W			WXS	Illumina HiSeq	Phase_I	Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	42	6000	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	1944					B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	c.5953C>T	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854163	0.51270	0.0	1.18E-4	ENSG00000105357	ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	3.69	1.35	0.21983	Myosin tail (1);	.	.	.	.	D	0.83482	0.5264	L	0.58510	1.815	0.30649	N	0.755608	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.968;0.987;0.978	T	0.78743	-0.2085	9	0.87932	D	0	.	9.3434	0.38093	0.5854:0.4146:0.0:0.0	.	1985;1944;1952	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	W	1985;1977;1952;1728;1985	ENSP00000406273:R1985W;ENSP00000366169:R1977W;ENSP00000407879:R1952W;ENSP00000262269:R1985W	ENSP00000262269:R1985W	R	+	1	2	MYH14	55504239	0.000000	0.05858	1.000000	0.80357	0.770000	0.43624	-0.299000	0.08254	0.293000	0.22520	0.313000	0.20887	CGG		0.642	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	0	NM_024729		19:50812427
GLRX3	10539	broad.mit.edu	37	10	131959074	131959074	+	Silent	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr10:131959074C>T	ENST00000368644.1	+	4	313	c.291C>T	c.(289-291)atC>atT	p.I97I	GLRX3_ENST00000331244.5_Silent_p.I97I	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3	97	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|regulation of the force of heart contraction (GO:0002026)	extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	electron carrier activity (GO:0009055)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		CTCAGAAAATCGACCGATTAG	0.378																																						ENST00000368644.1		NA																	0				endometrium(1)|large_intestine(5)|lung(7)	13						c.(289-291)atC>atT		glutaredoxin 3							80.0	75.0	77.0					10																	131959074		2203	4300	6503	SO:0001819	synonymous_variant	10539				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity	g.chr10:131959074C>T	AJ010841	CCDS7661.1	10q26	2009-05-29	2007-08-16	2007-08-16	ENSG00000108010	ENSG00000108010			15987	protein-coding gene	gene with protein product	"""glutaredoxin 4"""	612754	"""thioredoxin-like 2"""	TXNL2		10636891, 11124703	Standard	NM_006541		Approved	PICOT, bA500G10.4, GRX3, GLRX4, GRX4	uc001lkm.2	O76003	OTTHUMG00000019267	ENST00000368644.1:c.291C>T	10.37:g.131959074C>T		False	False		Somatic	0				GLRX3_ENST00000331244.5_Silent_p.I97I	p.I97I	NM_001199868.1	NP_001186797.1	WXS	Illumina HiSeq	Phase_I	O76003	GLRX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00218)	4	313	+		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)	97			Thioredoxin.		B3KMP7|B3KMQ5|D3DRG2|Q5JV01|Q96CE0|Q9P1B0|Q9P1B1	Silent	SNP	ENST00000368644.1	37	c.291C>T	CCDS7661.1																																																																																				0.378	GLRX3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051021.1	0	NM_006541		10:131959074
