#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
HMX2	3167	broad.mit.edu	37	10	124908058	124908064	+	Frame_Shift_Del	DEL	AGCCGGA	AGCCGGA	-			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	AGCCGGA	AGCCGGA	-	-	AGCCGGA	AGCCGGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr10:124908058_124908064delAGCCGGA	ENST00000339992.3	+	1	421_427	c.164_170delAGCCGGA	c.(163-171)gagccggacfs	p.EPD55fs		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	55					brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		GAGGAGGAGGAGCCGGACGACGGCTGG	0.71																																						ENST00000339992.3		NA																	0				endometrium(1)|kidney(1)|lung(4)|prostate(1)	7						c.(163-171)gagccggacfs		H6 family homeobox 2																																				SO:0001589	frameshift_variant	3167				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:124908058_124908064delAGCCGGA		CCDS31305.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188816	ENSG00000188816		"""Homeoboxes / ANTP class : NKL subclass"""	5018	protein-coding gene	gene with protein product		600647	"""homeo box (H6 family) 2"""			7647458	Standard	XM_005269743		Approved	NKX5-2	uc001lhc.1	A2RU54	OTTHUMG00000019198	ENST00000339992.3:c.164_170delAGCCGGA	10.37:g.124908058_124908064delAGCCGGA	ENSP00000341108:p.Glu55fs	False	False		Somatic	1					p.EPD55fs	NM_005519.1	NP_005510.1	WXS	Illumina HiSeq	Phase_I	A2RU54	HMX2_HUMAN		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)	1	421_427	+		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)	55					B2RNV5	Frame_Shift_Del	DEL	ENST00000339992.3	37	c.164_170delAGCCGGA	CCDS31305.1																																																																																				0.710	HMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050841.1	0	XM_370580		10:124908058
OR52B6	340980	broad.mit.edu	37	11	5602663	5602667	+	Frame_Shift_Del	DEL	ACTAT	ACTAT	-			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	ACTAT	ACTAT	-	-	ACTAT	ACTAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr11:5602663_5602667delACTAT	ENST00000345043.2	+	1	557_561	c.557_561delACTAT	c.(556-561)cactatfs	p.HY186fs	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGCACCTGCACTATTGCCAGATCA	0.473																																						ENST00000345043.2		NA																	0				endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12						c.(556-561)cactatfs		olfactory receptor, family 52, subfamily B, member 6																																				SO:0001589	frameshift_variant	340980				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5602663_5602667delACTAT	AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747		"""GPCR / Class A : Olfactory receptors"""	15211	protein-coding gene	gene with protein product							Standard	NM_001005162		Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.557_561delACTAT	11.37:g.5602663_5602667delACTAT	ENSP00000341581:p.His186fs	False	False		Somatic	1				AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	p.HY186fs	NM_001005162.2	NP_001005162.2	WXS	Illumina HiSeq	Phase_I	Q8NGF0	O52B6_HUMAN		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	557_561	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	186					Q6IFI7	Frame_Shift_Del	DEL	ENST00000345043.2	37	c.557_561delACTAT	CCDS41611.1																																																																																				0.473	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143397.1	0	NM_001005162		11:5602663
RBM4	5936	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000409406.1	+	2	1633_1653	c.856_876delGCTGCTGCTGCAGCAGCAGCC	c.(856-876)gctgctgctgcagcagcagccdel	p.AAAAAAA286del	RBM4_ENST00000578778.1_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000506523.2_Intron|RBM14-RBM4_ENST00000412278.2_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000398692.4_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|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_ENST00000530235.1_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del	p.AAAAAAA261del	NM_001198845.1	NP_001185774.1	WXS	Illumina HiSeq	Phase_I					2	876_896	+			NA					B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	In_Frame_Del	DEL	ENST00000409406.1	37	c.781_801delGCTGCTGCTGCAGCAGCAGCC	CCDS41676.1																																																																																				0.615	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	0	NM_002896		11:66411364
VWA3A	146177	broad.mit.edu	37	16	22161152	22161158	+	Frame_Shift_Del	DEL	ACACGCT	ACACGCT	-	rs200724524		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	ACACGCT	ACACGCT	-	-	ACACGCT	ACACGCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr16:22161152_22161158delACACGCT	ENST00000389398.5	+	29	3125_3131	c.3029_3035delACACGCT	c.(3028-3036)gacacgctgfs	p.DTL1010fs	VWA3A_ENST00000563755.1_Frame_Shift_Del_p.DTL112fs|VWA3A_ENST00000389397.4_Frame_Shift_Del_p.DTL112fs	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	1010	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		TCATGGCAGGACACGCTGGTGGAGACC	0.546																																						ENST00000389398.5		NA																	0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						c.(3028-3036)gacacgctgfs		von Willebrand factor A domain containing 3A																																				SO:0001589	frameshift_variant	146177					extracellular region		g.chr16:22161152_22161158delACACGCT	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.3029_3035delACACGCT	16.37:g.22161152_22161158delACACGCT	ENSP00000374049:p.Asp1010fs	False	False		Somatic	1				VWA3A_ENST00000389397.4_Frame_Shift_Del_p.DTL112fs|VWA3A_ENST00000563755.1_Frame_Shift_Del_p.DTL112fs	p.DTL1010fs	NM_173615.3	NP_775886.3	WXS	Illumina HiSeq	Phase_I	A6NCI4	VWA3A_HUMAN		GBM - Glioblastoma multiforme(48;0.0439)	29	3125_3131	+			1010			VWFA 2.		A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Frame_Shift_Del	DEL	ENST00000389398.5	37	c.3029_3035delACACGCT	CCDS45441.1																																																																																				0.546	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1	0			16:22161152
AXDND1	126859	broad.mit.edu	37	1	179504035	179504040	+	In_Frame_Del	DEL	AAGAAC	AAGAAC	-	rs200097954|rs368406759|rs79330752|rs6425573	byFrequency	TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	AAGAAC	AAGAAC	-	-	AAGAAC	AAGAAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:179504035_179504040delAAGAAC	ENST00000367618.3	+	25	3356_3361	c.2969_2974delAAGAAC	c.(2968-2976)gaagaacaa>gaa	p.EQ991del		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	991	Glu-rich.		E -> Q (in dbSNP:rs6425573).					p.E991_Q992delEQ(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						aaagaagaagaagaacaacaagaaga	0.316																																						ENST00000367618.3		NA																	1	Deletion - In frame(1)	p.E991_Q992delEQ(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						c.(2968-2976)gaagaacaa>gaa		axonemal dynein light chain domain containing 1				750,3386		64,622,1382						-7.3	0.0		dbSNP_131	50	2737,5481		321,2095,1693	no	coding	AXDND1	NM_144696.4		385,2717,3075	A1A1,A1R,RR		33.3049,18.1335,28.2257				3487,8867				SO:0001651	inframe_deletion	126859							g.chr1:179504035_179504040delAAGAAC	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2969_2974delAAGAAC	1.37:g.179504035_179504040delAAGAAC	ENSP00000356590:p.Glu991_Gln992del	True	False		Somatic	1					p.EQ991del	NM_144696.4	NP_653297.3	WXS	Illumina HiSeq	Phase_I	Q5T1B0	AXDN1_HUMAN			25	3356_3361	+			991		E -> Q (in dbSNP:rs6425573).	Glu-rich.		Q6AWB2|Q96LJ3|Q96M01	In_Frame_Del	DEL	ENST00000367618.3	37	c.2969_2974delAAGAAC	CCDS30948.1																																																																																				0.316	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	0	NM_144696		1:179504035
RFX1	5989	broad.mit.edu	37	19	14083667	14083711	+	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	rs201914058|rs559806837	byFrequency	TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	-	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	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
C1QB	713	broad.mit.edu	37	1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	rs544508692|rs148813212		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	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
AK9	221264	broad.mit.edu	37	6	109850201	109850201	+	Intron	DEL	C	C	-	rs577355457|rs201441562|rs560850105|rs72613250|rs72331392	byFrequency	TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr6:109850201delC	ENST00000424296.2	-	29	3710				AK9_ENST00000341338.6_Intron|AK9_ENST00000355283.1_Frame_Shift_Del_p.V295fs	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9						ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										aaaaaaaaaacaaaaCTACTT	0.413													|||unknown(HR)	663	0.132388	0.0333	0.1167	5008	,	,		17019	0.1974		0.0964	False		,,,				2504	0.2474					ENST00000355283.1		NA																	0					NA						c.(883-885)gttfs		adenylate kinase 9							40.0	27.0	32.0					6																	109850201		2117	3722	5839	SO:0001627	intron_variant	221264							g.chr6:109850201delC	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.3633+12G>-	6.37:g.109850201delC		True	False		Somatic	1				AK9_ENST00000424296.2_Intron|AK9_ENST00000341338.6_Intron	p.V295fs			WXS	Illumina HiSeq	Phase_I					5	1129	-			NA					A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Frame_Shift_Del	DEL	ENST00000424296.2	37	c.883delG	CCDS55048.1																																																																																				0.413	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	NM_001145128		6:109850201
ZNF733P	643955	broad.mit.edu	37	7	62751956	62751957	+	RNA	INS	-	-	C			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr7:62751956_62751957insC	ENST00000331425.6	-	0	1478_1479					NR_003952.1				zinc finger protein 733, pseudogene																		CTTGAATGCCACTTAAAAGCTT	0.391																																						ENST00000331425.6		NA																	0					NA																																														0							g.chr7:62751956_62751957insC			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62751957_62751957dupC		False	False		Somatic	1						NR_003952.1		WXS	Illumina HiSeq	Phase_I					0	1478_1479	-			NA						RNA	INS	ENST00000331425.6	37																																																																																						0.391	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1	0			7:62751956
SLC4A2	6522	broad.mit.edu	37	7	150772809	150772810	+	Frame_Shift_Ins	INS	-	-	A	rs139739553	byFrequency	TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr7:150772809_150772810insA	ENST00000485713.1	+	21	4458_4459	c.3418_3419insA	c.(3418-3420)catfs	p.H1140fs	SLC4A2_ENST00000413384.2_Frame_Shift_Ins_p.H1140fs|SLC4A2_ENST00000461735.1_Frame_Shift_Ins_p.H1126fs|SLC4A2_ENST00000310317.5_Frame_Shift_Ins_p.H1058fs|SLC4A2_ENST00000392826.2_Frame_Shift_Ins_p.H1131fs|RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000489884.1_5'Flank	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	1140	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGAGCGGCTGCATCTGCTGCTC	0.599																																						ENST00000461735.1		NA																	0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(3376-3378)catfs		solute carrier family 4 (anion exchanger), member 2																																				SO:0001589	frameshift_variant	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150772809_150772810insA		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.3419dupA	7.37:g.150772810_150772810dupA	ENSP00000419412:p.His1140fs	False	False		Somatic	1				RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000413384.2_Frame_Shift_Ins_p.H1140fs|SLC4A2_ENST00000310317.5_Frame_Shift_Ins_p.H1058fs|SLC4A2_ENST00000485713.1_Frame_Shift_Ins_p.H1140fs|SLC4A2_ENST00000392826.2_Frame_Shift_Ins_p.H1131fs	p.H1126fs	NM_001199694.1	NP_001186623.1	WXS	Illumina HiSeq	Phase_I	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	20	3923_3924	+			1140			Membrane (anion exchange).		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Frame_Shift_Ins	INS	ENST00000485713.1	37	c.3376_3377insA	CCDS5917.1																																																																																				0.599	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	0	NM_003040		7:150772809
SELL	6402	broad.mit.edu	37	1	169677858	169677858	+	Nonsense_Mutation	SNP	G	G	A	rs572748773		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:169677858G>A	ENST00000236147.4	-	3	371	c.211C>T	c.(211-213)Cga>Tga	p.R71*	SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	58	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|regulation of immune response (GO:0050776)|response to ATP (GO:0033198)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|protease binding (GO:0002020)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					TAATTGTCTCGGCAGAATCTT	0.433													G|||	1	0.000199681	0.0	0.0	5008	,	,		20085	0.001		0.0	False		,,,				2504	0.0					ENST00000236147.4		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15						c.(211-213)Cga>Tga		selectin L							53.0	47.0	49.0					1																	169677858		1863	4110	5973	SO:0001587	stop_gained	6402				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding	g.chr1:169677858G>A	M25280	CCDS53427.1	1q23-q25	2008-07-31	2008-07-31		ENSG00000188404	ENSG00000188404		"""CD molecules"""	10720	protein-coding gene	gene with protein product		153240	"""lymphocyte adhesion molecule 1"""	LYAM1, LNHR		2664786, 1375831	Standard	NR_029467		Approved	LSEL, LAM1, LAM-1, hLHRc, Leu-8, Lyam-1, PLNHR, CD62L	uc001ggk.3	P14151	OTTHUMG00000034809	ENST00000236147.4:c.211C>T	1.37:g.169677858G>A	ENSP00000236147:p.Arg71*	False	False		Somatic	0				C1orf112_ENST00000498289.1_Intron|SELL_ENST00000463108.1_5'UTR	p.R71*	NM_000655.4	NP_000646.2	WXS	Illumina HiSeq	Phase_I	P14151	LYAM1_HUMAN			3	371	-	all_hematologic(923;0.208)		58			C-type lectin.		B2R6Q8|P15023|Q9UJ43	Nonsense_Mutation	SNP	ENST00000236147.4	37	c.211C>T	CCDS53427.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.223393	0.58668	.	.	ENSG00000188404	ENST00000236147	.	.	.	5.2	2.14	0.27477	.	1.276940	0.05720	N	0.597599	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-1.1421	13.8848	0.63702	0.0:0.0:0.312:0.688	.	.	.	.	X	71	.	ENSP00000236147:R71X	R	-	1	2	SELL	167944482	0.205000	0.23458	0.276000	0.24689	0.016000	0.09150	0.447000	0.21710	0.150000	0.19136	0.585000	0.79938	CGA		0.433	SELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084233.1	0	NM_000655		1:169677858
ALK	238	broad.mit.edu	37	2	29443582	29443582	+	Missense_Mutation	SNP	C	C	T	rs143790259		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr2:29443582C>T	ENST00000389048.3	-	23	4541	c.3635G>A	c.(3634-3636)cGc>cAc	p.R1212H	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1212	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R1212H(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	CGGGCGAGGGCGGGTCTCTCG	0.602			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000389048.3		NA	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	"""T, Mis, A"""	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	neuroblastoma	"""ALCL, NSCLC, Neuroblastoma"""	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	1	Substitution - Missense(1)	p.R1212H(1)	skin(1)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340						c.(3634-3636)cGc>cAc		anaplastic lymphoma receptor tyrosine kinase	Adenosine triphosphate(DB00171)						46.0	45.0	45.0					2																	29443582		2203	4300	6503	SO:0001583	missense	238	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29443582C>T	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.3635G>A	2.37:g.29443582C>T	ENSP00000373700:p.Arg1212His	True	False		Somatic	0				ALK_ENST00000431873.1_Intron	p.R1212H	NM_004304.4	NP_004295.2	WXS	Illumina HiSeq	Phase_I	Q9UM73	ALK_HUMAN			23	4541	-	Acute lymphoblastic leukemia(172;0.155)		1212			Protein kinase.		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.3635G>A	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	c	35	5.476826	0.96291	.	.	ENSG00000171094	ENST00000389048	D	0.89681	-2.55	5.59	4.71	0.59529	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.48286	U	0.000184	D	0.93835	0.8028	M	0.76727	2.345	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	D	0.93860	0.7153	9	.	.	.	.	17.0044	0.86389	0.0:0.8728:0.1272:0.0	.	1212	Q9UM73	ALK_HUMAN	H	1212	ENSP00000373700:R1212H	.	R	-	2	0	ALK	29297086	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	6.012000	0.70767	1.472000	0.48140	0.645000	0.84053	CGC		0.602	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	0	NM_004304		2:29443582
PITPNM3	83394	broad.mit.edu	37	17	6428759	6428759	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:6428759G>A	ENST00000262483.8	-	3	230	c.143C>T	c.(142-144)gCc>gTc	p.A48V	PITPNM3_ENST00000421306.3_Intron	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	48					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		AATGAGGATGGCATTCTTCCC	0.542																																						ENST00000262483.8		NA																	0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36						c.(142-144)gCc>gTc		PITPNM family member 3							207.0	148.0	168.0					17																	6428759		2203	4300	6503	SO:0001583	missense	83394				phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding	g.chr17:6428759G>A	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.143C>T	17.37:g.6428759G>A	ENSP00000262483:p.Ala48Val	False	False		Somatic	0				PITPNM3_ENST00000421306.3_Intron	p.A48V	NM_031220.3	NP_112497.2	WXS	Illumina HiSeq	Phase_I	Q9BZ71	PITM3_HUMAN		Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)	3	230	-			NA					A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	ENST00000262483.8	37	c.143C>T	CCDS11076.1	.	.	.	.	.	.	.	.	.	.	G	9.783	1.175926	0.21704	.	.	ENSG00000091622	ENST00000262483	T	0.19806	2.12	4.67	4.67	0.58626	.	0.121347	0.53938	D	0.000043	T	0.32133	0.0819	L	0.34521	1.04	0.41624	D	0.988988	D	0.89917	1.0	D	0.83275	0.996	T	0.02371	-1.1169	10	0.10636	T	0.68	.	15.866	0.79067	0.0:0.0:1.0:0.0	.	48	Q9BZ71	PITM3_HUMAN	V	48	ENSP00000262483:A48V	ENSP00000262483:A48V	A	-	2	0	PITPNM3	6369483	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.935000	0.87658	2.538000	0.85594	0.460000	0.39030	GCC		0.542	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	0	NM_031220		17:6428759
BAGE2	85319	broad.mit.edu	37	21	11098791	11098791	+	RNA	SNP	C	C	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr21:11098791C>A	ENST00000470054.1	-	0	134							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		aacactccagctgcgctgcca	0.632																																						ENST00000470054.1		NA																	0					NA								B melanoma antigen family, member 2							64.0	83.0	77.0					21																	11098791		692	1591	2283			85319							g.chr21:11098791C>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098791C>A		True	False		Somatic	0								WXS	Illumina HiSeq	Phase_I			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	134	-			NA					A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.632	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	0	NM_182482		21:11098791
EPOR	2057	broad.mit.edu	37	19	11492697	11492697	+	Silent	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr19:11492697G>A	ENST00000222139.6	-	3	440	c.336C>T	c.(334-336)gcC>gcT	p.A112A	EPOR_ENST00000592375.2_Silent_p.A112A	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	112					brain development (GO:0007420)|decidualization (GO:0046697)|erythropoietin-mediated signaling pathway (GO:0038162)|heart development (GO:0007507)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	erythropoietin receptor activity (GO:0004900)|identical protein binding (GO:0042802)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894)	TCGACGTGTCGGCTGTAGGCA	0.617																																						ENST00000592375.2		NA																	0				endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.(334-336)gcC>gcT		erythropoietin receptor	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)						57.0	51.0	53.0					19																	11492697		2203	4300	6503	SO:0001819	synonymous_variant	2057					extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding	g.chr19:11492697G>A	M34986	CCDS12260.1	19p13.3-p13.2	2013-02-11				ENSG00000187266		"""Fibronectin type III domain containing"""	3416	protein-coding gene	gene with protein product		133171					Standard	NM_000121		Approved		uc002mrj.2	P19235		ENST00000222139.6:c.336C>T	19.37:g.11492697G>A		False	False		Somatic	0				EPOR_ENST00000222139.6_Silent_p.A112A	p.A112A			WXS	Illumina HiSeq	Phase_I	P19235	EPOR_HUMAN			3	440	-			112					B2RCG4|Q15443|Q2M205	Silent	SNP	ENST00000222139.6	37	c.336C>T	CCDS12260.1																																																																																				0.617	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458791.1	0			19:11492697
PIAS3	10401	broad.mit.edu	37	1	145578668	145578668	+	Silent	SNP	G	G	A	rs201406617		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:145578668G>A	ENST00000393045.2	+	3	564	c.474G>A	c.(472-474)gcG>gcA	p.A158A	PIAS3_ENST00000369298.1_Silent_p.A123A|PIAS3_ENST00000369299.3_Silent_p.A149A	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	158	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTGAGGAAGCGCACTTTACCT	0.537																																						ENST00000393045.2		NA																	0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28						c.(472-474)gcG>gcA		protein inhibitor of activated STAT, 3		G		1,4405	2.1+/-5.4	0,1,2202	216.0	188.0	198.0		474	-5.5	0.9	1		198	0,8600		0,0,4300	no	coding-synonymous	PIAS3	NM_006099.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		158/629	145578668	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145578668G>A	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.474G>A	1.37:g.145578668G>A		False	False		Somatic	0				PIAS3_ENST00000369299.3_Silent_p.A149A|PIAS3_ENST00000369298.1_Silent_p.A123A	p.A158A	NM_006099.3	NP_006090.2	WXS	Illumina HiSeq	Phase_I	Q9Y6X2	PIAS3_HUMAN			3	564	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		158			PINIT.		Q9UFI3	Silent	SNP	ENST00000393045.2	37	c.474G>A	CCDS920.2																																																																																				0.537	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	0	NM_006099		1:145578668
ZFPM2	23414	broad.mit.edu	37	8	106431448	106431448	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr8:106431448C>G	ENST00000407775.2	+	2	367	c.117C>G	c.(115-117)gaC>gaG	p.D39E	ZFPM2_ENST00000520492.1_5'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	39					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CCAAAGGAGACTTTCCATTGG	0.423																																						ENST00000407775.2		NA																	0				NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(115-117)gaC>gaG		zinc finger protein, FOG family member 2							101.0	98.0	99.0					8																	106431448		1851	4102	5953	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106431448C>G	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.117C>G	8.37:g.106431448C>G	ENSP00000384179:p.Asp39Glu	True	False		Somatic	0				ZFPM2_ENST00000520492.1_5'UTR	p.D39E	NM_012082.3	NP_036214.2	WXS	Illumina HiSeq	Phase_I	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		2	367	+			39					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.117C>G	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.361570	0.41801	.	.	ENSG00000169946	ENST00000407775	T	0.19394	2.15	5.37	5.37	0.77165	.	0.088240	0.42964	D	0.000630	T	0.10809	0.0264	N	0.05124	-0.11	0.80722	D	1	B	0.12630	0.006	B	0.10450	0.005	T	0.20472	-1.0274	10	0.25106	T	0.35	.	12.4488	0.55666	0.0:0.9232:0.0:0.0768	.	39	Q8WW38	FOG2_HUMAN	E	39	ENSP00000384179:D39E	ENSP00000384179:D39E	D	+	3	2	ZFPM2	106500624	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.989000	0.49393	2.528000	0.85240	0.591000	0.81541	GAC		0.423	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1	0			8:106431448
HCN4	10021	broad.mit.edu	37	15	73616169	73616169	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr15:73616169G>T	ENST00000261917.3	-	8	3258	c.2265C>A	c.(2263-2265)tgC>tgA	p.C755*		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	755					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CGCGGTGCGCGCAGTGGGCCA	0.637																																						ENST00000261917.3		NA																	0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(2263-2265)tgC>tgA		hyperpolarization activated cyclic nucleotide-gated potassium channel 4							49.0	55.0	53.0					15																	73616169		2198	4297	6495	SO:0001587	stop_gained	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73616169G>T	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.2265C>A	15.37:g.73616169G>T	ENSP00000261917:p.Cys755*	True	False		Somatic	0					p.C755*	NM_005477.2	NP_005468.1	WXS	Illumina HiSeq	Phase_I	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	8	3258	-			755					Q9UMQ7	Nonsense_Mutation	SNP	ENST00000261917.3	37	c.2265C>A	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	G	43	10.237229	0.99366	.	.	ENSG00000138622	ENST00000261917	.	.	.	3.45	-4.57	0.03421	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	5.844	0.18652	0.4255:0.0:0.4383:0.1362	.	.	.	.	X	755	.	ENSP00000261917:C755X	C	-	3	2	HCN4	71403222	0.001000	0.12720	0.425000	0.26659	0.252000	0.25951	-1.587000	0.02108	-1.258000	0.02471	0.305000	0.20034	TGC		0.637	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	0	NM_005477		15:73616169
IKZF2	22807	broad.mit.edu	37	2	213914507	213914507	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr2:213914507G>C	ENST00000434687.1	-	6	813	c.504C>G	c.(502-504)ttC>ttG	p.F168L	IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000421754.2_Missense_Mutation_p.F142L|IKZF2_ENST00000342002.2_Missense_Mutation_p.F174L|IKZF2_ENST00000374319.4_Missense_Mutation_p.F142L|IKZF2_ENST00000451136.2_Missense_Mutation_p.F142L|IKZF2_ENST00000413091.3_Missense_Mutation_p.F168L|IKZF2_ENST00000457361.1_Missense_Mutation_p.F168L			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	168					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		AAGGACATTTGAACGGCTTCT	0.493																																						ENST00000457361.1		NA																	0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(502-504)ttC>ttG		IKAROS family zinc finger 2 (Helios)							92.0	81.0	85.0					2																	213914507		2203	4300	6503	SO:0001583	missense	22807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:213914507G>C	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.504C>G	2.37:g.213914507G>C	ENSP00000412869:p.Phe168Leu	True	False		Somatic	0				IKZF2_ENST00000451136.2_Missense_Mutation_p.F142L|IKZF2_ENST00000434687.1_Missense_Mutation_p.F168L|IKZF2_ENST00000413091.3_Missense_Mutation_p.F168L|IKZF2_ENST00000342002.2_Missense_Mutation_p.F174L|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000421754.2_Missense_Mutation_p.F142L|IKZF2_ENST00000374319.4_Missense_Mutation_p.F142L	p.F168L	NM_016260.2	NP_057344.2	WXS	Illumina HiSeq	Phase_I	Q9UKS7	IKZF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)	5	672	-		Esophageal squamous(248;0.0559)|Renal(323;0.218)	168					Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Missense_Mutation	SNP	ENST00000434687.1	37	c.504C>G	CCDS2395.1	.	.	.	.	.	.	.	.	.	.	G	34	5.358031	0.95854	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000421754;ENST00000413091	T;T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;1.98;0.45;1.98;-0.17	6.03	6.03	0.97812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.74329	0.3702	L	0.52823	1.66	0.80722	D	1	D;D;D;D	0.89917	0.99;0.974;1.0;0.994	P;D;D;D	0.79108	0.825;0.969;0.985;0.992	T	0.73984	-0.3810	10	0.54805	T	0.06	-7.0219	13.7134	0.62682	0.0699:0.0:0.9301:0.0	.	142;142;142;168	C9JCG7;C9JTM9;Q9UKS7-2;Q9UKS7	.;.;.;IKZF2_HUMAN	L	168;174;168;142;142;142;168	ENSP00000410447:F168L;ENSP00000342876:F174L;ENSP00000412869:F168L;ENSP00000363439:F142L;ENSP00000395203:F142L;ENSP00000399574:F142L;ENSP00000402334:F168L	ENSP00000342876:F174L	F	-	3	2	IKZF2	213622752	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.709000	0.61867	2.861000	0.98227	0.655000	0.94253	TTC		0.493	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	0	NM_016260		2:213914507
WNT7A	7476	broad.mit.edu	37	3	13860914	13860914	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr3:13860914C>A	ENST00000285018.4	-	4	881	c.577G>T	c.(577-579)Gag>Tag	p.E193*		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	193					asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						ATGTTCTCCTCCAGGATCTGC	0.657																																						ENST00000285018.4		NA																	0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						c.(577-579)Gag>Tag		wingless-type MMTV integration site family, member 7A							88.0	85.0	86.0					3																	13860914		2203	4300	6503	SO:0001587	stop_gained	7476				activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity	g.chr3:13860914C>A	D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"""Wingless-type MMTV integration sites"""	12786	protein-coding gene	gene with protein product	"""proto-oncogene Wnt7a protein"""	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.577G>T	3.37:g.13860914C>A	ENSP00000285018:p.Glu193*	False	False		Somatic	0					p.E193*	NM_004625.3	NP_004616.2	WXS	Illumina HiSeq	Phase_I	O00755	WNT7A_HUMAN			4	881	-			193					Q96H90|Q9Y560	Nonsense_Mutation	SNP	ENST00000285018.4	37	c.577G>T	CCDS2616.1	.	.	.	.	.	.	.	.	.	.	c	37	6.310859	0.97462	.	.	ENSG00000154764	ENST00000285018	.	.	.	4.29	4.29	0.51040	.	0.170785	0.49916	D	0.000132	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.1402	0.86750	0.0:1.0:0.0:0.0	.	.	.	.	X	193	.	ENSP00000285018:E193X	E	-	1	0	WNT7A	13835915	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	7.810000	0.86072	2.121000	0.65114	0.558000	0.71614	GAG		0.657	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252031.2	0	NM_004625		3:13860914
MST1R	4486	broad.mit.edu	37	3	49936064	49936064	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr3:49936064A>G	ENST00000296474.3	-	4	1633	c.1606T>C	c.(1606-1608)Tgc>Cgc	p.C536R	MST1R_ENST00000344206.4_Missense_Mutation_p.C536R|CTD-2330K9.2_ENST00000435478.1_RNA	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	536					cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GCCCTTAGGCAACGCCCACAG	0.612																																						ENST00000296474.3		NA																	0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.(1606-1608)Tgc>Cgc		macrophage stimulating 1 receptor (c-met-related tyrosine kinase)							66.0	70.0	69.0					3																	49936064		2203	4300	6503	SO:0001583	missense	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49936064A>G	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.1606T>C	3.37:g.49936064A>G	ENSP00000296474:p.Cys536Arg	False	False		Somatic	0				MST1R_ENST00000344206.4_Missense_Mutation_p.C536R	p.C536R	NM_002447.2	NP_002438	WXS	Illumina HiSeq	Phase_I	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	4	1633	-			536					B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	37	c.1606T>C	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.221236	0.79464	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.77489	-1.1;-1.1	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.90563	0.7042	M	0.92026	3.265	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;0.998	D	0.92564	0.6060	10	0.87932	D	0	-23.5053	16.2118	0.82165	1.0:0.0:0.0:0.0	.	430;536;536;536	Q04912-4;Q04912-6;Q04912-5;Q04912	.;.;.;RON_HUMAN	R	536	ENSP00000296474:C536R;ENSP00000341325:C536R	ENSP00000296474:C536R	C	-	1	0	MST1R	49911068	1.000000	0.71417	0.967000	0.41034	0.799000	0.45148	8.290000	0.89925	2.234000	0.73211	0.402000	0.26972	TGC		0.612	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1	0			3:49936064
MARVELD3	91862	broad.mit.edu	37	16	71674725	71674725	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr16:71674725G>A	ENST00000299952.4	+	3	1071	c.1028G>A	c.(1027-1029)cGc>cAc	p.R343H	PHLPP2_ENST00000540628.1_3'UTR|MARVELD3_ENST00000565261.1_3'UTR|MARVELD3_ENST00000561682.1_Intron	NM_001017967.3|NM_001271329.1	NP_001017967.2|NP_001258258.1	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	346	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				CTCTATGCCCGCAAGGGTCTC	0.587																																						ENST00000299952.4		NA																	0				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17						c.(1027-1029)cGc>cAc		MARVEL domain containing 3							65.0	60.0	62.0					16																	71674725		2198	4300	6498	SO:0001583	missense	91862					integral to membrane		g.chr16:71674725G>A	BC013376	CCDS10904.1, CCDS32478.1, CCDS59270.1	16q22.2	2008-02-05	2004-07-12	2004-07-14	ENSG00000140832	ENSG00000140832			30525	protein-coding gene	gene with protein product		614094	"""MARVEL (membrane-associating) domain containing 3"""	MRVLDC3			Standard	NM_001017967		Approved		uc002fat.4	Q96A59	OTTHUMG00000137591	ENST00000299952.4:c.1028G>A	16.37:g.71674725G>A	ENSP00000299952:p.Arg343His	True	False		Somatic	0				MARVELD3_ENST00000561682.1_Intron|MARVELD3_ENST00000565261.1_3'UTR|PHLPP2_ENST00000540628.1_3'UTR	p.R343H	NM_001017967.3|NM_001271329.1	NP_001017967.2|NP_001258258.1	WXS	Illumina HiSeq	Phase_I	Q96A59	MALD3_HUMAN			3	1071	+		Ovarian(137;0.125)	346			MARVEL.		A8K820|H3BQM5|Q96MJ4	Missense_Mutation	SNP	ENST00000299952.4	37	c.1028G>A	CCDS32478.1	.	.	.	.	.	.	.	.	.	.	G	32	5.120380	0.94385	.	.	ENSG00000140832	ENST00000299952	D	0.86865	-2.18	5.79	5.79	0.91817	.	0.096682	0.64402	D	0.000001	D	0.93288	0.7861	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	D	0.93287	0.6665	9	0.59425	D	0.04	-23.7209	17.535	0.87827	0.0:0.0:1.0:0.0	.	343	Q96A59-2	.	H	343	ENSP00000299952:R343H	ENSP00000299952:R343H	R	+	2	0	MARVELD3	70232226	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.861000	0.75478	2.739000	0.93911	0.655000	0.94253	CGC		0.587	MARVELD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268990.1	0	NM_052858		16:71674725
ACOX1	51	broad.mit.edu	37	17	73947567	73947567	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:73947567C>T	ENST00000301608.4	-	8	1096	c.1036G>A	c.(1036-1038)Gca>Aca	p.A346T	ACOX1_ENST00000537812.1_Missense_Mutation_p.A308T|ACOX1_ENST00000293217.5_Missense_Mutation_p.A346T	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	346					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	TTCATGTATGCGCCCACAAAC	0.488																																						ENST00000537812.1		NA																	0				large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						c.(922-924)Gca>Aca		acyl-CoA oxidase 1, palmitoyl							156.0	148.0	150.0					17																	73947567		2203	4300	6503	SO:0001583	missense	51				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding	g.chr17:73947567C>T	U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"""acyl-Coenzyme A oxidase 1, palmitoyl"""			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.1036G>A	17.37:g.73947567C>T	ENSP00000301608:p.Ala346Thr	False	False		Somatic	0				ACOX1_ENST00000301608.4_Missense_Mutation_p.A346T|ACOX1_ENST00000293217.5_Missense_Mutation_p.A346T	p.A308T	NM_001185039.1	NP_001171968.1	WXS	Illumina HiSeq	Phase_I	Q15067	ACOX1_HUMAN			8	1570	-			346					A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Missense_Mutation	SNP	ENST00000301608.4	37	c.922G>A	CCDS11735.1	.	.	.	.	.	.	.	.	.	.	C	8.782	0.928597	0.18131	.	.	ENSG00000161533	ENST00000301608;ENST00000293217;ENST00000537812;ENST00000539791;ENST00000538781	T;T;T	0.69806	-0.43;-0.43;-0.43	5.72	2.1	0.27182	Acyl-CoA dehydrogenase/oxidase C-terminal (2);	0.481838	0.25035	N	0.033647	T	0.42517	0.1206	N	0.16743	0.435	0.09310	N	1	B;B;B;B	0.23735	0.09;0.09;0.005;0.016	B;B;B;B	0.25987	0.065;0.065;0.007;0.01	T	0.20605	-1.0270	10	0.13853	T	0.58	-0.7919	4.8255	0.13414	0.1402:0.581:0.0:0.2789	.	278;308;346;346	F5H0M0;F5GYQ8;Q15067;Q15067-2	.;.;ACOX1_HUMAN;.	T	346;346;308;346;278	ENSP00000301608:A346T;ENSP00000293217:A346T;ENSP00000441257:A308T	ENSP00000293217:A346T	A	-	1	0	ACOX1	71459162	0.180000	0.23148	0.027000	0.17364	0.863000	0.49368	1.554000	0.36266	0.137000	0.18759	0.462000	0.41574	GCA		0.488	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439503.1	0			17:73947567
MEGF10	84466	broad.mit.edu	37	5	126771182	126771182	+	Splice_Site	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr5:126771182G>A	ENST00000274473.6	+	17	2371		c.e17+1		MEGF10_ENST00000503335.2_Splice_Site	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10						homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.?(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TGCTCTCAACGTAAGTCTTGT	0.373																																						ENST00000274473.6		NA																	1	Unknown(1)	p.?(1)	prostate(1)	breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.e17+1		multiple EGF-like-domains 10							96.0	80.0	85.0					5																	126771182		2203	4300	6503	SO:0001630	splice_region_variant	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126771182G>A	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.2104+1G>A	5.37:g.126771182G>A		False	False		Somatic	0				MEGF10_ENST00000503335.2_Splice_Site		NM_032446.2	NP_115822.1	WXS	Illumina HiSeq	Phase_I	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	17	2371	+		Prostate(80;0.165)	NA					Q68DE5|Q8WUL3	Splice_Site	SNP	ENST00000274473.6	37		CCDS4142.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.881482	0.91740	.	.	ENSG00000145794	ENST00000503335;ENST00000274473	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1542	0.98100	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MEGF10	126799081	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.776000	0.99001	2.767000	0.95098	0.563000	0.77884	.		0.373	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	0	NM_032446	Intron	5:126771182
CSMD3	114788	broad.mit.edu	37	8	113326150	113326150	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr8:113326150G>A	ENST00000297405.5	-	49	7925	c.7681C>T	c.(7681-7683)Cgg>Tgg	p.R2561W	CSMD3_ENST00000455883.2_Missense_Mutation_p.R2457W|CSMD3_ENST00000352409.3_Missense_Mutation_p.R2491W|CSMD3_ENST00000343508.3_Missense_Mutation_p.R2521W	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2561	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TATCTTATCCGGAAGCCTTTT	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5		NA																	0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(7681-7683)Cgg>Tgg		CUB and Sushi multiple domains 3							111.0	115.0	114.0					8																	113326150		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113326150G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7681C>T	8.37:g.113326150G>A	ENSP00000297405:p.Arg2561Trp	False	False	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	Somatic	0				CSMD3_ENST00000455883.2_Missense_Mutation_p.R2457W|CSMD3_ENST00000343508.3_Missense_Mutation_p.R2521W|CSMD3_ENST00000352409.3_Missense_Mutation_p.R2491W	p.R2561W	NM_198123.1	NP_937756.1	WXS	Illumina HiSeq	Phase_I	Q7Z407	CSMD3_HUMAN			49	7925	-			2561			CUB 14.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.7681C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.222747	0.58668	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15	5.63	2.35	0.29111	CUB (5);	0.278292	0.30118	N	0.010380	T	0.38931	0.1059	L	0.51422	1.61	0.41494	D	0.988245	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.79108	0.944;0.967;0.992	T	0.17745	-1.0359	10	0.45353	T	0.12	.	15.2984	0.73928	0.0:0.0:0.5384:0.4615	.	2457;2561;2521	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	W	2521;2561;1831;2457;2491	ENSP00000345799:R2521W;ENSP00000297405:R2561W;ENSP00000341558:R1831W;ENSP00000412263:R2457W;ENSP00000343124:R2491W	ENSP00000297405:R2561W	R	-	1	2	CSMD3	113395326	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	0.785000	0.26830	0.624000	0.30286	0.579000	0.79373	CGG		0.358	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	0	NM_052900		8:113326150
FSD1	79187	broad.mit.edu	37	19	4310553	4310553	+	Silent	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr19:4310553G>A	ENST00000221856.6	+	6	597	c.450G>A	c.(448-450)gcG>gcA	p.A150A	FSD1_ENST00000597590.1_Silent_p.A150A|FSD1_ENST00000598010.1_3'UTR	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	150	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGACTTCGCGCAAGAGCGGC	0.592																																						ENST00000221856.6		NA																	0				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(448-450)gcG>gcA		fibronectin type III and SPRY domain containing 1							82.0	71.0	75.0					19																	4310553		2203	4300	6503	SO:0001819	synonymous_variant	79187				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus		g.chr19:4310553G>A	AF316829	CCDS12127.1	19p13.3	2013-02-11	2005-03-01			ENSG00000105255		"""Fibronectin type III domain containing"""	13745	protein-coding gene	gene with protein product		609828	"""fibronectin type 3 and SPRY domain containing 1"""			11267680	Standard	NM_024333		Approved	MGC3213, MIR1	uc002lzy.2	Q9BTV5		ENST00000221856.6:c.450G>A	19.37:g.4310553G>A		False	False		Somatic	0				FSD1_ENST00000597590.1_Silent_p.A150A|FSD1_ENST00000598010.1_3'UTR	p.A150A	NM_024333.2	NP_077309.1	WXS	Illumina HiSeq	Phase_I	Q9BTV5	FSD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)	6	597	+			150			COS.		B2RDT0|Q9BXN0|Q9HAG4	Silent	SNP	ENST00000221856.6	37	c.450G>A	CCDS12127.1																																																																																				0.592	FSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458091.1	0	NM_024333		19:4310553
CAMTA1	23261	broad.mit.edu	37	1	7798217	7798217	+	Missense_Mutation	SNP	C	C	T	rs139225365		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:7798217C>T	ENST00000303635.7	+	16	4064	c.3857C>T	c.(3856-3858)aCa>aTa	p.T1286I	CAMTA1_ENST00000439411.2_Missense_Mutation_p.T1286I	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1286					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GTCCCCGAGACACTCAGCCCC	0.552			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7		NA		Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(3856-3858)aCa>aTa		calmodulin binding transcription activator 1		C	ILE/THR	0,4406		0,0,2203	57.0	55.0	56.0		3857	4.1	1.0	1	dbSNP_134	56	2,8598	2.2+/-6.3	0,2,4298	no	missense	CAMTA1	NM_015215.2	89	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	1286/1674	7798217	2,13004	2203	4300	6503	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7798217C>T	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.3857C>T	1.37:g.7798217C>T	ENSP00000306522:p.Thr1286Ile	False	False		Somatic	0				CAMTA1_ENST00000439411.2_Missense_Mutation_p.T1286I	p.T1286I	NM_015215.2	NP_056030.1	WXS	Illumina HiSeq	Phase_I	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	16	4064	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	1286					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.3857C>T	CCDS30576.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.38|13.38	2.220885|2.220885	0.39201|0.39201	0.0|0.0	2.33E-4|2.33E-4	ENSG00000171735|ENSG00000171735	ENST00000495233|ENST00000303635;ENST00000439411;ENST00000414738;ENST00000303646	.|T;T	.|0.21191	.|2.03;2.02	5.06|5.06	4.13|4.13	0.48395|0.48395	.|.	.|0.382752	.|0.30732	.|N	.|0.008991	T|T	0.16854|0.16854	0.0405|0.0405	L|L	0.36672|0.36672	1.1|1.1	0.33546|0.33546	D|D	0.595455|0.595455	.|B;B;B;B	.|0.31599	.|0.33;0.112;0.138;0.183	.|B;B;B;B	.|0.23716	.|0.048;0.01;0.013;0.016	T|T	0.14783|0.14783	-1.0460|-1.0460	5|10	.|0.34782	.|T	.|0.22	-0.2018|-0.2018	15.0419|15.0419	0.71796|0.71796	0.1432:0.8568:0.0:0.0|0.1432:0.8568:0.0:0.0	.|.	.|1286;373;242;1286	.|Q9Y6Y1-2;B4DXR3;Q7Z7P1;Q9Y6Y1	.|.;.;.;CMTA1_HUMAN	Y|I	243|1286;1286;373;242	.|ENSP00000306522:T1286I;ENSP00000402561:T1286I	.|ENSP00000306522:T1286I	H|T	+|+	1|2	0|0	CAMTA1|CAMTA1	7720804|7720804	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.644000|3.644000	0.54381|0.54381	1.213000|1.213000	0.43380|0.43380	0.655000|0.655000	0.94253|0.94253	CAC|ACA		0.552	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	0	NM_015215		1:7798217
UBE3C	9690	broad.mit.edu	37	7	156974879	156974879	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr7:156974879C>T	ENST00000348165.5	+	8	1208	c.848C>T	c.(847-849)cCg>cTg	p.P283L	UBE3C_ENST00000389103.4_Missense_Mutation_p.P240L	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	283					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TTCATCATTCCGGCGCTTGCA	0.438																																						ENST00000348165.5		NA																	0				central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63						c.(847-849)cCg>cTg		ubiquitin protein ligase E3C							97.0	99.0	98.0					7																	156974879		2203	4300	6503	SO:0001583	missense	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:156974879C>T	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.848C>T	7.37:g.156974879C>T	ENSP00000309198:p.Pro283Leu	False	False		Somatic	0				UBE3C_ENST00000389103.4_Missense_Mutation_p.P240L	p.P283L	NM_014671.2	NP_055486.2	WXS	Illumina HiSeq	Phase_I	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	8	1208	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	283					A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	c.848C>T	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595433	0.66219	.	.	ENSG00000009335	ENST00000348165;ENST00000389103	T	0.55052	0.54	4.78	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.69806	0.3152	M	0.71581	2.175	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	T	0.72636	-0.4233	10	0.59425	D	0.04	.	13.2227	0.59896	0.0:0.9225:0.0:0.0775	.	283;283;240	Q15386;Q15386-2;Q15386-3	UBE3C_HUMAN;.;.	L	283;240	ENSP00000309198:P283L	ENSP00000309198:P283L	P	+	2	0	UBE3C	156667640	1.000000	0.71417	0.148000	0.22405	0.453000	0.32348	7.455000	0.80726	1.147000	0.42369	0.455000	0.32223	CCG		0.438	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	0	NM_014671		7:156974879
ITGA7	3679	broad.mit.edu	37	12	56086734	56086734	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr12:56086734C>T	ENST00000555728.1	-	22	2898	c.2870G>A	c.(2869-2871)cGg>cAg	p.R957Q	ITGA7_ENST00000394229.2_Missense_Mutation_p.R913Q|ITGA7_ENST00000257879.6_Missense_Mutation_p.R913Q|ITGA7_ENST00000394230.2_Missense_Mutation_p.R917Q|ITGA7_ENST00000553804.1_Missense_Mutation_p.R917Q|ITGA7_ENST00000347027.6_Missense_Mutation_p.R907Q|ITGA7_ENST00000452168.2_Missense_Mutation_p.R820Q|ITGA7_ENST00000257880.7_Missense_Mutation_p.R957Q			Q13683	ITA7_HUMAN	integrin, alpha 7	957	Poly-Arg.				blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CAGCTCCCGCCGCCTCCTATC	0.597																																						ENST00000257880.7		NA																	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(2869-2871)cGg>cAg		integrin, alpha 7							43.0	42.0	42.0					12																	56086734		2203	4300	6503	SO:0001583	missense	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56086734C>T		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.2870G>A	12.37:g.56086734C>T	ENSP00000452387:p.Arg957Gln	False	False		Somatic	0				ITGA7_ENST00000553804.1_Missense_Mutation_p.R917Q|ITGA7_ENST00000452168.2_Missense_Mutation_p.R820Q|ITGA7_ENST00000257879.6_Missense_Mutation_p.R913Q|ITGA7_ENST00000394229.2_Missense_Mutation_p.R913Q|ITGA7_ENST00000347027.6_Missense_Mutation_p.R907Q|ITGA7_ENST00000555728.1_Missense_Mutation_p.R957Q|ITGA7_ENST00000394230.2_Missense_Mutation_p.R917Q	p.R957Q			WXS	Illumina HiSeq	Phase_I	Q13683	ITA7_HUMAN			22	3089	-			957			Poly-Arg.		B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37	c.2870G>A		.	.	.	.	.	.	.	.	.	.	C	31	5.096296	0.94197	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89	5.17	5.17	0.71159	Integrin alpha-2 (1);	0.262756	0.29861	N	0.011019	T	0.57169	0.2035	M	0.72353	2.195	0.34499	D	0.705846	D;P;D;D	0.60160	0.963;0.948;0.969;0.987	P;P;P;P	0.56612	0.745;0.768;0.802;0.776	T	0.69709	-0.5072	10	0.56958	D	0.05	.	14.1032	0.65070	0.0:1.0:0.0:0.0	.	820;957;917;976	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	Q	917;913;907;820;957;917;913;786;957	ENSP00000452120:R917Q;ENSP00000257879:R913Q;ENSP00000343009:R907Q;ENSP00000393844:R820Q;ENSP00000257880:R957Q;ENSP00000377777:R917Q;ENSP00000377776:R913Q;ENSP00000452387:R957Q	ENSP00000257879:R913Q	R	-	2	0	ITGA7	54373001	0.899000	0.30636	1.000000	0.80357	0.989000	0.77384	1.504000	0.35726	2.706000	0.92434	0.585000	0.79938	CGG		0.597	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	0	NM_002206		12:56086734
ADRA1D	146	broad.mit.edu	37	20	4202204	4202204	+	Missense_Mutation	SNP	G	G	A	rs147522815		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr20:4202204G>A	ENST00000379453.4	-	2	1801	c.1685C>T	c.(1684-1686)gCc>gTc	p.A562V		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	562				KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1). {ECO:0000305}.	adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	GCTGTAGTCGGCCAATTCGTA	0.667											OREG0025743	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000379453.4		NA																	0				endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1684-1686)gCc>gTc		adrenoceptor alpha 1D	Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)						34.0	37.0	36.0					20																	4202204		2203	4300	6503	SO:0001583	missense	146				cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr20:4202204G>A	U03864	CCDS13079.1	20p13	2012-08-08	2012-05-09		ENSG00000171873	ENSG00000171873		"""GPCR / Class A : Adrenoceptors : alpha"""	280	protein-coding gene	gene with protein product		104219	"""adrenergic, alpha-1D-, receptor"""			8039425	Standard	NM_000678		Approved	ADRA1R, ADRA1A, ADRA1	uc002wkr.2	P25100	OTTHUMG00000031779	ENST00000379453.4:c.1685C>T	20.37:g.4202204G>A	ENSP00000368766:p.Ala562Val	False	False		Somatic	0	OREG0025743	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	617		p.A562V	NM_000678.3	NP_000669.1	WXS	Illumina HiSeq	Phase_I	P25100	ADA1D_HUMAN			2	1801	-			562	KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1).				Q9NPY0	Missense_Mutation	SNP	ENST00000379453.4	37	c.1685C>T	CCDS13079.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.618816	0.46736	.	.	ENSG00000171873	ENST00000379453	T	0.59364	0.27	3.62	-0.0134	0.13984	.	.	.	.	.	T	0.39279	0.1072	L	0.29908	0.895	0.23089	N	0.99832	B	0.27498	0.18	B	0.22601	0.04	T	0.20174	-1.0283	9	0.32370	T	0.25	.	6.836	0.23937	0.0:0.1711:0.5057:0.3231	.	562	P25100	ADA1D_HUMAN	V	562	ENSP00000368766:A562V	ENSP00000368766:A562V	A	-	2	0	ADRA1D	4150204	0.998000	0.40836	0.119000	0.21687	0.634000	0.38068	3.407000	0.52644	0.257000	0.21650	0.305000	0.20034	GCC		0.667	ADRA1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077812.2	0	NM_000678		20:4202204
THBS4	7060	broad.mit.edu	37	5	79366517	79366517	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr5:79366517G>A	ENST00000350881.2	+	12	1694	c.1504G>A	c.(1504-1506)Ggc>Agc	p.G502S	THBS4_ENST00000511733.1_Missense_Mutation_p.G411S|CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	502					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		AGACAGAGATGGCATTGGCGA	0.517																																						ENST00000350881.2		NA																	0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(1504-1506)Ggc>Agc		thrombospondin 4							144.0	128.0	133.0					5																	79366517		2203	4300	6503	SO:0001583	missense	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79366517G>A		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.1504G>A	5.37:g.79366517G>A	ENSP00000339730:p.Gly502Ser	False	False		Somatic	0				CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.G411S	p.G502S	NM_003248.4	NP_003239.2	WXS	Illumina HiSeq	Phase_I	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	12	1694	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	502					B2R909|Q86TG2	Missense_Mutation	SNP	ENST00000350881.2	37	c.1504G>A	CCDS4049.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721678	0.68959	.	.	ENSG00000113296	ENST00000350881;ENST00000511733	D;D	0.98914	-4.89;-5.23	5.17	5.17	0.71159	.	0.049134	0.85682	D	0.000000	D	0.98302	0.9437	M	0.93106	3.38	0.80722	D	1	P	0.46621	0.881	B	0.41619	0.361	D	0.98048	1.0386	10	0.51188	T	0.08	-36.174	12.2251	0.54455	0.0773:0.0:0.9227:0.0	.	502	P35443	TSP4_HUMAN	S	502;411	ENSP00000339730:G502S;ENSP00000422298:G411S	ENSP00000339730:G502S	G	+	1	0	THBS4	79402273	1.000000	0.71417	0.999000	0.59377	0.693000	0.40251	6.549000	0.73900	2.703000	0.92315	0.655000	0.94253	GGC		0.517	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1	0			5:79366517
COL3A1	1281	broad.mit.edu	37	2	189850473	189850473	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr2:189850473G>A	ENST00000304636.3	+	4	586	c.416G>A	c.(415-417)gGa>gAa	p.G139E	COL3A1_ENST00000317840.5_Missense_Mutation_p.G139E	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	139					aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	GGCCCCCCTGGAATCTGTGAA	0.448																																						ENST00000304636.3		NA																	0				NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(415-417)gGa>gAa		collagen, type III, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						43.0	46.0	45.0					2																	189850473		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189850473G>A	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.416G>A	2.37:g.189850473G>A	ENSP00000304408:p.Gly139Glu	False	False		Somatic	0				COL3A1_ENST00000317840.5_Missense_Mutation_p.G139E	p.G139E	NM_000090.3	NP_000081	WXS	Illumina HiSeq	Phase_I	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		4	586	+			139					D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.416G>A	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.673160	0.88445	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.99353	-5.77;-5.77	4.62	4.62	0.57501	.	0.000000	0.40908	D	0.000991	D	0.99327	0.9764	M	0.73598	2.24	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.99087	1.0839	10	0.72032	D	0.01	.	17.6469	0.88151	0.0:0.0:1.0:0.0	.	139	P02461	CO3A1_HUMAN	E	139	ENSP00000304408:G139E;ENSP00000315243:G139E	ENSP00000304408:G139E	G	+	2	0	COL3A1	189558718	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.104000	0.94239	2.414000	0.81942	0.313000	0.20887	GGA		0.448	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	0	NM_000090		2:189850473
HIVEP3	59269	broad.mit.edu	37	1	42048455	42048455	+	Missense_Mutation	SNP	C	C	T	rs201109287		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:42048455C>T	ENST00000372583.1	-	4	2899	c.2014G>A	c.(2014-2016)Gca>Aca	p.A672T	HIVEP3_ENST00000429157.2_Missense_Mutation_p.A672T|HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000247584.5_Missense_Mutation_p.A672T|HIVEP3_ENST00000372584.1_Missense_Mutation_p.A672T	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	672	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				ATGGGCTTTGCGATCTGAAGC	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		19315	0.001		0.0	False		,,,				2504	0.0					ENST00000372584.1		NA																	0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(2014-2016)Gca>Aca		human immunodeficiency virus type I enhancer binding protein 3							122.0	123.0	122.0					1																	42048455		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42048455C>T	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.2014G>A	1.37:g.42048455C>T	ENSP00000361664:p.Ala672Thr	False	False		Somatic	0				HIVEP3_ENST00000372583.1_Missense_Mutation_p.A672T|HIVEP3_ENST00000247584.5_Missense_Mutation_p.A672T|HIVEP3_ENST00000429157.2_Missense_Mutation_p.A672T	p.A672T	NM_001127714.2	NP_001121186.1	WXS	Illumina HiSeq	Phase_I	Q5T1R4	ZEP3_HUMAN			3	3028	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	672			No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.2014G>A	CCDS463.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	11.10	1.539311	0.27475	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.14640	2.49;2.49;2.49;2.49	4.48	-7.9	0.01169	.	0.893166	0.09602	N	0.780113	T	0.03871	0.0109	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.04013	0.001;0.0	T	0.41466	-0.9507	10	0.10636	T	0.68	8.1316	4.0533	0.09804	0.1904:0.4732:0.1847:0.1517	.	672;672	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	T	672	ENSP00000361665:A672T;ENSP00000361664:A672T;ENSP00000247584:A672T;ENSP00000410828:A672T	ENSP00000247584:A672T	A	-	1	0	HIVEP3	41821042	0.001000	0.12720	0.073000	0.20177	0.946000	0.59487	-0.679000	0.05203	-1.014000	0.03379	-0.459000	0.05422	GCA		0.463	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	0	NM_024503		1:42048455
LATS2	26524	broad.mit.edu	37	13	21562296	21562296	+	Silent	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr13:21562296C>T	ENST00000382592.4	-	4	2028	c.1623G>A	c.(1621-1623)gaG>gaA	p.E541E	LATS2_ENST00000542899.1_Silent_p.E541E|LATS2_ENST00000472754.1_5'Flank	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GGAGGCTCTGCTCCATGCCTG	0.657																																						ENST00000382592.4		NA																	0				breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45						c.(1621-1623)gaG>gaA		large tumor suppressor kinase 2							63.0	64.0	64.0					13																	21562296		2203	4300	6503	SO:0001819	synonymous_variant	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21562296C>T	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.1623G>A	13.37:g.21562296C>T		False	False		Somatic	0				LATS2_ENST00000542899.1_Silent_p.E541E	p.E541E	NM_014572.2	NP_055387.2	WXS	Illumina HiSeq	Phase_I	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	4	2028	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	541						Silent	SNP	ENST00000382592.4	37	c.1623G>A	CCDS9294.1																																																																																				0.657	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1	0			13:21562296
CSRNP2	81566	broad.mit.edu	37	12	51467710	51467710	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr12:51467710G>A	ENST00000228515.1	-	3	604	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	CSRNP2_ENST00000550461.1_5'Flank	NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	103					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						GTATAGCTCCGTACAGAGTTA	0.537																																						ENST00000228515.1		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						c.(307-309)Cgg>Tgg		cysteine-serine-rich nuclear protein 2							86.0	87.0	87.0					12																	51467710		2203	4300	6503	SO:0001583	missense	81566				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:51467710G>A	AJ298133	CCDS8807.1	12q13.11-q13.12	2012-04-17	2009-01-07	2009-01-07				"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16006	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 72"""		"""chromosome 12 open reading frame 22"", ""family with sequence similarity 130, member A1"""	C12orf22, FAM130A1		17726538	Standard	NM_030809		Approved	C12ORF2, TAIP-12, PPP1R72	uc001rxu.2	Q9H175		ENST00000228515.1:c.307C>T	12.37:g.51467710G>A	ENSP00000228515:p.Arg103Trp	False	False		Somatic	0					p.R103W	NM_030809.2	NP_110436.1	WXS	Illumina HiSeq	Phase_I	Q9H175	CSRN2_HUMAN			3	604	-			103						Missense_Mutation	SNP	ENST00000228515.1	37	c.307C>T	CCDS8807.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896722	0.72639	.	.	ENSG00000110925	ENST00000228515;ENST00000548206;ENST00000548981	T;T;T	0.47528	2.38;0.84;2.38	5.2	3.27	0.37495	.	0.000000	0.85682	D	0.000000	T	0.63546	0.2520	M	0.83223	2.63	0.48632	D	0.999686	D	0.76494	0.999	P	0.59288	0.855	T	0.69296	-0.5182	10	0.87932	D	0	-17.3738	10.0406	0.42155	0.0774:0.0:0.7849:0.1377	.	103	Q9H175	CSRN2_HUMAN	W	103;9;103	ENSP00000228515:R103W;ENSP00000447983:R9W;ENSP00000447657:R103W	ENSP00000228515:R103W	R	-	1	2	CSRNP2	49753977	0.998000	0.40836	0.918000	0.36340	0.983000	0.72400	2.687000	0.46976	1.574000	0.49760	0.655000	0.94253	CGG		0.537	CSRNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404893.1	0			12:51467710
RTN4	57142	broad.mit.edu	37	2	55252908	55252908	+	Missense_Mutation	SNP	A	A	C			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr2:55252908A>C	ENST00000337526.6	-	3	2570	c.2327T>G	c.(2326-2328)tTt>tGt	p.F776C	RTN4_ENST00000357732.4_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.F570C|RTN4_ENST00000394611.2_Missense_Mutation_p.F570C|RTN4_ENST00000405240.1_Missense_Mutation_p.F570C|RTN4_ENST00000404909.1_Missense_Mutation_p.F570C|RTN4_ENST00000354474.6_Missense_Mutation_p.F544C|RTN4_ENST00000317610.7_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	776					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						CATTGACTCAAATGAAGTCTC	0.363																																						ENST00000337526.6		NA																	0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						c.(2326-2328)tTt>tGt		reticulon 4							52.0	52.0	52.0					2																	55252908		2203	4297	6500	SO:0001583	missense	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55252908A>C	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.2327T>G	2.37:g.55252908A>C	ENSP00000337838:p.Phe776Cys	True	False		Somatic	0				RTN4_ENST00000357376.3_Missense_Mutation_p.F570C|RTN4_ENST00000354474.6_Missense_Mutation_p.F544C|RTN4_ENST00000405240.1_Missense_Mutation_p.F570C|RTN4_ENST00000404909.1_Missense_Mutation_p.F570C|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.F570C	p.F776C	NM_020532.4	NP_065393.1	WXS	Illumina HiSeq	Phase_I	Q9NQC3	RTN4_HUMAN			3	2570	-			776					O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	ENST00000337526.6	37	c.2327T>G	CCDS42684.1	.	.	.	.	.	.	.	.	.	.	A	2.415	-0.334465	0.05278	.	.	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474	T;T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25;2.25	5.45	-0.531	0.11894	.	1.868710	0.02414	N	0.081987	T	0.15132	0.0365	L	0.40543	1.245	0.09310	N	1	P	0.36438	0.553	B	0.34824	0.19	T	0.25710	-1.0124	10	0.59425	D	0.04	0.8146	5.228	0.15406	0.3847:0.0:0.4705:0.1449	.	776	Q9NQC3	RTN4_HUMAN	C	570;570;776;570;570;544	ENSP00000384471:F570C;ENSP00000349944:F570C;ENSP00000337838:F776C;ENSP00000378109:F570C;ENSP00000385650:F570C;ENSP00000346465:F544C	ENSP00000337838:F776C	F	-	2	0	RTN4	55106412	0.000000	0.05858	0.000000	0.03702	0.359000	0.29487	-0.187000	0.09656	-0.023000	0.13963	-0.242000	0.12053	TTT		0.363	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1	0			2:55252908
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	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.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	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	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	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)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(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	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93.0	83.0	86.0					12																	25398285		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.chr12:25398285C>G	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.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	p.G12R	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	225	-	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.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	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		12:25398285
SLC35G5	83650	broad.mit.edu	37	8	11188775	11188775	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr8:11188775G>A	ENST00000382435.4	+	1	379	c.160G>A	c.(160-162)Gtg>Atg	p.V54M		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	54	EamA 1.					integral component of membrane (GO:0016021)											TGCTGGCTTCGTGGGCCCCCT	0.662																																						ENST00000382435.4		NA																	0					NA						c.(160-162)Gtg>Atg		solute carrier family 35, member G5							75.0	78.0	77.0					8																	11188775		2203	4300	6503	SO:0001583	missense	83650					integral to membrane		g.chr8:11188775G>A	AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"""Solute carriers"""	15546	protein-coding gene	gene with protein product		615199	"""acyl-malonyl condensing enzyme 1-like 2"""	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.160G>A	8.37:g.11188775G>A	ENSP00000371872:p.Val54Met	False	False		Somatic	0					p.V54M	NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	WXS	Illumina HiSeq	Phase_I	Q96KT7	AMCL2_HUMAN			1	379	+			54			DUF6 1.		A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	c.160G>A	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350573	0.41599	.	.	ENSG00000177710	ENST00000382435	T	0.52057	0.68	0.34	0.34	0.15985	.	0.000000	0.40469	N	0.001093	T	0.48314	0.1493	L	0.32530	0.975	0.34820	D	0.738583	D	0.89917	1.0	D	0.72982	0.979	T	0.54070	-0.8348	10	0.33940	T	0.23	-6.0135	6.5344	0.22344	2.0E-4:0.0:0.9998:0.0	.	54	Q96KT7	S35G5_HUMAN	M	54	ENSP00000371872:V54M	ENSP00000371872:V54M	V	+	1	0	SLC35G5	11226185	1.000000	0.71417	0.970000	0.41538	0.304000	0.27724	1.667000	0.37471	0.426000	0.26116	0.089000	0.15464	GTG		0.662	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	0	NM_054028		8:11188775
TTN	7273	broad.mit.edu	37	2	179611913	179611913	+	Intron	SNP	T	T	G			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr2:179611913T>G	ENST00000591111.1	-	46	10585				TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Silent_p.R5072R|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGGAGTATCTCTCTAGAGTC	0.532																																						ENST00000360870.5		NA																	0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(15214-15216)Aga>Cga		titin							71.0	75.0	74.0					2																	179611913		2203	4300	6503	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179611913T>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-5265A>C	2.37:g.179611913T>G		True	False		Somatic	0				TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA	p.R5072R	NM_133379.3	NP_596870.2	WXS	Illumina HiSeq	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	15436	-			1179			Ig-like 31.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.15214A>C																																																																																					0.532	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	NM_133378		2:179611913
IGFBP4	3487	broad.mit.edu	37	17	38609333	38609333	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:38609333G>A	ENST00000269593.4	+	2	721	c.446G>A	c.(445-447)cGg>cAg	p.R149Q	IGFBP4_ENST00000542955.1_Missense_Mutation_p.R49Q	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	insulin-like growth factor binding protein 4	149					cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|DNA metabolic process (GO:0006259)|inflammatory response (GO:0006954)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			ATTCGAGACCGGAGCACCAGT	0.602																																					GBM(160;940 3581 26177)	ENST00000269593.4		NA																	0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						c.(445-447)cGg>cAg		insulin-like growth factor binding protein 4							76.0	71.0	73.0					17																	38609333		2203	4300	6503	SO:0001583	missense	3487				DNA metabolic process|signal transduction|skeletal system development			g.chr17:38609333G>A	M38177	CCDS11367.1	17q21.2	2014-09-16	2001-11-28		ENSG00000141753	ENSG00000141753			5473	protein-coding gene	gene with protein product	"""IGF-binding protein 4"""	146733	"""insulin-like growth factor-binding protein 4"""			1707125, 1704481	Standard	NM_001552		Approved	IBP4, BP-4, HT29-IGFBP, IGFBP-4	uc002hus.3	P22692	OTTHUMG00000133326	ENST00000269593.4:c.446G>A	17.37:g.38609333G>A	ENSP00000269593:p.Arg149Gln	False	False		Somatic	0				IGFBP4_ENST00000542955.1_Missense_Mutation_p.R49Q	p.R149Q	NM_001552.2	NP_001543.2	WXS	Illumina HiSeq	Phase_I	P22692	IBP4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)		2	721	+		Breast(137;0.000496)	149					A0N9W2|B4E351|Q5U012|Q9UCL6	Missense_Mutation	SNP	ENST00000269593.4	37	c.446G>A	CCDS11367.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.632840	0.47049	.	.	ENSG00000141753	ENST00000542955;ENST00000269593	T;T	0.26223	1.75;2.1	5.92	4.88	0.63580	Thyroglobulin type-1 (1);	0.660269	0.15633	N	0.252297	T	0.18383	0.0441	N	0.19112	0.55	0.33413	D	0.578843	B	0.24043	0.096	B	0.09377	0.004	T	0.09840	-1.0656	10	0.35671	T	0.21	-4.9399	15.905	0.79419	0.0:0.0:0.8563:0.1437	.	149	P22692	IBP4_HUMAN	Q	49;149	ENSP00000437734:R49Q;ENSP00000269593:R149Q	ENSP00000269593:R149Q	R	+	2	0	IGFBP4	35862859	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.924000	0.48876	2.818000	0.97014	0.655000	0.94253	CGG		0.602	IGFBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257134.1	0	NM_001552		17:38609333
MARS2	92935	broad.mit.edu	37	2	198571112	198571112	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr2:198571112G>A	ENST00000282276.6	+	1	1026	c.983G>A	c.(982-984)gGc>gAc	p.G328D	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	328					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)	p.G328D(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	TTAGGGGCCGGCATGAGCCCG	0.542																																						ENST00000282276.6		NA																	1	Substitution - Missense(1)	p.G328D(1)	lung(1)	breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22						c.(982-984)gGc>gAc		methionyl-tRNA synthetase 2, mitochondrial	L-Methionine(DB00134)						128.0	126.0	127.0					2																	198571112		2203	4300	6503	SO:0001583	missense	92935				methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity	g.chr2:198571112G>A	BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	25133	protein-coding gene	gene with protein product	"""methionine tRNA ligase 2, mitochondrial"""	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.983G>A	2.37:g.198571112G>A	ENSP00000282276:p.Gly328Asp	False	False		Somatic	0				AC011997.1_ENST00000409845.1_Intron	p.G328D	NM_138395.3	NP_612404.1	WXS	Illumina HiSeq	Phase_I	Q96GW9	SYMM_HUMAN			1	1026	+			328					A0AVC3|Q76E79|Q8IW62|Q8N7N4	Missense_Mutation	SNP	ENST00000282276.6	37	c.983G>A	CCDS33358.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352276	0.82132	.	.	ENSG00000247626	ENST00000282276;ENST00000499940	T	0.56611	0.45	5.45	5.45	0.79879	Aminoacyl-tRNA synthetase, class I (M) (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.109437	0.64402	D	0.000007	T	0.55401	0.1918	L	0.56340	1.77	0.80722	D	1	P	0.40376	0.715	P	0.46685	0.524	T	0.47156	-0.9139	10	0.13108	T	0.6	-14.7498	16.7845	0.85571	0.0:0.0:1.0:0.0	.	328	Q96GW9	SYMM_HUMAN	D	328;255	ENSP00000282276:G328D	ENSP00000282276:G328D	G	+	2	0	MARS2	198279357	1.000000	0.71417	0.917000	0.36280	0.977000	0.68977	9.746000	0.98859	2.575000	0.86900	0.655000	0.94253	GGC		0.542	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335477.1	0	NM_138395		2:198571112
GSG1	83445	broad.mit.edu	37	12	13240148	13240148	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr12:13240148C>T	ENST00000396302.3	-	5	898	c.700G>A	c.(700-702)Gac>Aac	p.D234N	GSG1_ENST00000351606.6_Missense_Mutation_p.D270N|GSG1_ENST00000432710.2_Silent_p.A205A|GSG1_ENST00000324458.8_Silent_p.A228A|GSG1_ENST00000337630.6_Silent_p.A192A|GSG1_ENST00000396310.2_Silent_p.A161A|GSG1_ENST00000537302.1_Silent_p.A164A|GSG1_ENST00000457134.2_Silent_p.A141A	NM_031289.3	NP_112579.2	Q2KHT4	GSG1_HUMAN	germ cell associated 1	0						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		AGTTGACAGTCGCTTGGAAGA	0.507																																						ENST00000396302.3		NA																	0				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10						c.(700-702)Gac>Aac		germ cell associated 1							133.0	115.0	121.0					12																	13240148		2203	4300	6503	SO:0001583	missense	83445					endoplasmic reticulum membrane|integral to membrane		g.chr12:13240148C>T	BC001796	CCDS8659.2, CCDS44835.1, CCDS44836.1, CCDS55806.1, CCDS55807.1, CCDS55808.1	12p13.31	2007-12-03			ENSG00000111305	ENSG00000111305			19716	protein-coding gene	gene with protein product							Standard	NM_031289		Approved	MGC3146	uc001rbn.3	Q2KHT4	OTTHUMG00000150148	ENST00000396302.3:c.700G>A	12.37:g.13240148C>T	ENSP00000379596:p.Asp234Asn	False	False		Somatic	0				GSG1_ENST00000324458.8_Silent_p.A228A|GSG1_ENST00000396310.2_Silent_p.A161A|GSG1_ENST00000432710.2_Silent_p.A205A|GSG1_ENST00000537302.1_Silent_p.A164A|GSG1_ENST00000337630.6_Silent_p.A192A|GSG1_ENST00000351606.6_Missense_Mutation_p.D270N|GSG1_ENST00000457134.2_Silent_p.A141A	p.D234N	NM_031289.3	NP_112579.2	WXS	Illumina HiSeq	Phase_I	Q2KHT4	GSG1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.15)	5	898	-		Prostate(47;0.183)	0					Q8N4M3|Q8NBR4|Q8NBS0|Q8NBT1|Q96LP9|Q96SI6|Q9BUY4	Missense_Mutation	SNP	ENST00000396302.3	37	c.700G>A	CCDS8659.2	.	.	.	.	.	.	.	.	.	.	C	3.860	-0.030023	0.07543	.	.	ENSG00000111305	ENST00000396302;ENST00000351606;ENST00000405543	T;T	0.38240	1.16;1.15	5.2	-0.697	0.11284	.	.	.	.	.	T	0.23210	0.0561	.	.	.	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.05550	-1.0878	8	0.36615	T	0.2	.	7.5868	0.27998	0.0:0.1412:0.4491:0.4097	.	270;270;234	Q2KHT4-7;G3XAB9;F1T0A0	.;.;.	N	234;270;231	ENSP00000379596:D234N;ENSP00000336857:D270N	ENSP00000336857:D270N	D	-	1	0	GSG1	13131415	0.994000	0.37717	0.994000	0.49952	0.812000	0.45895	0.278000	0.18753	0.004000	0.14682	-0.477000	0.04895	GAC		0.507	GSG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316545.1	0	NM_031289		12:13240148
ZNF407	55628	broad.mit.edu	37	18	72347372	72347372	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr18:72347372C>T	ENST00000299687.5	+	1	4397	c.4397C>T	c.(4396-4398)gCc>gTc	p.A1466V	ZNF407_ENST00000577538.1_Missense_Mutation_p.A1466V|ZNF407_ENST00000582337.1_Missense_Mutation_p.A1466V|ZNF407_ENST00000309902.6_Missense_Mutation_p.A1466V	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1466					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CTGGCTAGTGCCGGCCACATG	0.498																																						ENST00000299687.5		NA																	0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(4396-4398)gCc>gTc		zinc finger protein 407							37.0	41.0	39.0					18																	72347372		1917	4158	6075	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72347372C>T	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.4397C>T	18.37:g.72347372C>T	ENSP00000299687:p.Ala1466Val	False	False		Somatic	0				ZNF407_ENST00000309902.6_Missense_Mutation_p.A1466V|ZNF407_ENST00000582337.1_Missense_Mutation_p.A1466V|ZNF407_ENST00000577538.1_Missense_Mutation_p.A1466V	p.A1466V	NM_017757.2	NP_060227.2	WXS	Illumina HiSeq	Phase_I	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	4397	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	1466					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.4397C>T	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.639450	0.87760	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.11495	2.77;3.22	5.59	5.59	0.84812	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.067772	0.56097	D	0.000026	T	0.14056	0.0340	N	0.04880	-0.145	0.39317	D	0.965188	D;D;D	0.67145	0.995;0.995;0.996	D;D;D	0.66602	0.909;0.909;0.945	T	0.18808	-1.0325	10	0.44086	T	0.13	.	12.8789	0.58006	0.0:0.9256:0.0:0.0744	.	1466;1466;1466	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	V	1466	ENSP00000299687:A1466V;ENSP00000310359:A1466V	ENSP00000299687:A1466V	A	+	2	0	ZNF407	70476360	1.000000	0.71417	0.992000	0.48379	0.910000	0.53928	4.654000	0.61469	0.041000	0.15688	-0.482000	0.04802	GCC		0.498	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	0	NM_017757		18:72347372
TRPV6	55503	broad.mit.edu	37	7	142572369	142572369	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr7:142572369G>A	ENST00000359396.3	-	11	1572	c.1327C>T	c.(1327-1329)Cgg>Tgg	p.R443W	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	443					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CTGATGAGCCGCATCACCATG	0.607																																						ENST00000359396.3		NA																	0				breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.(1327-1329)Cgg>Tgg		transient receptor potential cation channel, subfamily V, member 6							77.0	62.0	67.0					7																	142572369		2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142572369G>A	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1327C>T	7.37:g.142572369G>A	ENSP00000352358:p.Arg443Trp	False	False		Somatic	0					p.R443W	NM_018646.3	NP_061116	WXS	Illumina HiSeq	Phase_I	Q9H1D0	TRPV6_HUMAN			11	1572	-	Melanoma(164;0.059)		443					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.1327C>T	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.267374	0.59540	.	.	ENSG00000165125	ENST00000359396;ENST00000311470;ENST00000436401	D;D	0.88975	-2.45;-2.45	4.52	2.68	0.31781	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.93854	0.8034	M	0.89287	3.02	0.80722	D	1	D	0.67145	0.996	P	0.62885	0.908	D	0.93494	0.6838	10	0.56958	D	0.05	-32.9258	11.9495	0.52946	0.0:0.0:0.5445:0.4555	.	443	Q9H1D0	TRPV6_HUMAN	W	443;275;66	ENSP00000352358:R443W;ENSP00000411100:R66W	ENSP00000310825:R275W	R	-	1	2	TRPV6	142282491	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	1.441000	0.35035	0.629000	0.30376	0.561000	0.74099	CGG		0.607	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	0	NM_014274		7:142572369
LOC101243545	101243545	broad.mit.edu	37	3	161147009	161147009	+	lincRNA	SNP	A	A	G	rs572435760	byFrequency	TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr3:161147009A>G	ENST00000473595.1	+	0	1231				RP11-3P17.5_ENST00000602890.1_lincRNA	NR_102265.1																						CCGAATCAGGATGTTGACCTT	0.438													N|||	6	0.00119808	0.0038	0.0	5008	,	,		16178	0.0		0.0	False		,,,				2504	0.001					ENST00000473595.1		NA																	0					NA															100.0	110.0	106.0					3																	161147009		1506	2683	4189			0							g.chr3:161147009A>G																													3.37:g.161147009A>G		False	False		Somatic	0				RP11-3P17.5_ENST00000602890.1_lincRNA		NR_102265.1		WXS	Illumina HiSeq	Phase_I					0	1231	+			NA						RNA	SNP	ENST00000473595.1	37																																																																																						0.438	RP11-3P17.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000353185.1	0			3:161147009
SEC16A	9919	broad.mit.edu	37	9	139360714	139360714	+	Splice_Site	SNP	A	A	G			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr9:139360714A>G	ENST00000371706.3	-	5	3628		c.e5+1		SEC16A_ENST00000431893.2_Splice_Site|SEC16A_ENST00000290037.6_Splice_Site|SEC16A_ENST00000313050.7_Splice_Site			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)						COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GCCGCCGCGTACCTGGTGCGA	0.622																																						ENST00000313050.7		NA																	0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.e5+1		SEC16 homolog A (S. cerevisiae)							7.0	10.0	9.0					9																	139360714		2154	4237	6391	SO:0001630	splice_region_variant	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139360714A>G	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.3594+1T>C	9.37:g.139360714A>G		False	False		Somatic	0				SEC16A_ENST00000431893.2_Splice_Site|SEC16A_ENST00000371706.3_Splice_Site|SEC16A_ENST00000290037.6_Splice_Site		NM_014866.1	NP_055681.1	WXS	Illumina HiSeq	Phase_I	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	5	4202	-		Myeloproliferative disorder(178;0.0511)	NA					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Splice_Site	SNP	ENST00000371706.3	37			.	.	.	.	.	.	.	.	.	.	A	12.70	2.016902	0.35606	.	.	ENSG00000148396	ENST00000313050;ENST00000453963;ENST00000371706;ENST00000433860;ENST00000290037;ENST00000431893;ENST00000404925;ENST00000398348	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0933	0.72215	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SEC16A	138480535	1.000000	0.71417	0.950000	0.38849	0.057000	0.15508	6.084000	0.71335	2.168000	0.68352	0.528000	0.53228	.		0.622	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	0	XM_088459	Intron	9:139360714
CD55	1604	broad.mit.edu	37	1	207532957	207532957	+	3'UTR	SNP	C	C	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:207532957C>A	ENST00000367064.3	+	0	1406				CD55_ENST00000465534.1_3'UTR|CD55_ENST00000314754.8_Silent_p.A422A|CD55_ENST00000391921.4_3'UTR|CD55_ENST00000367067.4_3'UTR|CD55_ENST00000367062.4_3'UTR|CD55_ENST00000367065.5_Silent_p.A421A|CD55_ENST00000391920.4_3'UTR	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)						CD4-positive, alpha-beta T cell cytokine production (GO:0035743)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|maternal process involved in parturition (GO:0060137)|negative regulation of complement activation (GO:0045916)|positive regulation of CD4-positive, alpha-beta T cell activation (GO:2000516)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of complement activation (GO:0030449)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|respiratory burst (GO:0045730)|response to peptide hormone (GO:0043434)|response to virus (GO:0009615)|spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	enzyme inhibitor activity (GO:0004857)|lipid binding (GO:0008289)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	CTGACTTAGCCAAAGAAGAGT	0.348																																						ENST00000314754.8		NA																	0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(1264-1266)gcC>gcA		CD55 molecule, decay accelerating factor for complement (Cromer blood group)	Chloramphenicol(DB00446)						86.0	88.0	87.0					1																	207532957		2203	4300	6503	SO:0001624	3_prime_UTR_variant	1604				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity	g.chr1:207532957C>A	BC001288	CCDS31006.1, CCDS44307.1, CCDS73022.1	1q32	2014-09-17	2006-03-28	2006-02-23	ENSG00000196352	ENSG00000196352		"""CD molecules"", ""Blood group antigens"""	2665	protein-coding gene	gene with protein product		125240	"""decay accelerating factor for complement (CD55, Cromer blood group system)"""	DAF			Standard	XM_005273077		Approved	CR, TC, CROM	uc001hfr.4	P08174	OTTHUMG00000036255	ENST00000367064.3:c.*2C>A	1.37:g.207532957C>A		True	False		Somatic	0				CD55_ENST00000465534.1_3'UTR|CD55_ENST00000367062.4_3'UTR|CD55_ENST00000367064.3_3'UTR|CD55_ENST00000391921.4_3'UTR|CD55_ENST00000367067.4_3'UTR|CD55_ENST00000367065.5_Silent_p.A421A|CD55_ENST00000391920.4_3'UTR	p.A422A	NM_001114752.1	NP_001108224.1	WXS	Illumina HiSeq	Phase_I	P08174	DAF_HUMAN			11	1331	+			0					B1AP14|D3DT83|D3DT84|E7ER69|P09679|P78361|Q14UF2|Q14UF3|Q14UF4|Q14UF5|Q14UF6	Silent	SNP	ENST00000367064.3	37	c.1266C>A	CCDS31006.1																																																																																				0.348	CD55-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088208.2	0	NM_000574		1:207532957
STRADB	55437	broad.mit.edu	37	2	202337718	202337718	+	Silent	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr2:202337718G>A	ENST00000194530.3	+	5	599	c.234G>A	c.(232-234)cgG>cgA	p.R78R	STRADB_ENST00000392249.2_Silent_p.R78R	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	78	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cell morphogenesis (GO:0000902)|insulin receptor signaling pathway (GO:0008286)|JNK cascade (GO:0007254)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.R78R(2)		breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						ATCTTGCACGGCATACTCCCA	0.353																																						ENST00000194530.3		NA																	2	Substitution - coding silent(2)	p.R78R(2)	lung(2)	breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						c.(232-234)cgG>cgA		STE20-related kinase adaptor beta							127.0	124.0	125.0					2																	202337718		2203	4300	6503	SO:0001819	synonymous_variant	55437				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity	g.chr2:202337718G>A	AB038950	CCDS2348.1, CCDS56161.1	2q33.1	2010-09-30	2008-09-15	2008-09-15	ENSG00000082146	ENSG00000082146			13205	protein-coding gene	gene with protein product		607333	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2"""	ALS2CR2		11161814, 14511394	Standard	NM_018571		Approved	CALS-21, PAPK, ILPIPA, ILPIP	uc002uyd.4	Q9C0K7	OTTHUMG00000132831	ENST00000194530.3:c.234G>A	2.37:g.202337718G>A		False	False		Somatic	0				STRADB_ENST00000392249.2_Silent_p.R78R	p.R78R	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	WXS	Illumina HiSeq	Phase_I	Q9C0K7	STRAB_HUMAN			5	599	+			78			Protein kinase.		Q5BKY7|Q9P1L0	Silent	SNP	ENST00000194530.3	37	c.234G>A	CCDS2348.1																																																																																				0.353	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256297.1	0	NM_018571		2:202337718
MDN1	23195	broad.mit.edu	37	6	90421896	90421896	+	Missense_Mutation	SNP	C	C	T	rs200448957		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr6:90421896C>T	ENST00000369393.3	-	49	7625	c.7510G>A	c.(7510-7512)Gaa>Aaa	p.E2504K	MDN1_ENST00000428876.1_Missense_Mutation_p.E2504K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2504					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.E2504K(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTATTCACTTCGACTGCATTG	0.408																																						ENST00000369393.3		NA																	1	Substitution - Missense(1)	p.E2504K(1)	large_intestine(1)	NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(7510-7512)Gaa>Aaa		MDN1, midasin homolog (yeast)		C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	151.0	154.0	153.0		7510	3.0	0.0	6		153	0,8600		0,0,4300	no	missense	MDN1	NM_014611.1	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	2504/5597	90421896	1,13005	2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90421896C>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.7510G>A	6.37:g.90421896C>T	ENSP00000358400:p.Glu2504Lys	False	False		Somatic	0				MDN1_ENST00000428876.1_Missense_Mutation_p.E2504K	p.E2504K			WXS	Illumina HiSeq	Phase_I	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	49	7625	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	2504					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.7510G>A	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.870955	0.33069	2.27E-4	0.0	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03358	3.96;3.96	5.86	2.99	0.34606	.	0.415320	0.25860	N	0.027823	T	0.00815	0.0027	N	0.19112	0.55	0.26986	N	0.965244	B	0.21688	0.059	B	0.08055	0.003	T	0.47586	-0.9106	10	0.17369	T	0.5	.	11.2019	0.48747	0.0:0.6969:0.238:0.0651	.	2504	Q9NU22	MDN1_HUMAN	K	2504	ENSP00000358400:E2504K;ENSP00000413970:E2504K	ENSP00000358400:E2504K	E	-	1	0	MDN1	90478617	0.030000	0.19436	0.017000	0.16124	0.924000	0.55760	0.999000	0.29757	0.757000	0.33036	0.563000	0.77884	GAA		0.408	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2	0			6:90421896
TNR	7143	broad.mit.edu	37	1	175331865	175331865	+	Missense_Mutation	SNP	C	C	T	rs531733667		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:175331865C>T	ENST00000367674.2	-	14	3496	c.2788G>A	c.(2788-2790)Gaa>Aaa	p.E930K	TNR_ENST00000263525.2_Missense_Mutation_p.E930K			Q92752	TENR_HUMAN	tenascin R	930	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.E930K(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGGCTGATTTCGTATTCGGTA	0.532																																						ENST00000367674.2		NA																	2	Substitution - Missense(2)	p.E930K(2)	large_intestine(1)|breast(1)	NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(2788-2790)Gaa>Aaa		tenascin R							215.0	181.0	193.0					1																	175331865		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175331865C>T	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.2788G>A	1.37:g.175331865C>T	ENSP00000356646:p.Glu930Lys	True	False		Somatic	0				TNR_ENST00000263525.2_Missense_Mutation_p.E930K	p.E930K			WXS	Illumina HiSeq	Phase_I	Q92752	TENR_HUMAN			14	3496	-	Renal(580;0.146)		NA			Fibronectin type-III 7.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.2788G>A	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.717377	0.30413	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.58210	0.35;0.35	5.59	5.59	0.84812	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.42017	0.1184	L	0.31420	0.93	0.80722	D	1	P	0.44578	0.838	B	0.40534	0.332	T	0.21042	-1.0257	10	0.15066	T	0.55	.	17.3759	0.87391	0.0:1.0:0.0:0.0	.	930	Q92752	TENR_HUMAN	K	930;930;840	ENSP00000356646:E930K;ENSP00000263525:E930K	ENSP00000263525:E930K	E	-	1	0	TNR	173598488	1.000000	0.71417	0.987000	0.45799	0.744000	0.42396	6.819000	0.75262	2.625000	0.88918	0.650000	0.86243	GAA		0.532	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	0	NM_003285		1:175331865
KIAA1804	84451	broad.mit.edu	37	1	233511709	233511709	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:233511709C>T	ENST00000366624.3	+	7	1984	c.1723C>T	c.(1723-1725)Cga>Tga	p.R575*	MLK4_ENST00000366622.1_Nonsense_Mutation_p.R21*	NM_032435.2	NP_115811.2												p.R575*(3)									CACAGTCTTTCGACAAGAAGA	0.318																																						ENST00000366624.3		NA																	3	Substitution - Nonsense(3)	p.R575*(3)	ovary(1)|prostate(1)|large_intestine(1)		NA						c.(1723-1725)Cga>Tga									80.0	83.0	82.0					1																	233511709		2203	4299	6502	SO:0001587	stop_gained	0							g.chr1:233511709C>T																												ENST00000366624.3:c.1723C>T	1.37:g.233511709C>T	ENSP00000355583:p.Arg575*	True	False		Somatic	0				MLK4_ENST00000366622.1_Nonsense_Mutation_p.R21*	p.R575*	NM_032435.2	NP_115811.2	WXS	Illumina HiSeq	Phase_I					7	1984	+			NA						Nonsense_Mutation	SNP	ENST00000366624.3	37	c.1723C>T	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	C	43	9.898159	0.99290	.	.	ENSG00000143674	ENST00000366624;ENST00000366622	.	.	.	5.44	5.44	0.79542	.	0.076288	0.49305	D	0.000143	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4568	0.94895	0.0:1.0:0.0:0.0	.	.	.	.	X	575;21	.	ENSP00000355581:R21X	R	+	1	2	RP5-862P8.2	231578332	0.932000	0.31603	0.993000	0.49108	0.988000	0.76386	4.339000	0.59322	2.832000	0.97577	0.655000	0.94253	CGA		0.318	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1	0			1:233511709
SRCAP	10847	broad.mit.edu	37	16	30723277	30723277	+	Missense_Mutation	SNP	C	C	G	rs374756213		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr16:30723277C>G	ENST00000262518.4	+	12	1999	c.1614C>G	c.(1612-1614)agC>agG	p.S538R	SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000344771.4_Missense_Mutation_p.S538R|SRCAP_ENST00000395059.2_Missense_Mutation_p.S538R	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	538	Glu-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AATCACAGAGCCAAGCAGATG	0.498																																						ENST00000262518.4		NA																	0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(1612-1614)agC>agG		Snf2-related CREBBP activator protein							94.0	93.0	93.0					16																	30723277		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30723277C>G	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.1614C>G	16.37:g.30723277C>G	ENSP00000262518:p.Ser538Arg	False	False		Somatic	0				SRCAP_ENST00000344771.4_Missense_Mutation_p.S538R|SRCAP_ENST00000395059.2_Missense_Mutation_p.S538R	p.S538R	NM_006662.2	NP_006653.2	WXS	Illumina HiSeq	Phase_I	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		12	1999	+			538			Glu-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.1614C>G	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	7.096	0.573060	0.13623	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91237	-2.81;-2.79;-2.79	4.74	3.79	0.43588	.	0.097043	0.46442	D	0.000291	D	0.83078	0.5176	L	0.36672	1.1	0.28350	N	0.920921	P;P;P	0.37276	0.589;0.589;0.454	B;B;B	0.33454	0.108;0.164;0.079	T	0.74934	-0.3495	10	0.25751	T	0.34	-10.7481	10.4907	0.44750	0.0:0.9073:0.0:0.0927	.	538;538;538	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	R	538	ENSP00000262518:S538R;ENSP00000378499:S538R;ENSP00000343042:S538R	ENSP00000262518:S538R	S	+	3	2	SRCAP	30630778	0.997000	0.39634	1.000000	0.80357	0.863000	0.49368	0.795000	0.26972	1.355000	0.45865	0.563000	0.77884	AGC		0.498	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	0	NM_006662		16:30723277
TENM2	57451	broad.mit.edu	37	5	167182058	167182058	+	Intron	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr5:167182058G>A	ENST00000518659.1	+	3	541				TENM2_ENST00000520393.1_Intron|TENM2_ENST00000520394.1_De_novo_Start_InFrame|TENM2_ENST00000545108.1_Intron|TENM2_ENST00000519204.1_De_novo_Start_InFrame	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2						axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										AGCTTACGCCGATGGTGAGCC	0.532																																						ENST00000519204.1		NA																	0					NA								teneurin transmembrane protein 2							173.0	176.0	175.0					5																	167182058		1964	4146	6110	SO:0001627	intron_variant	57451							g.chr5:167182058G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.503-120933G>A	5.37:g.167182058G>A		False	False		Somatic	0				TENM2_ENST00000545108.1_Intron|TENM2_ENST00000518659.1_Intron|TENM2_ENST00000520393.1_Intron|TENM2_ENST00000520394.1_De_novo_Start_InFrame				WXS	Illumina HiSeq	Phase_I					0	118	+			NA					Q9ULU2	Translation_Start_Site	SNP	ENST00000518659.1	37																																																																																						0.532	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	0	NM_001122679		5:167182058
ATP8B4	79895	broad.mit.edu	37	15	50223420	50223420	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr15:50223420C>T	ENST00000284509.6	-	16	1679	c.1538G>A	c.(1537-1539)cGg>cAg	p.R513Q	ATP8B4_ENST00000559829.1_Missense_Mutation_p.R513Q	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	513						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CTCTGGGGTCCGGGATTTAAA	0.398																																						ENST00000284509.6		NA																	0				breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73						c.(1537-1539)cGg>cAg		ATPase, class I, type 8B, member 4							118.0	121.0	120.0					15																	50223420		2196	4295	6491	SO:0001583	missense	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50223420C>T	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.1538G>A	15.37:g.50223420C>T	ENSP00000284509:p.Arg513Gln	True	False		Somatic	0				ATP8B4_ENST00000559829.1_Missense_Mutation_p.R513Q	p.R513Q	NM_024837.2	NP_079113.2	WXS	Illumina HiSeq	Phase_I	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	16	1679	-		all_lung(180;0.00183)	513					Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.1538G>A	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	C	35	5.454782	0.96223	.	.	ENSG00000104043	ENST00000284509	T	0.72505	-0.66	5.61	5.61	0.85477	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.87233	0.6126	M	0.90082	3.085	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.89451	0.3730	10	0.87932	D	0	.	17.1302	0.86724	0.0:1.0:0.0:0.0	.	513	Q8TF62	AT8B4_HUMAN	Q	513	ENSP00000284509:R513Q	ENSP00000284509:R513Q	R	-	2	0	ATP8B4	48010712	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.532000	0.81985	2.648000	0.89879	0.585000	0.79938	CGG		0.398	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	0	NM_024837		15:50223420
DNAH2	146754	broad.mit.edu	37	17	7696378	7696378	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:7696378G>A	ENST00000572933.1	+	48	8884	c.7424G>A	c.(7423-7425)gGc>gAc	p.G2475D	DNAH2_ENST00000389173.2_Missense_Mutation_p.G2475D			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2475	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G2475D(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCATTCGGGGGCAAAAGCATG	0.512																																						ENST00000572933.1		NA																	1	Substitution - Missense(1)	p.G2475D(1)	kidney(1)	NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(7423-7425)gGc>gAc		dynein, axonemal, heavy chain 2							143.0	123.0	130.0					17																	7696378		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7696378G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.7424G>A	17.37:g.7696378G>A	ENSP00000458355:p.Gly2475Asp	True	False		Somatic	0				DNAH2_ENST00000389173.2_Missense_Mutation_p.G2475D	p.G2475D			WXS	Illumina HiSeq	Phase_I	Q9P225	DYH2_HUMAN			48	8884	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2475			AAA 3 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.7424G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.608500	0.87258	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.64260	-0.09	4.39	4.39	0.52855	ATPase, AAA+ type, core (1);	0.127184	0.52532	D	0.000078	D	0.85071	0.5613	H	0.96430	3.82	0.80722	D	1	D	0.63880	0.993	D	0.73708	0.981	D	0.90106	0.4188	10	0.72032	D	0.01	.	15.9412	0.79756	0.0:0.0:1.0:0.0	.	2475	Q9P225	DYH2_HUMAN	D	2475	ENSP00000373825:G2475D	ENSP00000353818:G2475D	G	+	2	0	DNAH2	7637103	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.091000	0.94151	2.295000	0.77249	0.632000	0.83419	GGC		0.512	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	0	NM_020877		17:7696378
OGDHL	55753	broad.mit.edu	37	10	50946068	50946068	+	Silent	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr10:50946068G>A	ENST00000374103.4	-	19	2527	c.2442C>T	c.(2440-2442)atC>atT	p.I814I	OGDHL_ENST00000419399.1_Silent_p.I757I|OGDHL_ENST00000432695.1_Silent_p.I605I|OGDHL_ENST00000490844.1_5'UTR	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	814					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						AGTTGACCACGATCCAGTTGC	0.622																																						ENST00000374103.4		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						c.(2440-2442)atC>atT		oxoglutarate dehydrogenase-like							254.0	234.0	241.0					10																	50946068		2203	4300	6503	SO:0001819	synonymous_variant	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50946068G>A	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.2442C>T	10.37:g.50946068G>A		False	False		Somatic	0				OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000419399.1_Silent_p.I757I|OGDHL_ENST00000432695.1_Silent_p.I605I	p.I814I	NM_018245.2	NP_060715.2	WXS	Illumina HiSeq	Phase_I	Q9ULD0	OGDHL_HUMAN			19	2527	-			814					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Silent	SNP	ENST00000374103.4	37	c.2442C>T	CCDS7234.1																																																																																				0.622	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	0	NM_018245		10:50946068
OR52M1	119772	broad.mit.edu	37	11	4566499	4566499	+	Missense_Mutation	SNP	G	G	A	rs138278883		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr11:4566499G>A	ENST00000360213.1	+	1	79	c.79G>A	c.(79-81)Gtc>Atc	p.V27I		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTCCCTACACGTCTGGCTCTC	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		19756	0.0		0.0	False		,,,				2504	0.001					ENST00000360213.1		NA																	0				endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(79-81)Gtc>Atc		olfactory receptor, family 52, subfamily M, member 1		G	ILE/VAL	0,4402		0,0,2201	107.0	96.0	100.0		79	-2.3	0.0	11	dbSNP_134	100	1,8595	1.2+/-3.3	0,1,4297	no	missense	OR52M1	NM_001004137.1	29	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	benign	27/318	4566499	1,12997	2201	4298	6499	SO:0001583	missense	119772				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4566499G>A	AB065789	CCDS31353.1	11p15.4	2012-08-09	2002-11-13	2002-11-15	ENSG00000197790	ENSG00000197790		"""GPCR / Class A : Olfactory receptors"""	15225	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily M, member 1 pseudogene"""	OR52M1P			Standard	NM_001004137		Approved		uc010qyf.2	Q8NGK5	OTTHUMG00000165706	ENST00000360213.1:c.79G>A	11.37:g.4566499G>A	ENSP00000353343:p.Val27Ile	False	False		Somatic	0					p.V27I	NM_001004137.1	NP_001004137.1	WXS	Illumina HiSeq	Phase_I	Q8NGK5	O52M1_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	79	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	27						Missense_Mutation	SNP	ENST00000360213.1	37	c.79G>A	CCDS31353.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.289704	0.00248	0.0	1.16E-4	ENSG00000197790	ENST00000360213	T	0.00296	8.24	4.82	-2.26	0.06867	.	0.644741	0.13674	N	0.370680	T	0.00073	0.0002	N	0.11313	0.125	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28808	-1.0032	10	0.02654	T	1	.	6.5865	0.22624	0.4305:0.4103:0.1592:0.0	.	27	Q8NGK5	O52M1_HUMAN	I	27	ENSP00000353343:V27I	ENSP00000353343:V27I	V	+	1	0	OR52M1	4523075	0.000000	0.05858	0.003000	0.11579	0.145000	0.21501	-1.630000	0.02028	-0.158000	0.11040	-0.294000	0.09567	GTC		0.542	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385847.1	0	NM_001004137		11:4566499
SPTLC1	10558	broad.mit.edu	37	9	94794825	94794825	+	Silent	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr9:94794825G>A	ENST00000262554.2	-	15	1349	c.1344C>T	c.(1342-1344)gtC>gtT	p.V448V		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	448					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	GTTCCACCGTGACCACAACCC	0.567																																						ENST00000262554.2		NA																	0				breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						c.(1342-1344)gtC>gtT		serine palmitoyltransferase, long chain base subunit 1	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						158.0	129.0	139.0					9																	94794825		2203	4300	6503	SO:0001819	synonymous_variant	10558					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr9:94794825G>A	Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"""hereditary sensory neuropathy, type 1"""	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.1344C>T	9.37:g.94794825G>A		False	False		Somatic	0					p.V448V	NM_006415.2	NP_006406.1	WXS	Illumina HiSeq	Phase_I	O15269	SPTC1_HUMAN			15	1349	-			448					A8K681|Q5VWB4|Q96IX6	Silent	SNP	ENST00000262554.2	37	c.1344C>T	CCDS6692.1																																																																																				0.567	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	0	NM_006415		9:94794825
STOX2	56977	broad.mit.edu	37	4	184931519	184931519	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr4:184931519G>A	ENST00000308497.4	+	3	2963	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K	STOX2_ENST00000438269.1_Missense_Mutation_p.E510K	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	510					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		AGGGACGCCGGAAGACCTTGC	0.547																																						ENST00000308497.4		NA																	0				breast(1)|endometrium(7)|lung(6)	14						c.(1528-1530)Gaa>Aaa		storkhead box 2							39.0	44.0	42.0					4																	184931519		1951	4159	6110	SO:0001583	missense	56977				embryo development|maternal placenta development			g.chr4:184931519G>A	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.1528G>A	4.37:g.184931519G>A	ENSP00000311257:p.Glu510Lys	False	False		Somatic	0				STOX2_ENST00000438269.1_Missense_Mutation_p.E510K	p.E510K	NM_020225.1	NP_064610.1	WXS	Illumina HiSeq	Phase_I	Q9P2F5	STOX2_HUMAN		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)	3	2963	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	510					A6H8U4|Q9NPS8	Missense_Mutation	SNP	ENST00000308497.4	37	c.1528G>A	CCDS47167.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.971202	0.53614	.	.	ENSG00000173320	ENST00000308497;ENST00000438269	T;T	0.80738	-0.41;-1.41	5.65	5.65	0.86999	.	0.048167	0.85682	D	0.000000	T	0.76011	0.3928	L	0.29908	0.895	0.80722	D	1	B;B	0.32245	0.361;0.083	B;B	0.34652	0.187;0.057	T	0.75717	-0.3220	10	0.72032	D	0.01	-13.8256	19.9142	0.97043	0.0:0.0:1.0:0.0	.	510;510	Q9P2F5-2;Q9P2F5	.;STOX2_HUMAN	K	510	ENSP00000311257:E510K;ENSP00000390127:E510K	ENSP00000311257:E510K	E	+	1	0	STOX2	185168513	1.000000	0.71417	0.970000	0.41538	0.426000	0.31534	9.263000	0.95617	2.941000	0.99782	0.655000	0.94253	GAA		0.547	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	0	NM_020225		4:184931519
KBTBD6	89890	broad.mit.edu	37	13	41705440	41705440	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr13:41705440G>T	ENST00000379485.1	-	1	1442	c.1208C>A	c.(1207-1209)aCa>aAa	p.T403K	KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	403								p.T403K(7)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CCAGAGGTCTGTCCTGGGCTG	0.507																																						ENST00000379485.1		NA																	7	Substitution - Missense(7)	p.T403K(7)	prostate(2)|skin(2)|NS(1)|kidney(1)|endometrium(1)	NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43						c.(1207-1209)aCa>aAa		kelch repeat and BTB (POZ) domain containing 6							112.0	104.0	107.0					13																	41705440		2203	4300	6503	SO:0001583	missense	89890						protein binding	g.chr13:41705440G>T	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1208C>A	13.37:g.41705440G>T	ENSP00000368799:p.Thr403Lys	False	False		Somatic	0				KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K	p.T403K	NM_152903.4	NP_690867.3	WXS	Illumina HiSeq	Phase_I	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	1442	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	403					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	c.1208C>A	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	g	0.018	-1.482688	0.01027	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.64618	-0.11;-0.11	3.8	1.18	0.20946	Kelch-type beta propeller (1);	0.117488	0.53938	N	0.000042	T	0.17066	0.0410	N	0.00260	-1.75	0.27866	N	0.940205	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39313	-0.9620	10	0.02654	T	1	.	5.3509	0.16036	0.0:0.1047:0.1871:0.7082	.	337;403	F5GZN7;Q86V97	.;KBTB6_HUMAN	K	403;337	ENSP00000368799:T403K;ENSP00000444326:T337K	ENSP00000368799:T403K	T	-	2	0	KBTBD6	40603440	1.000000	0.71417	0.993000	0.49108	0.691000	0.40173	3.048000	0.49862	0.145000	0.18977	-0.521000	0.04368	ACA		0.507	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	0	NM_152903		13:41705440
CSF2RA	1438	broad.mit.edu	37	X	1422850	1422850	+	Silent	SNP	T	T	C			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chrX:1422850T>C	ENST00000381524.3	+	11	1167	c.981T>C	c.(979-981)atT>atC	p.I327I	CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000417535.2_Silent_p.I361I|CSF2RA_ENST00000361536.3_Intron|CSF2RA_ENST00000381529.3_Silent_p.I327I|CSF2RA_ENST00000381509.3_Silent_p.I327I|CSF2RA_ENST00000432318.2_Silent_p.I327I|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000501036.2_Silent_p.I194I|CSF2RA_ENST00000355432.3_Intron|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381500.1_Intron			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	327					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CTGTGTACATTTATGTGCTCC	0.498																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	ENST00000381524.3		NA																	0				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45						c.(979-981)atT>atC		colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)						511.0	447.0	469.0					X																	1422850		2203	4296	6499	SO:0001819	synonymous_variant	0					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1422850T>C	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.981T>C	X.37:g.1422850T>C		True	False		Somatic	0				CSF2RA_ENST00000381529.3_Silent_p.I327I|CSF2RA_ENST00000355432.3_Intron|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000417535.2_Silent_p.I361I|CSF2RA_ENST00000381500.1_Intron|CSF2RA_ENST00000361536.3_Intron|CSF2RA_ENST00000432318.2_Silent_p.I327I|CSF2RA_ENST00000501036.2_Silent_p.I194I|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381509.3_Silent_p.I327I|CSF2RA_ENST00000498153.1_3'UTR	p.I327I			WXS	Illumina HiSeq	Phase_I	P15509	CSF2R_HUMAN			11	1167	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	327					A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Silent	SNP	ENST00000381524.3	37	c.981T>C	CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	7.124	0.578594	0.13686	.	.	ENSG00000198223	ENST00000381507	.	.	.	0.806	-0.189	0.13260	.	.	.	.	.	T	0.55081	0.1898	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53187	-0.8474	5	0.62326	D	0.03	.	3.1091	0.06352	0.0:0.6445:0.0:0.3555	.	.	.	.	S	283	.	ENSP00000370918:F283S	F	+	2	0	CSF2RA	1382850	0.000000	0.05858	0.005000	0.12908	0.103000	0.19146	-0.764000	0.04735	-0.087000	0.12528	0.084000	0.15446	TTT		0.498	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2	0			X:1422850
EMR1	2015	broad.mit.edu	37	19	6926610	6926610	+	Silent	SNP	T	T	C			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr19:6926610T>C	ENST00000312053.4	+	16	2257	c.2220T>C	c.(2218-2220)aaT>aaC	p.N740N	EMR1_ENST00000381407.5_Silent_p.N599N|EMR1_ENST00000450315.3_Silent_p.N563N|EMR1_ENST00000381404.4_Silent_p.N688N|EMR1_ENST00000250572.8_Silent_p.N675N	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	740					cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GAATGCATAATCGGTGAGTGA	0.502																																						ENST00000312053.4		NA																	0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62						c.(2218-2220)aaT>aaC		egf-like module containing, mucin-like, hormone receptor-like 1							148.0	120.0	130.0					19																	6926610		2203	4300	6503	SO:0001819	synonymous_variant	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6926610T>C	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.2220T>C	19.37:g.6926610T>C		False	False		Somatic	0				EMR1_ENST00000381404.4_Silent_p.N688N|EMR1_ENST00000450315.3_Silent_p.N563N|EMR1_ENST00000381407.5_Silent_p.N599N|EMR1_ENST00000250572.8_Silent_p.N675N	p.N740N	NM_001974.4	NP_001965.3	WXS	Illumina HiSeq	Phase_I	Q14246	EMR1_HUMAN			16	2257	+	all_hematologic(4;0.166)		740					A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Silent	SNP	ENST00000312053.4	37	c.2220T>C	CCDS12175.1																																																																																				0.502	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1	0			19:6926610
JUNB	3726	broad.mit.edu	37	19	12902601	12902601	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr19:12902601G>T	ENST00000302754.4	+	1	292	c.16G>T	c.(16-18)Gaa>Taa	p.E6*		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	6					cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|decidualization (GO:0046697)|embryonic process involved in female pregnancy (GO:0060136)|gene expression (GO:0010467)|labyrinthine layer blood vessel development (GO:0060716)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|osteoclast differentiation (GO:0030316)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						CACTAAAATGGAACAGCCCTT	0.662																																						ENST00000302754.4		NA																	0				central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						c.(16-18)Gaa>Taa		jun B proto-oncogene							39.0	37.0	38.0					19																	12902601		2203	4299	6502	SO:0001587	stop_gained	3726					chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity	g.chr19:12902601G>T	M29039	CCDS12280.1	19p13.13	2013-01-10				ENSG00000171223		"""basic leucine zipper proteins"""	6205	protein-coding gene	gene with protein product		165161				2513129	Standard	NM_002229		Approved		uc002mvc.3	P17275		ENST00000302754.4:c.16G>T	19.37:g.12902601G>T	ENSP00000303315:p.Glu6*	False	False		Somatic	0					p.E6*	NM_002229.2	NP_002220.1	WXS	Illumina HiSeq	Phase_I	P17275	JUNB_HUMAN			1	292	+			6					Q96GH3	Nonsense_Mutation	SNP	ENST00000302754.4	37	c.16G>T	CCDS12280.1	.	.	.	.	.	.	.	.	.	.	G	39	7.821621	0.98507	.	.	ENSG00000171223	ENST00000302754	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.2411	17.7449	0.88418	0.0:0.0:1.0:0.0	.	.	.	.	X	6	.	ENSP00000303315:E6X	E	+	1	0	JUNB	12763601	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.685000	0.84117	2.484000	0.83849	0.561000	0.74099	GAA		0.662	JUNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451015.1	0	NM_002229		19:12902601
HAPLN1	1404	broad.mit.edu	37	5	82940318	82940318	+	Silent	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr5:82940318G>A	ENST00000274341.4	-	4	1489	c.639C>T	c.(637-639)ggC>ggT	p.G213G		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	213	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	ATTGCACAGAGCCATCACTGA	0.587																																						ENST00000274341.4		NA																	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34						c.(637-639)ggC>ggT		hyaluronan and proteoglycan link protein 1							43.0	48.0	46.0					5																	82940318		2203	4300	6503	SO:0001819	synonymous_variant	1404				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr5:82940318G>A		CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"""Immunoglobulin superfamily / V-set domain containing"""	2380	protein-coding gene	gene with protein product	"""Cartilage link protein"", ""hyaluronan and proteoglycan link protein 1"""	115435	"""cartilage linking protein 1"""	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.639C>T	5.37:g.82940318G>A		False	False		Somatic	0					p.G213G	NM_001884.3	NP_001875.1	WXS	Illumina HiSeq	Phase_I	P10915	HPLN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	4	1489	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	213			Link 1.		B2R9A9	Silent	SNP	ENST00000274341.4	37	c.639C>T	CCDS4061.1																																																																																				0.587	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	0	NM_001884		5:82940318
KMT2D	8085	broad.mit.edu	37	12	49416473	49416473	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr12:49416473G>A	ENST00000301067.7	-	51	16237	c.16238C>T	c.(16237-16239)gCa>gTa	p.A5413V		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5413	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GTCCTTGGCTGCATAGAGCCC	0.552																																						ENST00000301067.7		NA																	0					NA						c.(16237-16239)gCa>gTa		lysine (K)-specific methyltransferase 2D							137.0	147.0	144.0					12																	49416473		2032	4177	6209	SO:0001583	missense	8085							g.chr12:49416473G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.16238C>T	12.37:g.49416473G>A	ENSP00000301067:p.Ala5413Val	False	False		Somatic	0					p.A5413V	NM_003482.3	NP_003473.3	WXS	Illumina HiSeq	Phase_I					51	16237	-			NA					O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.16238C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.155372	0.57259	.	.	ENSG00000167548	ENST00000301067;ENST00000526209	D;D	0.91407	-2.84;-2.84	5.09	5.09	0.68999	SET domain (3);	0.000000	0.35739	N	0.003005	D	0.96358	0.8812	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97145	0.9827	10	0.87932	D	0	.	17.6392	0.88130	0.0:0.0:1.0:0.0	.	5413	O14686	MLL2_HUMAN	V	5413;94	ENSP00000301067:A5413V;ENSP00000435714:A94V	ENSP00000301067:A5413V	A	-	2	0	MLL2	47702740	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.760000	0.98935	2.546000	0.85860	0.591000	0.81541	GCA		0.552	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2	0			12:49416473
FASTKD1	79675	broad.mit.edu	37	2	170428438	170428438	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr2:170428438G>C	ENST00000453153.2	-	2	448	c.102C>G	c.(100-102)atC>atG	p.I34M	FASTKD1_ENST00000453929.2_Missense_Mutation_p.I34M	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	34					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						GTTCACAACTGATGGGTCGAA	0.358																																						ENST00000453153.2		NA																	0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						c.(100-102)atC>atG		FAST kinase domains 1							76.0	72.0	73.0					2																	170428438		2203	4300	6503	SO:0001583	missense	79675				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:170428438G>C	AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.102C>G	2.37:g.170428438G>C	ENSP00000400513:p.Ile34Met	False	False		Somatic	0				FASTKD1_ENST00000453929.2_Missense_Mutation_p.I34M	p.I34M	NM_024622.3	NP_078898.3	WXS	Illumina HiSeq	Phase_I	Q53R41	FAKD1_HUMAN			2	448	-			34					Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Missense_Mutation	SNP	ENST00000453153.2	37	c.102C>G	CCDS33318.1	.	.	.	.	.	.	.	.	.	.	G	8.662	0.900868	0.17686	.	.	ENSG00000138399	ENST00000453153;ENST00000453929;ENST00000438035;ENST00000445210	T;T	0.17854	2.25;2.25	5.07	0.625	0.17665	.	0.967032	0.08552	N	0.928866	T	0.13756	0.0333	L	0.36672	1.1	0.09310	N	1	P;P;P	0.51240	0.906;0.943;0.906	B;P;B	0.46940	0.332;0.532;0.264	T	0.13388	-1.0511	10	0.34782	T	0.22	-16.7467	0.4362	0.00479	0.2023:0.2566:0.2195:0.3215	.	34;34;34	D3DPC4;Q53R41-2;Q53R41	.;.;FAKD1_HUMAN	M	34	ENSP00000400513:I34M;ENSP00000403229:I34M	ENSP00000396769:I34M	I	-	3	3	FASTKD1	170136684	0.020000	0.18652	0.035000	0.18076	0.637000	0.38172	0.239000	0.18023	-0.051000	0.13334	0.591000	0.81541	ATC		0.358	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	0	NM_024622		2:170428438
CRKL	1399	broad.mit.edu	37	22	21288172	21288172	+	Silent	SNP	C	C	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr22:21288172C>A	ENST00000354336.3	+	2	926	c.417C>A	c.(415-417)gcC>gcA	p.A139A		NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog-like	139	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of MAPKK activity (GO:0000186)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|heart development (GO:0007507)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|parathyroid gland development (GO:0060017)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|thymus development (GO:0048538)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	poly(A) RNA binding (GO:0044822)|SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			GGAATGATGCCGAAGACCTGC	0.502																																					Pancreas(85;3 1441 23889 42519 42763)	ENST00000354336.3		NA																	0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14						c.(415-417)gcC>gcA		v-crk avian sarcoma virus CT10 oncogene homolog-like							123.0	126.0	125.0					22																	21288172		2203	4300	6503	SO:0001819	synonymous_variant	1399				JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity	g.chr22:21288172C>A		CCDS13785.1	22q11.21	2013-07-09	2013-07-09		ENSG00000099942	ENSG00000099942		"""SH2 domain containing"""	2363	protein-coding gene	gene with protein product		602007				8361759, 8798523	Standard	NM_005207		Approved		uc002ztf.2	P46109	OTTHUMG00000150807	ENST00000354336.3:c.417C>A	22.37:g.21288172C>A		False	False		Somatic	0					p.A139A	NM_005207.3	NP_005198.1	WXS	Illumina HiSeq	Phase_I	P46109	CRKL_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)		2	926	+	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	139			SH3 1.		A8KA44|D3DX35	Silent	SNP	ENST00000354336.3	37	c.417C>A	CCDS13785.1																																																																																				0.502	CRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320158.1	0	NM_005207		22:21288172
TJP1	7082	broad.mit.edu	37	15	30020212	30020212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr15:30020212G>A	ENST00000346128.6	-	16	2503	c.2029C>T	c.(2029-2031)Cga>Tga	p.R677*	TJP1_ENST00000400011.2_Nonsense_Mutation_p.R681*|RP11-680F8.4_ENST00000560740.1_RNA|TJP1_ENST00000356107.6_Nonsense_Mutation_p.R677*|TJP1_ENST00000545208.2_Nonsense_Mutation_p.R677*	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	677	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CCAGCGTCTCGTGGTTCACTC	0.393																																					Melanoma(77;681 1843 6309 6570)	ENST00000346128.6		NA																	0				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.(2029-2031)Cga>Tga		tight junction protein 1							115.0	109.0	111.0					15																	30020212		1895	4137	6032	SO:0001587	stop_gained	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30020212G>A		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.2029C>T	15.37:g.30020212G>A	ENSP00000281537:p.Arg677*	False	False		Somatic	0				TJP1_ENST00000356107.6_Nonsense_Mutation_p.R677*|TJP1_ENST00000545208.2_Nonsense_Mutation_p.R677*|TJP1_ENST00000400011.2_Nonsense_Mutation_p.R681*	p.R677*	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	WXS	Illumina HiSeq	Phase_I	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	16	2503	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	677			Guanylate kinase-like.		B4E3K1|Q2NKP3|Q4ZGJ6	Nonsense_Mutation	SNP	ENST00000346128.6	37	c.2029C>T	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	G	38	7.086799	0.98055	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	.	.	.	5.42	3.2	0.36748	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9192	0.52783	0.0:0.0:0.419:0.581	.	.	.	.	X	677;681;677;677;677	.	.	R	-	1	2	TJP1	27807504	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.681000	0.61663	1.366000	0.46076	0.655000	0.94253	CGA		0.393	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	0	NM_003257		15:30020212
DLG4	1742	broad.mit.edu	37	17	7099798	7099798	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:7099798G>C	ENST00000399506.2	-	10	1371	c.1180C>G	c.(1180-1182)Cca>Gca	p.P394A	DLG4_ENST00000302955.6_Missense_Mutation_p.P391A|DLG4_ENST00000399510.2_Missense_Mutation_p.P437A			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	394					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	GTACCTTCTGGTTTATACTGA	0.547																																						ENST00000399510.2		NA																	0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						c.(1309-1311)Cca>Gca		discs, large homolog 4 (Drosophila)							70.0	67.0	68.0					17																	7099798		2077	4198	6275	SO:0001583	missense	1742				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding	g.chr17:7099798G>C	U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.1180C>G	17.37:g.7099798G>C	ENSP00000382425:p.Pro394Ala	True	False		Somatic	0				DLG4_ENST00000302955.6_Missense_Mutation_p.P391A|DLG4_ENST00000399506.2_Missense_Mutation_p.P394A	p.P437A	NM_001365.3	NP_001356.1	WXS	Illumina HiSeq	Phase_I	P78352	DLG4_HUMAN			12	2161	-			394			SH3.		B7Z1S1|G5E939|Q92941|Q9UKK8	Missense_Mutation	SNP	ENST00000399506.2	37	c.1309C>G		.	.	.	.	.	.	.	.	.	.	G	18.12	3.552948	0.65425	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912;ENST00000539674	T;T;T	0.53857	0.6;0.6;0.6	4.28	4.28	0.50868	PDZ/DHR/GLGF (3);	.	.	.	.	T	0.69708	0.3141	M	0.72353	2.195	0.80722	D	1	D;D;P;P	0.76494	0.999;0.999;0.77;0.914	D;D;P;P	0.71656	0.953;0.974;0.632;0.698	T	0.74375	-0.3686	9	0.87932	D	0	.	14.277	0.66187	0.0:0.0:1.0:0.0	.	434;394;391;437	B9EGL1;P78352;G5E939;P78352-2	.;DLG4_HUMAN;.;.	A	394;391;437;437;334;437	ENSP00000382425:P394A;ENSP00000307471:P391A;ENSP00000382428:P437A	ENSP00000293813:P437A	P	-	1	0	DLG4	7040522	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.219000	0.78000	2.210000	0.71456	0.563000	0.77884	CCA		0.547	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	0	NM_001365		17:7099798
IL23R	149233	broad.mit.edu	37	1	67724439	67724439	+	Silent	SNP	C	C	G			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:67724439C>G	ENST00000347310.5	+	11	1689	c.1518C>G	c.(1516-1518)tcC>tcG	p.S506S	IL23R_ENST00000371002.1_3'UTR|IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000395227.1_Silent_p.S251S	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	506					defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						AAATTACTTCCTTAACACTTA	0.353																																						ENST00000347310.5		NA																	0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(1516-1518)tcC>tcG		interleukin 23 receptor							56.0	56.0	56.0					1																	67724439		2203	4300	6503	SO:0001819	synonymous_variant	149233				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity	g.chr1:67724439C>G	AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.1518C>G	1.37:g.67724439C>G		False	False		Somatic	0				IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000395227.1_Silent_p.S251S|IL23R_ENST00000371002.1_3'UTR	p.S506S	NM_144701.2	NP_653302.2	WXS	Illumina HiSeq	Phase_I	Q5VWK5	IL23R_HUMAN			11	1689	+			506					C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Silent	SNP	ENST00000347310.5	37	c.1518C>G	CCDS637.1	.	.	.	.	.	.	.	.	.	.	C	2.832	-0.242526	0.05906	.	.	ENSG00000162594	ENST00000425614	.	.	.	5.71	1.0	0.19881	.	.	.	.	.	T	0.09158	0.0226	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36065	-0.9763	4	.	.	.	-36.091	3.472	0.07570	0.1722:0.4723:0.0:0.3555	.	.	.	.	R	268	.	.	P	+	2	0	IL23R	67497027	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.056000	0.11787	-0.077000	0.12752	0.650000	0.86243	CCT		0.353	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2	0	NM_144701		1:67724439
STOX2	56977	broad.mit.edu	37	4	184932370	184932370	+	Silent	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr4:184932370G>A	ENST00000308497.4	+	3	3814	c.2379G>A	c.(2377-2379)gaG>gaA	p.E793E	STOX2_ENST00000438269.1_Silent_p.E793E	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	793					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CAGAGGAGGAGAAAAATAGAG	0.498																																						ENST00000308497.4		NA																	0				breast(1)|endometrium(7)|lung(6)	14						c.(2377-2379)gaG>gaA		storkhead box 2							46.0	49.0	48.0					4																	184932370		1992	4158	6150	SO:0001819	synonymous_variant	56977				embryo development|maternal placenta development			g.chr4:184932370G>A	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.2379G>A	4.37:g.184932370G>A		True	False		Somatic	0				STOX2_ENST00000438269.1_Silent_p.E793E	p.E793E	NM_020225.1	NP_064610.1	WXS	Illumina HiSeq	Phase_I	Q9P2F5	STOX2_HUMAN		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)	3	3814	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	793					A6H8U4|Q9NPS8	Silent	SNP	ENST00000308497.4	37	c.2379G>A	CCDS47167.1																																																																																				0.498	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	0	NM_020225		4:184932370
KCNA4	3739	broad.mit.edu	37	11	30033513	30033513	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr11:30033513C>T	ENST00000328224.6	-	2	1946	c.713G>A	c.(712-714)gGa>gAa	p.G238E	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	238					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	CAGGCGGCCTCCTGATTGATA	0.483																																						ENST00000328224.6		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(712-714)gGa>gAa		potassium voltage-gated channel, shaker-related subfamily, member 4							94.0	85.0	88.0					11																	30033513		1864	4119	5983	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033513C>T	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.713G>A	11.37:g.30033513C>T	ENSP00000328511:p.Gly238Glu	False	False		Somatic	0					p.G238E	NM_002233.3	NP_002224.1	WXS	Illumina HiSeq	Phase_I	P22459	KCNA4_HUMAN			2	1946	-			238						Missense_Mutation	SNP	ENST00000328224.6	37	c.713G>A	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.291932	0.80914	.	.	ENSG00000182255	ENST00000328224	T	0.81247	-1.47	4.94	4.94	0.65067	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.91898	0.7435	M	0.90870	3.155	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.93827	0.7124	10	0.87932	D	0	.	18.1944	0.89817	0.0:1.0:0.0:0.0	.	238	P22459	KCNA4_HUMAN	E	238	ENSP00000328511:G238E	ENSP00000328511:G238E	G	-	2	0	KCNA4	29990089	1.000000	0.71417	0.985000	0.45067	0.980000	0.70556	7.787000	0.85759	2.297000	0.77311	0.655000	0.94253	GGA		0.483	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	0	NM_002233		11:30033513
KCNA1	3736	broad.mit.edu	37	12	5021099	5021099	+	Silent	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr12:5021099C>T	ENST00000382545.3	+	2	1662	c.555C>T	c.(553-555)tgC>tgT	p.C185C	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	185					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	TCATCTTTTGCCTGGAGACGC	0.582																																						ENST00000382545.3		NA																	0				NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(553-555)tgC>tgT		potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						84.0	80.0	81.0					12																	5021099		2203	4300	6503	SO:0001819	synonymous_variant	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5021099C>T	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.555C>T	12.37:g.5021099C>T		False	False		Somatic	0				KCNA1_ENST00000543874.2_Intron	p.C185C	NM_000217.2	NP_000208.2	WXS	Illumina HiSeq	Phase_I	Q09470	KCNA1_HUMAN			2	1662	+			185					A6NM83|Q3MIQ9	Silent	SNP	ENST00000382545.3	37	c.555C>T	CCDS8535.1																																																																																				0.582	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	0	NM_000217		12:5021099
EVPL	2125	broad.mit.edu	37	17	74014618	74014618	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:74014618C>T	ENST00000301607.3	-	12	1601	c.1348G>A	c.(1348-1350)Gtg>Atg	p.V450M	EVPL_ENST00000586740.1_Missense_Mutation_p.V450M	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	450	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGGCCCTGCACGACCCAGGCG	0.662																																						ENST00000301607.3		NA																	0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(1348-1350)Gtg>Atg		envoplakin							20.0	22.0	21.0					17																	74014618		2203	4299	6502	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74014618C>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.1348G>A	17.37:g.74014618C>T	ENSP00000301607:p.Val450Met	False	False		Somatic	0				EVPL_ENST00000586740.1_Missense_Mutation_p.V450M	p.V450M	NM_001988.2	NP_001979.2	WXS	Illumina HiSeq	Phase_I	Q92817	EVPL_HUMAN			12	1601	-			450			Globular 1.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.1348G>A	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.892323	0.72524	.	.	ENSG00000167880	ENST00000301607	T	0.72167	-0.63	5.12	5.12	0.69794	.	0.138638	0.48286	D	0.000181	D	0.84415	0.5467	M	0.78637	2.42	0.49213	D	0.999762	D;D	0.89917	1.0;1.0	D;D	0.69142	0.96;0.962	D	0.86389	0.1734	10	0.87932	D	0	-42.0999	18.9474	0.92627	0.0:1.0:0.0:0.0	.	450;450	B7ZLH8;Q92817	.;EVPL_HUMAN	M	450	ENSP00000301607:V450M	ENSP00000301607:V450M	V	-	1	0	EVPL	71526213	0.998000	0.40836	0.798000	0.32154	0.603000	0.37013	4.206000	0.58473	2.573000	0.86826	0.561000	0.74099	GTG		0.662	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	0	NM_001988		17:74014618
MUC17	140453	broad.mit.edu	37	7	100692136	100692136	+	Silent	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr7:100692136G>A	ENST00000306151.4	+	5	12610	c.12546G>A	c.(12544-12546)gaG>gaA	p.E4182E		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4182					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGCCACCGGAGACTATCTCTG	0.522																																						ENST00000306151.4		NA																	0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(12544-12546)gaG>gaA		mucin 17, cell surface associated							98.0	88.0	91.0					7																	100692136		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100692136G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.12546G>A	7.37:g.100692136G>A		False	False		Somatic	0					p.E4182E	NM_001040105.1	NP_001035194.1	WXS	Illumina HiSeq	Phase_I	Q685J3	MUC17_HUMAN			5	12610	+	Lung NSC(181;0.136)|all_lung(186;0.182)		4182			SEA.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.12546G>A	CCDS34711.1																																																																																				0.522	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	0	NM_001040105		7:100692136
ADCY3	109	broad.mit.edu	37	2	25051001	25051001	+	Silent	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr2:25051001G>A	ENST00000260600.5	-	13	3053	c.2202C>T	c.(2200-2202)ccC>ccT	p.P734P	ADCY3_ENST00000405392.1_Intron|RP11-443B20.1_ENST00000606114.1_RNA|ADCY3_ENST00000450524.1_5'UTR	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	734					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TTGCATTGCTGGGTCCCGTGT	0.602											OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000260600.5		NA																	0				NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44						c.(2200-2202)ccC>ccT		adenylate cyclase 3							62.0	53.0	56.0					2																	25051001		2203	4300	6503	SO:0001819	synonymous_variant	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25051001G>A	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.2202C>T	2.37:g.25051001G>A		True	False		Somatic	0	OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	776	ADCY3_ENST00000450524.1_5'UTR|ADCY3_ENST00000405392.1_Intron	p.P734P	NM_004036.3	NP_004027.2	WXS	Illumina HiSeq	Phase_I	O60266	ADCY3_HUMAN			13	3053	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		734					B3KT86|Q53T54|Q9UDB1	Silent	SNP	ENST00000260600.5	37	c.2202C>T	CCDS1715.1																																																																																				0.602	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2	0			2:25051001
F5	2153	broad.mit.edu	37	1	169529961	169529961	+	Silent	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:169529961G>A	ENST00000367797.3	-	4	618	c.417C>T	c.(415-417)gaC>gaT	p.D139D	F5_ENST00000546081.1_Silent_p.D2D|F5_ENST00000367796.3_Silent_p.D139D	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	139	F5/8 type A 1.|Plastocyanin-like 1.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CCACAGCGTCGTCCATCTTCT	0.517																																						ENST00000367796.3		NA																	0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(415-417)gaC>gaT		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						148.0	124.0	132.0					1																	169529961		2203	4300	6503	SO:0001819	synonymous_variant	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169529961G>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.417C>T	1.37:g.169529961G>A		False	False		Somatic	0				F5_ENST00000546081.1_Silent_p.D2D|F5_ENST00000367797.3_Silent_p.D139D	p.D139D			WXS	Illumina HiSeq	Phase_I	P12259	FA5_HUMAN			4	618	-	all_hematologic(923;0.208)		139			F5/8 type A 1.|Plastocyanin-like 1.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	c.417C>T	CCDS1281.1																																																																																				0.517	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	0	NM_000130		1:169529961
GSDMD	79792	broad.mit.edu	37	8	144645015	144645015	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr8:144645015A>T	ENST00000526406.1	+	14	2279	c.1396A>T	c.(1396-1398)Atg>Ttg	p.M466L	GSDMD_ENST00000533063.1_Missense_Mutation_p.M514L|GSDMD_ENST00000262580.4_Missense_Mutation_p.M466L	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	466				SGMLVPELAIPVVYLLGALTMLSETQHKLLAEALESQTLLG PLELVGSLLEQSAPWQERSTMSLPPGLLGNSWGEGAPAWVL LDECGLELGEDTPHVCWEPQAQGRMCALYASLALLSGLSQE P -> PECWCRNSLSLLSTCWG (in Ref. 1; AAG22861). {ECO:0000305}.	cellular response to extracellular stimulus (GO:0031668)					breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						CCAGGGCCGCATGTGTGCACT	0.687																																						ENST00000526406.1		NA																	0				breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1396-1398)Atg>Ttg		gasdermin D							35.0	31.0	32.0					8																	144645015		2195	4296	6491	SO:0001583	missense	79792							g.chr8:144645015A>T	AK096216	CCDS34956.1	8q24.3	2008-07-31	2008-07-31	2008-07-31		ENSG00000104518			25697	protein-coding gene	gene with protein product			"""gasdermin domain containing 1"""	GSDMDC1		15289881, 17350798	Standard	NM_024736		Approved	FLJ12150, DF5L	uc003yyg.3	P57764		ENST00000526406.1:c.1396A>T	8.37:g.144645015A>T	ENSP00000433209:p.Met466Leu	True	False		Somatic	0				GSDMD_ENST00000533063.1_Missense_Mutation_p.M514L|GSDMD_ENST00000262580.4_Missense_Mutation_p.M466L	p.M466L	NM_001166237.1	NP_001159709.1	WXS	Illumina HiSeq	Phase_I	P57764	GSDMD_HUMAN			14	2279	+			466	SGMLVPELAIPVVYLLGALTMLSETQHKLLAEALESQTLLG PLELVGSLLEQSAPWQERSTMSLPPGLLGNSWGEGAPAWVL LDECGLELGEDTPHVCWEPQAQGRMCALYASLALLSGLSQE P -> PECWCRNSLSLLSTCWG (in Ref. 1; AAG22861).				D3DWJ9|Q96Q98	Missense_Mutation	SNP	ENST00000526406.1	37	c.1396A>T	CCDS34956.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.958655	0.00465	.	.	ENSG00000104518	ENST00000526406;ENST00000533063;ENST00000262580	T;T;T	0.13657	2.65;2.57;2.65	4.9	-3.65	0.04502	.	0.971022	0.08500	N	0.936553	T	0.02380	0.0073	N	0.00436	-1.5	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.001;0.001;0.002	T	0.44467	-0.9326	10	0.02654	T	1	-4.7448	6.4597	0.21950	0.3686:0.162:0.4693:0.0	.	466;466;514	A8K702;P57764;G3V1A6	.;GSDMD_HUMAN;.	L	466;514;466	ENSP00000433209:M466L;ENSP00000433958:M514L;ENSP00000262580:M466L	ENSP00000262580:M466L	M	+	1	0	GSDMD	144716158	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.066000	0.14489	-0.378000	0.07918	-0.288000	0.09946	ATG		0.687	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382046.3	0	NM_024736		8:144645015
RPA1	6117	broad.mit.edu	37	17	1792037	1792037	+	Silent	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:1792037C>T	ENST00000254719.5	+	14	1553	c.1443C>T	c.(1441-1443)tgC>tgT	p.C481C		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	481					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						ACCAAGCCTGCCCGACTCAGG	0.483								Nucleotide excision repair (NER)																														ENST00000254719.5		NA																	0				breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						c.(1441-1443)tgC>tgT	Nucleotide excision repair (NER)	replication protein A1, 70kDa							132.0	111.0	118.0					17																	1792037		2203	4300	6503	SO:0001819	synonymous_variant	6117				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding	g.chr17:1792037C>T	M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"""replication protein A1 (70kD)"""			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.1443C>T	17.37:g.1792037C>T		True	False		Somatic	0					p.C481C	NM_002945.3	NP_002936.1	WXS	Illumina HiSeq	Phase_I	P27694	RFA1_HUMAN			14	1553	+			481					A8K0Y9|Q59ES9	Silent	SNP	ENST00000254719.5	37	c.1443C>T	CCDS11014.1																																																																																				0.483	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2	0	NM_002945		17:1792037
OR2M4	26245	broad.mit.edu	37	1	248402643	248402643	+	Missense_Mutation	SNP	C	C	T	rs144805988		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:248402643C>T	ENST00000306687.1	+	1	413	c.413C>T	c.(412-414)cCg>cTg	p.P138L		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	138					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)	p.P138L(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTCATGAATCCGAAACTCTGT	0.483													c|||	1	0.000199681	0.0	0.0	5008	,	,		21503	0.0		0.0	False		,,,				2504	0.001					ENST00000306687.1		NA																	1	Substitution - Missense(1)	p.P138L(1)	lung(1)	NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50						c.(412-414)cCg>cTg		olfactory receptor, family 2, subfamily M, member 4		C	LEU/PRO	0,4406		0,0,2203	165.0	138.0	147.0		413	-0.6	0.0	1	dbSNP_134	147	2,8598	2.2+/-6.3	0,2,4298	no	missense	OR2M4	NM_017504.1	98	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	138/312	248402643	2,13004	2203	4300	6503	SO:0001583	missense	26245				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248402643C>T	X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.413C>T	1.37:g.248402643C>T	ENSP00000306688:p.Pro138Leu	False	False		Somatic	0					p.P138L	NM_017504.1	NP_059974.1	WXS	Illumina HiSeq	Phase_I	Q96R27	OR2M4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	413	+	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		138					Q15611|Q8NG82	Missense_Mutation	SNP	ENST00000306687.1	37	c.413C>T	CCDS31108.1	.	.	.	.	.	.	.	.	.	.	c	0.019	-1.462993	0.01062	0.0	2.33E-4	ENSG00000171180	ENST00000306687	T	0.00526	6.8	3.48	-0.649	0.11461	GPCR, rhodopsin-like superfamily (1);	1.195430	0.06309	N	0.702303	T	0.00440	0.0014	L	0.46670	1.46	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43491	-0.9388	10	0.29301	T	0.29	.	2.7909	0.05388	0.294:0.4613:0.097:0.1477	.	138	Q96R27	OR2M4_HUMAN	L	138	ENSP00000306688:P138L	ENSP00000306688:P138L	P	+	2	0	OR2M4	246469266	0.000000	0.05858	0.002000	0.10522	0.039000	0.13416	-0.758000	0.04766	-0.245000	0.09625	-0.414000	0.06135	CCG		0.483	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	0	NM_017504		1:248402643
MAPT	4137	broad.mit.edu	37	17	44060812	44060812	+	Silent	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:44060812C>T	ENST00000571987.1	+	5	642	c.642C>T	c.(640-642)agC>agT	p.S214S	MAPT_ENST00000446361.3_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000344290.5_Silent_p.S214S|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000262410.5_Silent_p.S214S|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000415613.2_Silent_p.S214S|MAPT_ENST00000334239.8_Intron			P10636	TAU_HUMAN	microtubule-associated protein tau	214					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	GGCCGGGGAGCAAGGAGGAGG	0.687																																						ENST00000344290.5		NA																	0				breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(640-642)agC>agT		microtubule-associated protein tau							33.0	23.0	26.0					17																	44060812		2201	4300	6501	SO:0001819	synonymous_variant	4137				cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton	g.chr17:44060812C>T	J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.642C>T	17.37:g.44060812C>T		False	False		Somatic	0				MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000571987.1_Silent_p.S214S|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000415613.2_Silent_p.S214S|MAPT_ENST00000262410.5_Silent_p.S214S|MAPT_ENST00000431008.3_Intron	p.S214S	NM_001123066.3	NP_001116538.2	WXS	Illumina HiSeq	Phase_I	P10636	TAU_HUMAN			6	964	+		Melanoma(429;0.216)	214					P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Silent	SNP	ENST00000571987.1	37	c.642C>T	CCDS11501.1																																																																																				0.687	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	0	NM_016835		17:44060812
HERC2P3	283755	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463																																						ENST00000428453.1		NA																	4	Substitution - Missense(4)	p.A803V(4)	lung(3)|endometrium(1)	central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															116.0	62.0	82.0					15																	20644850		1509	2699	4208			0							g.chr15:20644850G>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20644850G>A		True	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	3097	-			NA						RNA	SNP	ENST00000428453.1	37																																																																																						0.463	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	0	NG_008269		15:20644850
DDHD2	23259	broad.mit.edu	37	8	38107250	38107250	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr8:38107250C>G	ENST00000397166.2	+	11	1798	c.1273C>G	c.(1273-1275)Cag>Gag	p.Q425E	DDHD2_ENST00000517385.1_Missense_Mutation_p.Q44E|DDHD2_ENST00000529845.1_5'Flank|DDHD2_ENST00000528888.1_3'UTR|DDHD2_ENST00000520272.2_Missense_Mutation_p.Q425E	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	425	SAM.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.Q425K(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			CCGAGATCTTCAGGAAATAGG	0.368																																						ENST00000397166.2		NA																	1	Substitution - Missense(1)	p.Q425K(1)	lung(1)	endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28						c.(1273-1275)Cag>Gag		DDHD domain containing 2							69.0	67.0	68.0					8																	38107250		2203	4300	6503	SO:0001583	missense	23259				lipid catabolic process	centrosome	hydrolase activity|metal ion binding	g.chr8:38107250C>G	AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"""Sterile alpha motif (SAM) domain containing"""	29106	protein-coding gene	gene with protein product		615003	"""SAM, WWE and DDHD domain containing 1"""	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.1273C>G	8.37:g.38107250C>G	ENSP00000380352:p.Gln425Glu	False	False		Somatic	0				DDHD2_ENST00000517385.1_Missense_Mutation_p.Q44E|DDHD2_ENST00000528888.1_3'UTR|DDHD2_ENST00000520272.2_Missense_Mutation_p.Q425E	p.Q425E	NM_015214.2	NP_056029.2	WXS	Illumina HiSeq	Phase_I	O94830	DDHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)		11	1798	+	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	425			SAM.		B3KWV2|B3KXB5|Q9H8X7	Missense_Mutation	SNP	ENST00000397166.2	37	c.1273C>G	CCDS34883.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.453824	0.43531	.	.	ENSG00000085788	ENST00000397166;ENST00000520272;ENST00000440212;ENST00000517385	T;T;T	0.44881	0.91;0.91;0.91	5.5	5.5	0.81552	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.113509	0.64402	D	0.000015	T	0.28333	0.0700	L	0.39147	1.195	0.80722	D	1	B;B	0.10296	0.003;0.001	B;B	0.12837	0.008;0.006	T	0.10132	-1.0643	10	0.02654	T	1	-18.2805	9.4121	0.38498	0.2626:0.6029:0.1345:0.0	.	237;425	B4DSR3;O94830	.;DDHD2_HUMAN	E	425;425;237;44	ENSP00000380352:Q425E;ENSP00000429932:Q425E;ENSP00000429017:Q44E	ENSP00000380352:Q425E	Q	+	1	0	DDHD2	38226407	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.445000	0.52921	2.744000	0.94065	0.655000	0.94253	CAG		0.368	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2	0	XM_291291		8:38107250
PTCHD2	57540	broad.mit.edu	37	1	11561268	11561268	+	Missense_Mutation	SNP	T	T	G			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:11561268T>G	ENST00000294484.6	+	2	357	c.219T>G	c.(217-219)tgT>tgG	p.C73W	PTCHD2_ENST00000389575.3_Missense_Mutation_p.C73W	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	73					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		ATCCGTGCTGTGCTGGGCTGG	0.627																																						ENST00000294484.6		NA																	0				NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76						c.(217-219)tgT>tgG		patched domain containing 2							80.0	82.0	81.0					1																	11561268		2099	4220	6319	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11561268T>G	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.219T>G	1.37:g.11561268T>G	ENSP00000294484:p.Cys73Trp	True	False		Somatic	0				PTCHD2_ENST00000389575.3_Missense_Mutation_p.C73W	p.C73W	NM_020780.1	NP_065831.1	WXS	Illumina HiSeq	Phase_I	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	2	357	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	73					Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.219T>G	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	T	17.23	3.335812	0.60853	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	T;T	0.26223	1.75;1.75	5.91	-8.89	0.00785	.	0.141145	0.47455	U	0.000239	T	0.26122	0.0637	N	0.24115	0.695	0.50039	D	0.999844	D	0.63880	0.993	P	0.55923	0.787	T	0.53865	-0.8378	10	0.87932	D	0	-15.4806	20.8583	0.99727	0.0:0.6554:0.0:0.3446	.	73	Q9P2K9	PTHD2_HUMAN	W	73	ENSP00000294484:C73W;ENSP00000374226:C73W	ENSP00000294484:C73W	C	+	3	2	PTCHD2	11483855	0.014000	0.17966	0.389000	0.26208	0.982000	0.71751	-1.193000	0.03049	-1.737000	0.01350	-0.250000	0.11733	TGT		0.627	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	0	XM_052561		1:11561268
SMAD4	4089	broad.mit.edu	37	18	48584787	48584787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr18:48584787C>T	ENST00000342988.3	+	7	1403	c.865C>T	c.(865-867)Cag>Tag	p.Q289*	SMAD4_ENST00000398417.2_Nonsense_Mutation_p.Q289*|SMAD4_ENST00000588745.1_Intron	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	289	SAD.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)|p.Q289*(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CGGCCATCTTCAGCACCACCC	0.463																																						ENST00000342988.3		NA																	39	Whole gene deletion(36)|Unknown(2)|Substitution - Nonsense(1)	p.0?(36)|p.?(2)|p.Q289*(1)	pancreas(26)|stomach(3)|lung(3)|breast(3)|large_intestine(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(865-867)Cag>Tag		SMAD family member 4							106.0	93.0	98.0					18																	48584787		2203	4300	6503	SO:0001587	stop_gained	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48584787C>T	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.865C>T	18.37:g.48584787C>T	ENSP00000341551:p.Gln289*	False	False		Somatic	0				SMAD4_ENST00000588745.1_Intron|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.Q289*	p.Q289*	NM_005359.5	NP_005350.1	WXS	Illumina HiSeq	Phase_I	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	7	1403	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	289			SAD.		A8K405	Nonsense_Mutation	SNP	ENST00000342988.3	37	c.865C>T	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	41	8.836430	0.98972	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	19.6509	0.95805	0.0:1.0:0.0:0.0	.	.	.	.	X	289	.	ENSP00000341551:Q289X	Q	+	1	0	SMAD4	46838785	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.603000	0.82811	2.941000	0.99782	0.655000	0.94253	CAG		0.463	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	0	NM_005359		18:48584787
RANBP2	5903	broad.mit.edu	37	2	109367844	109367844	+	Missense_Mutation	SNP	T	T	G			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr2:109367844T>G	ENST00000283195.6	+	10	1524	c.1398T>G	c.(1396-1398)caT>caG	p.H466Q		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	466					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.H466Q(6)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTTGCCCCATGAAACCTCAA	0.358																																						ENST00000283195.6		NA																RANBP2/ALK(34)	6	Substitution - Missense(6)	p.H466Q(6)	endometrium(6)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(1396-1398)caT>caG		RAN binding protein 2							69.0	78.0	75.0					2																	109367844		1510	2703	4213	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109367844T>G	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1398T>G	2.37:g.109367844T>G	ENSP00000283195:p.His466Gln	False	False		Somatic	0					p.H466Q	NM_006267.4	NP_006258.3	WXS	Illumina HiSeq	Phase_I	P49792	RBP2_HUMAN			10	1524	+			466					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.1398T>G	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	2.180	-0.387877	0.04932	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	D	0.82526	-1.62	5.25	2.44	0.29823	.	.	.	.	.	T	0.43545	0.1252	N	0.00197	-1.87	0.20563	N	0.999888	B	0.02656	0.0	B	0.01281	0.0	T	0.50039	-0.8874	9	0.02654	T	1	-0.0972	5.4961	0.16804	0.3195:0.0:0.5396:0.1409	.	466	P49792	RBP2_HUMAN	Q	466	ENSP00000283195:H466Q	ENSP00000283195:H466Q	H	+	3	2	RANBP2	108734276	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.307000	0.43682	0.319000	0.23209	-0.127000	0.14921	CAT		0.358	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	0	NM_006267		2:109367844
NUP50	10762	broad.mit.edu	37	22	45580351	45580351	+	Missense_Mutation	SNP	G	G	A	rs563414031	byFrequency	TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr22:45580351G>A	ENST00000347635.4	+	8	1688	c.1222G>A	c.(1222-1224)Gtt>Att	p.V408I	NUP50_ENST00000396096.2_Missense_Mutation_p.V380I|NUP50_ENST00000407019.2_Missense_Mutation_p.V380I|NUP50_ENST00000425733.2_Missense_Mutation_p.V158I	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	408	RanBD1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intracellular transport (GO:0046907)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		ATTGCTGAACGTTCTGATTCC	0.393													.|||	2	0.000399361	0.0008	0.0	5008	,	,		14224	0.001		0.0	False		,,,				2504	0.0					ENST00000347635.4		NA																	0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9						c.(1222-1224)Gtt>Att		nucleoporin 50kDa							98.0	82.0	87.0					22																	45580351		2203	4300	6503	SO:0001583	missense	10762				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding	g.chr22:45580351G>A	AF107840	CCDS14062.1, CCDS14063.1	22q13.3	2007-01-22	2002-08-29		ENSG00000093000	ENSG00000093000			8065	protein-coding gene	gene with protein product		604646	"""nucleoporin 50kD"""	NPAP60L		10449902	Standard	XM_005261312		Approved		uc003bfr.3	Q9UKX7	OTTHUMG00000151265	ENST00000347635.4:c.1222G>A	22.37:g.45580351G>A	ENSP00000345895:p.Val408Ile	False	False		Somatic	0				NUP50_ENST00000407019.2_Missense_Mutation_p.V380I|NUP50_ENST00000425733.2_Missense_Mutation_p.V158I|NUP50_ENST00000396096.2_Missense_Mutation_p.V380I	p.V408I	NM_007172.3	NP_009103.2	WXS	Illumina HiSeq	Phase_I	Q9UKX7	NUP50_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	8	1688	+		Ovarian(80;0.00965)|all_neural(38;0.0244)	NA			RanBD1.		B1AHA4|B2RB15|O75644|Q8N6V5|Q9NPM9|Q9NPR6|Q9P1K5	Missense_Mutation	SNP	ENST00000347635.4	37	c.1222G>A	CCDS14062.1	.	.	.	.	.	.	.	.	.	.	G	3.527	-0.096540	0.07010	.	.	ENSG00000093000	ENST00000347635;ENST00000407019;ENST00000425733;ENST00000396096	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.61	3.54	0.40534	Pleckstrin homology-type (1);Ran binding protein 1 (3);	0.172748	0.51477	N	0.000084	T	0.15435	0.0372	N	0.01473	-0.845	0.35957	D	0.834318	B	0.02656	0.0	B	0.12156	0.007	T	0.09907	-1.0653	10	0.20519	T	0.43	-17.1865	8.726	0.34469	0.2845:0.0:0.7155:0.0	.	408	Q9UKX7	NUP50_HUMAN	I	408;380;158;380	ENSP00000345895:V408I;ENSP00000385555:V380I;ENSP00000406928:V158I;ENSP00000379403:V380I	ENSP00000345895:V408I	V	+	1	0	NUP50	43959015	1.000000	0.71417	0.040000	0.18447	0.925000	0.55904	3.592000	0.53993	0.849000	0.35215	0.655000	0.94253	GTT		0.393	NUP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321993.2	0			22:45580351
KRBA1	84626	broad.mit.edu	37	7	149431136	149431136	+	Nonstop_Mutation	SNP	A	A	G			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr7:149431136A>G	ENST00000485033.2	+	15	2910	c.2910A>G	c.(2908-2910)tgA>tgG	p.*970W	KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Nonstop_Mutation_p.*970W|KRBA1_ENST00000255992.10_Nonstop_Mutation_p.*1030W			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	0	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGGCGCATTGATGGCATTCCT	0.662																																						ENST00000255992.10		NA																	0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27						c.(3088-3090)tgA>tgG		KRAB-A domain containing 1							14.0	16.0	16.0					7																	149431136		2036	4176	6212	SO:0001578	stop_lost	84626							g.chr7:149431136A>G	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"""-"""	22228	protein-coding gene	gene with protein product			"""KRAB A domain containing 1"""				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.2910A>G	7.37:g.149431136A>G	ENSP00000420112:p.*970Trpext*115	False	False		Somatic	0				KRBA1_ENST00000319551.8_Nonstop_Mutation_p.*970W|KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000485033.2_Nonstop_Mutation_p.*970W	p.*1030W	NM_032534.2	NP_115923.2	WXS	Illumina HiSeq	Phase_I	A5PL33	KRBA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		18	3489	+	Melanoma(164;0.165)|Ovarian(565;0.177)		0					A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Nonstop_Mutation	SNP	ENST00000485033.2	37	c.3090A>G		.	.	.	.	.	.	.	.	.	.	A	1.730	-0.494361	0.04322	.	.	ENSG00000133619	ENST00000255992;ENST00000319551;ENST00000485033	.	.	.	4.48	-4.96	0.03038	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8325	0.52303	0.4242:0.0:0.5758:0.0	.	.	.	.	W	1030;970;970	.	.	X	+	3	0	KRBA1	149062069	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.962000	0.03841	-0.871000	0.04042	0.533000	0.62120	TGA		0.662	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3	0	NM_032534		7:149431136
RRN3P2	653390	broad.mit.edu	37	16	29110438	29110438	+	RNA	SNP	T	T	C			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr16:29110438T>C	ENST00000564580.1	+	0	1111							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.L368P(6)									TTGCAGTATCTTCAGAGTCTG	0.328																																						ENST00000564580.1		NA																	6	Substitution - Missense(6)	p.L368P(6)	endometrium(5)|kidney(1)		NA																																														0							g.chr16:29110438T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110438T>C		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	1111	+			NA						RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	t	5.164	0.215759	0.09810	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	U	0.000008	T	0.52645	0.1747	.	.	.	.	.	.	.	.	.	.	.	.	T	0.63580	-0.6605	5	0.56958	D	0.05	.	7.5159	0.27600	0.0:0.0:0.0:1.0	.	.	.	.	P	368	.	ENSP00000398611:L368P	L	+	2	0	AC009093.1	29017939	1.000000	0.71417	0.752000	0.31206	0.354000	0.29330	6.384000	0.73177	0.893000	0.36288	0.155000	0.16302	CTT		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	0	NR_003369		16:29110438
LATS2	26524	broad.mit.edu	37	13	21562295	21562295	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr13:21562295G>T	ENST00000382592.4	-	4	2029	c.1624C>A	c.(1624-1626)Cag>Aag	p.Q542K	LATS2_ENST00000542899.1_Missense_Mutation_p.Q542K|LATS2_ENST00000472754.1_5'Flank	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CGGAGGCTCTGCTCCATGCCT	0.657																																						ENST00000382592.4		NA																	0				breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45						c.(1624-1626)Cag>Aag		large tumor suppressor kinase 2							62.0	63.0	63.0					13																	21562295		2203	4300	6503	SO:0001583	missense	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21562295G>T	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.1624C>A	13.37:g.21562295G>T	ENSP00000372035:p.Gln542Lys	False	False		Somatic	0				LATS2_ENST00000542899.1_Missense_Mutation_p.Q542K	p.Q542K	NM_014572.2	NP_055387.2	WXS	Illumina HiSeq	Phase_I	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	4	2029	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	542						Missense_Mutation	SNP	ENST00000382592.4	37	c.1624C>A	CCDS9294.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592668	0.46214	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.58652	0.32;0.32	5.12	5.12	0.69794	.	0.189519	0.37577	N	0.002035	T	0.46288	0.1385	N	0.22421	0.69	0.45979	D	0.998794	P	0.47762	0.9	B	0.40940	0.344	T	0.42172	-0.9467	10	0.30854	T	0.27	.	18.8138	0.92070	0.0:0.0:1.0:0.0	.	542	Q9NRM7	LATS2_HUMAN	K	542	ENSP00000372035:Q542K;ENSP00000441817:Q542K	ENSP00000372035:Q542K	Q	-	1	0	LATS2	20460295	1.000000	0.71417	1.000000	0.80357	0.391000	0.30476	4.679000	0.61649	2.691000	0.91804	0.549000	0.68633	CAG		0.657	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1	0			13:21562295
MFHAS1	9258	broad.mit.edu	37	8	8748773	8748773	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr8:8748773G>A	ENST00000276282.6	-	1	2382	c.1796C>T	c.(1795-1797)tCg>tTg	p.S599L		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	599	Roc. {ECO:0000255|PROSITE- ProRule:PRU00758}.									endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		GTTCTTGTCCGAAACGCCATA	0.642																																					Melanoma(103;1201 2045 17515 28966)	ENST00000276282.6		NA																	0				endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21						c.(1795-1797)tCg>tTg		malignant fibrous histiocytoma amplified sequence 1							63.0	56.0	58.0					8																	8748773		2203	4300	6503	SO:0001583	missense	9258							g.chr8:8748773G>A	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"""leucine rich repeat containing 65"", ""malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"""	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.1796C>T	8.37:g.8748773G>A	ENSP00000276282:p.Ser599Leu	True	False		Somatic	0					p.S599L	NM_004225.2	NP_004216.2	WXS	Illumina HiSeq	Phase_I	Q9Y4C4	MFHA1_HUMAN		COAD - Colon adenocarcinoma(149;0.124)	1	2382	-		Hepatocellular(245;0.217)	599			Roc.		Q96CI0	Missense_Mutation	SNP	ENST00000276282.6	37	c.1796C>T	CCDS34844.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249044	0.59103	.	.	ENSG00000147324	ENST00000276282	T	0.37235	1.21	5.28	5.28	0.74379	ROC GTPase (1);	0.172306	0.38837	N	0.001551	T	0.41166	0.1147	L	0.61218	1.895	0.50039	D	0.999841	D	0.62365	0.991	P	0.45558	0.485	T	0.42120	-0.9470	10	0.72032	D	0.01	.	13.7779	0.63066	0.0:0.1534:0.8466:0.0	.	599	Q9Y4C4	MFHA1_HUMAN	L	599	ENSP00000276282:S599L	ENSP00000276282:S599L	S	-	2	0	MFHAS1	8786183	1.000000	0.71417	0.386000	0.26170	0.938000	0.57974	4.486000	0.60286	2.736000	0.93811	0.655000	0.94253	TCG		0.642	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	0	NM_004225		8:8748773
TP53	7157	broad.mit.edu	37	17	7578433	7578433	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:7578433G>T	ENST00000269305.4	-	5	686	c.497C>A	c.(496-498)tCa>tAa	p.S166*	TP53_ENST00000455263.2_Nonsense_Mutation_p.S166*|TP53_ENST00000359597.4_Nonsense_Mutation_p.S166*|TP53_ENST00000413465.2_Nonsense_Mutation_p.S166*|TP53_ENST00000445888.2_Nonsense_Mutation_p.S166*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Nonsense_Mutation_p.S166*	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	166	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		S -> A (in sporadic cancers; somatic mutation).|S -> G (in a sporadic cancer; somatic mutation).|S -> L (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (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.S166*(25)|p.0?(8)|p.S166L(4)|p.Q167fs*14(4)|p.S34*(2)|p.S73*(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.P151_V173del23(1)|p.Q165_S166insYKQ(1)|p.Q165_M169delQSQHM(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.S166G(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)	CATGTGCTGTGACTGCTTGTA	0.632		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"""		56	Substitution - Nonsense(29)|Whole gene deletion(8)|Deletion - Frameshift(5)|Substitution - Missense(5)|Deletion - In frame(4)|Insertion - Frameshift(4)|Insertion - In frame(1)	p.S166*(25)|p.0?(8)|p.S166L(4)|p.Q167fs*14(4)|p.S34*(2)|p.S73*(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.P151_V173del23(1)|p.Q165_S166insYKQ(1)|p.Q165_M169delQSQHM(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.S166G(1)	lung(18)|breast(7)|upper_aerodigestive_tract(4)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|large_intestine(3)|central_nervous_system(3)|oesophagus(3)|liver(3)|stomach(2)|urinary_tract(2)|ovary(2)|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.(496-498)tCa>tAa	Other conserved DNA damage response genes	tumor protein p53							54.0	54.0	54.0					17																	7578433		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7578433G>T	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.497C>A	17.37:g.7578433G>T	ENSP00000269305:p.Ser166*	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_ENST00000455263.2_Nonsense_Mutation_p.S166*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Nonsense_Mutation_p.S166*|TP53_ENST00000413465.2_Nonsense_Mutation_p.S166*|TP53_ENST00000359597.4_Nonsense_Mutation_p.S166*|TP53_ENST00000269305.4_Nonsense_Mutation_p.S166*	p.S166*	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)	5	629	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	166		S -> A (in sporadic cancers; somatic mutation).|S -> G (in a sporadic cancer; somatic mutation).|S -> L (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.497C>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.721457	0.48728	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.59	4.63	0.57726	.	0.284727	0.34002	N	0.004360	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.3004	12.6801	0.56916	0.0803:0.0:0.9197:0.0	.	.	.	.	X	166;166;166;166;166;166;155;73;34;73;34	.	ENSP00000269305:S166X	S	-	2	0	TP53	7519158	0.909000	0.30893	0.776000	0.31678	0.112000	0.19704	4.756000	0.62205	1.513000	0.48852	0.655000	0.94253	TCA		0.632	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7578433
ATP2B2	491	broad.mit.edu	37	3	10443850	10443850	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr3:10443850C>T	ENST00000352432.4	-	3	649	c.580G>A	c.(580-582)Gtg>Atg	p.V194M	ATP2B2_ENST00000397077.1_Missense_Mutation_p.V194M|ATP2B2_ENST00000360273.2_Missense_Mutation_p.V194M|ATP2B2_ENST00000343816.4_Missense_Mutation_p.V194M|ATP2B2_ENST00000383800.4_Missense_Mutation_p.V194M			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	194					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GCCCGGACCACGGTAAATTTC	0.567																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1		NA																	0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(580-582)Gtg>Atg		ATPase, Ca++ transporting, plasma membrane 2							136.0	148.0	144.0					3																	10443850		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10443850C>T	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.580G>A	3.37:g.10443850C>T	ENSP00000324172:p.Val194Met	False	False		Somatic	0				ATP2B2_ENST00000383800.4_Missense_Mutation_p.V194M|ATP2B2_ENST00000352432.4_Missense_Mutation_p.V194M|ATP2B2_ENST00000360273.2_Missense_Mutation_p.V194M|ATP2B2_ENST00000343816.4_Missense_Mutation_p.V194M	p.V194M			WXS	Illumina HiSeq	Phase_I	Q01814	AT2B2_HUMAN			6	1155	-			194					O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.580G>A	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	C	31	5.076585	0.94000	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.95001	-3.58;-3.58;-3.58;-3.58;-3.58;-3.58	5.44	5.44	0.79542	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.98585	0.9527	H	0.98525	4.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.993;0.997	D	0.99643	1.0989	10	0.87932	D	0	-29.579	19.2768	0.94034	0.0:1.0:0.0:0.0	.	194;206;194	Q01814-7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	M	194;194;194;194;194;160;81;194	ENSP00000324172:V194M;ENSP00000373311:V194M;ENSP00000380267:V194M;ENSP00000353414:V194M;ENSP00000344677:V194M;ENSP00000414854:V81M	ENSP00000342954:V194M	V	-	1	0	ATP2B2	10418850	1.000000	0.71417	0.950000	0.38849	0.951000	0.60555	6.066000	0.71185	2.550000	0.86006	0.467000	0.42956	GTG		0.567	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	0	NM_001683		3:10443850
GPR133	283383	broad.mit.edu	37	12	131471825	131471825	+	Missense_Mutation	SNP	G	G	T	rs377562590		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr12:131471825G>T	ENST00000261654.5	+	6	1235	c.676G>T	c.(676-678)Gat>Tat	p.D226Y	GPR133_ENST00000535015.1_Missense_Mutation_p.D258Y|RP11-76C10.5_ENST00000542980.1_lincRNA	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	226					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CGGTGCTTTCGATGAGTTCAT	0.542																																						ENST00000261654.5		NA																	0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(676-678)Gat>Tat		G protein-coupled receptor 133							153.0	142.0	146.0					12																	131471825		2203	4300	6503	SO:0001583	missense	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131471825G>T	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.676G>T	12.37:g.131471825G>T	ENSP00000261654:p.Asp226Tyr	False	False		Somatic	0				GPR133_ENST00000535015.1_Missense_Mutation_p.D258Y	p.D226Y	NM_198827.3	NP_942122.2	WXS	Illumina HiSeq	Phase_I	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	6	1235	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		226					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.676G>T	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355239	0.61293	.	.	ENSG00000111452	ENST00000261654;ENST00000542091;ENST00000535015	D;D;D	0.82803	-1.65;-1.65;-1.65	4.46	4.46	0.54185	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.92688	0.7676	M	0.91818	3.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94367	0.7592	10	0.66056	D	0.02	.	16.1186	0.81325	0.0:0.0:1.0:0.0	.	258;226	B7ZLF7;Q6QNK2	.;GP133_HUMAN	Y	226;166;258	ENSP00000261654:D226Y;ENSP00000442501:D166Y;ENSP00000444425:D258Y	ENSP00000261654:D226Y	D	+	1	0	GPR133	130037778	1.000000	0.71417	0.280000	0.24747	0.426000	0.31534	8.703000	0.91344	2.024000	0.59613	0.591000	0.81541	GAT		0.542	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	0	NM_198827		12:131471825
SDK1	221935	broad.mit.edu	37	7	4259748	4259748	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr7:4259748C>G	ENST00000404826.2	+	39	5686	c.5547C>G	c.(5545-5547)agC>agG	p.S1849R	SDK1_ENST00000389531.3_Missense_Mutation_p.S1829R	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1849	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CAGGGGTGAGCAAGGTGGTGA	0.572																																						ENST00000404826.2		NA																	0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(5545-5547)agC>agG		sidekick cell adhesion molecule 1							73.0	74.0	74.0					7																	4259748		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4259748C>G	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.5547C>G	7.37:g.4259748C>G	ENSP00000385899:p.Ser1849Arg	False	False		Somatic	0				SDK1_ENST00000389531.3_Missense_Mutation_p.S1829R	p.S1849R	NM_152744.3	NP_689957.3	WXS	Illumina HiSeq	Phase_I	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	39	5686	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1849			Fibronectin type-III 12.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.5547C>G	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.108140	0.56291	.	.	ENSG00000146555	ENST00000404826;ENST00000446104;ENST00000389531	T;T	0.58358	0.34;0.34	5.28	5.28	0.74379	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74253	0.3692	M	0.89904	3.07	0.44352	D	0.997247	D;P;D	0.58620	0.983;0.604;0.962	D;P;D	0.66602	0.945;0.517;0.933	T	0.78981	-0.1989	10	0.87932	D	0	.	10.8802	0.46933	0.0:0.8536:0.0:0.1464	.	1829;336;1849	F8W6X9;F2Z3E9;Q7Z5N4	.;.;SDK1_HUMAN	R	1849;97;1829	ENSP00000385899:S1849R;ENSP00000374182:S1829R	ENSP00000374182:S1829R	S	+	3	2	SDK1	4226274	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.082000	0.30803	2.623000	0.88846	0.650000	0.86243	AGC		0.572	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	0	NM_152744		7:4259748
LIN54	132660	broad.mit.edu	37	4	83891489	83891489	+	Silent	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr4:83891489C>T	ENST00000340417.3	-	4	1319	c.942G>A	c.(940-942)tcG>tcA	p.S314S	LIN54_ENST00000395283.2_Intron|LIN54_ENST00000506560.1_Intron|LIN54_ENST00000446851.2_Silent_p.S93S|LIN54_ENST00000505397.1_Silent_p.S314S|LIN54_ENST00000510557.1_Silent_p.S93S|LIN54_ENST00000442461.2_Silent_p.S93S|LIN54_ENST00000395282.2_3'UTR	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 DREAM MuvB core complex component	314					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				CCTTATTTGGCGATTTCAAAG	0.308																																						ENST00000340417.3		NA																	0				breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14						c.(940-942)tcG>tcA		lin-54 homolog (C. elegans)							170.0	172.0	171.0					4																	83891489		2203	4300	6503	SO:0001819	synonymous_variant	132660				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr4:83891489C>T	BX537919	CCDS3599.1, CCDS47089.1, CCDS75157.1	4q21.22	2014-07-17	2014-07-17		ENSG00000189308	ENSG00000189308			25397	protein-coding gene	gene with protein product	"""CXC domain containing 1"""	613367	"""lin-54 homolog (C. elegans)"""			21498570	Standard	XM_005262749		Approved	MIP120, DKFZp686L1814, JC8.6, CXCDC1	uc003hnx.3	Q6MZP7	OTTHUMG00000130287	ENST00000340417.3:c.942G>A	4.37:g.83891489C>T		False	False		Somatic	0				LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000442461.2_Silent_p.S93S|LIN54_ENST00000510557.1_Silent_p.S93S|LIN54_ENST00000506560.1_Intron|LIN54_ENST00000395283.2_Intron|LIN54_ENST00000505397.1_Silent_p.S314S|LIN54_ENST00000446851.2_Silent_p.S93S	p.S314S	NM_194282.2	NP_919258.2	WXS	Illumina HiSeq	Phase_I	Q6MZP7	LIN54_HUMAN			4	1319	-		Hepatocellular(203;0.114)	314					Q32M68|Q32M69|Q6N071|Q76B60	Silent	SNP	ENST00000340417.3	37	c.942G>A	CCDS3599.1																																																																																				0.308	LIN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252626.2	0	NM_194282		4:83891489
GMDS	2762	broad.mit.edu	37	6	2116094	2116094	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr6:2116094C>T	ENST00000380815.4	-	4	525	c.256G>A	c.(256-258)Gat>Aat	p.D86N	GMDS_ENST00000530927.1_Missense_Mutation_p.D56N	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	86					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401)		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TCAGTGAGATCGCCATAGTGC	0.383																																						ENST00000380815.4		NA																GMDS/PDE8B(2)	0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21						c.(256-258)Gat>Aat		GDP-mannose 4,6-dehydratase							161.0	149.0	153.0					6																	2116094		2203	4300	6503	SO:0001583	missense	2762				'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity	g.chr6:2116094C>T	AF042377	CCDS4474.1, CCDS58994.1	6p25	2011-09-14			ENSG00000112699	ENSG00000112699	4.2.1.47	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	4369	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 3E, member 1"""	602884				9525924, 19027726	Standard	NM_001500		Approved	GMD, SDR3E1	uc003mtq.3	O60547	OTTHUMG00000016143	ENST00000380815.4:c.256G>A	6.37:g.2116094C>T	ENSP00000370194:p.Asp86Asn	False	False		Somatic	0				GMDS_ENST00000530927.1_Missense_Mutation_p.D56N	p.D86N	NM_001500.3	NP_001491.1	WXS	Illumina HiSeq	Phase_I	O60547	GMDS_HUMAN		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)	4	525	-	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)	86					E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9	Missense_Mutation	SNP	ENST00000380815.4	37	c.256G>A	CCDS4474.1	.	.	.	.	.	.	.	.	.	.	C	34	5.384293	0.95967	.	.	ENSG00000112699	ENST00000530927;ENST00000380815	D;D	0.95756	-3.8;-3.8	5.64	5.64	0.86602	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98520	0.9506	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99289	1.0898	10	0.87932	D	0	-17.6903	19.7154	0.96115	0.0:1.0:0.0:0.0	.	86	O60547	GMDS_HUMAN	N	56;86	ENSP00000436726:D56N;ENSP00000370194:D86N	ENSP00000370194:D86N	D	-	1	0	GMDS	2061093	1.000000	0.71417	0.952000	0.39060	0.987000	0.75469	7.487000	0.81328	2.664000	0.90586	0.655000	0.94253	GAT		0.383	GMDS-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043380.3	0			6:2116094
CD38	952	broad.mit.edu	37	4	15835859	15835859	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr4:15835859C>G	ENST00000226279.3	+	4	656	c.519C>G	c.(517-519)tgC>tgG	p.C173W		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	173					apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|female pregnancy (GO:0007565)|long term synaptic depression (GO:0060292)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone resorption (GO:0045779)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hydroperoxide (GO:0033194)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|phosphorus-oxygen lyase activity (GO:0016849)|transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						ATCAATCTTGCCCAGACTGGA	0.398																																						ENST00000226279.3		NA																	0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						c.(517-519)tgC>tgG		CD38 molecule							89.0	87.0	88.0					4																	15835859		2203	4300	6503	SO:0001583	missense	952				B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity	g.chr4:15835859C>G	D84276	CCDS3417.1	4p15.32	2010-05-04	2006-03-28		ENSG00000004468	ENSG00000004468	3.2.2.5	"""CD molecules"""	1667	protein-coding gene	gene with protein product	"""ADP-ribosyl cyclase 1"", ""NAD(+) nucleosidase"""	107270	"""CD38 antigen (p45)"""			9074508, 2319135	Standard	NM_001775		Approved		uc003gol.1	P28907	OTTHUMG00000048206	ENST00000226279.3:c.519C>G	4.37:g.15835859C>G	ENSP00000226279:p.Cys173Trp	True	False		Somatic	0					p.C173W	NM_001775.2	NP_001766.2	WXS	Illumina HiSeq	Phase_I	P28907	CD38_HUMAN			4	656	+			NA					O00121|O00122|Q96HY4	Missense_Mutation	SNP	ENST00000226279.3	37	c.519C>G	CCDS3417.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.27|10.27	1.303571|1.303571	0.23736|0.23736	.|.	.|.	ENSG00000004468|ENSG00000004468	ENST00000540195|ENST00000226279;ENST00000510674	.|T;T	.|0.43294	.|0.95;0.95	5.4|5.4	-0.153|-0.153	0.13403|0.13403	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.63745|0.63745	0.2537|0.2537	M|M	0.88105|0.88105	2.93|2.93	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.64521|0.64521	-0.6388|-0.6388	6|10	0.66056|0.87932	D|D	0.02|0	-26.4774|-26.4774	8.6688|8.6688	0.34137|0.34137	0.0:0.5589:0.0:0.4411|0.0:0.5589:0.0:0.4411	.|.	.|173	.|P28907	.|CD38_HUMAN	G|W	128|173;61	.|ENSP00000226279:C173W;ENSP00000423047:C61W	ENSP00000442176:A128G|ENSP00000226279:C173W	A|C	+|+	2|3	0|2	CD38|CD38	15444957|15444957	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.042000|0.042000	0.13812|0.13812	0.525000|0.525000	0.22956|0.22956	-0.035000|-0.035000	0.13691|0.13691	-0.157000|-0.157000	0.13467|0.13467	GCC|TGC		0.398	CD38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250322.2	0	NM_001775		4:15835859
HNRNPA1	3178	broad.mit.edu	37	12	54675182	54675182	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr12:54675182C>T	ENST00000340913.6	+	2	81	c.28C>T	c.(28-30)Ccc>Tcc	p.P10S	CBX5_ENST00000209875.4_5'Flank|RP11-968A15.2_ENST00000547177.1_RNA|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.P10S|HNRNPA1_ENST00000546500.1_Missense_Mutation_p.P10S|RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000547276.1_Missense_Mutation_p.P10S	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	10	Globular A domain.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|nuclear export (GO:0051168)|nuclear import (GO:0051170)|RNA export from nucleus (GO:0006405)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						TCCTAAAGAGCCCGAACAGCT	0.488																																					Colon(83;502 1289 8436 16406 24870)	ENST00000546500.1		NA																	0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(28-30)Ccc>Tcc		heterogeneous nuclear ribonucleoprotein A1							75.0	79.0	78.0					12																	54675182		1942	4176	6118	SO:0001583	missense	3178				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding	g.chr12:54675182C>T	BC009600	CCDS41793.1, CCDS44909.1	12q13.1	2013-10-11		2007-08-16	ENSG00000135486	ENSG00000135486		"""RNA binding motif (RRM) containing"""	5031	protein-coding gene	gene with protein product		164017		HNRPA1		1733858	Standard	XR_245923		Approved	hnRNPA1, hnRNP-A1	uc001sfl.3	P09651		ENST00000340913.6:c.28C>T	12.37:g.54675182C>T	ENSP00000341826:p.Pro10Ser	True	False		Somatic	0				HNRNPA1_ENST00000547276.1_Missense_Mutation_p.P10S|RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.P10S|HNRNPA1_ENST00000340913.6_Missense_Mutation_p.P10S	p.P10S			WXS	Illumina HiSeq	Phase_I	P09651	ROA1_HUMAN			2	643	+			10			Globular A domain.		A8K4Z8|Q3MIB7|Q6PJZ7	Missense_Mutation	SNP	ENST00000340913.6	37	c.28C>T	CCDS44909.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701605	0.88924	.	.	ENSG00000135486	ENST00000546500;ENST00000547708;ENST00000547617;ENST00000552494;ENST00000340913;ENST00000330752;ENST00000552591;ENST00000551702;ENST00000551133;ENST00000547276;ENST00000548688	D;D;D;D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37;-2.37;-2.37;-2.37	4.43	4.43	0.53597	.	0.000000	0.50627	D	0.000115	D	0.89167	0.6638	L	0.33189	0.99	0.54753	D	0.999987	D;D;P;B;D;D	0.58620	0.96;0.98;0.952;0.168;0.98;0.983	P;P;P;B;P;P	0.56278	0.575;0.716;0.575;0.191;0.716;0.795	D	0.90171	0.4235	10	0.59425	D	0.04	.	15.3753	0.74598	0.0:1.0:0.0:0.0	.	10;10;10;10;10;10	F8VRQ1;F8W6I7;F8VSB5;P09651-3;P09651-2;P09651	.;.;.;.;.;ROA1_HUMAN	S	10;10;10;10;10;10;10;10;10;10;29	ENSP00000448617:P10S;ENSP00000448229:P10S;ENSP00000341826:P10S;ENSP00000333504:P10S;ENSP00000448117:P10S;ENSP00000447260:P10S;ENSP00000447782:P29S	ENSP00000333504:P10S	P	+	1	0	HNRNPA1	52961449	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.705000	0.84606	2.407000	0.81776	0.491000	0.48974	CCC		0.488	HNRNPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405480.1	0	NM_031157		12:54675182
RAG1	5896	broad.mit.edu	37	11	36595189	36595189	+	Missense_Mutation	SNP	G	G	A	rs4151026		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr11:36595189G>A	ENST00000299440.5	+	2	447	c.335G>A	c.(334-336)cGc>cAc	p.R112H		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	112	Interaction with importin alpha-1.				adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R112L(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CATCTCTGCCGCATCTGTGGG	0.453									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5		NA																	1	Substitution - Missense(1)	p.R112L(1)	lung(1)	NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65						c.(334-336)cGc>cAc		recombination activating gene 1							111.0	106.0	107.0					11																	36595189		2202	4298	6500	SO:0001583	missense	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36595189G>A	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.335G>A	11.37:g.36595189G>A	ENSP00000299440:p.Arg112His	False	False		Somatic	0					p.R112H	NM_000448.2	NP_000439	WXS	Illumina HiSeq	Phase_I	P15918	RAG1_HUMAN			2	447	+	all_lung(20;0.226)	all_hematologic(20;0.107)	112			Interaction with importin alpha-1.		E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.335G>A	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	32	5.146608	0.94603	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.74737	-0.87;-0.87	6.14	6.14	0.99180	.	0.000000	0.85682	D	0.000000	D	0.89976	0.6871	M	0.91090	3.175	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.90685	0.4608	10	0.87932	D	0	.	20.8597	0.99761	0.0:0.0:1.0:0.0	.	112	P15918	RAG1_HUMAN	H	112	ENSP00000434610:R112H;ENSP00000299440:R112H	ENSP00000299440:R112H	R	+	2	0	RAG1	36551765	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	8.856000	0.92245	2.937000	0.99478	0.650000	0.86243	CGC		0.453	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	0	NM_000448		11:36595189
NWD1	284434	broad.mit.edu	37	19	16910925	16910925	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr19:16910925C>T	ENST00000552788.1	+	15	3688	c.3688C>T	c.(3688-3690)Ccc>Tcc	p.P1230S	NWD1_ENST00000339803.6_Missense_Mutation_p.P1095S|NWD1_ENST00000549814.1_Missense_Mutation_p.P1188S|NWD1_ENST00000379808.3_Missense_Mutation_p.P1230S|NWD1_ENST00000524140.2_Missense_Mutation_p.P1230S|CTD-2538G9.6_ENST00000601661.1_RNA|NWD1_ENST00000523826.1_Missense_Mutation_p.P1024S			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1230							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CGTCTACTTCCCCAAAATTGG	0.512																																						ENST00000524140.2		NA																	0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(3688-3690)Ccc>Tcc		NACHT and WD repeat domain containing 1							89.0	78.0	82.0					19																	16910925		2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16910925C>T	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3688C>T	19.37:g.16910925C>T	ENSP00000447224:p.Pro1230Ser	True	False		Somatic	0				NWD1_ENST00000552788.1_Missense_Mutation_p.P1230S|NWD1_ENST00000379808.3_Missense_Mutation_p.P1230S|NWD1_ENST00000339803.6_Missense_Mutation_p.P1095S|NWD1_ENST00000523826.1_Missense_Mutation_p.P1024S|NWD1_ENST00000549814.1_Missense_Mutation_p.P1188S	p.P1230S	NM_001007525.3	NP_001007526.3	WXS	Illumina HiSeq	Phase_I	Q149M9	NWD1_HUMAN			17	4106	+			1230					C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.3688C>T		.	.	.	.	.	.	.	.	.	.	C	20.3	3.959887	0.74016	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.70045	0.55;-0.45;0.55;2.27;1.74;2.27	5.35	5.35	0.76521	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.156902	0.43579	D	0.000556	T	0.68091	0.2963	N	0.12569	0.235	0.37668	D	0.923031	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.994	T	0.71836	-0.4472	10	0.33141	T	0.24	-35.9247	16.6115	0.84884	0.0:1.0:0.0:0.0	.	1230;1230;1095	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	S	1095;1230;1188;1230;1024;1230;1095	ENSP00000428579:P1230S;ENSP00000447548:P1188S;ENSP00000369136:P1230S;ENSP00000428955:P1024S;ENSP00000447224:P1230S;ENSP00000340159:P1095S	ENSP00000340159:P1095S	P	+	1	0	NWD1	16771925	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	2.938000	0.48987	2.520000	0.84964	0.650000	0.86243	CCC		0.512	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	0	NM_001007525		19:16910925
PHEX	5251	broad.mit.edu	37	X	22117217	22117217	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chrX:22117217G>A	ENST00000379374.4	+	9	1592	c.1027G>A	c.(1027-1029)Gtc>Atc	p.V343I	PHEX_ENST00000537599.1_Missense_Mutation_p.V343I|PHEX_ENST00000535894.1_Missense_Mutation_p.V246I|PHEX_ENST00000475778.1_3'UTR|PHEX_ENST00000418858.3_Missense_Mutation_p.V46I	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	343					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						GGTGGTCCGCGTCCCGCAGTA	0.443																																						ENST00000379374.4		NA																	0				breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1027-1029)Gtc>Atc		phosphate regulating endopeptidase homolog, X-linked							115.0	105.0	109.0					X																	22117217		2203	4300	6503	SO:0001583	missense	5251				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	g.chrX:22117217G>A	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.1027G>A	X.37:g.22117217G>A	ENSP00000368682:p.Val343Ile	False	False		Somatic	0				PHEX_ENST00000418858.3_Missense_Mutation_p.V46I|PHEX_ENST00000475778.1_3'UTR|PHEX_ENST00000535894.1_Missense_Mutation_p.V246I|PHEX_ENST00000537599.1_Missense_Mutation_p.V343I	p.V343I	NM_000444.4	NP_000435.3	WXS	Illumina HiSeq	Phase_I	P78562	PHEX_HUMAN			9	1592	+			343					O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	ENST00000379374.4	37	c.1027G>A	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.801058	0.90538	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894;ENST00000418858	T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78	5.46	5.46	0.80206	Peptidase M13 (1);	0.109879	0.64402	D	0.000008	T	0.71592	0.3358	L	0.39147	1.195	0.45995	D	0.998802	D;D	0.56746	0.977;0.964	B;P	0.44860	0.332;0.462	T	0.75836	-0.3177	10	0.62326	D	0.03	.	18.3838	0.90459	0.0:0.0:1.0:0.0	.	343;343	F5GXU4;P78562	.;PHEX_HUMAN	I	343;343;246;46	ENSP00000368682:V343I;ENSP00000440362:V343I;ENSP00000439418:V246I;ENSP00000443531:V46I	ENSP00000368682:V343I	V	+	1	0	PHEX	22027138	1.000000	0.71417	0.843000	0.33291	0.944000	0.59088	7.562000	0.82300	2.282000	0.76494	0.529000	0.55759	GTC		0.443	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	0	NM_000444		X:22117217
ZFHX4	79776	broad.mit.edu	37	8	77763870	77763870	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr8:77763870A>T	ENST00000521891.2	+	10	5161	c.4713A>T	c.(4711-4713)aaA>aaT	p.K1571N	ZFHX4_ENST00000050961.6_Missense_Mutation_p.K1526N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.K1545N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.K1526N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1526					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGCTGAAAAAAGTTTTGCAGG	0.413										HNSCC(33;0.089)																												ENST00000521891.2		NA																	0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(4711-4713)aaA>aaT		zinc finger homeobox 4							42.0	40.0	41.0					8																	77763870		1913	4136	6049	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77763870A>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4713A>T	8.37:g.77763870A>T	ENSP00000430497:p.Lys1571Asn	True	False	HNSCC(33;0.089)	Somatic	0				ZFHX4_ENST00000050961.6_Missense_Mutation_p.K1526N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.K1545N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.K1526N	p.K1571N	NM_024721.4	NP_078997.4	WXS	Illumina HiSeq	Phase_I	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	5161	+			1526					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.4713A>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	11.15	1.555228	0.27739	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.56444	0.46;0.51;0.47;0.47	4.6	0.728	0.18260	Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.000000	0.46442	U	0.000298	T	0.63022	0.2476	L	0.57536	1.79	0.58432	D	0.999996	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.83275	0.991;0.996;0.996	T	0.60782	-0.7195	10	0.56958	D	0.05	.	8.7254	0.34467	0.4063:0.0:0.5937:0.0	.	1526;1526;1571	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	N	1571;1571;1526;1526;1545	ENSP00000430497:K1571N;ENSP00000399605:K1526N;ENSP00000050961:K1526N;ENSP00000430848:K1545N	ENSP00000050961:K1526N	K	+	3	2	ZFHX4	77926425	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	0.862000	0.27899	0.260000	0.21731	-0.375000	0.07067	AAA		0.413	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	0	NM_024721		8:77763870
PCDHB7	56129	broad.mit.edu	37	5	140554386	140554386	+	Missense_Mutation	SNP	C	C	T	rs558696629		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr5:140554386C>T	ENST00000231137.3	+	1	2144	c.1970C>T	c.(1969-1971)aCg>aTg	p.T657M	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	657	Cadherin 6. {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)	p.T657M(1)		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)			GCCACCGCCACGCTGCACGTG	0.706													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19506	0.0		0.0	False		,,,				2504	0.0					ENST00000231137.3		NA																	1	Substitution - Missense(1)	p.T657M(1)	endometrium(1)	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.(1969-1971)aCg>aTg									30.0	48.0	42.0					5																	140554386		2135	4229	6364	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554386C>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.1970C>T	5.37:g.140554386C>T	ENSP00000231137:p.Thr657Met	False	False		Somatic	0					p.T657M	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	2144	+			657			Cadherin 6.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.1970C>T	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.667450	0.47677	.	.	ENSG00000113212	ENST00000231137	T	0.55588	0.51	3.98	3.98	0.46160	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.62792	0.2457	M	0.80332	2.49	0.21967	N	0.999445	D	0.54397	0.966	P	0.49953	0.627	T	0.58244	-0.7670	9	0.66056	D	0.02	.	10.9109	0.47108	0.0:0.9049:0.0:0.0951	.	657	Q9Y5E2	PCDB7_HUMAN	M	657	ENSP00000231137:T657M	ENSP00000231137:T657M	T	+	2	0	PCDHB7	140534570	0.004000	0.15560	0.993000	0.49108	0.665000	0.39181	1.710000	0.37920	1.922000	0.55676	0.449000	0.29647	ACG		0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	0	NM_018940		5:140554386
SPARCL1	8404	broad.mit.edu	37	4	88412840	88412840	+	Silent	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr4:88412840G>A	ENST00000282470.6	-	5	1691	c.1221C>T	c.(1219-1221)gcC>gcT	p.A407A	SPARCL1_ENST00000418378.1_Silent_p.A407A|SPARCL1_ENST00000503414.1_Silent_p.A282A	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	407					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		CTGCTTTCTTGGCCTTTAGAA	0.393																																						ENST00000418378.1		NA																	0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21						c.(1219-1221)gcC>gcT		SPARC-like 1 (hevin)							211.0	174.0	186.0					4																	88412840		2203	4300	6503	SO:0001819	synonymous_variant	8404				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	g.chr4:88412840G>A	X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"""EF-hand domain containing"""	11220	protein-coding gene	gene with protein product		606041	"""SPARC-like 1 (mast9, hevin)"""			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.1221C>T	4.37:g.88412840G>A		False	False		Somatic	0				SPARCL1_ENST00000503414.1_Silent_p.A282A|SPARCL1_ENST00000282470.6_Silent_p.A407A	p.A407A	NM_001128310.1	NP_001121782.1	WXS	Illumina HiSeq	Phase_I	Q14515	SPRL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00118)	6	1792	-			407					B4E2Z0|E7ESU2|Q14800	Silent	SNP	ENST00000282470.6	37	c.1221C>T	CCDS3622.1																																																																																				0.393	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2	0			4:88412840
PHB	5245	broad.mit.edu	37	17	47482526	47482526	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:47482526C>T	ENST00000300408.3	-	7	719	c.647G>A	c.(646-648)gGc>gAc	p.G216D	RP11-1079K10.4_ENST00000506504.3_RNA|RP11-81K2.1_ENST00000576461.1_Intron|PHB_ENST00000511832.1_Intron|PHB_ENST00000508009.1_5'Flank	NM_001281496.1|NM_001281715.1|NM_002634.2	NP_001268425.1|NP_001268644.1|NP_002625.1	P35232	PHB_HUMAN	prohibitin	216					cellular response to interleukin-6 (GO:0071354)|DNA replication (GO:0006260)|histone deacetylation (GO:0016575)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone receptor signaling pathway (GO:0050847)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|transcription regulatory region DNA binding (GO:0044212)			endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			CTTGGAGTCGCCCTCAGCAGA	0.562																																						ENST00000300408.3		NA																	0				endometrium(4)|large_intestine(2)|lung(4)	10						c.(646-648)gGc>gAc		prohibitin							32.0	29.0	30.0					17																	47482526		2203	4300	6503	SO:0001583	missense	5245				cellular response to interleukin-6|DNA replication|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis	integral to plasma membrane|mitochondrial inner membrane|nucleoplasm	histone deacetylase binding|transcription regulatory region DNA binding	g.chr17:47482526C>T		CCDS11548.1, CCDS62244.1	17q21	2010-11-25			ENSG00000167085	ENSG00000167085			8912	protein-coding gene	gene with protein product		176705				10376528, 8244394	Standard	NM_001281496		Approved	PHB1	uc002iox.1	P35232	OTTHUMG00000134271	ENST00000300408.3:c.647G>A	17.37:g.47482526C>T	ENSP00000300408:p.Gly216Asp	True	False		Somatic	0				RP11-1079K10.4_ENST00000506504.3_RNA|RP11-81K2.1_ENST00000576461.1_Intron|PHB_ENST00000511832.1_Intron	p.G216D	NM_001281496.1|NM_001281715.1|NM_002634.2	NP_001268425.1|NP_001268644.1|NP_002625.1	WXS	Illumina HiSeq	Phase_I	P35232	PHB_HUMAN	Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		7	719	-	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		216					B4DY47|Q4VBQ0	Missense_Mutation	SNP	ENST00000300408.3	37	c.647G>A	CCDS11548.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315333	0.81358	.	.	ENSG00000167085	ENST00000300408;ENST00000419140	.	.	.	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.87378	0.6162	H	0.96518	3.835	0.80722	D	1	D	0.64830	0.994	D	0.66716	0.946	D	0.91374	0.5122	9	0.87932	D	0	.	18.1606	0.89707	0.0:1.0:0.0:0.0	.	216	P35232	PHB_HUMAN	D	216	.	ENSP00000300408:G216D	G	-	2	0	PHB	44837525	1.000000	0.71417	0.993000	0.49108	0.386000	0.30323	7.588000	0.82629	2.602000	0.87976	0.655000	0.94253	GGC		0.562	PHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258826.1	0	NM_002634		17:47482526
UMOD	7369	broad.mit.edu	37	16	20355441	20355441	+	Silent	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr16:20355441G>A	ENST00000570689.1	-	6	1382	c.1236C>T	c.(1234-1236)atC>atT	p.I412I	UMOD_ENST00000396134.2_Silent_p.I445I|UMOD_ENST00000570331.1_5'Flank|UMOD_ENST00000396142.2_Silent_p.I412I|UMOD_ENST00000396138.4_Silent_p.I461I|UMOD_ENST00000302509.4_Silent_p.I412I|UMOD_ENST00000424589.1_Silent_p.I445I			P07911	UROM_HUMAN	uromodulin	412	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CACGGATGATGATCTCATCTG	0.537																																						ENST00000396134.2		NA																	0				endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1333-1335)atC>atT		uromodulin							174.0	145.0	155.0					16																	20355441		2203	4300	6503	SO:0001819	synonymous_variant	7369				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	g.chr16:20355441G>A	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1236C>T	16.37:g.20355441G>A		True	False		Somatic	0				UMOD_ENST00000570689.1_Silent_p.I412I|UMOD_ENST00000424589.1_Silent_p.I445I|UMOD_ENST00000396138.4_Silent_p.I461I|UMOD_ENST00000302509.4_Silent_p.I412I|UMOD_ENST00000396142.2_Silent_p.I412I	p.I445I	NM_001278614.1	NP_001265543.1	WXS	Illumina HiSeq	Phase_I	P07911	UROM_HUMAN			7	1458	-			412			ZP.		B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Silent	SNP	ENST00000570689.1	37	c.1335C>T	CCDS10583.1																																																																																				0.537	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1	0			16:20355441
OBSCN	84033	broad.mit.edu	37	1	228525760	228525760	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:228525760G>A	ENST00000422127.1	+	67	16960	c.16916G>A	c.(16915-16917)cGc>cAc	p.R5639H	OBSCN_ENST00000366707.4_Missense_Mutation_p.R3273H|OBSCN_ENST00000570156.2_Missense_Mutation_p.R6596H|OBSCN_ENST00000284548.11_Missense_Mutation_p.R5639H|OBSCN_ENST00000366709.4_Missense_Mutation_p.R2758H	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5639	SH3.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CACCCACTGCGCTGGCTTGTC	0.642																																						ENST00000570156.2		NA																	0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(19786-19788)cGc>cAc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							28.0	30.0	29.0					1																	228525760		2162	4262	6424	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228525760G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.16916G>A	1.37:g.228525760G>A	ENSP00000409493:p.Arg5639His	False	False		Somatic	0				OBSCN_ENST00000366707.4_Missense_Mutation_p.R3273H|OBSCN_ENST00000284548.11_Missense_Mutation_p.R5639H|OBSCN_ENST00000366709.4_Missense_Mutation_p.R2758H|OBSCN_ENST00000422127.1_Missense_Mutation_p.R5639H	p.R6596H	NM_001271223.2	NP_001258152.2	WXS	Illumina HiSeq	Phase_I	Q5VST9	OBSCN_HUMAN			78	19861	+		Prostate(94;0.0405)	5639			Protein kinase 1.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.19787G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.159631	0.78226	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	4.35	2.47	0.30058	Src homology-3 domain (2);	0.296783	0.25143	N	0.032814	T	0.19805	0.0476	N	0.19112	0.55	0.31810	N	0.627308	B;B	0.21381	0.033;0.055	B;B	0.16722	0.007;0.016	T	0.11036	-1.0604	10	0.66056	D	0.02	.	4.4143	0.11448	0.4487:0.0:0.5513:0.0	.	5639;5639	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	H	5639;5639;3273;2758	ENSP00000284548:R5639H;ENSP00000409493:R5639H;ENSP00000355668:R3273H;ENSP00000355670:R2758H	ENSP00000284548:R5639H	R	+	2	0	OBSCN	226592383	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	5.978000	0.70501	1.202000	0.43218	0.491000	0.48974	CGC		0.642	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		0	NM_052843		1:228525760
HSPA8	3312	broad.mit.edu	37	11	122929855	122929855	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr11:122929855A>G	ENST00000532636.1	-	6	1354	c.1235T>C	c.(1234-1236)gTc>gCc	p.V412A	SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000526110.1_Missense_Mutation_p.V393A|HSPA8_ENST00000227378.3_Missense_Mutation_p.V412A|SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000534319.1_Missense_Mutation_p.V176A|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000533540.1_Missense_Mutation_p.V266A|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000534624.1_Missense_Mutation_p.V412A|HSPA8_ENST00000453788.2_Missense_Mutation_p.V412A			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	412					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CTTGATGAGGACAGTCATGAC	0.453																																					Colon(21;486 594 5900 6733 14272)	ENST00000534624.1		NA																	0				breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36						c.(1234-1236)gTc>gCc		heat shock 70kDa protein 8							127.0	114.0	118.0					11																	122929855		2202	4299	6501	SO:0001583	missense	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122929855A>G	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.1235T>C	11.37:g.122929855A>G	ENSP00000437125:p.Val412Ala	False	False		Somatic	0				HSPA8_ENST00000533540.1_Missense_Mutation_p.V266A|HSPA8_ENST00000526110.1_Missense_Mutation_p.V393A|HSPA8_ENST00000534319.1_Missense_Mutation_p.V176A|HSPA8_ENST00000532636.1_Missense_Mutation_p.V412A|HSPA8_ENST00000227378.3_Missense_Mutation_p.V412A|HSPA8_ENST00000453788.2_Missense_Mutation_p.V412A	p.V412A	NM_006597.4	NP_006588.1	WXS	Illumina HiSeq	Phase_I	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	6	1511	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	412					Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	c.1235T>C	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	A	1.596	-0.527894	0.04112	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000524552	T;T;T;T;T;T;T;T	0.00932	5.53;5.53;5.53;5.53;5.53;5.53;5.53;5.53	4.85	4.85	0.62838	.	0.073163	0.52532	D	0.000068	T	0.00875	0.0029	N	0.26092	0.79	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.09377	0.004;0.001;0.004	T	0.46034	-0.9220	10	0.02654	T	1	-23.4681	14.7123	0.69241	1.0:0.0:0.0:0.0	.	412;412;412	Q53GZ6;P11142-2;P11142	.;.;HSP7C_HUMAN	A	412;266;412;412;412;176;393;3	ENSP00000437125:V412A;ENSP00000437189:V266A;ENSP00000432083:V412A;ENSP00000404372:V412A;ENSP00000227378:V412A;ENSP00000433316:V176A;ENSP00000433584:V393A;ENSP00000435908:V3A	ENSP00000227378:V412A	V	-	2	0	HSPA8	122435065	0.998000	0.40836	0.932000	0.37286	0.060000	0.15804	3.668000	0.54554	1.935000	0.56089	0.459000	0.35465	GTC		0.453	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1	0			11:122929855
