#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_IsAdjacentToRepeatRegion	i_IsMicroSat	i_MUTSIG_Published_Results	i_Mutation_Status	i_NumberOfSatRepeats	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_is_in_m2pon	i_refseq_mrna_id	i_secondary_variant_classification	i_site
RBM4	5936	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000409406.1	+	2	1633_1653	c.856_876delGCTGCTGCTGCAGCAGCAGCC	c.(856-876)gctgctgctgcagcagcagccdel	p.AAAAAAA286del	RBM4_ENST00000506523.2_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000412278.2_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000578778.1_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000398692.4_Intron			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	286	Interaction with TNPO3.|Poly-Ala.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615																																						ENST00000412278.2		NA																	0					NA						c.(781-801)gctgctgctgcagcagcagccdel																																						SO:0001651	inframe_deletion	0							g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.856_876delGCTGCTGCTGCAGCAGCAGCC	11.37:g.66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENSP00000386894:p.Ala286_Ala292del	True	False		Somatic	1				RBM4_ENST00000578778.1_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000530235.1_Intron	p.AAAAAAA261del	NM_001198845.1	NP_001185774.1	WXS	Illumina HiSeq	Phase_I					2	876_896	+			NA					B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	In_Frame_Del	DEL	ENST00000409406.1	37	c.781_801delGCTGCTGCTGCAGCAGCAGCC	CCDS41676.1																																																																																				0.615	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	0	NM_002896		11:66411364
DNM1L	10059	broad.mit.edu	37	12	32861115	32861117	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	AAG	AAG	-	-	AAG	AAG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:32861115_32861117delAAG	ENST00000549701.1	+	4	400_402	c.326_328delAAG	c.(325-330)caagaa>caa	p.E110del	DNM1L_ENST00000548671.1_3'UTR|Y_RNA_ENST00000364693.1_RNA|DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000381000.4_In_Frame_Del_p.E123del|DNM1L_ENST00000358214.5_In_Frame_Del_p.E123del|DNM1L_ENST00000266481.6_In_Frame_Del_p.E110del|DNM1L_ENST00000547312.1_In_Frame_Del_p.E110del|DNM1L_ENST00000553257.1_In_Frame_Del_p.E123del|DNM1L_ENST00000452533.2_In_Frame_Del_p.E110del			O00429	DNM1L_HUMAN	dynamin 1-like	110	Dynamin-type G.|GTPase domain.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GAAATTCGACAAGAAATTGAAAA	0.291																																						ENST00000452533.2		NA																	0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23						c.(325-330)caagaa>caa		dynamin 1-like																																				SO:0001651	inframe_deletion	10059				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr12:32861115_32861117delAAG	AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.326_328delAAG	12.37:g.32861115_32861117delAAG	ENSP00000450399:p.Glu110del	False	False		Somatic	1				DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000549701.1_In_Frame_Del_p.E110del|DNM1L_ENST00000381000.4_In_Frame_Del_p.E123del|DNM1L_ENST00000266481.6_In_Frame_Del_p.E110del|DNM1L_ENST00000548671.1_3'UTR|DNM1L_ENST00000358214.5_In_Frame_Del_p.E123del|DNM1L_ENST00000553257.1_In_Frame_Del_p.E123del|DNM1L_ENST00000547312.1_In_Frame_Del_p.E110del	p.E110del	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	WXS	Illumina HiSeq	Phase_I	O00429	DNM1L_HUMAN			4	490_492	+	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		110			GTPase domain.		A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	In_Frame_Del	DEL	ENST00000549701.1	37	c.326_328delAAG	CCDS8729.1																																																																																				0.291	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	0	NM_012062		12:32861115
KMT2D	8085	broad.mit.edu	37	12	49445039	49445092	+	In_Frame_Del	DEL	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-	rs564275104|rs201778313|rs368323505		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-	-	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:49445039_49445092delCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	ENST00000301067.7	-	10	2373_2426	c.2374_2427delGCTGAGGGACCACATCTGTCCCCTCAGCCTGAGGAATTGCACCTGTCCCCCCAG	c.(2374-2427)gctgagggaccacatctgtcccctcagcctgaggaattgcacctgtccccccagdel	p.AEGPHLSPQPEELHLSPQ792del		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	792	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	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)										GCTCCTCAGTCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGCCTGGGGGGAC	0.638																																						ENST00000301067.7		NA																	0					NA						c.(2374-2427)gctgagggaccacatctgtcccctcagcctgaggaattgcacctgtccccccagdel		lysine (K)-specific methyltransferase 2D																																				SO:0001651	inframe_deletion	8085							g.chr12:49445039_49445092delCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	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.2374_2427delGCTGAGGGACCACATCTGTCCCCTCAGCCTGAGGAATTGCACCTGTCCCCCCAG	12.37:g.49445039_49445092delCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	ENSP00000301067:p.Ala792_Gln809del	False	False		Somatic	1					p.AEGPHLSPQPEELHLSPQ792del	NM_003482.3	NP_003473.3	WXS	Illumina HiSeq	Phase_I					10	2373_2426	-			NA					O14687	In_Frame_Del	DEL	ENST00000301067.7	37	c.2374_2427delGCTGAGGGACCACATCTGTCCCCTCAGCCTGAGGAATTGCACCTGTCCCCCCAG	CCDS44873.1																																																																																				0.638	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2	0			12:49445039
NFE2	4778	broad.mit.edu	37	12	54687147	54687148	+	Frame_Shift_Ins	INS	-	-	TATGTGAAAATATTTAGCCATGTTCTTGTTCTTCTAGCTA			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:54687147_54687148insTATGTGAAAATATTTAGCCATGTTCTTGTTCTTCTAGCTA	ENST00000540264.2	-	2	641_642	c.132_133insTAGCTAGAAGAACAAGAACATGGCTAAATATTTTCACATA	c.(130-135)agtgagfs	p.E45fs	NFE2_ENST00000435572.2_Frame_Shift_Ins_p.E45fs|NFE2_ENST00000553070.1_Frame_Shift_Ins_p.E45fs|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000312156.4_Frame_Shift_Ins_p.E45fs			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	45	Required for interaction with MAPK8. {ECO:0000250}.|Transactivation domain.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|hemostasis (GO:0007599)|labyrinthine layer blood vessel development (GO:0060716)|multicellular organismal development (GO:0007275)|negative regulation of bone mineralization (GO:0030502)|negative regulation of syncytium formation by plasma membrane fusion (GO:0034242)|nucleosome disassembly (GO:0006337)|positive regulation of peptidyl-lysine acetylation (GO:2000758)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						AATGATGGCTCACTTGGAGCAT	0.51																																						ENST00000540264.2		NA																	0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						c.(130-135)agtgagfs		nuclear factor, erythroid 2																																				SO:0001589	frameshift_variant	4778				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding	g.chr12:54687147_54687148insTATGTGAAAATATTTAGCCATGTTCTTGTTCTTCTAGCTA	BC005044	CCDS8876.1	12q13	2013-08-23	2013-08-23			ENSG00000123405		"""basic leucine zipper proteins"""	7780	protein-coding gene	gene with protein product		601490	"""nuclear factor (erythroid-derived 2), 45kD"", ""nuclear factor (erythroid-derived 2), 45kDa"""			8355703	Standard	NM_001136023		Approved	NF-E2	uc001sfr.5	Q16621		ENST00000540264.2:c.132_133insTAGCTAGAAGAACAAGAACATGGCTAAATATTTTCACATA	12.37:g.54687147_54687148insTATGTGAAAATATTTAGCCATGTTCTTGTTCTTCTAGCTA	ENSP00000439120:p.Glu45fs	False	False		Somatic	0				NFE2_ENST00000553070.1_Frame_Shift_Ins_p.E45fs|NFE2_ENST00000312156.4_Frame_Shift_Ins_p.E45fs|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000435572.2_Frame_Shift_Ins_p.E45fs	p.E45fs			WXS	Illumina HiSeq	Phase_I	Q16621	NFE2_HUMAN			2	641_642	-			45			Required for interaction with MAPK8 (By similarity).|Transactivation domain.		Q07720|Q6ICV9	Frame_Shift_Ins	INS	ENST00000540264.2	37	c.132_133insTAGCTAGAAGAACAAGAACATGGCTAAATATTTTCACATA	CCDS8876.1																																																																																				0.510	NFE2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405747.1	0	NM_006163		12:54687147
LCE2A	353139	broad.mit.edu	37	1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	rs188756601|rs61812671|rs544324398|rs142857579|rs61812672|rs200927371|rs369853646|rs575236034	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization (GO:0031424)			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661																																						ENST00000368779.1		NA																	3	Deletion - In frame(2)|Substitution - coding silent(1)	p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)	liver(2)|large_intestine(1)	breast(1)|large_intestine(1)|liver(2)|lung(4)	8						c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc		late cornified envelope 2A																																				SO:0001651	inframe_deletion	353139				keratinization			g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG		CCDS1021.1	1q21.3	2008-02-05			ENSG00000187173	ENSG00000187173		"""Late cornified envelopes"""	29469	protein-coding gene	gene with protein product		612609				11698679	Standard	NM_178428		Approved	LEP9	uc001faj.3	Q5TA79	OTTHUMG00000012392	ENST00000368779.1:c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	1.37:g.152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENSP00000357768:p.Ser47_Cys60del	False	False		Somatic	1					p.SSGGCCGSSSGGCC47del	NM_178428.3	NP_848515.1	WXS	Illumina HiSeq	Phase_I	Q5TA79	LCE2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	189_230	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		47			Cys-rich.		A4QMZ9	In_Frame_Del	DEL	ENST00000368779.1	37	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CCDS1021.1																																																																																				0.661	LCE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034512.1	0	NM_178428		1:152671515
NCOA3	8202	broad.mit.edu	37	20	46279833	46279834	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr20:46279833_46279834delGC	ENST00000371998.3	+	20	3950_3951	c.3759_3760delGC	c.(3757-3762)cagcaafs	p.QQ1253fs	NCOA3_ENST00000341724.6_Frame_Shift_Del_p.QQ1179fs|NCOA3_ENST00000372004.3_Frame_Shift_Del_p.QQ1249fs|NCOA3_ENST00000371997.3_Frame_Shift_Del_p.QQ1244fs			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagca	0.55																																						ENST00000372004.3		NA																	0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3745-3750)cagcaafs		nuclear receptor coactivator 3																																				SO:0001589	frameshift_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279833_46279834delGC	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3759_3760delGC	20.37:g.46279833_46279834delGC	ENSP00000361066:p.Gln1253fs	True	False		Somatic	1				NCOA3_ENST00000371998.3_Frame_Shift_Del_p.QQ1253fs|NCOA3_ENST00000371997.3_Frame_Shift_Del_p.QQ1244fs|NCOA3_ENST00000341724.6_Frame_Shift_Del_p.QQ1179fs	p.QQ1249fs	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	WXS	Illumina HiSeq	Phase_I	Q9Y6Q9	NCOA3_HUMAN			20	3963_3964	+			1253		Missing.	Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Frame_Shift_Del	DEL	ENST00000371998.3	37	c.3747_3748delGC	CCDS13407.1																																																																																				0.550	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	0	NM_006534		20:46279833
MN1	4330	broad.mit.edu	37	22	28194913	28194945	+	In_Frame_Del	DEL	TGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC	TGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC	-	rs552250669|rs373314940|rs71194738|rs45480998|rs34890218|rs45463091|rs570740760|rs572936881|rs138620107|rs45597040	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	TGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC	TGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC	-	-	TGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC	TGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr22:28194913_28194945delTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC	ENST00000302326.4	-	1	2541_2573	c.1587_1619delGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCA	c.(1585-1620)cagcagcagcagcaacagcagcagcagcagcagcaa>caa	p.529_540QQQQQQQQQQQQ>Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	529	Poly-Gln.				intramembranous ossification (GO:0001957)			p.Q550_R551insQ(1)|p.Q532Q(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						ctgttgctgttgctgctgctgctgctgctgttgctgctgctgctgctgctgct	0.661			T	ETV6	"""AML, meningioma"""																																	ENST00000302326.4		NA		Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		"""AML, meningioma"""		2	Insertion - In frame(1)|Substitution - coding silent(1)	p.Q550_R551insQ(1)|p.Q532Q(1)	prostate(2)	NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(1585-1620)cagcagcagcagcaacagcagcagcagcagcagcaa>caa		meningioma (disrupted in balanced translocation) 1																																				SO:0001651	inframe_deletion	4330						binding	g.chr22:28194913_28194945delTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1587_1619delGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCA	22.37:g.28194913_28194945delTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC	ENSP00000304956:p.Gln540_Gln550del	True	False		Somatic	1					p.529_540QQQQQQQQQQQQ>Q	NM_002430.2	NP_002421.3	WXS	Illumina HiSeq	Phase_I	Q10571	MN1_HUMAN			1	2541_2573	-			529			Poly-Gln.		A9Z1V9	In_Frame_Del	DEL	ENST00000302326.4	37	c.1587_1619delGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCA	CCDS42998.1																																																																																				0.661	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	0	NM_002430		22:28194913
RBMX	27316	broad.mit.edu	37	X	135958816	135958817	+	Splice_Site	DEL	TG	TG	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chrX:135958816_135958817delTG	ENST00000320676.7	-	5	543		c.e5-2		SNORD61_ENST00000384252.1_RNA|RBMX_ENST00000496459.2_5'Flank|RBMX_ENST00000562646.1_Splice_Site|RBMX_ENST00000570135.1_Splice_Site|RBMX_ENST00000431446.3_Intron|RBMX_ENST00000565438.1_Splice_Site	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked						cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CACCGTCATCTGCATCAAAAAT	0.396																																						ENST00000562646.1		NA																	0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33						c.e5-2		RNA binding motif protein, X-linked																																				SO:0001630	splice_region_variant	27316					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chrX:135958816_135958817delTG		CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"""RNA binding motif (RRM) containing"""	9910	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G"""	300199	"""RNA binding motif protein, X chromosome"""			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.389-2CA>-	X.37:g.135958816_135958817delTG		False	False		Somatic	1				RBMX_ENST00000565438.1_Splice_Site|RBMX_ENST00000431446.3_Intron|RBMX_ENST00000570135.1_Splice_Site|RBMX_ENST00000320676.7_Splice_Site				WXS	Illumina HiSeq	Phase_I	P38159	HNRPG_HUMAN			5	543	-	Acute lymphoblastic leukemia(192;0.000127)		NA					B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Splice_Site	DEL	ENST00000320676.7	37		CCDS14661.1																																																																																				0.396	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	0	NM_002139	Intron	X:135958816
C1QB	713	broad.mit.edu	37	1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	rs544508692|rs148813212		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	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
C5	727	broad.mit.edu	37	9	123785771	123785772	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr9:123785771_123785772insT	ENST00000223642.1	-	10	1055_1056	c.1026_1027insA	c.(1024-1029)atacctfs	p.P343fs		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	343					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	TTGATGCCAGGTATTTCTGCCT	0.411																																						ENST00000223642.1		NA																	0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(1024-1029)atacctfs		complement component 5	Eculizumab(DB01257)																																			SO:0001589	frameshift_variant	727				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	g.chr9:123785771_123785772insT	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.1027dupA	9.37:g.123785772_123785772dupT	ENSP00000223642:p.Pro343fs	False	False		Somatic	1					p.P343fs	NM_001735.2	NP_001726.2	WXS	Illumina HiSeq	Phase_I	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	10	1055_1056	-			343					Q14CJ0|Q27I61	Frame_Shift_Ins	INS	ENST00000223642.1	37	c.1026_1027insA	CCDS6826.1																																																																																				0.411	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	0	NM_001735		9:123785771
ZNF365	22891	broad.mit.edu	37	10	64136259	64136259	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr10:64136259A>T	ENST00000395254.3	+	2	587	c.307A>T	c.(307-309)Agc>Tgc	p.S103C	ZNF365_ENST00000395255.3_Missense_Mutation_p.S103C|ZNF365_ENST00000410046.3_Missense_Mutation_p.S103C|ZNF365_ENST00000466727.1_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	62										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TAACTTGTACAGCATTTCACA	0.498																																						ENST00000395254.3		NA																	0				breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(307-309)Agc>Tgc		zinc finger protein 365							126.0	110.0	115.0					10																	64136259		2203	4300	6503	SO:0001583	missense	22891							g.chr10:64136259A>T	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395254.3:c.307A>T	10.37:g.64136259A>T	ENSP00000378674:p.Ser103Cys	False	False		Somatic	0				ZNF365_ENST00000466727.1_Intron|ZNF365_ENST00000410046.3_Missense_Mutation_p.S103C|ZNF365_ENST00000395255.3_Missense_Mutation_p.S103C	p.S103C	NM_014951.2	NP_055766.2	WXS	Illumina HiSeq	Phase_I	Q70YC4	TALAN_HUMAN			2	587	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		62						Missense_Mutation	SNP	ENST00000395254.3	37	c.307A>T	CCDS31209.1	.	.	.	.	.	.	.	.	.	.	A	16.46	3.130161	0.56721	.	.	ENSG00000138311	ENST00000395254;ENST00000395255;ENST00000410046	T;T;T	0.35973	1.28;1.28;1.28	5.61	3.18	0.36537	.	0.272643	0.36740	N	0.002435	T	0.45418	0.1341	L	0.56769	1.78	0.24242	N	0.995357	D;D;D;D	0.76494	0.999;0.992;0.992;0.992	D;P;P;P	0.64595	0.927;0.794;0.724;0.794	T	0.33904	-0.9850	10	0.66056	D	0.02	-2.0655	2.9212	0.05770	0.536:0.2348:0.2292:0.0	.	103;103;103;118	Q70YC5-3;Q70YC5-2;Q70YC5;Q70YC5-4	.;.;ZN365_HUMAN;.	C	103	ENSP00000378674:S103C;ENSP00000378675:S103C;ENSP00000387091:S103C	ENSP00000378674:S103C	S	+	1	0	ZNF365	63806265	0.838000	0.29461	0.979000	0.43373	0.724000	0.41520	2.696000	0.47052	2.138000	0.66242	0.454000	0.30748	AGC		0.498	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048238.2	0	NM_014951		10:64136259
ZNF500	26048	broad.mit.edu	37	16	4803036	4803036	+	Missense_Mutation	SNP	C	C	T	rs142409847		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr16:4803036C>T	ENST00000219478.6	-	6	1083	c.784G>A	c.(784-786)Ggc>Agc	p.G262S	RP11-127I20.7_ENST00000588099.1_RNA|ZNF500_ENST00000591026.1_5'UTR|ZNF500_ENST00000545009.1_Missense_Mutation_p.G262S			O60304	ZN500_HUMAN	zinc finger protein 500	262					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						CCATCACCGCCGTCCTCCAAC	0.587																																						ENST00000219478.6		NA																	0				endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						c.(784-786)Ggc>Agc		zinc finger protein 500		C	SER/GLY	0,4382		0,0,2191	39.0	46.0	43.0		784	3.1	0.0	16	dbSNP_134	43	1,8583		0,1,4291	no	missense	ZNF500	NM_021646.1	56	0,1,6482	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	262/481	4803036	1,12965	2191	4292	6483	SO:0001583	missense	26048				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:4803036C>T	AB011129	CCDS32383.1	16p13.3	2013-01-09				ENSG00000103199		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23716	protein-coding gene	gene with protein product						9628581	Standard	XM_005255243		Approved	ZKSCAN18, KIAA0557, ZSCAN50	uc002cxp.1	O60304		ENST00000219478.6:c.784G>A	16.37:g.4803036C>T	ENSP00000219478:p.Gly262Ser	False	False		Somatic	0				ZNF500_ENST00000591026.1_5'UTR|ZNF500_ENST00000545009.1_Missense_Mutation_p.G262S	p.G262S			WXS	Illumina HiSeq	Phase_I	O60304	ZN500_HUMAN			6	1083	-			262					A8K6X7|B4DNN9|Q0VAL2|Q96CQ8|Q9BTG0	Missense_Mutation	SNP	ENST00000219478.6	37	c.784G>A	CCDS32383.1	.	.	.	.	.	.	.	.	.	.	C	9.305	1.054035	0.19907	0.0	1.16E-4	ENSG00000103199	ENST00000545009;ENST00000219478	T;T	0.06294	3.41;3.32	4.04	3.08	0.35506	Krueppel-associated box (1);	.	.	.	.	T	0.03305	0.0096	N	0.14661	0.345	0.09310	N	1	B;B	0.33755	0.424;0.27	B;B	0.17098	0.017;0.017	T	0.45629	-0.9248	9	0.23891	T	0.37	.	9.1061	0.36698	0.0:0.8891:0.0:0.1109	.	262;262	B4DNN9;O60304	.;ZN500_HUMAN	S	262	ENSP00000445714:G262S;ENSP00000219478:G262S	ENSP00000219478:G262S	G	-	1	0	ZNF500	4743037	0.001000	0.12720	0.048000	0.18961	0.011000	0.07611	1.284000	0.33249	0.694000	0.31654	0.655000	0.94253	GGC		0.587	ZNF500-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432461.1	0	XM_085507		16:4803036
SBNO1	55206	broad.mit.edu	37	12	123780517	123780517	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:123780517G>A	ENST00000602398.1	-	32	4247	c.4120C>T	c.(4120-4122)Caa>Taa	p.Q1374*	SBNO1_ENST00000267176.4_Nonsense_Mutation_p.Q1373*|SBNO1_ENST00000420886.2_Nonsense_Mutation_p.Q1374*|SBNO1_ENST00000602750.1_Nonsense_Mutation_p.Q1373*			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1374					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TGTTTCTGTTGGACCGCAAGC	0.438																																						ENST00000420886.2		NA																	0				NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(4120-4122)Caa>Taa		strawberry notch homolog 1 (Drosophila)							364.0	325.0	338.0					12																	123780517		2203	4300	6503	SO:0001587	stop_gained	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123780517G>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.4120C>T	12.37:g.123780517G>A	ENSP00000473665:p.Gln1374*	False	False		Somatic	0				SBNO1_ENST00000267176.4_Nonsense_Mutation_p.Q1373*|SBNO1_ENST00000602398.1_Nonsense_Mutation_p.Q1374*|SBNO1_ENST00000602750.1_Nonsense_Mutation_p.Q1373*	p.Q1374*	NM_001167856.1	NP_001161328.1	WXS	Illumina HiSeq	Phase_I	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	31	4119	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1374					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Nonsense_Mutation	SNP	ENST00000602398.1	37	c.4120C>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	42	9.178315	0.99091	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-11.0209	20.5792	0.99380	0.0:0.0:1.0:0.0	.	.	.	.	X	1374;1373	.	ENSP00000267176:Q1373X	Q	-	1	0	SBNO1	122346470	1.000000	0.71417	0.930000	0.37139	0.978000	0.69477	9.431000	0.97494	2.873000	0.98535	0.561000	0.74099	CAA		0.438	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	0	NM_018183		12:123780517
RSPH10B2	728194	broad.mit.edu	37	7	6797473	6797473	+	Silent	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr7:6797473G>A	ENST00000403107.1	+	2	552	c.165G>A	c.(163-165)gtG>gtA	p.V55V	RSPH10B2_ENST00000433859.2_Silent_p.V55V|RSPH10B2_ENST00000359718.3_5'UTR|RSPH10B2_ENST00000297186.3_Silent_p.V55V|RSPH10B2_ENST00000404077.1_Silent_p.V55V			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B2 (Chlamydomonas)	55										breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						TCAACGAAGTGAAACCCAAAA	0.453																																						ENST00000403107.1		NA																	0				breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						c.(163-165)gtG>gtA		radial spoke head 10 homolog B2 (Chlamydomonas)							58.0	69.0	66.0					7																	6797473		2162	4263	6425	SO:0001819	synonymous_variant	728194							g.chr7:6797473G>A		CCDS43552.1	7p22.1	2008-07-04			ENSG00000169402	ENSG00000169402			34385	protein-coding gene	gene with protein product							Standard	NM_001099697		Approved		uc003sqw.1	B2RC85	OTTHUMG00000151856	ENST00000403107.1:c.165G>A	7.37:g.6797473G>A		True	False		Somatic	0				RSPH10B2_ENST00000359718.3_5'UTR|RSPH10B2_ENST00000433859.2_Silent_p.V55V|RSPH10B2_ENST00000297186.3_Silent_p.V55V|RSPH10B2_ENST00000404077.1_Silent_p.V55V	p.V55V			WXS	Illumina HiSeq	Phase_I					2	552	+			NA					A6NMW7|B2RXI4|B2RXJ0|Q86ST9|Q8NE68	Silent	SNP	ENST00000403107.1	37	c.165G>A	CCDS43552.1																																																																																				0.453	RSPH10B2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324184.4	0	NM_001099697		7:6797473
KIF1A	547	broad.mit.edu	37	2	241713624	241713624	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:241713624T>C	ENST00000320389.7	-	12	1171	c.1013A>G	c.(1012-1014)tAc>tGc	p.Y338C	KIF1A_ENST00000498729.2_Missense_Mutation_p.Y338C	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	338	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGTCTCATCGTAGTTGATGTC	0.572																																						ENST00000498729.2		NA																	0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(1012-1014)tAc>tGc		kinesin family member 1A							76.0	83.0	81.0					2																	241713624		2159	4257	6416	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241713624T>C	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.1013A>G	2.37:g.241713624T>C	ENSP00000322791:p.Tyr338Cys	False	False		Somatic	0				KIF1A_ENST00000320389.7_Missense_Mutation_p.Y338C	p.Y338C	NM_001244008.1	NP_001230937.1	WXS	Illumina HiSeq	Phase_I	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	12	1259	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	338			Kinesin-motor.		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.1013A>G	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	T	17.53	3.413213	0.62511	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.76186	-1.0;-1.0;-1.0	4.33	4.33	0.51752	Kinesin, motor domain (3);	0.000000	0.85682	U	0.000000	D	0.87406	0.6169	M	0.88775	2.98	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;0.998;1.0	D	0.89725	0.3922	10	0.87932	D	0	.	13.1872	0.59688	0.0:0.0:0.0:1.0	.	338;338;338	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	C	338	ENSP00000322791:Y338C;ENSP00000438388:Y338C;ENSP00000384231:Y338C	ENSP00000322791:Y338C	Y	-	2	0	KIF1A	241362297	1.000000	0.71417	0.952000	0.39060	0.601000	0.36947	7.764000	0.85297	1.593000	0.50029	0.374000	0.22700	TAC		0.572	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	0	NM_138483		2:241713624
LMF2	91289	broad.mit.edu	37	22	50941833	50941833	+	Missense_Mutation	SNP	C	C	T	rs144342127		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr22:50941833C>T	ENST00000474879.2	-	14	2126	c.2111G>A	c.(2110-2112)cGg>cAg	p.R704Q	LMF2_ENST00000380796.3_Missense_Mutation_p.R591Q|LMF2_ENST00000216080.5_Missense_Mutation_p.R679Q|LMF2_ENST00000505981.1_5'Flank	NM_033200.2	NP_149977.2	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	704						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTTCTTTCGCCGGGTGGTCCT	0.672													c|||	1	0.000199681	0.0	0.0	5008	,	,		13642	0.0		0.001	False		,,,				2504	0.0					ENST00000216080.5		NA																	0				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10						c.(2035-2037)cGg>cAg		lipase maturation factor 2		C	GLN/ARG	1,4313		0,1,2156	28.0	26.0	27.0		2111	5.1	1.0	22	dbSNP_134	27	0,8452		0,0,4226	no	missense	LMF2	NM_033200.2	43	0,1,6382	TT,TC,CC		0.0,0.0232,0.0078	probably-damaging	704/708	50941833	1,12765	2157	4226	6383	SO:0001583	missense	91289					endoplasmic reticulum membrane|integral to membrane		g.chr22:50941833C>T	BC002942	CCDS14093.1, CCDS14093.2	22q13.33	2008-02-04	2007-11-29	2007-11-29	ENSG00000100258	ENSG00000100258			25096	protein-coding gene	gene with protein product			"""transmembrane protein 153"", ""transmembrane protein 112B"""	TMEM153, TMEM112B		12477932	Standard	NM_033200		Approved		uc003blp.2	Q9BU23	OTTHUMG00000150206	ENST00000474879.2:c.2111G>A	22.37:g.50941833C>T	ENSP00000424381:p.Arg704Gln	True	False		Somatic	0				LMF2_ENST00000380796.3_Missense_Mutation_p.R591Q|LMF2_ENST00000474879.2_Missense_Mutation_p.R704Q	p.R679Q			WXS	Illumina HiSeq	Phase_I	Q9BU23	LMF2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	14	2204	-		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	704					A6NEZ0|Q13392|Q6ZNR2|Q8WU74|Q96C62	Missense_Mutation	SNP	ENST00000474879.2	37	c.2036G>A	CCDS14093.2	.	.	.	.	.	.	.	.	.	.	C	18.08	3.543489	0.65198	2.32E-4	0.0	ENSG00000100258	ENST00000380796;ENST00000474879;ENST00000216080	T;T;T	0.41758	0.99;1.65;1.64	5.14	5.14	0.70334	.	0.512980	0.18854	N	0.129333	T	0.61048	0.2316	M	0.71581	2.175	0.23356	N	0.997846	D;D	0.76494	0.999;0.999	P;P	0.62649	0.806;0.905	T	0.55995	-0.8052	10	0.62326	D	0.03	-0.3442	14.4462	0.67352	0.0:1.0:0.0:0.0	.	704;679	Q9BU23;Q9BU23-2	LMF2_HUMAN;.	Q	591;704;679	ENSP00000370173:R591Q;ENSP00000424381:R704Q;ENSP00000216080:R679Q	ENSP00000216080:R679Q	R	-	2	0	LMF2	49288699	0.435000	0.25577	0.972000	0.41901	0.066000	0.16364	1.010000	0.29898	2.549000	0.85964	0.491000	0.48974	CGG		0.672	LMF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316833.2	0	NM_033200		22:50941833
PRPF39	55015	broad.mit.edu	37	14	45578898	45578898	+	Missense_Mutation	SNP	T	T	C	rs377585844		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr14:45578898T>C	ENST00000355765.6	+	8	1261	c.1091T>C	c.(1090-1092)aTt>aCt	p.I364T	SNORD127_ENST00000458892.1_RNA	NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	364					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						GAATTTGAAATTGAAAATGGG	0.333																																						ENST00000355765.6		NA																	0				breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						c.(1090-1092)aTt>aCt		pre-mRNA processing factor 39		T	THR/ILE	1,4403	2.1+/-5.4	0,1,2201	65.0	61.0	62.0		1091	5.7	1.0	14		62	0,8598		0,0,4299	no	missense	PRPF39	NM_017922.3	89	0,1,6500	CC,CT,TT		0.0,0.0227,0.0077	benign	364/670	45578898	1,13001	2202	4299	6501	SO:0001583	missense	55015				mRNA processing|RNA splicing	nucleus	binding	g.chr14:45578898T>C	AK000673	CCDS9682.2	14q21.1	2013-10-03	2013-10-03		ENSG00000185246	ENSG00000185246			20314	protein-coding gene	gene with protein product		614907	"""PRP39 pre-mRNA processing factor 39 homolog (yeast)"", ""PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae)"""				Standard	NM_017922		Approved	FLJ20666, FLJ11128	uc001wvz.4	Q86UA1	OTTHUMG00000140265	ENST00000355765.6:c.1091T>C	14.37:g.45578898T>C	ENSP00000348010:p.Ile364Thr	True	False		Somatic	0					p.I364T	NM_017922.3	NP_060392.3	WXS	Illumina HiSeq	Phase_I	Q86UA1	PRP39_HUMAN			8	1261	+			364					Q08AL1|Q08AL2|Q9NUU5	Missense_Mutation	SNP	ENST00000355765.6	37	c.1091T>C	CCDS9682.2	.	.	.	.	.	.	.	.	.	.	T	15.07	2.725036	0.48833	2.27E-4	0.0	ENSG00000185246	ENST00000355765	T	0.34072	1.38	5.72	5.72	0.89469	.	0.099811	0.64402	D	0.000003	T	0.44222	0.1283	M	0.61703	1.905	0.80722	D	1	P	0.38129	0.619	P	0.46299	0.511	T	0.24870	-1.0148	10	0.14252	T	0.57	-0.4776	14.8233	0.70091	0.0:0.0:0.0:1.0	.	364	Q86UA1	PRP39_HUMAN	T	364	ENSP00000348010:I364T	ENSP00000348010:I364T	I	+	2	0	PRPF39	44648648	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.845000	0.86875	2.184000	0.69523	0.383000	0.25322	ATT		0.333	PRPF39-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319683.2	0			14:45578898
PITPNM1	9600	broad.mit.edu	37	11	67262964	67262964	+	Silent	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:67262964G>A	ENST00000534749.1	-	15	2615	c.2427C>T	c.(2425-2427)gcC>gcT	p.A809A	PITPNM1_ENST00000356404.3_Silent_p.A809A|PITPNM1_ENST00000526450.1_5'Flank|PITPNM1_ENST00000436757.2_Silent_p.A808A			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	809	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GGGGGTCAGTGGCCAACTCAC	0.647																																					GBM(28;144 709 4607 5525)	ENST00000356404.3		NA																	0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(2425-2427)gcC>gcT		phosphatidylinositol transfer protein, membrane-associated 1							20.0	17.0	18.0					11																	67262964		2188	4284	6472	SO:0001819	synonymous_variant	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67262964G>A	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.2427C>T	11.37:g.67262964G>A		False	False		Somatic	0				PITPNM1_ENST00000436757.2_Silent_p.A808A|PITPNM1_ENST00000534749.1_Silent_p.A809A	p.A809A	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	WXS	Illumina HiSeq	Phase_I	O00562	PITM1_HUMAN			16	2652	-			809			DDHD.		A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Silent	SNP	ENST00000534749.1	37	c.2427C>T	CCDS31620.1																																																																																				0.647	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	0	NM_004910		11:67262964
MN1	4330	broad.mit.edu	37	22	28194945	28194945	+	Silent	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr22:28194945C>T	ENST00000302326.4	-	1	2541	c.1587G>A	c.(1585-1587)caG>caA	p.Q529Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	529	Poly-Gln.				intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						gctgctgctgctgctgctgct	0.647			T	ETV6	"""AML, meningioma"""																																	ENST00000302326.4		NA		Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		"""AML, meningioma"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(1585-1587)caG>caA		meningioma (disrupted in balanced translocation) 1							3.0	5.0	4.0					22																	28194945		1291	2827	4118	SO:0001819	synonymous_variant	4330						binding	g.chr22:28194945C>T	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1587G>A	22.37:g.28194945C>T		True	False		Somatic	0					p.Q529Q	NM_002430.2	NP_002421.3	WXS	Illumina HiSeq	Phase_I	Q10571	MN1_HUMAN			1	2541	-			529			Poly-Gln.		A9Z1V9	Silent	SNP	ENST00000302326.4	37	c.1587G>A	CCDS42998.1																																																																																				0.647	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	0	NM_002430		22:28194945
PKD1L1	168507	broad.mit.edu	37	7	47970835	47970835	+	Silent	SNP	C	C	T	rs141425680		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr7:47970835C>T	ENST00000289672.2	-	6	653	c.603G>A	c.(601-603)gcG>gcA	p.A201A		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	201					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CCACATCCTCCGCACAGCACA	0.607													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18733	0.0		0.0	False		,,,				2504	0.0					ENST00000289672.2		NA																BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(601-603)gcG>gcA		polycystic kidney disease 1 like 1		C		1,4405	2.1+/-5.4	0,1,2202	67.0	68.0	68.0		603	0.9	0.0	7	dbSNP_134	68	0,8600		0,0,4300	no	coding-synonymous	PKD1L1	NM_138295.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		201/2850	47970835	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	168507				cell-cell adhesion	integral to membrane		g.chr7:47970835C>T	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.603G>A	7.37:g.47970835C>T		True	False		Somatic	0					p.A201A	NM_138295.3	NP_612152.1	WXS	Illumina HiSeq	Phase_I	Q8TDX9	PK1L1_HUMAN			6	653	-			201					Q6UWK1	Silent	SNP	ENST00000289672.2	37	c.603G>A	CCDS34633.1																																																																																				0.607	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	0	NM_138295		7:47970835
EIF4ENIF1	56478	broad.mit.edu	37	22	31837984	31837984	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr22:31837984C>T	ENST00000397525.1	-	17	2550	c.2327G>A	c.(2326-2328)cGt>cAt	p.R776H	EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R752H|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.R602H|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R776H|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.R431H|EIF4ENIF1_ENST00000441289.1_5'Flank	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	776						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTTGGTGTAACGGTTGGCCTG	0.507																																						ENST00000397525.1		NA																	0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2326-2328)cGt>cAt		eukaryotic translation initiation factor 4E nuclear import factor 1							261.0	250.0	253.0					22																	31837984		2203	4300	6503	SO:0001583	missense	56478					nucleus	protein binding|protein transporter activity	g.chr22:31837984C>T	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.2327G>A	22.37:g.31837984C>T	ENSP00000380659:p.Arg776His	False	False		Somatic	0				EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.R431H|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.R602H|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R752H|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R776H	p.R776H	NM_001164501.1	NP_001157973.1	WXS	Illumina HiSeq	Phase_I	Q9NRA8	4ET_HUMAN			17	2550	-			776					B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	37	c.2327G>A	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419760	0.83559	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000382180	.	.	.	6.17	6.17	0.99709	.	0.276957	0.42053	D	0.000777	T	0.77942	0.4206	M	0.61703	1.905	0.58432	D	0.999995	D;D;D;D	0.89917	0.988;1.0;0.975;0.999	P;D;P;D	0.78314	0.483;0.991;0.482;0.948	T	0.72871	-0.4161	9	0.35671	T	0.21	-4.8798	19.8676	0.96824	0.0:1.0:0.0:0.0	.	602;776;601;752	B1AKL3;Q9NRA8;Q9NRA8-2;B1AKL4	.;4ET_HUMAN;.;.	H	602;776;776;752;431	.	ENSP00000328103:R776H	R	-	2	0	EIF4ENIF1	30167984	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	4.410000	0.59774	2.941000	0.99782	0.655000	0.94253	CGT		0.507	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	0	NM_019843		22:31837984
TENM4	26011	broad.mit.edu	37	11	78440582	78440582	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:78440582G>A	ENST00000278550.7	-	22	3707	c.3245C>T	c.(3244-3246)cCg>cTg	p.P1082L		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1082					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										GGGGATGGTCGGGTGGGTGAG	0.577																																						ENST00000278550.7		NA																	0					NA						c.(3244-3246)cCg>cTg		teneurin transmembrane protein 4							60.0	67.0	65.0					11																	78440582		1991	4158	6149	SO:0001583	missense	26011							g.chr11:78440582G>A	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.3245C>T	11.37:g.78440582G>A	ENSP00000278550:p.Pro1082Leu	True	False		Somatic	0					p.P1082L	NM_001098816.2	NP_001092286.2	WXS	Illumina HiSeq	Phase_I					22	3707	-			NA					A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.3245C>T	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542110	0.65198	.	.	ENSG00000149256	ENST00000278550	D	0.89552	-2.53	4.73	3.81	0.43845	.	0.060449	0.64402	D	0.000002	T	0.78336	0.4267	N	0.24115	0.695	0.58432	D	0.999991	P	0.49358	0.923	B	0.33521	0.165	T	0.77335	-0.2626	9	.	.	.	.	15.1288	0.72503	0.0:0.1419:0.8581:0.0	.	1082	Q6N022	TEN4_HUMAN	L	1082	ENSP00000278550:P1082L	.	P	-	2	0	ODZ4	78118230	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	6.477000	0.73591	1.196000	0.43129	0.491000	0.48974	CCG		0.577	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2	0			11:78440582
SALL2	6297	broad.mit.edu	37	14	21991588	21991588	+	Silent	SNP	C	C	T	rs200356033	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr14:21991588C>T	ENST00000327430.3	-	2	2568	c.2274G>A	c.(2272-2274)ccG>ccA	p.P758P	AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000450879.2_Silent_p.P621P|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	758					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		ACTCCTCTTCCGGTGATGGCT	0.577													C|||	2	0.000399361	0.0	0.0029	5008	,	,		19925	0.0		0.0	False		,,,				2504	0.0					ENST00000327430.3		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43						c.(2272-2274)ccG>ccA		spalt-like transcription factor 2		C		0,4406		0,0,2203	51.0	50.0	50.0		2274	-4.5	0.2	14		50	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SALL2	NM_005407.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		758/1008	21991588	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21991588C>T	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.2274G>A	14.37:g.21991588C>T		False	False		Somatic	0				SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000450879.2_Silent_p.P621P	p.P758P	NM_005407.1	NP_005398.1	WXS	Illumina HiSeq	Phase_I	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	2568	-	all_cancers(95;0.000662)		758					B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Silent	SNP	ENST00000327430.3	37	c.2274G>A	CCDS32045.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	5.549	0.286213	0.10513	0.0	1.16E-4	ENSG00000165821	ENST00000546363	.	.	.	4.76	-4.5	0.03493	.	.	.	.	.	T	0.30198	0.0757	.	.	.	0.33671	D	0.61096	.	.	.	.	.	.	T	0.38023	-0.9680	4	.	.	.	-4.7548	2.0412	0.03550	0.1233:0.2335:0.3794:0.2638	.	.	.	.	Q	617	.	.	R	-	2	0	SALL2	21061428	0.000000	0.05858	0.236000	0.24074	0.786000	0.44442	-1.953000	0.01526	-1.030000	0.03312	-1.264000	0.01445	CGG		0.577	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	0	NM_005407		14:21991588
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273H	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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"""		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)cGt>cAt	Other conserved DNA damage response genes	tumor protein p53							67.0	58.0	61.0					17																	7577120		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577120C>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.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His	False	False	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	Somatic	0				TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H	p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina HiSeq	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	950	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.818G>A	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7577120
NUP210	23225	broad.mit.edu	37	3	13360637	13360637	+	Missense_Mutation	SNP	G	G	A	rs184792881	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:13360637G>A	ENST00000254508.5	-	39	5580	c.5498C>T	c.(5497-5499)aCg>aTg	p.T1833M		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1833					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)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					ATCCCGGGGCGTGCAGACAGT	0.637													G|||	3	0.000599042	0.0	0.0	5008	,	,		18218	0.003		0.0	False		,,,				2504	0.0					ENST00000254508.5		NA																	0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(5497-5499)aCg>aTg		nucleoporin 210kDa							73.0	73.0	73.0					3																	13360637		2203	4300	6503	SO:0001583	missense	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13360637G>A	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.5498C>T	3.37:g.13360637G>A	ENSP00000254508:p.Thr1833Met	False	False		Somatic	0					p.T1833M	NM_024923.2	NP_079199.2	WXS	Illumina HiSeq	Phase_I	Q8TEM1	PO210_HUMAN			39	5580	-	all_neural(104;0.187)		1833					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.5498C>T	CCDS33704.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	15.41	2.826752	0.50739	.	.	ENSG00000132182	ENST00000254508	T	0.05081	3.5	5.45	4.56	0.56223	.	1.369470	0.04485	N	0.378425	T	0.10078	0.0247	N	0.22421	0.69	0.09310	N	1	D	0.59767	0.986	P	0.47528	0.549	T	0.50591	-0.8810	10	0.46703	T	0.11	-0.0018	14.191	0.65637	0.0:0.1496:0.8504:0.0	.	1833	Q8TEM1	PO210_HUMAN	M	1833	ENSP00000254508:T1833M	ENSP00000254508:T1833M	T	-	2	0	NUP210	13335637	0.493000	0.26035	0.003000	0.11579	0.045000	0.14185	4.575000	0.60908	1.288000	0.44600	0.561000	0.74099	ACG		0.637	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	0	NM_024923		3:13360637
ZNF702P	79986	broad.mit.edu	37	19	53473141	53473141	+	RNA	SNP	A	A	G			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:53473141A>G	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							GTGAATTACAATATGTTGTGC	0.393																																						ENST00000600068.1		NA																	0					NA															136.0	123.0	127.0					19																	53473141		876	1991	2867			0							g.chr19:53473141A>G																													19.37:g.53473141A>G		False	False		Somatic	0				ZNF702P_ENST00000270443.4_RNA				WXS	Illumina HiSeq	Phase_I					0	489	-			NA						RNA	SNP	ENST00000600068.1	37																																																																																						0.393	CTD-2620I22.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000463881.1	0			19:53473141
FSHR	2492	broad.mit.edu	37	2	49190190	49190190	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:49190190G>T	ENST00000406846.2	-	10	1889	c.1770C>A	c.(1768-1770)ttC>ttA	p.F590L	FSHR_ENST00000346173.3_Missense_Mutation_p.F528L|FSHR_ENST00000304421.4_Missense_Mutation_p.F564L|FSHR_ENST00000541117.1_Missense_Mutation_p.F326L	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	590					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.F590L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	AAATGGCAAAGAAAGAAATGG	0.532									Gonadal Dysgenesis, 46 XX																													ENST00000406846.2		NA																	1	Substitution - Missense(1)	p.F590L(1)	large_intestine(1)	NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(1768-1770)ttC>ttA		follicle stimulating hormone receptor	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						61.0	60.0	60.0					2																	49190190		2203	4300	6503	SO:0001583	missense	0	Gonadal Dysgenesis, 46 XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49190190G>T		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1770C>A	2.37:g.49190190G>T	ENSP00000384708:p.Phe590Leu	True	False		Somatic	0				FSHR_ENST00000346173.3_Missense_Mutation_p.F528L|FSHR_ENST00000304421.4_Missense_Mutation_p.F564L|FSHR_ENST00000541117.1_Missense_Mutation_p.F326L	p.F590L	NM_000145.3	NP_000136.2	WXS	Illumina HiSeq	Phase_I	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	1889	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	590					A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.1770C>A	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.857498	0.32791	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117	T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45	5.35	4.47	0.54385	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.57725	0.2073	L	0.53561	1.675	0.80722	D	1	B;B;B	0.11235	0.004;0.002;0.003	B;B;B	0.15870	0.014;0.008;0.014	T	0.53429	-0.8440	9	.	.	.	.	8.786	0.34821	0.231:0.0:0.769:0.0	.	564;528;590	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	L	590;528;564;326	ENSP00000384708:F590L;ENSP00000333908:F528L;ENSP00000306780:F564L;ENSP00000444172:F326L	.	F	-	3	2	FSHR	49043694	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.409000	0.44583	1.620000	0.50308	0.655000	0.94253	TTC		0.532	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2	0			2:49190190
NTNG2	84628	broad.mit.edu	37	9	135114577	135114577	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr9:135114577C>T	ENST00000393229.3	+	6	1917	c.1141C>T	c.(1141-1143)Cga>Tga	p.R381*	NTNG2_ENST00000393228.4_Nonsense_Mutation_p.R373*|NTNG2_ENST00000360670.3_Nonsense_Mutation_p.R387*	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	381	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GCACAACACGCGAGGTCAGCA	0.607																																						ENST00000393229.3		NA																	0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(1141-1143)Cga>Tga		netrin G2							86.0	67.0	74.0					9																	135114577		2203	4300	6503	SO:0001587	stop_gained	84628				axonogenesis	anchored to plasma membrane		g.chr9:135114577C>T	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.1141C>T	9.37:g.135114577C>T	ENSP00000376921:p.Arg381*	False	False		Somatic	0				NTNG2_ENST00000393228.4_Nonsense_Mutation_p.R373*|NTNG2_ENST00000360670.3_Nonsense_Mutation_p.R387*	p.R381*	NM_032536.2	NP_115925.2	WXS	Illumina HiSeq	Phase_I	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	6	1917	+			381			Laminin EGF-like 2.		Q5JUJ2|Q6UXY0|Q96JH0	Nonsense_Mutation	SNP	ENST00000393229.3	37	c.1141C>T	CCDS6946.1	.	.	.	.	.	.	.	.	.	.	C	42	9.475566	0.99181	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670	.	.	.	4.94	3.05	0.35203	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	12.9469	0.58376	0.2951:0.7048:0.0:0.0	.	.	.	.	X	381;373;387	.	ENSP00000353888:R387X	R	+	1	2	NTNG2	134104398	0.026000	0.19158	0.331000	0.25455	0.354000	0.29330	0.378000	0.20569	0.471000	0.27319	-0.310000	0.09108	CGA		0.607	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	0	NM_032536		9:135114577
KCNG3	170850	broad.mit.edu	37	2	42671164	42671164	+	Missense_Mutation	SNP	A	A	T	rs373276662		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:42671164A>T	ENST00000306078.1	-	2	1816	c.1221T>A	c.(1219-1221)ttT>ttA	p.F407L	KCNG3_ENST00000394973.4_Missense_Mutation_p.F396L	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3	407					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						TATGGTAGATAAAAGTGATAG	0.398																																						ENST00000306078.1		NA																	0				central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						c.(1219-1221)ttT>ttA		potassium voltage-gated channel, subfamily G, member 3							128.0	126.0	127.0					2																	42671164		2203	4300	6503	SO:0001583	missense	170850					endoplasmic reticulum|voltage-gated potassium channel complex	protein binding	g.chr2:42671164A>T	AB070604	CCDS1809.1, CCDS42674.1	2p21	2011-07-05			ENSG00000171126	ENSG00000171126		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18306	protein-coding gene	gene with protein product		606767				11852086, 16382104	Standard	NM_133329		Approved	Kv6.3	uc002rsn.3	Q8TAE7	OTTHUMG00000128604	ENST00000306078.1:c.1221T>A	2.37:g.42671164A>T	ENSP00000304127:p.Phe407Leu	True	False		Somatic	0				KCNG3_ENST00000394973.4_Missense_Mutation_p.F396L	p.F407L	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	WXS	Illumina HiSeq	Phase_I	Q8TAE7	KCNG3_HUMAN			2	1816	-			407					Q53SC1	Missense_Mutation	SNP	ENST00000306078.1	37	c.1221T>A	CCDS1809.1	.	.	.	.	.	.	.	.	.	.	A	12.45	1.943128	0.34283	.	.	ENSG00000171126	ENST00000306078;ENST00000394973	D;D	0.98207	-4.79;-4.79	5.2	-0.932	0.10435	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.96734	0.8934	N	0.11698	0.16	0.47065	D	0.999303	D;D	0.63046	0.992;0.974	D;D	0.76071	0.987;0.969	D	0.94389	0.7612	10	0.66056	D	0.02	.	12.9539	0.58416	0.3285:0.0:0.6715:0.0	.	407;396	Q8TAE7;Q8TAE7-2	KCNG3_HUMAN;.	L	407;396	ENSP00000304127:F407L;ENSP00000378424:F396L	ENSP00000304127:F407L	F	-	3	2	KCNG3	42524668	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	1.574000	0.36482	-0.176000	0.10707	-0.400000	0.06385	TTT		0.398	KCNG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250464.2	0	NM_172344		2:42671164
ZNF99	7652	broad.mit.edu	37	19	22940908	22940908	+	Silent	SNP	A	A	G			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:22940908A>G	ENST00000596209.1	-	4	1893	c.1803T>C	c.(1801-1803)gcT>gcC	p.A601A	ZNF99_ENST00000397104.3_Silent_p.A510A	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	601					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AGTGGTTAAAAGCTTTGCCAC	0.378																																						ENST00000397104.3		NA																	0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(1528-1530)gcT>gcC		zinc finger protein 99							42.0	47.0	45.0					19																	22940908		2045	4238	6283	SO:0001819	synonymous_variant	7652							g.chr19:22940908A>G	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1803T>C	19.37:g.22940908A>G		True	False		Somatic	0				ZNF99_ENST00000596209.1_Silent_p.A601A	p.A510A			WXS	Illumina HiSeq	Phase_I					5	1529	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)	NA					M0R335	Silent	SNP	ENST00000596209.1	37	c.1530T>C	CCDS59369.1																																																																																				0.378	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	0	XM_065124		19:22940908
HIST1H2BO	8348	broad.mit.edu	37	6	27861401	27861401	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr6:27861401G>A	ENST00000303806.4	+	1	199	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST1H3J_ENST00000359303.2_5'Flank|HIST1H2AM_ENST00000359611.2_5'Flank|HIST1H3J_ENST00000479986.1_5'Flank	NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	54					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)										CCCGACACCGGCATCTCATCG	0.557																																						ENST00000303806.4		NA																	0					NA						c.(160-162)gGc>gAc		histone cluster 1, H2bo							161.0	145.0	151.0					6																	27861401		2203	4300	6503	SO:0001583	missense	8348				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27861401G>A	X57138	CCDS4640.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196331			"""Histones / Replication-dependent"""	4758	protein-coding gene	gene with protein product		602808	"""H2B histone family, member N"", ""histone 1, H2bo"""	H2BFN		1768865, 12408966	Standard	NM_003527		Approved	H2B/n, H2B.2	uc003nkc.1	P23527	OTTHUMG00000014493	ENST00000303806.4:c.161G>A	6.37:g.27861401G>A	ENSP00000303408:p.Gly54Asp	False	False		Somatic	0					p.G54D	NM_003527.4	NP_003518.2	WXS	Illumina HiSeq	Phase_I	P23527	H2B1O_HUMAN			1	199	+			54					Q3KPI7|Q8TCV6	Missense_Mutation	SNP	ENST00000303806.4	37	c.161G>A	CCDS4640.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928991	0.73327	.	.	ENSG00000196331	ENST00000303806	T	0.69435	-0.4	3.55	3.55	0.40652	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.82240	0.4994	M	0.93150	3.385	0.51767	D	0.999939	D	0.61697	0.99	D	0.64595	0.927	D	0.87114	0.2187	9	0.87932	D	0	.	14.9186	0.70818	0.0:0.0:1.0:0.0	.	54	P23527	H2B1O_HUMAN	D	54	ENSP00000303408:G54D	ENSP00000303408:G54D	G	+	2	0	HIST1H2BO	27969380	1.000000	0.71417	1.000000	0.80357	0.528000	0.34623	7.022000	0.76431	2.275000	0.75901	0.561000	0.74099	GGC		0.557	HIST1H2BO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040161.1	0	NM_003527		6:27861401
PXK	54899	broad.mit.edu	37	3	58385103	58385103	+	Splice_Site	SNP	C	C	G			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:58385103C>G	ENST00000356151.2	+	12	1289	c.1180C>G	c.(1180-1182)Cca>Gca	p.P394A	PXK_ENST00000536660.1_Splice_Site_p.P257A|PXK_ENST00000484288.1_Splice_Site_p.P394A|PXK_ENST00000383715.4_Splice_Site_p.P377A|PXK_ENST00000463280.1_Splice_Site_p.P361A|PXK_ENST00000383716.3_Splice_Site_p.P361A|PXK_ENST00000302779.5_Splice_Site_p.P377A|PXK_ENST00000479241.1_Splice_Site_p.P377A	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase											cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		CTTACAGATGCCGTAAGTCAA	0.448																																						ENST00000463280.1		NA																	0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1081-1083)Cca>Gca		PX domain containing serine/threonine kinase							142.0	122.0	129.0					3																	58385103		2203	4300	6503	SO:0001630	splice_region_variant	54899				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity	g.chr3:58385103C>G	AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297			23326	protein-coding gene	gene with protein product		611450					Standard	XM_005265255		Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000356151.2:c.1181+1C>G	3.37:g.58385103C>G		False	False		Somatic	0				PXK_ENST00000484288.1_Splice_Site_p.P394A|PXK_ENST00000356151.2_Splice_Site_p.P394A|PXK_ENST00000302779.5_Splice_Site_p.P377A|PXK_ENST00000383715.4_Splice_Site_p.P377A|PXK_ENST00000536660.1_Splice_Site_p.P257A|PXK_ENST00000383716.3_Splice_Site_p.P361A|PXK_ENST00000479241.1_Splice_Site_p.P377A	p.P361A			WXS	Illumina HiSeq	Phase_I	Q7Z7A4	PXK_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)	10	1172	+			394			Protein kinase.			Splice_Site	SNP	ENST00000356151.2	37	c.1081C>G	CCDS2889.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.8|26.8	4.770248|4.770248	0.90108|0.90108	.|.	.|.	ENSG00000168297|ENSG00000168297	ENST00000479134|ENST00000356151;ENST00000302779;ENST00000383716;ENST00000463280;ENST00000383715;ENST00000484288;ENST00000479241;ENST00000536660;ENST00000536750	.|T;T;T;T;T;T;T;T	.|0.34667	.|2.12;2.11;2.12;1.4;1.39;1.4;1.35;2.12	5.87|5.87	5.87|5.87	0.94306|0.94306	.|Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.65196|0.65196	0.2668|0.2668	M|M	0.80183|0.80183	2.485|2.485	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|0.996;0.998;0.989;1.0;0.997;1.0	.|D;D;P;D;D;D	.|0.79108	.|0.953;0.943;0.9;0.992;0.942;0.979	T|T	0.63497|0.63497	-0.6624|-0.6624	5|10	.|0.49607	.|T	.|0.09	-14.302|-14.302	20.5827|20.5827	0.99408|0.99408	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|361;361;361;394;377;394	.|E9PD56;Q7Z7A4-6;B4DID9;Q7Z7A4;Q7Z7A4-4;Q7Z7A4-2	.|.;.;.;PXK_HUMAN;.;.	W|A	148|394;377;361;361;377;394;377;257;257	.|ENSP00000348472:P394A;ENSP00000305045:P377A;ENSP00000373222:P361A;ENSP00000417903:P361A;ENSP00000373221:P377A;ENSP00000417915:P394A;ENSP00000419049:P377A;ENSP00000438356:P257A	.|ENSP00000305045:P377A	C|P	+|+	3|1	2|0	PXK|PXK	58360143|58360143	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.715000|4.715000	0.61909|0.61909	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	TGC|CCA		0.448	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353499.1	0	NM_017771	Missense_Mutation	3:58385103
ZNF554	115196	broad.mit.edu	37	19	2834140	2834140	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:2834140C>T	ENST00000317243.5	+	5	1105	c.907C>T	c.(907-909)Cag>Tag	p.Q303*	ZNF554_ENST00000591265.1_3'UTR	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	303					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAAAATGGGCAGTCATTGAA	0.478																																						ENST00000317243.5		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(907-909)Cag>Tag		zinc finger protein 554							88.0	94.0	92.0					19																	2834140		2007	4165	6172	SO:0001587	stop_gained	115196				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2834140C>T	AK027860	CCDS42462.1	19p13.3	2013-09-20			ENSG00000172006	ENSG00000172006		"""Zinc fingers, C2H2-type"", ""-"""	26629	protein-coding gene	gene with protein product						12477932	Standard	NM_001102651		Approved	FLJ34817	uc002lwm.2	Q86TJ5	OTTHUMG00000180493	ENST00000317243.5:c.907C>T	19.37:g.2834140C>T	ENSP00000321132:p.Gln303*	True	False		Somatic	0				ZNF554_ENST00000591265.1_3'UTR	p.Q303*	NM_001102651.1	NP_001096121.1	WXS	Illumina HiSeq	Phase_I	Q86TJ5	ZN554_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	1105	+		Hepatocellular(1079;0.137)	303					Q8NAT3|Q9BWN3	Nonsense_Mutation	SNP	ENST00000317243.5	37	c.907C>T	CCDS42462.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.673776	0.67928	.	.	ENSG00000172006	ENST00000317243	.	.	.	2.77	0.44	0.16572	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.99999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.9143	0.05748	0.5402:0.2836:0.1762:0.0	.	.	.	.	X	303	.	ENSP00000321132:Q303X	Q	+	1	0	ZNF554	2785140	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.558000	0.23469	-0.062000	0.13088	-0.505000	0.04504	CAG		0.478	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451598.3	0	NM_152303		19:2834140
ZNF786	136051	broad.mit.edu	37	7	148767872	148767872	+	Silent	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr7:148767872G>A	ENST00000491431.1	-	4	2056	c.1992C>T	c.(1990-1992)atC>atT	p.I664I	ZNF786_ENST00000451334.3_Silent_p.I627I|ZNF786_ENST00000316286.9_Silent_p.I578I	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	664					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGATGTGCTCGATGAGCTTTG	0.582																																						ENST00000316286.9		NA																	0				breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26						c.(1732-1734)atC>atT		zinc finger protein 786							70.0	75.0	73.0					7																	148767872		2156	4276	6432	SO:0001819	synonymous_variant	136051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148767872G>A	AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"""Zinc fingers, C2H2-type"", ""-"""	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.1992C>T	7.37:g.148767872G>A		False	False		Somatic	0				ZNF786_ENST00000451334.3_Silent_p.I627I|ZNF786_ENST00000491431.1_Silent_p.I664I	p.I578I			WXS	Illumina HiSeq	Phase_I	Q8N393	ZN786_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		3	2006	-	Melanoma(164;0.15)		664					A1A568|B4DMI1	Silent	SNP	ENST00000491431.1	37	c.1734C>T	CCDS47738.1																																																																																				0.582	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1	0	NM_152411		7:148767872
OR2T6	254879	broad.mit.edu	37	1	248551551	248551551	+	Silent	SNP	G	G	C	rs373005006		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:248551551G>C	ENST00000355728.2	+	1	642	c.642G>C	c.(640-642)gtG>gtC	p.V214V		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTCGGTGGTGACTGCATCCT	0.537																																						ENST00000355728.2		NA																	0				endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(640-642)gtG>gtC		olfactory receptor, family 2, subfamily T, member 6							303.0	230.0	255.0					1																	248551551		2203	4300	6503	SO:0001819	synonymous_variant	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248551551G>C	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.642G>C	1.37:g.248551551G>C		False	False		Somatic	0					p.V214V	NM_001005471.1	NP_001005471.1	WXS	Illumina HiSeq	Phase_I	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	642	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		214					A6NE36	Silent	SNP	ENST00000355728.2	37	c.642G>C	CCDS31114.1																																																																																				0.537	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	0	NM_001005471		1:248551551
PTPN21	11099	broad.mit.edu	37	14	88946299	88946299	+	Silent	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr14:88946299G>A	ENST00000556564.1	-	13	1760	c.1476C>T	c.(1474-1476)agC>agT	p.S492S	PTPN21_ENST00000328736.3_Silent_p.S492S	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	492					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TCTCGGGCTGGCTGTAGACCA	0.677																																						ENST00000556564.1		NA																	0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1474-1476)agC>agT		protein tyrosine phosphatase, non-receptor type 21							31.0	37.0	35.0					14																	88946299		2203	4299	6502	SO:0001819	synonymous_variant	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88946299G>A	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.1476C>T	14.37:g.88946299G>A		True	False		Somatic	0				PTPN21_ENST00000328736.3_Silent_p.S492S	p.S492S	NM_007039.3	NP_008970.2	WXS	Illumina HiSeq	Phase_I	Q16825	PTN21_HUMAN			13	1760	-			492						Silent	SNP	ENST00000556564.1	37	c.1476C>T	CCDS9884.1																																																																																				0.677	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1	0			14:88946299
PCDH9	5101	broad.mit.edu	37	13	66878849	66878849	+	Missense_Mutation	SNP	T	T	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr13:66878849T>A	ENST00000377865.2	-	4	3786	c.3652A>T	c.(3652-3654)Aat>Tat	p.N1218Y	PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000456367.1_Missense_Mutation_p.N1184Y|PCDH9_ENST00000328454.5_Missense_Mutation_p.N1184Y|PCDH9_ENST00000544246.1_Missense_Mutation_p.N1218Y			Q9HC56	PCDH9_HUMAN	protocadherin 9	1218					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GACTTCAGATTTGCCAGAGGA	0.438																																						ENST00000544246.1		NA																	0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(3652-3654)Aat>Tat		protocadherin 9							125.0	113.0	117.0					13																	66878849		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:66878849T>A	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3652A>T	13.37:g.66878849T>A	ENSP00000367096:p.Asn1218Tyr	True	False		Somatic	0				PCDH9_ENST00000328454.5_Missense_Mutation_p.N1184Y|PCDH9_ENST00000456367.1_Missense_Mutation_p.N1184Y|PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000377865.2_Missense_Mutation_p.N1218Y	p.N1218Y	NM_203487.2	NP_982354.1	WXS	Illumina HiSeq	Phase_I	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	5	4343	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	1218					A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.3652A>T	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	T	15.50	2.852432	0.51270	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454	T;T;T;T	0.55588	0.58;0.58;0.51;0.51	6.05	6.05	0.98169	.	0.000000	0.50627	D	0.000113	T	0.43389	0.1245	N	0.19112	0.55	0.41796	D	0.989894	B;B;B	0.23442	0.085;0.042;0.085	B;B;B	0.28139	0.064;0.086;0.064	T	0.36890	-0.9729	10	0.56958	D	0.05	.	16.5932	0.84781	0.0:0.0:0.0:1.0	.	1176;1184;1218	B7ZM79;Q9HC56-2;Q9HC56	.;.;PCDH9_HUMAN	Y	1218;1218;1184;1184	ENSP00000442186:N1218Y;ENSP00000367096:N1218Y;ENSP00000401699:N1184Y;ENSP00000332060:N1184Y	ENSP00000332060:N1184Y	N	-	1	0	PCDH9	65776850	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.698000	0.84413	2.320000	0.78422	0.528000	0.53228	AAT		0.438	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	0	NM_203487		13:66878849
ITGB2	3689	broad.mit.edu	37	21	46306690	46306690	+	Silent	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr21:46306690C>T	ENST00000397850.2	-	16	2660	c.2208G>A	c.(2206-2208)agG>agA	p.R736R	ITGB2_ENST00000302347.5_Silent_p.R736R|ITGB2_ENST00000397852.1_Silent_p.R736R|ITGB2_ENST00000397854.3_Silent_p.R679R|ITGB2_ENST00000397857.1_Silent_p.R736R|ITGB2_ENST00000355153.4_Silent_p.R736R			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	736					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	TCTCAAAGCGCCTGTACTCCC	0.617																																						ENST00000397850.2		NA																	0				breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35						c.(2206-2208)agG>agA		integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	Simvastatin(DB00641)						100.0	83.0	89.0					21																	46306690		2203	4300	6503	SO:0001819	synonymous_variant	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46306690C>T	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.2208G>A	21.37:g.46306690C>T		False	False		Somatic	0				ITGB2_ENST00000397857.1_Silent_p.R736R|ITGB2_ENST00000397854.3_Silent_p.R679R|ITGB2_ENST00000302347.5_Silent_p.R736R|ITGB2_ENST00000355153.4_Silent_p.R736R|ITGB2_ENST00000397852.1_Silent_p.R736R	p.R736R			WXS	Illumina HiSeq	Phase_I	P05107	ITB2_HUMAN		Colorectal(79;0.0669)	16	2660	-			736					B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Silent	SNP	ENST00000397850.2	37	c.2208G>A	CCDS13716.1																																																																																				0.617	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	0	NM_000211		21:46306690
HYDIN	54768	broad.mit.edu	37	16	70866926	70866926	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr16:70866926C>A	ENST00000393567.2	-	80	13874	c.13724G>T	c.(13723-13725)aGc>aTc	p.S4575I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4575					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTCTTCTGGGCTAATGGAGAA	0.408																																						ENST00000393567.2		NA																	0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(13723-13725)aGc>aTc		HYDIN, axonemal central pair apparatus protein							12.0	11.0	11.0					16																	70866926		1774	4001	5775	SO:0001583	missense	54768							g.chr16:70866926C>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.13724G>T	16.37:g.70866926C>A	ENSP00000377197:p.Ser4575Ile	True	False		Somatic	0					p.S4575I	NM_001270974.1	NP_001257903.1	WXS	Illumina HiSeq	Phase_I	Q4G0P3	HYDIN_HUMAN			80	13874	-		Ovarian(137;0.0654)	4575					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.13724G>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.244960	0.39697	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01092	5.35	4.62	-0.853	0.10709	.	0.182103	0.24965	U	0.034191	T	0.01835	0.0058	M	0.78801	2.425	0.09310	N	1	B	0.32862	0.387	B	0.34418	0.182	T	0.38436	-0.9661	10	0.34782	T	0.22	.	8.4169	0.32676	0.0:0.4301:0.424:0.1459	.	4574	F8WD23	.	I	4575;4574	ENSP00000377197:S4575I	ENSP00000313052:S4574I	S	-	2	0	HYDIN	69424427	0.000000	0.05858	0.991000	0.47740	0.958000	0.62258	-0.587000	0.05780	0.231000	0.21079	0.511000	0.50034	AGC		0.408	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3	0			16:70866926
ADAD2	161931	broad.mit.edu	37	16	84228145	84228145	+	Silent	SNP	G	G	A	rs541603528		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr16:84228145G>A	ENST00000315906.5	+	2	568	c.516G>A	c.(514-516)gcG>gcA	p.A172A	RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000561900.1_RNA|ADAD2_ENST00000268624.3_Silent_p.A244A	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	172	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						AGCAGGCAGCGCTCTCTGCCC	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		18538	0.001		0.0	False		,,,				2504	0.0					ENST00000268624.3		NA																	0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						c.(730-732)gcG>gcA		adenosine deaminase domain containing 2							43.0	39.0	41.0					16																	84228145		2200	4299	6499	SO:0001819	synonymous_variant	161931				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding	g.chr16:84228145G>A	AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.516G>A	16.37:g.84228145G>A		True	False		Somatic	0				RP11-486L19.2_ENST00000561900.1_RNA|ADAD2_ENST00000315906.5_Silent_p.A172A|RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA	p.A244A	NM_139174.3	NP_631913.3	WXS	Illumina HiSeq	Phase_I	Q8NCV1	ADAD2_HUMAN			3	825	+			172					B2RCL6|Q8NA94	Silent	SNP	ENST00000315906.5	37	c.732G>A	CCDS45536.1	.	.	.	.	.	.	.	.	.	.	G	1.347	-0.592612	0.03799	.	.	ENSG00000250685	ENST00000536986	.	.	.	4.15	-8.3	0.01005	.	0.000000	0.51477	D	0.000099	T	0.12050	0.0293	.	.	.	0.23791	N	0.996838	P	0.37997	0.614	B	0.29785	0.107	T	0.04825	-1.0924	8	0.87932	D	0	-25.5618	1.4709	0.02415	0.2479:0.1681:0.4182:0.1658	.	73	Q6ZW55	.	V	59	.	ENSP00000444170:A59V	A	-	2	0	AC009123.1	82785646	0.000000	0.05858	0.003000	0.11579	0.170000	0.22686	-3.759000	0.00373	-2.298000	0.00660	-1.291000	0.01355	GCG		0.642	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	0	NM_139174		16:84228145
STXBP4	252983	broad.mit.edu	37	17	53158469	53158469	+	Missense_Mutation	SNP	C	C	T	rs199941077	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr17:53158469C>T	ENST00000376352.2	+	16	1621	c.1414C>T	c.(1414-1416)Cgt>Tgt	p.R472C	STXBP4_ENST00000434978.2_Missense_Mutation_p.R450C	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	472					cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						AAGGAATGGACGTAGCATCCC	0.398													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17175	0.0		0.0	False		,,,				2504	0.0					ENST00000376352.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						c.(1414-1416)Cgt>Tgt		syntaxin binding protein 4							136.0	123.0	127.0					17																	53158469		2203	4300	6503	SO:0001583	missense	252983					cytoplasm	calcium ion binding	g.chr17:53158469C>T	BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.1414C>T	17.37:g.53158469C>T	ENSP00000365530:p.Arg472Cys	False	False		Somatic	0				STXBP4_ENST00000434978.2_Missense_Mutation_p.R450C	p.R472C	NM_178509.5	NP_848604.3	WXS	Illumina HiSeq	Phase_I	Q6ZWJ1	STXB4_HUMAN			16	1621	+			472					Q8IVZ5	Missense_Mutation	SNP	ENST00000376352.2	37	c.1414C>T	CCDS11584.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.85	2.954687	0.53293	.	.	ENSG00000166263	ENST00000376352;ENST00000434978	T;T	0.48201	0.82;0.82	5.47	4.5	0.54988	.	0.308438	0.36234	N	0.002705	T	0.50069	0.1594	M	0.63428	1.95	0.80722	D	1	D;D	0.60160	0.973;0.987	B;P	0.45610	0.325;0.487	T	0.58312	-0.7658	10	0.87932	D	0	-5.9541	13.5669	0.61824	0.1561:0.8439:0.0:0.0	.	450;472	E7EPP7;Q6ZWJ1	.;STXB4_HUMAN	C	472;450	ENSP00000365530:R472C;ENSP00000391087:R450C	ENSP00000365530:R472C	R	+	1	0	STXBP4	50513468	0.902000	0.30710	0.162000	0.22713	0.460000	0.32559	2.902000	0.48703	1.513000	0.48852	0.650000	0.86243	CGT		0.398	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157184.1	0	NM_178509		17:53158469
WFDC10A	140832	broad.mit.edu	37	20	44258532	44258532	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr20:44258532A>T	ENST00000372643.3	+	1	368	c.80A>T	c.(79-81)aAg>aTg	p.K27M	WFDC9_ENST00000326000.1_Intron	NM_080753.2	NP_542791.1	Q9H1F0	WF10A_HUMAN	WAP four-disulfide core domain 10A	27						extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(2)	2		Myeloproliferative disorder(115;0.0122)				CGTGACAAGAAGAGGATGCAG	0.587											OREG0025983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000372643.3		NA																	0				large_intestine(2)	2						c.(79-81)aAg>aTg		WAP four-disulfide core domain 10A							164.0	128.0	140.0					20																	44258532		2203	4300	6503	SO:0001583	missense	140832					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44258532A>T	AL031671	CCDS13363.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000180305	ENSG00000180305		"""WAP four-disulfide core domain containing"""	16139	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 146"""	C20orf146		12206714	Standard	NM_080753		Approved	dJ688G8.3, WAP10	uc002xoz.3	Q9H1F0	OTTHUMG00000046331	ENST00000372643.3:c.80A>T	20.37:g.44258532A>T	ENSP00000361726:p.Lys27Met	False	False		Somatic	0	OREG0025983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	922	WFDC9_ENST00000326000.1_Intron	p.K27M	NM_080753.2	NP_542791.1	WXS	Illumina HiSeq	Phase_I	Q9H1F0	WF10A_HUMAN			1	368	+		Myeloproliferative disorder(115;0.0122)	27					A2RRE9|Q5TGZ7	Missense_Mutation	SNP	ENST00000372643.3	37	c.80A>T	CCDS13363.1	.	.	.	.	.	.	.	.	.	.	A	10.60	1.394655	0.25205	.	.	ENSG00000180305	ENST00000372643	T	0.20069	2.1	2.43	-1.2	0.09554	.	3.060220	0.01594	N	0.021727	T	0.26159	0.0638	.	.	.	0.09310	N	1	D	0.69078	0.997	P	0.53912	0.737	T	0.11542	-1.0583	9	0.37606	T	0.19	.	2.1255	0.03737	0.4267:0.0:0.3261:0.2472	.	27	Q9H1F0	WF10A_HUMAN	M	27	ENSP00000361726:K27M	ENSP00000361726:K27M	K	+	2	0	WFDC10A	43691946	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	-0.356000	0.07661	-0.311000	0.08754	-0.274000	0.10170	AAG		0.587	WFDC10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106944.2	0			20:44258532
ZSCAN21	7589	broad.mit.edu	37	7	99654807	99654807	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr7:99654807C>T	ENST00000292450.4	+	2	342	c.178C>T	c.(178-180)Cga>Tga	p.R60*	ZSCAN21_ENST00000543588.1_Nonsense_Mutation_p.R60*|ZSCAN21_ENST00000456748.2_Nonsense_Mutation_p.R60*|ZSCAN21_ENST00000477297.1_3'UTR	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	60	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CCCTGGACCCCGAGAGGCCCT	0.577																																						ENST00000292450.4		NA																	0				breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21						c.(178-180)Cga>Tga		zinc finger and SCAN domain containing 21							67.0	69.0	68.0					7																	99654807		2203	4300	6503	SO:0001587	stop_gained	7589				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99654807C>T	AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"""-"", ""Zinc fingers, C2H2-type"""	13104	protein-coding gene	gene with protein product		601261	"""zinc finger protein 38 (KOX 25)"", ""zinc finger protein 38"""	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.178C>T	7.37:g.99654807C>T	ENSP00000292450:p.Arg60*	True	False		Somatic	0				ZSCAN21_ENST00000543588.1_Nonsense_Mutation_p.R60*|ZSCAN21_ENST00000477297.1_3'UTR|ZSCAN21_ENST00000456748.2_Nonsense_Mutation_p.R60*	p.R60*	NM_145914.2	NP_666019.1	WXS	Illumina HiSeq	Phase_I	Q9Y5A6	ZSC21_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		2	342	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		60			SCAN box.		A4D2A6|D6W5T9|Q9H0B5	Nonsense_Mutation	SNP	ENST00000292450.4	37	c.178C>T	CCDS5681.1	.	.	.	.	.	.	.	.	.	.	C	32	5.126050	0.94429	.	.	ENSG00000166529	ENST00000543588;ENST00000292450;ENST00000456748;ENST00000438937;ENST00000379635	.	.	.	4.91	3.06	0.35304	.	0.000000	0.35436	N	0.003206	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.9397	0.19186	0.189:0.7149:0.0:0.0962	.	.	.	.	X	60	.	ENSP00000292450:R60X	R	+	1	2	ZSCAN21	99492743	0.350000	0.24878	0.968000	0.41197	0.669000	0.39330	0.544000	0.23253	0.758000	0.33059	0.655000	0.94253	CGA		0.577	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336166.1	0	NM_145914		7:99654807
FGF7	2252	broad.mit.edu	37	15	49776634	49776634	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr15:49776634C>T	ENST00000267843.4	+	4	1129	c.518C>T	c.(517-519)cCt>cTt	p.P173L	FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron|FGF7_ENST00000560704.1_3'UTR	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	173					actin cytoskeleton reorganization (GO:0031532)|branching involved in salivary gland morphogenesis (GO:0060445)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle morphogenesis (GO:0031069)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization to cell surface (GO:0034394)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|response to wounding (GO:0009611)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)		AAGGGGATTCCTGTAAGAGGA	0.363																																						ENST00000267843.4		NA																	0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(517-519)cCt>cTt		fibroblast growth factor 7	Palifermin(DB00039)						22.0	22.0	22.0					15																	49776634		2016	3846	5862	SO:0001583	missense	2252				actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity	g.chr15:49776634C>T	M60828	CCDS10131.1	15q21.2	2014-01-30	2010-08-18		ENSG00000140285	ENSG00000140285		"""Endogenous ligands"""	3685	protein-coding gene	gene with protein product	"""keratinocyte growth factor"""	148180	"""fibroblast growth factor 7 (keratinocyte growth factor)"""			7749227, 1409637	Standard	NM_002009		Approved	KGF	uc001zxn.3	P21781	OTTHUMG00000131517	ENST00000267843.4:c.518C>T	15.37:g.49776634C>T	ENSP00000267843:p.Pro173Leu	False	False		Somatic	0				FAM227B_ENST00000299338.6_Intron|FGF7_ENST00000560704.1_3'UTR|FAM227B_ENST00000561064.1_Intron	p.P173L	NM_002009.3	NP_002000.1	WXS	Illumina HiSeq	Phase_I	P21781	FGF7_HUMAN		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	4	1129	+		all_lung(180;0.00391)	173					H0YNY5|Q6FGV5|Q96FG5	Missense_Mutation	SNP	ENST00000267843.4	37	c.518C>T	CCDS10131.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389361	0.82902	.	.	ENSG00000140285	ENST00000267843	D	0.82619	-1.63	5.81	5.81	0.92471	.	0.161108	0.56097	D	0.000032	D	0.90734	0.7092	.	.	.	0.80722	D	1	D	0.71674	0.998	D	0.67725	0.953	D	0.89600	0.3834	9	0.44086	T	0.13	.	19.6764	0.95936	0.0:1.0:0.0:0.0	.	173	P21781	FGF7_HUMAN	L	173	ENSP00000267843:P173L	ENSP00000267843:P173L	P	+	2	0	FGF7	47563926	1.000000	0.71417	0.913000	0.36048	0.986000	0.74619	7.626000	0.83164	2.730000	0.93505	0.650000	0.86243	CCT		0.363	FGF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254374.3	0	NM_002009		15:49776634
CKAP2	26586	broad.mit.edu	37	13	53035900	53035900	+	Silent	SNP	A	A	G			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr13:53035900A>G	ENST00000378037.5	+	4	1032	c.942A>G	c.(940-942)ctA>ctG	p.L314L	CKAP2_ENST00000378034.3_Silent_p.L313L|CKAP2_ENST00000490903.1_Silent_p.L265L|CKAP2_ENST00000258607.5_Silent_p.L313L	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3			cytoskeleton associated protein 2											breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		ATAAGACTCTATCAAGATCCA	0.388																																						ENST00000378037.5		NA																	0				breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20						c.(940-942)ctA>ctG		cytoskeleton associated protein 2							77.0	82.0	81.0					13																	53035900		2203	4300	6503	SO:0001819	synonymous_variant	0				apoptosis|cell cycle	centrosome|microtubule|spindle pole		g.chr13:53035900A>G	AF177227	CCDS9435.1, CCDS41893.1, CCDS66557.1, CCDS73578.1	13q14	2014-03-21			ENSG00000136108	ENSG00000136108			1990	protein-coding gene	gene with protein product		611569				9771967	Standard	XM_005266343		Approved	LB1, FLJ10749, se20-10, TMAP	uc001vgv.2	Q8WWK9	OTTHUMG00000016967	ENST00000378037.5:c.942A>G	13.37:g.53035900A>G		False	False		Somatic	0				CKAP2_ENST00000490903.1_Silent_p.L265L|CKAP2_ENST00000378034.3_Silent_p.L313L|CKAP2_ENST00000258607.5_Silent_p.L313L	p.L314L	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3	WXS	Illumina HiSeq	Phase_I	Q8WWK9	CKAP2_HUMAN		GBM - Glioblastoma multiforme(99;2.6e-08)	4	1032	+		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	314						Silent	SNP	ENST00000378037.5	37	c.942A>G	CCDS41893.1																																																																																				0.388	CKAP2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355010.2	0			13:53035900
ASPM	259266	broad.mit.edu	37	1	197112823	197112823	+	Silent	SNP	T	T	G	rs201333656		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:197112823T>G	ENST00000367409.4	-	3	815	c.559A>C	c.(559-561)Aga>Cga	p.R187R	ASPM_ENST00000294732.7_Silent_p.R187R	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	187					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTCCTAACTCTGTCAACTTTT	0.343																																						ENST00000367409.4		NA																	0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(559-561)Aga>Cga		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							53.0	56.0	55.0					1																	197112823		2203	4299	6502	SO:0001819	synonymous_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197112823T>G	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.559A>C	1.37:g.197112823T>G		False	False		Somatic	0				ASPM_ENST00000294732.7_Silent_p.R187R	p.R187R	NM_018136.4	NP_060606.3	WXS	Illumina HiSeq	Phase_I	Q8IZT6	ASPM_HUMAN			3	815	-			187					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.559A>C	CCDS1389.1																																																																																				0.343	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	0	NM_018136		1:197112823
ZC3HAV1	56829	broad.mit.edu	37	7	138749667	138749667	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr7:138749667G>A	ENST00000242351.5	-	8	2267	c.1951C>T	c.(1951-1953)Cca>Tca	p.P651S	ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.P651S|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.P773S	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	651	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						GCCTGAAATGGCACAACTCCC	0.453																																						ENST00000242351.5		NA																	0				cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						c.(1951-1953)Cca>Tca		zinc finger CCCH-type, antiviral 1							131.0	122.0	125.0					7																	138749667		2203	4300	6503	SO:0001583	missense	56829				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	g.chr7:138749667G>A	BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.1951C>T	7.37:g.138749667G>A	ENSP00000242351:p.Pro651Ser	False	False		Somatic	0				ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.P773S|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.P651S	p.P651S	NM_020119.3	NP_064504.2	WXS	Illumina HiSeq	Phase_I	Q7Z2W4	ZCCHV_HUMAN			8	2267	-			651			WWE.		A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	ENST00000242351.5	37	c.1951C>T	CCDS5851.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.022|9.022	0.985173|0.985173	0.18889|0.18889	.|.	.|.	ENSG00000105939|ENSG00000105939	ENST00000460845|ENST00000242351;ENST00000464606;ENST00000471652;ENST00000540247	.|T;T;T	.|0.27402	.|1.67;1.67;1.67	4.32|4.32	1.18|1.18	0.20946|0.20946	.|WWE domain (1);	.|0.865061	.|0.09843	.|N	.|0.748673	T|T	0.17323|0.17323	0.0416|0.0416	N|N	0.26130|0.26130	0.795|0.795	0.09310|0.09310	N|N	1|1	.|B;B	.|0.13594	.|0.003;0.008	.|B;B	.|0.11329	.|0.004;0.006	T|T	0.32188|0.32188	-0.9916|-0.9916	5|10	.|0.16896	.|T	.|0.51	.|.	4.2286|4.2286	0.10592|0.10592	0.0932:0.1468:0.5896:0.1704|0.0932:0.1468:0.5896:0.1704	.|.	.|651;651	.|Q7Z2W4-2;Q7Z2W4	.|.;ZCCHV_HUMAN	V|S	215|651;773;651;411	.|ENSP00000242351:P651S;ENSP00000418385:P773S;ENSP00000419855:P651S	.|ENSP00000242351:P651S	A|P	-|-	2|1	0|0	ZC3HAV1|ZC3HAV1	138400207|138400207	0.001000|0.001000	0.12720|0.12720	0.027000|0.027000	0.17364|0.17364	0.001000|0.001000	0.01503|0.01503	0.409000|0.409000	0.21082|0.21082	0.536000|0.536000	0.28733|0.28733	-0.293000|-0.293000	0.09583|0.09583	GCC|CCA		0.453	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	0	NM_020119		7:138749667
CROCCP2	84809	broad.mit.edu	37	1	16945566	16945566	+	lincRNA	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:16945566C>T	ENST00000412962.1	-	0	1953				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TCTCTGACAGCGCCATCTTCT	0.622																																						ENST00000412962.1		NA																	0					NA																																														0							g.chr1:16945566C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16945566C>T		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	1953	-			NA					Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.622	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	0	NR_026752.1		1:16945566
TCERG1L	256536	broad.mit.edu	37	10	133058648	133058648	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr10:133058648C>T	ENST00000368642.4	-	4	815	c.730G>A	c.(730-732)Gcc>Acc	p.A244T		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	244	Poly-Ala.									cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		gcagcggcggcggcggtggcg	0.662																																						ENST00000368642.4		NA																	0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(730-732)Gcc>Acc		transcription elongation regulator 1-like							16.0	18.0	18.0					10																	133058648		2193	4283	6476	SO:0001583	missense	256536							g.chr10:133058648C>T	AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.730G>A	10.37:g.133058648C>T	ENSP00000357631:p.Ala244Thr	True	False		Somatic	0					p.A244T	NM_174937.3	NP_777597.2	WXS	Illumina HiSeq	Phase_I	Q5VWI1	TCRGL_HUMAN		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)	4	815	-		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)	244			Poly-Ala.		Q5VWI2|Q86XM8	Missense_Mutation	SNP	ENST00000368642.4	37	c.730G>A	CCDS7662.2	.	.	.	.	.	.	.	.	.	.	C	9.872	1.199205	0.22121	.	.	ENSG00000176769	ENST00000368642	T	0.30448	1.53	4.78	2.6	0.31112	.	0.315243	0.26439	N	0.024363	T	0.14700	0.0355	N	0.19112	0.55	0.09310	N	1	B	0.25850	0.136	B	0.15052	0.012	T	0.10337	-1.0634	9	.	.	.	-6.2774	6.1164	0.20130	0.1907:0.6978:0.0:0.1115	.	244	Q5VWI1	TCRGL_HUMAN	T	244	ENSP00000357631:A244T	.	A	-	1	0	TCERG1L	132948638	0.050000	0.20438	0.652000	0.29579	0.039000	0.13416	0.093000	0.15086	2.189000	0.69895	0.655000	0.94253	GCC		0.662	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	0	NM_174937		10:133058648
KSR2	283455	broad.mit.edu	37	12	117914339	117914339	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:117914339G>A	ENST00000339824.5	-	17	3239	c.2512C>T	c.(2512-2514)Cgc>Tgc	p.R838C	KSR2_ENST00000425217.1_Missense_Mutation_p.R809C|KSR2_ENST00000302438.5_3'UTR			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	838	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GACAGCTGGCGGATGATCTCT	0.582																																						ENST00000425217.1		NA																	0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(2425-2427)Cgc>Tgc		kinase suppressor of ras 2							61.0	74.0	69.0					12																	117914339		2071	4213	6284	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117914339G>A	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.2512C>T	12.37:g.117914339G>A	ENSP00000339952:p.Arg838Cys	False	False		Somatic	0				KSR2_ENST00000339824.5_Missense_Mutation_p.R838C|KSR2_ENST00000302438.5_3'UTR	p.R809C	NM_173598.4	NP_775869.3	WXS	Illumina HiSeq	Phase_I	Q6VAB6	KSR2_HUMAN			17	2479	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		838			Protein kinase.		A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.2425C>T		.	.	.	.	.	.	.	.	.	.	G	15.89	2.965842	0.53507	.	.	ENSG00000171435	ENST00000425217;ENST00000339824	D;D	0.83419	-1.72;-1.72	5.69	4.81	0.61882	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.057415	0.64402	D	0.000001	D	0.85217	0.5646	M	0.89904	3.07	0.58432	D	0.999999	B	0.19935	0.04	B	0.19391	0.025	D	0.83736	0.0201	10	0.66056	D	0.02	.	10.7666	0.46297	0.1442:0.0:0.8558:0.0	.	838	Q6VAB6	KSR2_HUMAN	C	809;838	ENSP00000389715:R809C;ENSP00000339952:R838C	ENSP00000339952:R838C	R	-	1	0	KSR2	116398722	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	8.061000	0.89467	1.407000	0.46875	-0.142000	0.14014	CGC		0.582	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	0	NM_173598		12:117914339
FRG1B	284802	broad.mit.edu	37	20	29625908	29625908	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr20:29625908G>A	ENST00000278882.3	+	5	532	c.152G>A	c.(151-153)gGt>gAt	p.G51D	FRG1B_ENST00000358464.4_Missense_Mutation_p.G51D|FRG1B_ENST00000439954.2_Missense_Mutation_p.G56D			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	51										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AAATATCTTGGTATAAATTCA	0.323																																						ENST00000278882.3		NA																	0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(151-153)gGt>gAt																																						SO:0001583	missense	0							g.chr20:29625908G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.152G>A	20.37:g.29625908G>A	ENSP00000278882:p.Gly51Asp	False	False		Somatic	0				FRG1B_ENST00000439954.2_Missense_Mutation_p.G56D|FRG1B_ENST00000358464.4_Missense_Mutation_p.G51D	p.G51D			WXS	Illumina HiSeq	Phase_I					5	532	+			NA					C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.152G>A		.	.	.	.	.	.	.	.	.	.	g	12.26	1.884329	0.33255	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50813	0.73	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.64427	0.2597	.	.	.	0.54753	D	0.999982	D	0.69078	0.997	D	0.91635	0.999	T	0.67515	-0.5651	9	0.72032	D	0.01	.	9.3557	0.38164	0.0:0.0:1.0:0.0	.	56	F5H5R5	.	D	51;56;51	ENSP00000408863:G56D	ENSP00000278882:G51D	G	+	2	0	FRG1B	28239569	1.000000	0.71417	1.000000	0.80357	0.037000	0.13140	8.114000	0.89570	1.250000	0.43966	0.184000	0.17185	GGT		0.323	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	0	NR_003579		20:29625908
CCDC105	126402	broad.mit.edu	37	19	15131402	15131402	+	Nonsense_Mutation	SNP	C	C	T	rs372493151		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:15131402C>T	ENST00000292574.3	+	3	887	c.805C>T	c.(805-807)Cga>Tga	p.R269*		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	269						extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						GAACCTCTCCCGAGCCCCCAC	0.597																																						ENST00000292574.3		NA																	0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						c.(805-807)Cga>Tga		coiled-coil domain containing 105		C	stop/ARG	0,4406		0,0,2203	55.0	51.0	52.0		805	-1.6	0.2	19		52	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	CCDC105	NM_173482.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		269/500	15131402	1,13005	2203	4300	6503	SO:0001587	stop_gained	126402				microtubule cytoskeleton organization	microtubule		g.chr19:15131402C>T	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.805C>T	19.37:g.15131402C>T	ENSP00000292574:p.Arg269*	True	False		Somatic	0					p.R269*	NM_173482.2	NP_775753.2	WXS	Illumina HiSeq	Phase_I	Q8IYK2	CC105_HUMAN			3	887	+			269					Q8N7T5|Q8NDL5	Nonsense_Mutation	SNP	ENST00000292574.3	37	c.805C>T	CCDS12322.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528521	0.64860	0.0	1.16E-4	ENSG00000160994	ENST00000292574	.	.	.	4.09	-1.59	0.08453	.	0.492673	0.16678	N	0.204050	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.9272	5.0347	0.14428	0.5189:0.3698:0.0:0.1113	.	.	.	.	X	269	.	ENSP00000292574:R269X	R	+	1	2	CCDC105	14992402	0.001000	0.12720	0.185000	0.23176	0.317000	0.28152	-0.171000	0.09883	-0.391000	0.07763	0.558000	0.71614	CGA		0.597	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	0	NM_173482		19:15131402
SEMA3A	10371	broad.mit.edu	37	7	83764207	83764207	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr7:83764207T>C	ENST00000265362.4	-	2	487	c.173A>G	c.(172-174)cAt>cGt	p.H58R	SEMA3A_ENST00000436949.1_Missense_Mutation_p.H58R	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	58	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						AAGGAAGGTATGATAACTGGA	0.388																																						ENST00000265362.4		NA																	0				breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(172-174)cAt>cGt		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A							114.0	106.0	109.0					7																	83764207		2203	4300	6503	SO:0001583	missense	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83764207T>C	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.173A>G	7.37:g.83764207T>C	ENSP00000265362:p.His58Arg	False	False		Somatic	0				SEMA3A_ENST00000436949.1_Missense_Mutation_p.H58R	p.H58R	NM_006080.2	NP_006071.1	WXS	Illumina HiSeq	Phase_I	Q14563	SEM3A_HUMAN			2	487	-			NA			Sema.			Missense_Mutation	SNP	ENST00000265362.4	37	c.173A>G	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	t	6.858	0.527583	0.13127	.	.	ENSG00000075213	ENST00000265362;ENST00000436949;ENST00000420047	T;T;T	0.20332	2.08;2.08;2.08	4.93	4.93	0.64822	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.251915	0.47455	D	0.000223	T	0.12178	0.0296	N	0.12422	0.21	0.58432	D	0.999995	B	0.24132	0.098	B	0.31191	0.125	T	0.04537	-1.0944	10	0.02654	T	1	.	14.8712	0.70459	0.0:0.0:0.0:1.0	.	58	Q14563	SEM3A_HUMAN	R	58	ENSP00000265362:H58R;ENSP00000415260:H58R;ENSP00000391900:H58R	ENSP00000265362:H58R	H	-	2	0	SEMA3A	83602143	1.000000	0.71417	0.992000	0.48379	0.987000	0.75469	7.596000	0.82721	1.970000	0.57323	0.383000	0.25322	CAT		0.388	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	0	NM_006080		7:83764207
RSPH6A	81492	broad.mit.edu	37	19	46307741	46307741	+	Silent	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:46307741C>T	ENST00000221538.3	-	3	1564	c.1422G>A	c.(1420-1422)ccG>ccA	p.P474P	RSPH6A_ENST00000600188.1_Silent_p.P210P|RSPH6A_ENST00000597055.1_Silent_p.P474P	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	474						intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						CCTCGTTGCCCGGGAAGGGTG	0.632																																						ENST00000221538.3		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						c.(1420-1422)ccG>ccA		radial spoke head 6 homolog A (Chlamydomonas)							73.0	60.0	65.0					19																	46307741		2203	4300	6503	SO:0001819	synonymous_variant	81492					intracellular		g.chr19:46307741C>T	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.1422G>A	19.37:g.46307741C>T		True	False		Somatic	0				RSPH6A_ENST00000597055.1_Silent_p.P474P|RSPH6A_ENST00000600188.1_Silent_p.P210P	p.P474P	NM_030785.3	NP_110412.1	WXS	Illumina HiSeq	Phase_I	Q9H0K4	RSH6A_HUMAN			3	1564	-			474					Q53FE2|Q6PEZ9	Silent	SNP	ENST00000221538.3	37	c.1422G>A	CCDS12675.1																																																																																				0.632	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1	0			19:46307741
POTEE	445582	broad.mit.edu	37	2	132021474	132021474	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:132021474C>T	ENST00000356920.5	+	15	2540	c.2446C>T	c.(2446-2448)Cgc>Tgc	p.R816C	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	816	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.R816C(1)									CAAGGCCAACCGCGAGAAGAT	0.612																																						ENST00000356920.5		NA																	1	Substitution - Missense(1)	p.R816C(1)	endometrium(1)		NA						c.(2446-2448)Cgc>Tgc		POTE ankyrin domain family, member E							76.0	79.0	78.0					2																	132021474		2132	4201	6333	SO:0001583	missense	445582						ATP binding	g.chr2:132021474C>T	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2446C>T	2.37:g.132021474C>T	ENSP00000439189:p.Arg816Cys	False	False		Somatic	0				POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	p.R816C	NM_001083538.1	NP_001077007.1	WXS	Illumina HiSeq	Phase_I	Q6S8J3	POTEE_HUMAN			15	2540	+			816			Actin-like.		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.2446C>T	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	13.51	2.259391	0.39995	.	.	ENSG00000188219	ENST00000356920	D	0.97114	-4.25	.	.	.	Actin/actin-like conserved site (1);	.	.	.	.	D	0.98988	0.9655	H	0.99954	5.04	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.95089	0.8220	8	0.87932	D	0	.	2.8768	0.05634	0.4949:0.5045:2.0E-4:3.0E-4	.	816	Q6S8J3	POTEE_HUMAN	C	816	ENSP00000439189:R816C	ENSP00000439189:R816C	R	+	1	0	AC131180.1	131737944	1.000000	0.71417	0.221000	0.23827	0.224000	0.24922	3.183000	0.50918	0.119000	0.18210	0.121000	0.15741	CGC		0.612	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	NM_001083538		2:132021474
MAP2	4133	broad.mit.edu	37	2	210574822	210574822	+	Silent	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:210574822G>A	ENST00000360351.4	+	12	5423	c.4917G>A	c.(4915-4917)ccG>ccA	p.P1639P	MAP2_ENST00000392194.1_Silent_p.P283P|MAP2_ENST00000447185.1_Silent_p.P1635P|MAP2_ENST00000199940.6_Silent_p.P340P|MAP2_ENST00000361559.4_Silent_p.P283P|MAP2_ENST00000475600.1_3'UTR	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1639					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TCTTGGTGCCGAGTGAGAAGA	0.542																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4		NA																	0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(4915-4917)ccG>ccA		microtubule-associated protein 2	Estramustine(DB01196)						111.0	101.0	104.0					2																	210574822		2203	4300	6503	SO:0001819	synonymous_variant	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210574822G>A		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4917G>A	2.37:g.210574822G>A		False	False		Somatic	0				MAP2_ENST00000447185.1_Silent_p.P1635P|MAP2_ENST00000199940.6_Silent_p.P340P|MAP2_ENST00000392194.1_Silent_p.P283P|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000361559.4_Silent_p.P283P	p.P1639P	NM_002374.3	NP_002365.3	WXS	Illumina HiSeq	Phase_I	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	12	5423	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	1639					Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	ENST00000360351.4	37	c.4917G>A	CCDS2384.1																																																																																				0.542	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	0	NM_001039538		2:210574822
AQP4	361	broad.mit.edu	37	18	24436417	24436417	+	Missense_Mutation	SNP	C	C	T	rs374302276		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr18:24436417C>T	ENST00000383168.4	-	5	858	c.730G>A	c.(730-732)Gct>Act	p.A244T	AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000440832.3_Missense_Mutation_p.A222T|AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000581374.1_Missense_Mutation_p.A222T|AQP4_ENST00000583022.1_5'UTR	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	244					carbon dioxide transport (GO:0015670)|cellular response to estradiol stimulus (GO:0071392)|cellular response to interferon-gamma (GO:0071346)|female pregnancy (GO:0007565)|hyperosmotic salinity response (GO:0042538)|multicellular organismal water homeostasis (GO:0050891)|protein homooligomerization (GO:0051260)|renal water absorption (GO:0070295)|response to glucocorticoid (GO:0051384)|response to radiation (GO:0009314)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)	porin activity (GO:0015288)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					AGGCCACCAGCGAGGACAGCT	0.433																																						ENST00000383168.4		NA																	0				kidney(2)|large_intestine(3)|lung(5)|skin(1)	11						c.(730-732)Gct>Act		aquaporin 4		C	THR/ALA,THR/ALA	0,4406		0,0,2203	83.0	82.0	82.0		730,664	5.8	1.0	18		82	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	AQP4	NM_001650.4,NM_004028.3	58,58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	244/324,222/302	24436417	2,13004	2203	4300	6503	SO:0001583	missense	361				cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity	g.chr18:24436417C>T	U63622	CCDS11889.1, CCDS58617.1	18q11.2-q12.1	2005-09-20			ENSG00000171885	ENSG00000171885		"""Ion channels / Aquaporins"""	637	protein-coding gene	gene with protein product		600308				7528931	Standard	NM_001650		Approved	MIWC	uc002kwa.3	P55087	OTTHUMG00000131955	ENST00000383168.4:c.730G>A	18.37:g.24436417C>T	ENSP00000372654:p.Ala244Thr	False	False		Somatic	0				AQP4_ENST00000583022.1_5'UTR|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000440832.3_Missense_Mutation_p.A222T|AQP4_ENST00000581374.1_Missense_Mutation_p.A222T	p.A244T	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	WXS	Illumina HiSeq	Phase_I	P55087	AQP4_HUMAN			5	858	-	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)		244					P78564	Missense_Mutation	SNP	ENST00000383168.4	37	c.730G>A	CCDS11889.1	.	.	.	.	.	.	.	.	.	.	C	35	5.463024	0.96257	0.0	2.33E-4	ENSG00000171885	ENST00000383168;ENST00000440832;ENST00000383170	D	0.96265	-3.96	5.84	5.84	0.93424	Aquaporin-like (2);	0.000000	0.85682	D	0.000000	D	0.98220	0.9411	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.68943	0.961	D	0.98652	1.0680	10	0.87932	D	0	.	20.1535	0.98095	0.0:1.0:0.0:0.0	.	244	P55087	AQP4_HUMAN	T	244;224;140	ENSP00000372654:A244T	ENSP00000372654:A244T	A	-	1	0	AQP4	22690415	1.000000	0.71417	0.966000	0.40874	0.958000	0.62258	7.263000	0.78421	2.764000	0.94973	0.650000	0.86243	GCT		0.433	AQP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254914.2	0	NM_001650, NM_004028		18:24436417
CENPJ	55835	broad.mit.edu	37	13	25466782	25466782	+	Splice_Site	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr13:25466782G>A	ENST00000381884.4	-	10	3400	c.3215C>T	c.(3214-3216)gCg>gTg	p.A1072V	CENPJ_ENST00000545981.1_Splice_Site_p.A1072V	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1072					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CCTGCCTACCGCAAGCTTGTC	0.522																																						ENST00000381884.4		NA																	0				endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3214-3216)gCg>gTg		centromere protein J							124.0	117.0	120.0					13																	25466782		2203	4300	6503	SO:0001630	splice_region_variant	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25466782G>A	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.3216+1C>T	13.37:g.25466782G>A		False	False		Somatic	0				CENPJ_ENST00000545981.1_Splice_Site_p.A1072V	p.A1072V	NM_018451.4	NP_060921.3	WXS	Illumina HiSeq	Phase_I	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	10	3400	-		Lung SC(185;0.0225)|Breast(139;0.0602)	1072					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Splice_Site	SNP	ENST00000381884.4	37	c.3215C>T	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	G	3.659	-0.070010	0.07228	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.34667	1.35;1.82	4.42	0.612	0.17591	.	1.551700	0.03144	N	0.167020	T	0.19208	0.0461	N	0.08118	0	0.09310	N	1	B;B	0.13594	0.008;0.005	B;B	0.11329	0.006;0.003	T	0.15122	-1.0448	10	0.31617	T	0.26	.	3.6362	0.08150	0.5195:0.0:0.3135:0.1669	.	153;1072	Q5T6R6;Q9HC77	.;CENPJ_HUMAN	V	1072	ENSP00000371308:A1072V;ENSP00000441090:A1072V	ENSP00000371308:A1072V	A	-	2	0	CENPJ	24364782	0.001000	0.12720	0.342000	0.25602	0.003000	0.03518	-0.331000	0.07914	0.206000	0.20587	-0.391000	0.06502	GCG		0.522	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	0	NM_018451	Missense_Mutation	13:25466782
STXBP5L	9515	broad.mit.edu	37	3	120959317	120959317	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:120959317C>A	ENST00000273666.6	+	14	1634	c.1363C>A	c.(1363-1365)Ctt>Att	p.L455I	STXBP5L_ENST00000497029.1_Missense_Mutation_p.L455I|STXBP5L_ENST00000492541.1_Missense_Mutation_p.L455I|STXBP5L_ENST00000471454.1_Missense_Mutation_p.L455I|STXBP5L_ENST00000472879.1_Missense_Mutation_p.L455I	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	455					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGCTTGGAACCTTGGAGCACA	0.323																																						ENST00000273666.6		NA																	0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1363-1365)Ctt>Att		syntaxin binding protein 5-like							90.0	88.0	89.0					3																	120959317		1825	4080	5905	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120959317C>A	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.1363C>A	3.37:g.120959317C>A	ENSP00000273666:p.Leu455Ile	False	False		Somatic	0				STXBP5L_ENST00000497029.1_Missense_Mutation_p.L455I|STXBP5L_ENST00000471454.1_Missense_Mutation_p.L455I|STXBP5L_ENST00000472879.1_Missense_Mutation_p.L455I|STXBP5L_ENST00000492541.1_Missense_Mutation_p.L455I	p.L455I	NM_014980.2	NP_055795.1	WXS	Illumina HiSeq	Phase_I	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	14	1634	+			455					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.1363C>A	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.416075	0.25552	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.63096	1.59;-0.02;0.56;0.56;-0.02;-0.02	5.21	0.825	0.18824	WD40 repeat-like-containing domain (2);	0.346259	0.27214	N	0.020399	T	0.52693	0.1750	L	0.55103	1.725	0.47737	D	0.999504	B;B	0.16603	0.018;0.01	B;B	0.19148	0.024;0.021	T	0.46978	-0.9152	10	0.37606	T	0.19	-8.1379	10.0091	0.41975	0.3776:0.554:0.0:0.0684	.	455;455	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	I	455	ENSP00000273666:L455I;ENSP00000420019:L455I;ENSP00000419627:L455I;ENSP00000420287:L455I;ENSP00000420666:L455I;ENSP00000420167:L455I	ENSP00000273666:L455I	L	+	1	0	STXBP5L	122442007	0.232000	0.23762	0.997000	0.53966	0.892000	0.51952	0.713000	0.25794	0.297000	0.22615	-0.397000	0.06425	CTT		0.323	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3	0			3:120959317
OR4F6	390648	broad.mit.edu	37	15	102345944	102345944	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr15:102345944G>A	ENST00000328882.4	+	1	43	c.22G>A	c.(22-24)Gtg>Atg	p.V8M		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CAATCACTCTGTGGTCTCTGA	0.473																																						ENST00000328882.4		NA																	0				breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(22-24)Gtg>Atg		olfactory receptor, family 4, subfamily F, member 6							133.0	121.0	125.0					15																	102345944		2203	4300	6503	SO:0001583	missense	390648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102345944G>A	AC025234	CCDS32341.1	15q26.3	2014-02-19	2002-02-28		ENSG00000184140	ENSG00000184140		"""GPCR / Class A : Olfactory receptors"""	15372	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily F, member 12"""	OR4F12			Standard	NM_001005326		Approved		uc010utr.2	Q8NGB9	OTTHUMG00000172267	ENST00000328882.4:c.22G>A	15.37:g.102345944G>A	ENSP00000327525:p.Val8Met	False	False		Somatic	0					p.V8M	NM_001005326.1	NP_001005326.1	WXS	Illumina HiSeq	Phase_I	Q8NGB9	OR4F6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		1	43	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		8					B9EH28|Q6IF95	Missense_Mutation	SNP	ENST00000328882.4	37	c.22G>A	CCDS32341.1	.	.	.	.	.	.	.	.	.	.	.	7.495	0.651526	0.14516	.	.	ENSG00000184140	ENST00000328882	T	0.20069	2.1	4.68	0.44	0.16572	.	0.780148	0.10877	N	0.624199	T	0.17365	0.0417	L	0.46670	1.46	0.24977	N	0.991629	B	0.25351	0.124	B	0.25405	0.06	T	0.26326	-1.0106	10	0.38643	T	0.18	.	6.7176	0.23312	0.4434:0.0:0.5566:0.0	.	8	Q8NGB9	OR4F6_HUMAN	M	8	ENSP00000327525:V8M	ENSP00000327525:V8M	V	+	1	0	OR4F6	100163467	0.000000	0.05858	0.314000	0.25224	0.168000	0.22595	0.041000	0.13927	-0.002000	0.14469	0.591000	0.81541	GTG		0.473	OR4F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417593.1	0			15:102345944
LCE2C	353140	broad.mit.edu	37	1	152648628	152648628	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:152648628C>A	ENST00000368783.1	+	2	192	c.137C>A	c.(136-138)tCt>tAt	p.S46Y	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	46	Cys-rich.				keratinization (GO:0031424)					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCAGTCTCTTCTTGCTGTGGT	0.627																																						ENST00000368783.1		NA																	0				endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13						c.(136-138)tCt>tAt		late cornified envelope 2C							123.0	131.0	129.0					1																	152648628		2203	4300	6503	SO:0001583	missense	353140				keratinization			g.chr1:152648628C>A		CCDS1019.1	1q21.3	2008-02-05			ENSG00000187180	ENSG00000187180		"""Late cornified envelopes"""	29460	protein-coding gene	gene with protein product		612611				11698679	Standard	NM_178429		Approved	LEP11	uc001fah.4	Q5TA81	OTTHUMG00000012389	ENST00000368783.1:c.137C>A	1.37:g.152648628C>A	ENSP00000357772:p.Ser46Tyr	False	False		Somatic	0				LCE2B_ENST00000417924.2_Intron	p.S46Y	NM_178429.2	NP_848516.1	WXS	Illumina HiSeq	Phase_I	Q5TA81	LCE2C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	192	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		46			Cys-rich.			Missense_Mutation	SNP	ENST00000368783.1	37	c.137C>A	CCDS1019.1	.	.	.	.	.	.	.	.	.	.	C	1.426	-0.571575	0.03882	.	.	ENSG00000187180	ENST00000368783	T	0.06218	3.33	3.39	0.0799	0.14418	.	.	.	.	.	T	0.02727	0.0082	M	0.79805	2.47	0.09310	N	1	P	0.47910	0.902	B	0.35413	0.202	T	0.33523	-0.9865	9	0.87932	D	0	.	5.4015	0.16299	0.0:0.4654:0.4079:0.1267	.	46	Q5TA81	LCE2C_HUMAN	Y	46	ENSP00000357772:S46Y	ENSP00000357772:S46Y	S	+	2	0	LCE2C	150915252	0.023000	0.18921	0.264000	0.24511	0.299000	0.27559	0.291000	0.18994	-0.081000	0.12662	0.563000	0.77884	TCT		0.627	LCE2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034509.1	0	NM_178429		1:152648628
OR2L8	391190	broad.mit.edu	37	1	248112943	248112943	+	Silent	SNP	A	A	C			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:248112943A>C	ENST00000357191.3	+	1	784	c.784A>C	c.(784-786)Aga>Cga	p.R262R	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	262						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(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TCTACGTCCAAGATCCCTGCG	0.483																																						ENST00000357191.3		NA																	0				endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42						c.(784-786)Aga>Cga		olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)							120.0	91.0	101.0					1																	248112943		2203	4297	6500	SO:0001819	synonymous_variant	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112943A>C	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.784A>C	1.37:g.248112943A>C		False	False		Somatic	0				OR2L13_ENST00000366478.2_Intron	p.R262R	NM_001001963.1	NP_001001963.1	WXS	Illumina HiSeq	Phase_I	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	784	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		262					Q6IF03	Silent	SNP	ENST00000357191.3	37	c.784A>C	CCDS31101.1																																																																																				0.483	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2	0			1:248112943
TRH	7200	broad.mit.edu	37	3	129696025	129696025	+	Missense_Mutation	SNP	G	G	A	rs199889071	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:129696025G>A	ENST00000302649.3	+	3	1222	c.695G>A	c.(694-696)cGg>cAg	p.R232Q	TRH_ENST00000507066.1_Missense_Mutation_p.R228Q	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	232					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						CCTGGTCGGCGGGCAGCCTGG	0.617													g|||	54	0.0107827	0.0	0.0	5008	,	,		13422	0.002		0.0	False		,,,				2504	0.0532				Esophageal Squamous(60;321 1330 17401 41911)	ENST00000302649.3		NA																	0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						c.(694-696)cGg>cAg		thyrotropin-releasing hormone		G	GLN/ARG	1,4397		0,1,2198	20.0	21.0	21.0		695	3.5	0.0	3		21	1,8547		0,1,4273	yes	missense	TRH	NM_007117.3	43	0,2,6471	AA,AG,GG		0.0117,0.0227,0.0154	possibly-damaging	232/243	129696025	2,12944	2199	4274	6473	SO:0001583	missense	7200				cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	g.chr3:129696025G>A		CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"""Endogenous ligands"""	12298	protein-coding gene	gene with protein product	"""prothyroliberin"""	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.695G>A	3.37:g.129696025G>A	ENSP00000303452:p.Arg232Gln	True	False		Somatic	0				TRH_ENST00000507066.1_Missense_Mutation_p.R228Q	p.R232Q	NM_007117.3	NP_009048.1	WXS	Illumina HiSeq	Phase_I	P20396	TRH_HUMAN			3	1222	+			232					B2R8R1|Q2TB83	Missense_Mutation	SNP	ENST00000302649.3	37	c.695G>A	CCDS3066.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	8.889	0.953444	0.18431	2.27E-4	1.17E-4	ENSG00000170893	ENST00000302649;ENST00000507066	T;T	0.56941	0.44;0.43	4.42	3.51	0.40186	.	0.302445	0.35013	N	0.003517	T	0.40171	0.1106	L	0.49126	1.545	0.09310	N	0.999999	P	0.48640	0.913	B	0.35240	0.198	T	0.40831	-0.9542	10	0.56958	D	0.05	-6.4951	9.4211	0.38553	0.0:0.0:0.7781:0.2219	.	232	P20396	TRH_HUMAN	Q	232;228	ENSP00000303452:R232Q;ENSP00000426522:R228Q	ENSP00000303452:R232Q	R	+	2	0	TRH	131178715	0.660000	0.27420	0.018000	0.16275	0.005000	0.04900	1.356000	0.34079	1.146000	0.42352	0.563000	0.77884	CGG		0.617	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	0	NM_007117		3:129696025
DHRS2	10202	broad.mit.edu	37	14	24108419	24108419	+	Missense_Mutation	SNP	C	C	T	rs74036809		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr14:24108419C>T	ENST00000250383.6	+	3	648	c.172C>T	c.(172-174)Cgg>Tgg	p.R58W	DHRS2_ENST00000344777.7_Missense_Mutation_p.R58W|DHRS2_ENST00000553896.1_3'UTR	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	58					C21-steroid hormone metabolic process (GO:0008207)|cellular response to oxidative stress (GO:0034599)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	carbonyl reductase (NADPH) activity (GO:0004090)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		ACGTCTGGCCCGGGACGGGGC	0.642													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16784	0.0		0.0	False		,,,				2504	0.0					ENST00000250383.6		NA																	0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(172-174)Cgg>Tgg		dehydrogenase/reductase (SDR family) member 2							76.0	83.0	81.0					14																	24108419		2203	4300	6503	SO:0001583	missense	10202				C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity	g.chr14:24108419C>T		CCDS9604.1, CCDS41927.1	14q11.2	2011-09-14			ENSG00000100867	ENSG00000100867		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18349	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 1"""	615194				7556196, 11944995, 16685466, 19027726	Standard	NM_182908		Approved	HEP27, SDR25C1	uc001wkt.4	Q13268	OTTHUMG00000028771	ENST00000250383.6:c.172C>T	14.37:g.24108419C>T	ENSP00000250383:p.Arg58Trp	True	False		Somatic	0				DHRS2_ENST00000344777.7_Missense_Mutation_p.R58W|DHRS2_ENST00000553896.1_3'UTR	p.R58W	NM_005794.3	NP_005785.1	WXS	Illumina HiSeq	Phase_I	Q13268	DHRS2_HUMAN		GBM - Glioblastoma multiforme(265;0.00659)	3	648	+			36	L -> V (in Ref. 6; AA sequence).				D3DS54|Q53GS4|Q7Z789|Q9H2R2	Missense_Mutation	SNP	ENST00000250383.6	37	c.172C>T	CCDS9604.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	13.16	2.155684	0.38021	.	.	ENSG00000100867	ENST00000432832;ENST00000250383;ENST00000344777	T;T;T	0.45276	0.9;0.9;0.9	4.91	0.99	0.19807	NAD(P)-binding domain (1);	0.667396	0.15085	N	0.281419	T	0.52435	0.1734	M	0.78285	2.405	0.22591	N	0.998957	D;D;D;P	0.69078	0.991;0.978;0.997;0.875	P;P;P;B	0.56648	0.773;0.773;0.803;0.193	T	0.43782	-0.9370	10	0.87932	D	0	.	5.0764	0.14634	0.2895:0.5478:0.0:0.1626	.	36;58;58;36	Q13268;C9JZP6;D3DS54;Q13268-2	DHRS2_HUMAN;.;.;.	W	58	ENSP00000401213:R58W;ENSP00000250383:R58W;ENSP00000344674:R58W	ENSP00000250383:R58W	R	+	1	2	DHRS2	23178259	0.112000	0.22096	0.511000	0.27724	0.002000	0.02628	0.432000	0.21461	0.007000	0.14760	-0.350000	0.07774	CGG		0.642	DHRS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000071842.2	0	NM_182908		14:24108419
SIGLEC6	946	broad.mit.edu	37	19	52023419	52023419	+	Missense_Mutation	SNP	C	C	T	rs200754981		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:52023419C>T	ENST00000425629.3	-	8	1433	c.1279G>A	c.(1279-1281)Gct>Act	p.A427T	SIGLEC6_ENST00000343300.4_3'UTR|CTD-3073N11.9_ENST00000598220.1_RNA|SIGLEC6_ENST00000359982.4_3'UTR|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.A375T|SIGLEC6_ENST00000391797.3_3'UTR|SIGLEC6_ENST00000474054.1_5'UTR|SIGLEC6_ENST00000346477.3_Missense_Mutation_p.A411T	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	427					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TGTAGGACAGCGTAGTGGAGC	0.507																																						ENST00000346477.3		NA																	0				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28						c.(1231-1233)Gct>Act		sialic acid binding Ig-like lectin 6		C	THR/ALA,,,THR/ALA,THR/ALA,	0,4008		0,0,2004	212.0	204.0	207.0		1123,,,1279,1231,	2.6	0.0	19		207	5,8373		0,5,4184	yes	missense,utr-3,utr-3,missense,missense,utr-3	SIGLEC6	NM_001177547.1,NM_001177548.1,NM_001177549.1,NM_001245.5,NM_198845.4,NM_198846.4	58,,,58,58,	0,5,6188	TT,TC,CC		0.0597,0.0,0.0404	benign,,,benign,benign,	375/402,,,427/454,411/438,	52023419	5,12381	2004	4189	6193	SO:0001583	missense	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52023419C>T	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.1279G>A	19.37:g.52023419C>T	ENSP00000401502:p.Ala427Thr	False	False		Somatic	0				SIGLEC6_ENST00000359982.4_3'UTR|SIGLEC6_ENST00000391797.3_3'UTR|CTD-3073N11.9_ENST00000598220.1_RNA|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.A375T|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.A427T|SIGLEC6_ENST00000343300.4_3'UTR|SIGLEC6_ENST00000474054.1_5'UTR	p.A411T	NM_198845.4	NP_942142.3	WXS	Illumina HiSeq	Phase_I	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	7	1299	-		all_neural(266;0.0199)	427					A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	ENST00000425629.3	37	c.1231G>A	CCDS12834.3	.	.	.	.	.	.	.	.	.	.	.	12.92	2.081368	0.36758	0.0	5.97E-4	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000436458	T;T	0.09630	2.96;2.96	2.57	2.57	0.30868	.	.	.	.	.	T	0.33206	0.0855	M	0.84948	2.725	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.955;0.994;0.955	T	0.03212	-1.1060	9	0.87932	D	0	.	8.7521	0.34622	0.0:1.0:0.0:0.0	.	375;411;427	C9JBE5;O43699-3;O43699	.;.;SIGL6_HUMAN	T	400;411;427;375	ENSP00000401502:A427T;ENSP00000410679:A375T	ENSP00000344064:A400T	A	-	1	0	SIGLEC6	56715231	0.165000	0.22948	0.028000	0.17463	0.009000	0.06853	1.102000	0.31050	1.726000	0.51525	0.609000	0.83330	GCT		0.507	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	0	NM_001245		19:52023419
NPHS2	7827	broad.mit.edu	37	1	179530445	179530445	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:179530445G>T	ENST00000367615.4	-	3	498	c.430C>A	c.(430-432)Cct>Act	p.P144T	NPHS2_ENST00000367616.4_Missense_Mutation_p.P144T	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	144					actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249)	cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GCTCTTCCAGGAAGCAGATGT	0.373																																						ENST00000367615.4		NA																	0				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						c.(430-432)Cct>Act		nephrosis 2, idiopathic, steroid-resistant (podocin)							142.0	160.0	154.0					1																	179530445		2203	4300	6503	SO:0001583	missense	7827				excretion	integral to plasma membrane	protein binding	g.chr1:179530445G>T	AJ279254	CCDS1331.1, CCDS72988.1	1q25-q31	2014-06-27			ENSG00000116218	ENSG00000116218			13394	protein-coding gene	gene with protein product		604766				8589695, 10742096	Standard	XM_005245483		Approved	SRN1, PDCN	uc001gmq.4	Q9NP85	OTTHUMG00000035252	ENST00000367615.4:c.430C>A	1.37:g.179530445G>T	ENSP00000356587:p.Pro144Thr	False	False		Somatic	0				NPHS2_ENST00000367616.4_Missense_Mutation_p.P144T	p.P144T	NM_014625.2	NP_055440.1	WXS	Illumina HiSeq	Phase_I	Q9NP85	PODO_HUMAN			3	498	-			144					B1AM32|B1AM33|Q8N6Q5	Missense_Mutation	SNP	ENST00000367615.4	37	c.430C>A	CCDS1331.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.794586	0.50102	.	.	ENSG00000116218	ENST00000367615;ENST00000367616	D;D	0.99607	-6.27;-6.27	5.82	5.82	0.92795	.	0.210004	0.44097	D	0.000495	D	0.99140	0.9703	L	0.43923	1.385	0.38352	D	0.944353	D;D	0.59767	0.986;0.985	P;P	0.60886	0.88;0.844	D	0.98710	1.0704	10	0.54805	T	0.06	-18.3363	12.0534	0.53520	0.0787:0.0:0.9213:0.0	.	144;144	Q9NP85-2;Q9NP85	.;PODO_HUMAN	T	144	ENSP00000356587:P144T;ENSP00000356588:P144T	ENSP00000356587:P144T	P	-	1	0	NPHS2	177797068	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.032000	0.41127	2.765000	0.95021	0.650000	0.86243	CCT		0.373	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085283.1	0			1:179530445
OR2L2	26246	broad.mit.edu	37	1	248202362	248202362	+	Nonsense_Mutation	SNP	C	C	T	rs546778867		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:248202362C>T	ENST00000366479.2	+	1	889	c.793C>T	c.(793-795)Cga>Tga	p.R265*	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			AAGATCCCTGCGATCTCCAAC	0.498													c|||	1	0.000199681	0.0	0.0014	5008	,	,		19946	0.0		0.0	False		,,,				2504	0.0					ENST00000366479.2		NA																	0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42						c.(793-795)Cga>Tga		olfactory receptor, family 2, subfamily L, member 2							138.0	125.0	130.0					1																	248202362		2203	4300	6503	SO:0001587	stop_gained	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248202362C>T	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.793C>T	1.37:g.248202362C>T	ENSP00000355435:p.Arg265*	False	False		Somatic	0				OR2L13_ENST00000366478.2_Intron	p.R265*	NM_001004686.2	NP_001004686.1	WXS	Illumina HiSeq	Phase_I	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	889	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		265					Q2M3T5	Nonsense_Mutation	SNP	ENST00000366479.2	37	c.793C>T	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	16.24	3.067941	0.55539	.	.	ENSG00000203663	ENST00000366479	.	.	.	1.9	0.911	0.19343	.	0.000000	0.27636	U	0.018492	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	3.04	0.06135	0.243:0.5305:0.0:0.2264	.	.	.	.	X	265	.	ENSP00000355435:R265X	R	+	1	2	OR2L2	246268985	0.000000	0.05858	0.000000	0.03702	0.207000	0.24258	-2.234000	0.01203	0.005000	0.14708	0.194000	0.17425	CGA		0.498	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	0	NM_001004686		1:248202362
SH3TC2	79628	broad.mit.edu	37	5	148424197	148424197	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr5:148424197A>T	ENST00000515425.1	-	4	385	c.284T>A	c.(283-285)cTc>cAc	p.L95H	SH3TC2_ENST00000394358.2_5'UTR|SH3TC2_ENST00000512049.1_Missense_Mutation_p.L95H	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	95					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTGCTGAGAGGTCCTACGT	0.438																																						ENST00000515425.1		NA																	0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39						c.(283-285)cTc>cAc		SH3 domain and tetratricopeptide repeats 2							91.0	78.0	82.0					5																	148424197		2203	4300	6503	SO:0001583	missense	79628						binding	g.chr5:148424197A>T	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.284T>A	5.37:g.148424197A>T	ENSP00000423660:p.Leu95His	False	False		Somatic	0				SH3TC2_ENST00000394358.2_5'UTR|SH3TC2_ENST00000512049.1_Missense_Mutation_p.L95H	p.L95H	NM_024577.3	NP_078853.2	WXS	Illumina HiSeq	Phase_I	Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	385	-			95					B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	c.284T>A	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	A	17.32	3.360433	0.61403	.	.	ENSG00000169247	ENST00000515425;ENST00000512049	D;D	0.90069	-2.56;-2.61	5.92	5.92	0.95590	.	0.085133	0.46758	D	0.000280	D	0.93973	0.8070	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94506	0.7714	10	0.87932	D	0	.	14.5824	0.68300	1.0:0.0:0.0:0.0	.	95;95	Q14CC0;Q8TF17	.;S3TC2_HUMAN	H	95	ENSP00000423660:L95H;ENSP00000421860:L95H	ENSP00000313025:L95H	L	-	2	0	SH3TC2	148404390	1.000000	0.71417	1.000000	0.80357	0.210000	0.24377	7.355000	0.79434	2.255000	0.74692	0.533000	0.62120	CTC		0.438	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	0	NM_024577		5:148424197
GUCY2D	3000	broad.mit.edu	37	17	7917216	7917216	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr17:7917216G>A	ENST00000254854.4	+	12	2432	c.2282G>A	c.(2281-2283)cGg>cAg	p.R761Q		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	761	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				CAGAGGGTGCGGAGCCCCCCT	0.622																																						ENST00000254854.4		NA																	0				skin(1)	1						c.(2281-2283)cGg>cAg		guanylate cyclase 2D, membrane (retina-specific)							76.0	78.0	78.0					17																	7917216		2203	4300	6503	SO:0001583	missense	3000				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chr17:7917216G>A	L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"""cone rod dystrophy 6"""	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.2282G>A	17.37:g.7917216G>A	ENSP00000254854:p.Arg761Gln	False	False		Somatic	0					p.R761Q	NM_000180.3	NP_000171.1	WXS	Illumina HiSeq	Phase_I	Q02846	GUC2D_HUMAN			12	2432	+		Prostate(122;0.157)	761			Protein kinase.		Q6LEA7	Missense_Mutation	SNP	ENST00000254854.4	37	c.2282G>A	CCDS11127.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109704	0.37242	.	.	ENSG00000132518	ENST00000254854	D	0.82619	-1.63	5.44	-5.28	0.02755	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.898770	0.09283	N	0.823427	T	0.71745	0.3376	L	0.48642	1.525	0.09310	N	1	B	0.19583	0.037	B	0.13407	0.009	T	0.58405	-0.7642	10	0.45353	T	0.12	.	5.9913	0.19465	0.447:0.0:0.3698:0.1832	.	761	Q02846	GUC2D_HUMAN	Q	761	ENSP00000254854:R761Q	ENSP00000254854:R761Q	R	+	2	0	GUCY2D	7857941	0.000000	0.05858	0.462000	0.27118	0.976000	0.68499	-0.284000	0.08422	-0.603000	0.05767	-0.345000	0.07892	CGG		0.622	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2	0			17:7917216
PTPN13	5783	broad.mit.edu	37	4	87622708	87622708	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr4:87622708G>A	ENST00000411767.2	+	7	1012	c.949G>A	c.(949-951)Gag>Aag	p.E317K	PTPN13_ENST00000511467.1_Missense_Mutation_p.E317K|PTPN13_ENST00000427191.2_Missense_Mutation_p.E317K|PTPN13_ENST00000316707.6_Missense_Mutation_p.E317K|PTPN13_ENST00000436978.1_Missense_Mutation_p.E317K			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	317					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CTCTTCAGGAGAGACTGCCAC	0.458																																						ENST00000436978.1		NA																	0				NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(949-951)Gag>Aag		protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							81.0	78.0	79.0					4																	87622708		1958	4148	6106	SO:0001583	missense	0					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87622708G>A		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.949G>A	4.37:g.87622708G>A	ENSP00000407249:p.Glu317Lys	True	False		Somatic	0				PTPN13_ENST00000511467.1_Missense_Mutation_p.E317K|PTPN13_ENST00000316707.6_Missense_Mutation_p.E317K|PTPN13_ENST00000427191.2_Missense_Mutation_p.E317K|PTPN13_ENST00000411767.2_Missense_Mutation_p.E317K	p.E317K	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	WXS	Illumina HiSeq	Phase_I	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	7	1429	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	317					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.949G>A	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.612102	0.46631	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	6.02	5.17	0.71159	.	0.473238	0.18118	N	0.151133	T	0.36853	0.0982	L	0.57536	1.79	0.34254	D	0.679118	B;P;P;B	0.44627	0.037;0.675;0.839;0.259	B;B;B;B	0.36567	0.093;0.228;0.114;0.067	T	0.54450	-0.8292	10	0.38643	T	0.18	.	11.0908	0.48115	0.14:0.0:0.86:0.0	.	317;317;317;317	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	K	317;317;317;317;317;285	ENSP00000408368:E317K;ENSP00000394794:E317K;ENSP00000322675:E317K;ENSP00000407249:E317K;ENSP00000426626:E317K	ENSP00000322675:E317K	E	+	1	0	PTPN13	87841732	1.000000	0.71417	0.990000	0.47175	0.428000	0.31595	3.582000	0.53921	1.547000	0.49401	0.650000	0.86243	GAG		0.458	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1	0			4:87622708
ZNF585A	199704	broad.mit.edu	37	19	37644404	37644404	+	Missense_Mutation	SNP	C	C	T	rs533790578		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:37644404C>T	ENST00000356958.4	-	5	655	c.397G>A	c.(397-399)Gcc>Acc	p.A133T	ZNF585A_ENST00000392157.2_Missense_Mutation_p.A78T|ZNF585A_ENST00000292841.5_Missense_Mutation_p.A78T|ZNF585A_ENST00000355533.2_Missense_Mutation_p.A78T|ZNF585A_ENST00000588723.1_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	133					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCAAATTTGGCGCATTCATAA	0.383													C|||	1	0.000199681	0.0	0.0	5008	,	,		17776	0.0		0.0	False		,,,				2504	0.001					ENST00000356958.4		NA																	0				breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(397-399)Gcc>Acc		zinc finger protein 585A							160.0	160.0	160.0					19																	37644404		2203	4300	6503	SO:0001583	missense	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37644404C>T	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.397G>A	19.37:g.37644404C>T	ENSP00000349440:p.Ala133Thr	False	False		Somatic	0				ZNF585A_ENST00000292841.5_Missense_Mutation_p.A78T|ZNF585A_ENST00000355533.2_Missense_Mutation_p.A78T|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.A78T	p.A133T			WXS	Illumina HiSeq	Phase_I	Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	655	-			133					Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37	c.397G>A		.	.	.	.	.	.	.	.	.	.	C	9.121	1.009054	0.19199	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	T;T;T;T	0.35789	1.29;1.29;1.29;1.67	2.95	1.88	0.25563	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.224693	0.22663	U	0.057163	T	0.11067	0.0270	N	0.01742	-0.745	0.09310	N	1	B	0.26935	0.164	B	0.20577	0.03	T	0.23048	-1.0199	10	0.20046	T	0.44	.	5.5634	0.17157	0.2297:0.5464:0.2238:0.0	.	133	Q6P3V2	Z585A_HUMAN	T	133;78;78;78	ENSP00000349440:A133T;ENSP00000292841:A78T;ENSP00000375998:A78T;ENSP00000347724:A78T	ENSP00000292841:A78T	A	-	1	0	ZNF585A	42336244	0.000000	0.05858	0.004000	0.12327	0.002000	0.02628	-4.249000	0.00266	0.770000	0.33336	0.655000	0.94253	GCC		0.383	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	0	NM_152655		19:37644404
ZFAT	57623	broad.mit.edu	37	8	135614834	135614834	+	Silent	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr8:135614834C>T	ENST00000377838.3	-	6	1302	c.1128G>A	c.(1126-1128)gcG>gcA	p.A376A	ZFAT_ENST00000520727.1_Silent_p.A364A|ZFAT_ENST00000429442.2_Silent_p.A364A|ZFAT_ENST00000520214.1_Silent_p.A364A|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000520356.1_Silent_p.A364A|ZFAT_ENST00000523399.1_Silent_p.A314A	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	376					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GTGGGTCATGCGCGTCTCGGA	0.552																																						ENST00000520727.1		NA																	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1090-1092)gcG>gcA		zinc finger and AT hook domain containing							74.0	75.0	74.0					8																	135614834		2114	4240	6354	SO:0001819	synonymous_variant	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135614834C>T	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.1128G>A	8.37:g.135614834C>T		False	False		Somatic	0				ZFAT_ENST00000523399.1_Silent_p.A314A|ZFAT_ENST00000520214.1_Silent_p.A364A|ZFAT_ENST00000429442.2_Silent_p.A364A|ZFAT_ENST00000377838.3_Silent_p.A376A|ZFAT_ENST00000520356.1_Silent_p.A364A	p.A364A	NM_001029939.3	NP_001025110.2	WXS	Illumina HiSeq	Phase_I	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		7	1391	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		376					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Silent	SNP	ENST00000377838.3	37	c.1092G>A	CCDS47924.1																																																																																				0.552	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	0	NM_001029939		8:135614834
PLEKHA5	54477	broad.mit.edu	37	12	19501393	19501393	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:19501393G>T	ENST00000299275.6	+	19	2467	c.2461G>T	c.(2461-2463)Gaa>Taa	p.E821*	PLEKHA5_ENST00000538714.1_Nonsense_Mutation_p.E879*|PLEKHA5_ENST00000424268.1_Nonsense_Mutation_p.E810*|PLEKHA5_ENST00000359180.3_Intron|PLEKHA5_ENST00000539256.1_Nonsense_Mutation_p.E579*|PLEKHA5_ENST00000355397.3_Nonsense_Mutation_p.E879*|PLEKHA5_ENST00000317589.4_Nonsense_Mutation_p.E884*|PLEKHA5_ENST00000543806.1_Nonsense_Mutation_p.E803*|PLEKHA5_ENST00000429027.2_Nonsense_Mutation_p.E987*	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	821					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					AGAAGTTGATGAATCTAATGG	0.348																																					Pancreas(196;329 2193 11246 14234 19524)	ENST00000538714.1		NA																	0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2635-2637)Gaa>Taa		pleckstrin homology domain containing, family A member 5							97.0	98.0	97.0					12																	19501393		2203	4299	6502	SO:0001587	stop_gained	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19501393G>T	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.2461G>T	12.37:g.19501393G>T	ENSP00000299275:p.Glu821*	False	False		Somatic	0				PLEKHA5_ENST00000429027.2_Nonsense_Mutation_p.E987*|PLEKHA5_ENST00000539256.1_Nonsense_Mutation_p.E579*|PLEKHA5_ENST00000355397.3_Nonsense_Mutation_p.E879*|PLEKHA5_ENST00000359180.3_Intron|PLEKHA5_ENST00000543806.1_Nonsense_Mutation_p.E803*|PLEKHA5_ENST00000424268.1_Nonsense_Mutation_p.E810*|PLEKHA5_ENST00000299275.6_Nonsense_Mutation_p.E821*|PLEKHA5_ENST00000317589.4_Nonsense_Mutation_p.E884*	p.E879*	NM_001143821.2	NP_001137293.2	WXS	Illumina HiSeq	Phase_I	Q9HAU0	PKHA5_HUMAN			21	2639	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		821					A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Nonsense_Mutation	SNP	ENST00000299275.6	37	c.2635G>T	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	G	42	9.521210	0.99193	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000542828;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974	.	.	.	5.09	5.09	0.68999	.	0.284028	0.37136	N	0.002230	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-19.7244	18.8652	0.92289	0.0:0.0:1.0:0.0	.	.	.	.	X	884;879;983;987;821;579;879;810;803;776	.	ENSP00000299275:E821X	E	+	1	0	PLEKHA5	19392660	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.173000	0.89680	2.489000	0.83994	0.563000	0.77884	GAA		0.348	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	0	NM_019012		12:19501393
SCN5A	6331	broad.mit.edu	37	3	38662392	38662392	+	Missense_Mutation	SNP	C	C	T	rs192113333		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:38662392C>T	ENST00000333535.4	-	5	702	c.553G>A	c.(553-555)Gcg>Acg	p.A185T	SCN5A_ENST00000451551.2_Missense_Mutation_p.A185T|SCN5A_ENST00000413689.1_Missense_Mutation_p.A185T|SCN5A_ENST00000423572.2_Missense_Mutation_p.A185T|SCN5A_ENST00000414099.2_Missense_Mutation_p.A185T|SCN5A_ENST00000455624.2_Missense_Mutation_p.A185T|SCN5A_ENST00000449557.2_Missense_Mutation_p.A185T|SCN5A_ENST00000443581.1_Missense_Mutation_p.A185T|SCN5A_ENST00000450102.2_Missense_Mutation_p.A185T|SCN5A_ENST00000425664.1_Missense_Mutation_p.A185T			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	185					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	AAAGTGAACGCGTGCAGGCAG	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		21080	0.0		0.001	False		,,,				2504	0.0					ENST00000413689.1		NA																	0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	GRCh37	CM044054	SCN5A	M	rs192113333	c.(553-555)Gcg>Acg		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						54.0	61.0	59.0					3																	38662392		1985	4185	6170	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38662392C>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.553G>A	3.37:g.38662392C>T	ENSP00000328968:p.Ala185Thr	False	False		Somatic	0				SCN5A_ENST00000451551.2_Missense_Mutation_p.A185T|SCN5A_ENST00000449557.2_Missense_Mutation_p.A185T|SCN5A_ENST00000423572.2_Missense_Mutation_p.A185T|SCN5A_ENST00000443581.1_Missense_Mutation_p.A185T|SCN5A_ENST00000425664.1_Missense_Mutation_p.A185T|SCN5A_ENST00000450102.2_Missense_Mutation_p.A185T|SCN5A_ENST00000333535.4_Missense_Mutation_p.A185T|SCN5A_ENST00000455624.2_Missense_Mutation_p.A185T|SCN5A_ENST00000414099.2_Missense_Mutation_p.A185T	p.A185T	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	WXS	Illumina HiSeq	Phase_I	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	5	746	-	Medulloblastoma(35;0.163)		185					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.553G>A	CCDS46796.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	13.26	2.182805	0.38511	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.98585	-5.01;-5.01;-5.01;-5.01;-5.01;-5.01;-5.01;-5.01;-5.01;-5.01	4.13	4.13	0.48395	Ion transport (1);	0.272885	0.36893	N	0.002355	D	0.94568	0.8250	N	0.22421	0.69	0.09310	N	1	P;P;P;P;P;P	0.50710	0.898;0.936;0.898;0.873;0.938;0.846	B;B;B;B;B;B	0.40165	0.249;0.321;0.249;0.255;0.299;0.079	D	0.90051	0.4149	10	0.44086	T	0.13	.	12.7806	0.57474	0.0:0.835:0.165:0.0	.	185;185;185;185;185;185	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	T	185	ENSP00000398962:A185T;ENSP00000398266:A185T;ENSP00000410257:A185T;ENSP00000388797:A185T;ENSP00000397915:A185T;ENSP00000416634:A185T;ENSP00000328968:A185T;ENSP00000399524:A185T;ENSP00000403355:A185T;ENSP00000413996:A185T	ENSP00000328968:A185T	A	-	1	0	SCN5A	38637396	0.008000	0.16893	0.142000	0.22268	0.893000	0.52053	1.343000	0.33930	2.306000	0.77630	0.561000	0.74099	GCG		0.527	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	0	NM_198056		3:38662392
TTN	7273	broad.mit.edu	37	2	179455980	179455980	+	Missense_Mutation	SNP	C	C	T	rs375009570		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:179455980C>T	ENST00000591111.1	-	254	55773	c.55549G>A	c.(55549-55551)Ggt>Agt	p.G18517S	TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G11218S|TTN_ENST00000460472.2_Missense_Mutation_p.G11093S|TTN_ENST00000589042.1_Missense_Mutation_p.G20158S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G11285S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G17590S|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18517	Ig-like 106.				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)			GTTTTGCTACCGGCTGCATTG	0.418																																						ENST00000589042.1		NA																	0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(60472-60474)Ggt>Agt		titin							230.0	235.0	233.0					2																	179455980		1910	4131	6041	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179455980C>T	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.55549G>A	2.37:g.179455980C>T	ENSP00000465570:p.Gly18517Ser	False	False		Somatic	0				TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G11218S|TTN_ENST00000460472.2_Missense_Mutation_p.G11093S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G17590S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G11285S|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G18517S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA	p.G20158S	NM_001267550.1	NP_001254479.1	WXS	Illumina HiSeq	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		304	60696	-			18517			Fibronectin type-III 46.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.60472G>A		.	.	.	.	.	.	.	.	.	.	C	14.91	2.675466	0.47781	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83	6.11	6.11	0.99139	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.89729	0.6799	M	0.90369	3.11	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.90351	0.4366	9	0.87932	D	0	.	20.7342	0.99715	0.0:1.0:0.0:0.0	.	11093;11218;11285;18517	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	17590;11093;11285;11218;11091	ENSP00000343764:G17590S;ENSP00000434586:G11093S;ENSP00000340554:G11285S;ENSP00000352154:G11218S	ENSP00000340554:G11285S	G	-	1	0	TTN	179164226	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.818000	0.86416	2.906000	0.99361	0.655000	0.94253	GGT		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	NM_133378		2:179455980
CAPRIN2	65981	broad.mit.edu	37	12	30873750	30873750	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:30873750G>C	ENST00000298892.5	-	12	2893	c.2143C>G	c.(2143-2145)Cct>Gct	p.P715A	CAPRIN2_ENST00000308433.5_Missense_Mutation_p.P382A|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.P715A|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.P715A|CAPRIN2_ENST00000395805.2_Intron	NM_023925.3	NP_076414.2			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TTTACCTCAGGAGTCTCTGAG	0.373																																						ENST00000251071.5		NA																	0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48						c.(2143-2145)Cct>Gct		caprin family member 2							81.0	85.0	84.0					12																	30873750		2203	4300	6503	SO:0001583	missense	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30873750G>C	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000298892.5:c.2143C>G	12.37:g.30873750G>C	ENSP00000298892:p.Pro715Ala	False	False		Somatic	0				CAPRIN2_ENST00000298892.5_Missense_Mutation_p.P715A|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.P382A|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.P715A|CAPRIN2_ENST00000395805.2_Intron	p.P715A	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	WXS	Illumina HiSeq	Phase_I	Q6IMN6	CAPR2_HUMAN			12	2893	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		715						Missense_Mutation	SNP	ENST00000298892.5	37	c.2143C>G	CCDS8720.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.900537	0.52227	.	.	ENSG00000110888	ENST00000433722;ENST00000298892;ENST00000251071;ENST00000308433;ENST00000417045;ENST00000537108	T;T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05;2.05	5.45	3.56	0.40772	.	0.402823	0.26041	N	0.026690	T	0.18087	0.0434	L	0.46157	1.445	0.37841	D	0.92906	B;B;B;B	0.24721	0.11;0.012;0.015;0.026	B;B;B;B	0.22152	0.028;0.027;0.016;0.038	T	0.06427	-1.0827	10	0.09338	T	0.73	-5.5419	14.5087	0.67769	0.0:0.42:0.58:0.0	.	715;715;715;715	Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;CAPR2_HUMAN;.;.	A	461;715;715;382;715;634	ENSP00000415407:P461A;ENSP00000298892:P715A;ENSP00000251071:P715A;ENSP00000309785:P382A;ENSP00000391479:P715A;ENSP00000438010:P634A	ENSP00000251071:P715A	P	-	1	0	CAPRIN2	30765017	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.051000	0.30417	0.619000	0.30197	-0.282000	0.10007	CCT		0.373	CAPRIN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402778.1	0	NM_023925		12:30873750
ETS1	2113	broad.mit.edu	37	11	128391808	128391808	+	Splice_Site	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:128391808C>T	ENST00000319397.6	-	1	391	c.82G>A	c.(82-84)Gat>Aat	p.D28N	ETS1_ENST00000531611.1_Splice_Site_p.D28N|ETS1_ENST00000345075.4_Splice_Site_p.D28N|ETS1_ENST00000526145.2_Splice_Site_p.D28N|ETS1_ENST00000535549.1_Splice_Site_p.G28S|ETS1_ENST00000392668.4_Intron	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	28					angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		CGCCACTCACCCGGGGAGGGG	0.652																																						ENST00000345075.4		NA																	0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35						c.(82-84)Gat>Aat		v-ets avian erythroblastosis virus E26 oncogene homolog 1							39.0	44.0	42.0					11																	128391808		2201	4297	6498	SO:0001630	splice_region_variant	2113				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr11:128391808C>T		CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"""Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1"", ""ets protein"""	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000319397.6:c.82+1G>A	11.37:g.128391808C>T		True	False		Somatic	0				ETS1_ENST00000531611.1_Splice_Site_p.D28N|ETS1_ENST00000535549.1_Splice_Site_p.G28S|ETS1_ENST00000526145.2_Splice_Site_p.D28N|ETS1_ENST00000392668.4_Intron|ETS1_ENST00000319397.6_Splice_Site_p.D28N	p.D28N			WXS	Illumina HiSeq	Phase_I	P14921	ETS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)	1	397	-	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)	28					A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Splice_Site	SNP	ENST00000319397.6	37	c.82G>A	CCDS8475.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.090046|5.090046	0.94149|0.94149	.|.	.|.	ENSG00000134954|ENSG00000134954	ENST00000345075;ENST00000531611;ENST00000319397;ENST00000526145|ENST00000535549	T;T;T;T|T	0.51817|0.17691	2.93;0.69;2.59;2.93|2.26	4.72|4.72	4.72|4.72	0.59763|0.59763	.|.	.|.	.|.	.|.	.|.	T|T	0.20333|0.20333	0.0489|0.0489	M|M	0.64404|0.64404	1.975|1.975	0.58432|0.58432	D|D	0.999999|0.999999	P;P|B	0.52316|0.17038	0.743;0.952|0.02	B;P|B	0.49140|0.18871	0.097;0.601|0.023	T|T	0.02901|0.02901	-1.1096|-1.1096	8|8	.|.	.|.	.|.	.|.	14.9724|14.9724	0.71243|0.71243	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	28;28|28	P14921;Q96AC5|F5GYX9	ETS1_HUMAN;.|.	N|S	28|28	ENSP00000340485:D28N;ENSP00000435666:D28N;ENSP00000324578:D28N;ENSP00000433500:D28N|ENSP00000441430:G28S	.|.	D|G	-|-	1|1	0|0	ETS1|ETS1	127897018|127897018	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.060000|4.060000	0.57477|0.57477	2.325000|2.325000	0.78763|0.78763	0.591000|0.591000	0.81541|0.81541	GAT|GGT		0.652	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386269.2	0	NM_005238	Missense_Mutation	11:128391808
IGF2R	3482	broad.mit.edu	37	6	160501166	160501166	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr6:160501166G>A	ENST00000356956.1	+	39	5840	c.5692G>A	c.(5692-5694)Gat>Aat	p.D1898N		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1898	Fibronectin type-II. {ECO:0000255|PROSITE-ProRule:PRU00479}.				insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TCCAGAAACCGATGACGGCGT	0.532																																						ENST00000356956.1		NA																	0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(5692-5694)Gat>Aat		insulin-like growth factor 2 receptor							155.0	142.0	146.0					6																	160501166		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160501166G>A	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.5692G>A	6.37:g.160501166G>A	ENSP00000349437:p.Asp1898Asn	False	False		Somatic	0					p.D1898N	NM_000876.2	NP_000867	WXS	Illumina HiSeq	Phase_I	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	39	5840	+		Breast(66;0.000777)|Ovarian(120;0.0305)	1898			Fibronectin type-II.		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.5692G>A	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190890	0.38707	.	.	ENSG00000197081	ENST00000356956	T	0.42131	0.98	5.5	4.64	0.57946	Mannose-6-phosphate receptor, binding (1);Fibronectin, type II, collagen-binding (3);Kringle-like fold (1);	0.753844	0.13297	N	0.398503	T	0.21145	0.0509	L	0.54323	1.7	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.14671	-1.0464	10	0.31617	T	0.26	-21.8803	12.8987	0.58113	0.0752:0.0:0.9248:0.0	.	1898	P11717	MPRI_HUMAN	N	1898	ENSP00000349437:D1898N	ENSP00000349437:D1898N	D	+	1	0	IGF2R	160421156	0.963000	0.33076	0.009000	0.14445	0.005000	0.04900	4.116000	0.57871	1.459000	0.47892	0.655000	0.94253	GAT		0.532	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	0	NM_000876		6:160501166
CACNA1F	778	broad.mit.edu	37	X	49063557	49063557	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chrX:49063557G>C	ENST00000376265.2	-	44	5234	c.5173C>G	c.(5173-5175)Ctc>Gtc	p.L1725V	CACNA1F_ENST00000376251.1_Missense_Mutation_p.L1660V|CACNA1F_ENST00000323022.5_Missense_Mutation_p.L1714V	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1725					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GTGAAAATGAGAGCCCCAGAG	0.547																																						ENST00000376265.2		NA																	0				autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85						c.(5173-5175)Ctc>Gtc		calcium channel, voltage-dependent, L type, alpha 1F subunit	Verapamil(DB00661)						114.0	79.0	91.0					X																	49063557		2201	4296	6497	SO:0001583	missense	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49063557G>C	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.5173C>G	X.37:g.49063557G>C	ENSP00000365441:p.Leu1725Val	False	False		Somatic	0				CACNA1F_ENST00000376251.1_Missense_Mutation_p.L1660V|CACNA1F_ENST00000323022.5_Missense_Mutation_p.L1714V	p.L1725V	NM_005183.2	NP_005174.2	WXS	Illumina HiSeq	Phase_I	O60840	CAC1F_HUMAN			44	5234	-			1725					A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.5173C>G	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	G	2.789	-0.251861	0.05829	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.96265	-3.96;-3.88;-3.88	3.97	-0.788	0.10939	.	16.143700	0.00166	N	0.000000	D	0.89795	0.6818	N	0.08118	0	0.09310	N	1	B;B	0.21905	0.062;0.001	B;B	0.22152	0.038;0.001	D	0.83992	0.0338	10	0.15499	T	0.54	.	7.2841	0.26328	0.4927:0.0:0.5073:0.0	.	1714;1725	F5CIQ9;O60840	.;CAC1F_HUMAN	V	1660;1714;1725	ENSP00000365427:L1660V;ENSP00000321618:L1714V;ENSP00000365441:L1725V	ENSP00000321618:L1714V	L	-	1	0	CACNA1F	48950501	0.029000	0.19370	0.052000	0.19188	0.992000	0.81027	-0.100000	0.10990	-0.292000	0.08999	0.529000	0.55759	CTC		0.547	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	0	NM_005183		X:49063557
CEACAM4	1089	broad.mit.edu	37	19	42132119	42132119	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:42132119C>T	ENST00000221954.2	-	2	390	c.280G>A	c.(280-282)Gca>Aca	p.A94T	CEACAM4_ENST00000600925.1_Missense_Mutation_p.A94T	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	94	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.A94T(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CCACTGTATGCGGCCCCTGGG	0.488																																						ENST00000221954.2		NA																	1	Substitution - Missense(1)	p.A94T(1)	lung(1)	NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						c.(280-282)Gca>Aca		carcinoembryonic antigen-related cell adhesion molecule 4							166.0	157.0	160.0					19																	42132119		2203	4300	6503	SO:0001583	missense	1089					integral to plasma membrane|membrane fraction		g.chr19:42132119C>T	D90276	CCDS33033.1	19q13.2	2013-01-11			ENSG00000105352	ENSG00000105352		"""Immunoglobulin superfamily / V-set domain containing"""	1816	protein-coding gene	gene with protein product				CGM7		2050678	Standard	XM_005258434		Approved		uc002orh.1	O75871	OTTHUMG00000151065	ENST00000221954.2:c.280G>A	19.37:g.42132119C>T	ENSP00000221954:p.Ala94Thr	False	False		Somatic	0				CEACAM4_ENST00000600925.1_Missense_Mutation_p.A94T	p.A94T	NM_001817.2	NP_001808.2	WXS	Illumina HiSeq	Phase_I	O75871	CEAM4_HUMAN			2	390	-			94			Ig-like V-type.		Q03715|Q7LDZ7	Missense_Mutation	SNP	ENST00000221954.2	37	c.280G>A	CCDS33033.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639939	0.47153	.	.	ENSG00000105352	ENST00000221954	T	0.66280	-0.2	1.76	1.76	0.24704	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76278	0.3965	M	0.84219	2.685	0.09310	N	1	D;D	0.89917	0.997;1.0	D;D	0.73380	0.921;0.98	T	0.61207	-0.7109	9	0.66056	D	0.02	.	6.9535	0.24558	0.0:1.0:0.0:0.0	.	94;94	E7EMX3;O75871	.;CEAM4_HUMAN	T	94	ENSP00000221954:A94T	ENSP00000221954:A94T	A	-	1	0	CEACAM4	46823959	0.000000	0.05858	0.009000	0.14445	0.015000	0.08874	0.618000	0.24373	1.281000	0.44480	0.205000	0.17691	GCA		0.488	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321148.1	0	NM_001817		19:42132119
SP140	11262	broad.mit.edu	37	2	231120208	231120208	+	Missense_Mutation	SNP	C	C	T	rs201685101		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:231120208C>T	ENST00000392045.3	+	12	1315	c.1201C>T	c.(1201-1203)Cgc>Tgc	p.R401C	SP140_ENST00000486687.2_Missense_Mutation_p.R325C|SP140_ENST00000343805.6_Missense_Mutation_p.R341C|SP140_ENST00000420434.3_Intron|SP140_ENST00000417495.3_Missense_Mutation_p.R287C|SP140_ENST00000350136.5_Missense_Mutation_p.R270C	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	401					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGGAGAAGAGCGCCAGGAAGC	0.527																																						ENST00000392045.3		NA																	0				NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						c.(1201-1203)Cgc>Tgc		SP140 nuclear body protein							100.0	94.0	96.0					2																	231120208		1909	4105	6014	SO:0001583	missense	11262				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:231120208C>T	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.1201C>T	2.37:g.231120208C>T	ENSP00000375899:p.Arg401Cys	False	False		Somatic	0				SP140_ENST00000350136.5_Missense_Mutation_p.R270C|SP140_ENST00000343805.6_Missense_Mutation_p.R341C|SP140_ENST00000417495.3_Missense_Mutation_p.R287C|SP140_ENST00000486687.2_Missense_Mutation_p.R325C|SP140_ENST00000420434.3_Intron	p.R401C	NM_007237.4	NP_009168.4	WXS	Illumina HiSeq	Phase_I	Q13342	LY10_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	12	1315	+		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	401					E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	c.1201C>T	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	c	9.688	1.151170	0.21371	.	.	ENSG00000079263	ENST00000486687;ENST00000392044;ENST00000350136;ENST00000392045;ENST00000343805	T;T;T;T	0.60040	0.56;0.86;0.62;0.22	2.9	-1.08	0.09936	.	.	.	.	.	T	0.30198	0.0757	N	0.14661	0.345	0.09310	N	1	P;D;P	0.56968	0.688;0.978;0.561	B;B;B	0.37422	0.188;0.249;0.063	T	0.24190	-1.0167	9	0.66056	D	0.02	3.0597	3.4175	0.07381	0.0:0.4239:0.2039:0.3723	.	341;401;367	E9PFJ6;Q13342;E7EX75	.;LY10_HUMAN;.	C	325;367;270;401;341	ENSP00000440107:R325C;ENSP00000345846:R270C;ENSP00000375899:R401C;ENSP00000342096:R341C	ENSP00000342096:R341C	R	+	1	0	SP140	230828452	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.367000	0.20382	-0.283000	0.09115	-0.283000	0.09986	CGC		0.527	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	0	NM_007237		2:231120208
CDC25A	993	broad.mit.edu	37	3	48219349	48219349	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:48219349G>T	ENST00000302506.3	-	7	1087	c.679C>A	c.(679-681)Ctg>Atg	p.L227M	CDC25A_ENST00000351231.3_Missense_Mutation_p.L187M|RNU7-128P_ENST00000517247.1_RNA	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	227					cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to radiation (GO:0009314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GGTACCTTCAGATTCTCTCCA	0.448																																						ENST00000302506.3		NA																	0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20						c.(679-681)Ctg>Atg		cell division cycle 25A							184.0	178.0	180.0					3																	48219349		2203	4300	6503	SO:0001583	missense	993				cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr3:48219349G>T	M81933	CCDS2760.1, CCDS2761.1	3p21	2013-01-17	2013-01-17		ENSG00000164045	ENSG00000164045		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1725	protein-coding gene	gene with protein product		116947	"""cell division cycle 25A"", ""cell division cycle 25 homolog A (S. cerevisiae)"", ""cell division cycle 25 homolog A (S. pombe)"""			1836978	Standard	NM_001789		Approved		uc003csh.1	P30304	OTTHUMG00000133535	ENST00000302506.3:c.679C>A	3.37:g.48219349G>T	ENSP00000303706:p.Leu227Met	False	False		Somatic	0				CDC25A_ENST00000351231.3_Missense_Mutation_p.L187M	p.L227M	NM_001789.2	NP_001780.2	WXS	Illumina HiSeq	Phase_I	P30304	MPIP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	7	1087	-			227					Q8IZH5|Q96IL3|Q9H2F2	Missense_Mutation	SNP	ENST00000302506.3	37	c.679C>A	CCDS2760.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834951	0.32421	.	.	ENSG00000164045	ENST00000302506;ENST00000351231;ENST00000443342	T;T;T	0.36520	1.25;1.25;1.25	5.86	-1.61	0.08399	.	0.298652	0.32068	N	0.006637	T	0.25195	0.0612	L	0.40543	1.245	0.31540	N	0.660029	B;B	0.22746	0.074;0.053	B;B	0.36534	0.145;0.227	T	0.17228	-1.0376	10	0.37606	T	0.19	.	0.6643	0.00848	0.2883:0.1209:0.3425:0.2483	.	187;227	P30304-2;P30304	.;MPIP1_HUMAN	M	227;187;226	ENSP00000303706:L227M;ENSP00000343166:L187M;ENSP00000416483:L226M	ENSP00000303706:L227M	L	-	1	2	CDC25A	48194353	0.984000	0.35163	0.843000	0.33291	0.723000	0.41478	0.184000	0.16939	-0.685000	0.05177	-0.291000	0.09656	CTG		0.448	CDC25A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257512.2	0	NM_001789		3:48219349
TYROBP	7305	broad.mit.edu	37	19	36399086	36399086	+	Silent	SNP	G	G	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:36399086G>T	ENST00000262629.4	-	1	111	c.45C>A	c.(43-45)ctC>ctA	p.L15L	TYROBP_ENST00000424586.3_Silent_p.L15L|TYROBP_ENST00000544690.2_Silent_p.L15L|TYROBP_ENST00000585901.2_Silent_p.L15L|TYROBP_ENST00000589517.1_Silent_p.L15L	NM_003332.3|NM_198125.2	NP_003323.1|NP_937758.1	O43914	TYOBP_HUMAN	TYRO protein tyrosine kinase binding protein	15					axon guidance (GO:0007411)|cellular defense response (GO:0006968)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|regulation of immune response (GO:0050776)|regulation of osteoclast development (GO:2001204)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|receptor binding (GO:0005102)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(4)|skin(1)	8	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGCCAGCAGGAGAGGCAGGA	0.657																																						ENST00000585901.2		NA																	0				NS(1)|central_nervous_system(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(43-45)ctC>ctA		TYRO protein tyrosine kinase binding protein							39.0	38.0	39.0					19																	36399086		2203	4300	6503	SO:0001819	synonymous_variant	7305				axon guidance|cell junction assembly|cellular defense response|intracellular signal transduction|regulation of immune response	integral to plasma membrane|intracellular	identical protein binding|receptor signaling protein activity	g.chr19:36399086G>T	AF019563	CCDS12482.1, CCDS46058.1, CCDS54255.1, CCDS59378.1	19q13.1	2014-09-17				ENSG00000011600			12449	protein-coding gene	gene with protein product	"""killer activating receptor associated protein"", ""DNAX-activation protein 12"""	604142		PLOSL		9490415, 10888890	Standard	NM_003332		Approved	DAP12, PLO-SL, KARAP	uc002ocm.3	O43914		ENST00000262629.4:c.45C>A	19.37:g.36399086G>T		False	False		Somatic	0				TYROBP_ENST00000589517.1_Silent_p.L15L|TYROBP_ENST00000424586.3_Silent_p.L15L|TYROBP_ENST00000262629.4_Silent_p.L15L|TYROBP_ENST00000544690.2_Silent_p.L15L	p.L15L			WXS	Illumina HiSeq	Phase_I	O43914	TYOBP_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		1	63	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		15					A8K2X0|F5H389|Q6FGA5|Q9UMT3	Silent	SNP	ENST00000262629.4	37	c.45C>A	CCDS12482.1																																																																																				0.657	TYROBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457397.1	0			19:36399086
MN1	4330	broad.mit.edu	37	22	28194939	28194939	+	Silent	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr22:28194939C>T	ENST00000302326.4	-	1	2547	c.1593G>A	c.(1591-1593)caG>caA	p.Q531Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	531	Poly-Gln.				intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						gctgttgctgctgctgctgct	0.652			T	ETV6	"""AML, meningioma"""																																	ENST00000302326.4		NA		Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		"""AML, meningioma"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(1591-1593)caG>caA		meningioma (disrupted in balanced translocation) 1							4.0	6.0	5.0					22																	28194939		1796	3654	5450	SO:0001819	synonymous_variant	4330						binding	g.chr22:28194939C>T	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1593G>A	22.37:g.28194939C>T		True	False		Somatic	0					p.Q531Q	NM_002430.2	NP_002421.3	WXS	Illumina HiSeq	Phase_I	Q10571	MN1_HUMAN			1	2547	-			531			Poly-Gln.		A9Z1V9	Silent	SNP	ENST00000302326.4	37	c.1593G>A	CCDS42998.1																																																																																				0.652	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	0	NM_002430		22:28194939
YLPM1	56252	broad.mit.edu	37	14	75248343	75248343	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr14:75248343A>G	ENST00000552421.1	+	4	1721	c.1597A>G	c.(1597-1599)Atg>Gtg	p.M533V	YLPM1_ENST00000238571.3_Intron|YLPM1_ENST00000325680.7_Missense_Mutation_p.M533V			P49750	YLPM1_HUMAN	YLP motif containing 1	0					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TCTACCTACAATGCCCCCTCC	0.527																																						ENST00000325680.7		NA																	0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(1597-1599)Atg>Gtg		YLP motif containing 1							209.0	217.0	214.0					14																	75248343		2100	4203	6303	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75248343A>G	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.1597A>G	14.37:g.75248343A>G	ENSP00000447921:p.Met533Val	False	False		Somatic	0				YLPM1_ENST00000238571.3_Intron|YLPM1_ENST00000552421.1_Missense_Mutation_p.M533V	p.M533V	NM_019589.2	NP_062535.2	WXS	Illumina HiSeq	Phase_I	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	4	1721	+			340					P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	37	c.1597A>G		.	.	.	.	.	.	.	.	.	.	A	11.07	1.531914	0.27387	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000423680	.	.	.	5.84	4.67	0.58626	.	.	.	.	.	T	0.39572	0.1083	N	0.24115	0.695	0.80722	D	1	B	0.15930	0.015	B	0.14023	0.01	T	0.14282	-1.0478	8	0.12430	T	0.62	.	10.5131	0.44874	0.8549:0.0:0.0:0.1451	.	533	P49750-4	.	V	533;533;246	.	ENSP00000324463:M533V	M	+	1	0	YLPM1	74318096	0.874000	0.30092	1.000000	0.80357	0.994000	0.84299	1.654000	0.37334	1.006000	0.39211	0.482000	0.46254	ATG		0.527	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	0	NM_019589		14:75248343
TMEM198	130612	broad.mit.edu	37	2	220409474	220409474	+	Missense_Mutation	SNP	C	C	T	rs201245165		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:220409474C>T	ENST00000344458.2	+	3	610	c.25C>T	c.(25-27)Cgg>Tgg	p.R9W	CHPF_ENST00000243776.6_5'Flank|CHPF_ENST00000373891.2_5'Flank|TMEM198_ENST00000373883.3_Missense_Mutation_p.R9W|RP11-256I23.1_ENST00000596829.1_RNA|CHPF_ENST00000535926.1_5'Flank			Q66K66	TM198_HUMAN	transmembrane protein 198	9					multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGCAACACTGCGGTTCCAGCT	0.617													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18477	0.0		0.0	False		,,,				2504	0.0					ENST00000344458.2		NA																	0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(25-27)Cgg>Tgg		transmembrane protein 198							97.0	89.0	92.0					2																	220409474		2203	4300	6503	SO:0001583	missense	130612					integral to membrane		g.chr2:220409474C>T	BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.25C>T	2.37:g.220409474C>T	ENSP00000343507:p.Arg9Trp	False	False		Somatic	0				TMEM198_ENST00000373883.3_Missense_Mutation_p.R9W	p.R9W			WXS	Illumina HiSeq	Phase_I	Q66K66	TM198_HUMAN		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	3	610	+		Renal(207;0.0376)	9						Missense_Mutation	SNP	ENST00000344458.2	37	c.25C>T	CCDS33385.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	19.17	3.776201	0.70107	.	.	ENSG00000188760	ENST00000344458;ENST00000421791;ENST00000373883	.	.	.	3.94	3.94	0.45596	.	0.562550	0.17727	N	0.164020	T	0.39911	0.1096	N	0.08118	0	0.39157	D	0.962335	B	0.12013	0.005	B	0.01281	0.0	T	0.42899	-0.9424	9	0.66056	D	0.02	-9.0173	16.1416	0.81528	0.0:1.0:0.0:0.0	.	9	Q66K66	TM198_HUMAN	W	9	.	ENSP00000343507:R9W	R	+	1	2	TMEM198	220117718	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	2.182000	0.42556	2.226000	0.72624	0.555000	0.69702	CGG		0.617	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	0	NM_001005209		2:220409474
PLEKHA4	57664	broad.mit.edu	37	19	49362745	49362745	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:49362745G>A	ENST00000263265.6	-	7	1228	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W	PLEKHA4_ENST00000596713.1_5'UTR|PLEKHA4_ENST00000355496.5_Missense_Mutation_p.R225W	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	225	Pro-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CTCGCCCTCCGCATCTGGAGT	0.637																																						ENST00000263265.6		NA																	0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30						c.(673-675)Cgg>Tgg		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4							45.0	39.0	41.0					19																	49362745		2203	4300	6503	SO:0001583	missense	0					cytoplasm|membrane	1-phosphatidylinositol binding	g.chr19:49362745G>A	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.673C>T	19.37:g.49362745G>A	ENSP00000263265:p.Arg225Trp	False	False		Somatic	0				PLEKHA4_ENST00000596713.1_5'UTR|PLEKHA4_ENST00000355496.5_Missense_Mutation_p.R225W	p.R225W	NM_020904.2	NP_065955.2	WXS	Illumina HiSeq	Phase_I	Q9H4M7	PKHA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	7	1228	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)	225			Pro-rich.		Q8N4M8|Q8N658	Missense_Mutation	SNP	ENST00000263265.6	37	c.673C>T	CCDS12737.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.179782	0.38511	.	.	ENSG00000105559	ENST00000263265;ENST00000355496	T;T	0.15834	2.99;2.39	4.7	2.52	0.30459	.	0.654908	0.13453	N	0.386789	T	0.15435	0.0372	L	0.27053	0.805	0.09310	N	1	D;D	0.71674	0.987;0.998	P;P	0.50896	0.653;0.65	T	0.10132	-1.0643	10	0.41790	T	0.15	.	5.648	0.17600	0.1:0.0:0.7059:0.1941	.	225;225	Q9H4M7-2;Q9H4M7	.;PKHA4_HUMAN	W	225	ENSP00000263265:R225W;ENSP00000347683:R225W	ENSP00000263265:R225W	R	-	1	2	PLEKHA4	54054557	0.004000	0.15560	0.354000	0.25760	0.004000	0.04260	0.418000	0.21230	0.691000	0.31592	0.462000	0.41574	CGG		0.637	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1	0			19:49362745
AJAP1	55966	broad.mit.edu	37	1	4772146	4772146	+	Silent	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:4772146G>A	ENST00000378191.4	+	2	597	c.216G>A	c.(214-216)gcG>gcA	p.A72A	AJAP1_ENST00000378190.3_Silent_p.A72A|AJAP1_ENST00000466761.1_3'UTR	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	72					cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A72A(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		GACAGCCAGCGCGGGTCCCGG	0.771																																						ENST00000378191.4		NA																	1	Substitution - coding silent(1)	p.A72A(1)	urinary_tract(1)	endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.(214-216)gcG>gcA		adherens junctions associated protein 1							9.0	13.0	12.0					1																	4772146		1651	3572	5223	SO:0001819	synonymous_variant	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4772146G>A	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.216G>A	1.37:g.4772146G>A		True	False		Somatic	0				AJAP1_ENST00000378190.3_Silent_p.A72A|AJAP1_ENST00000466761.1_3'UTR	p.A72A	NM_018836.3	NP_061324.1	WXS	Illumina HiSeq	Phase_I	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	2	597	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	72					Q9Y229	Silent	SNP	ENST00000378191.4	37	c.216G>A	CCDS54.1																																																																																				0.771	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	0	NM_018836		1:4772146
FGFR1	2260	broad.mit.edu	37	8	38275843	38275843	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr8:38275843G>A	ENST00000447712.2	-	10	2274	c.1333C>T	c.(1333-1335)Cgg>Tgg	p.R445W	FGFR1_ENST00000335922.5_Missense_Mutation_p.R435W|FGFR1_ENST00000356207.5_Missense_Mutation_p.R356W|FGFR1_ENST00000397103.1_Missense_Mutation_p.R356W|FGFR1_ENST00000326324.6_Missense_Mutation_p.R354W|FGFR1_ENST00000341462.5_Missense_Mutation_p.R445W|FGFR1_ENST00000397091.5_Missense_Mutation_p.R443W|FGFR1_ENST00000397113.2_Missense_Mutation_p.R443W|FGFR1_ENST00000425967.3_Missense_Mutation_p.R476W|FGFR1_ENST00000532791.1_Missense_Mutation_p.R443W|FGFR1_ENST00000397108.4_Missense_Mutation_p.R443W	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	445					angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.R445W(3)|p.R435W(1)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CGTGATGGCCGAACCAGAAGA	0.607		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""																														Melanoma(146;1153 1840 21453 21841 43625)	ENST00000447712.2		1		Dom	yes		8	8p11.2-p11.1	2260	T	fibroblast growth factor receptor 1	yes	"""Pfeiffer syndrome, Kallman syndrome"""	L	"""BCR, FOP, ZNF198, CEP1"""		"""MPD, NHL"""	FGFR1/ZNF703(2)	4	Substitution - Missense(4)	p.R445W(3)|p.R435W(1)	lung(4)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50						c.(1333-1335)Cgg>Tgg		fibroblast growth factor receptor 1	Palifermin(DB00039)						44.0	51.0	48.0					8																	38275843		2129	4236	6365	SO:0001583	missense	2260				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	g.chr8:38275843G>A	M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.1333C>T	8.37:g.38275843G>A	ENSP00000400162:p.Arg445Trp	False	False		Somatic	0				FGFR1_ENST00000425967.3_Missense_Mutation_p.R476W|FGFR1_ENST00000326324.6_Missense_Mutation_p.R354W|FGFR1_ENST00000356207.5_Missense_Mutation_p.R356W|FGFR1_ENST00000341462.5_Missense_Mutation_p.R445W|FGFR1_ENST00000397091.5_Missense_Mutation_p.R443W|FGFR1_ENST00000397113.2_Missense_Mutation_p.R443W|FGFR1_ENST00000397103.1_Missense_Mutation_p.R356W|FGFR1_ENST00000397108.4_Missense_Mutation_p.R443W|FGFR1_ENST00000335922.5_Missense_Mutation_p.R435W|FGFR1_ENST00000532791.1_Missense_Mutation_p.R443W	p.R445W	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	WXS	Illumina HiSeq	Phase_I	P11362	FGFR1_HUMAN	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		10	2274	-	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	445					A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Missense_Mutation	SNP	ENST00000447712.2	37	c.1333C>T	CCDS6107.2	.	.	.	.	.	.	.	.	.	.	G	19.77	3.888857	0.72524	.	.	ENSG00000077782	ENST00000397091;ENST00000425967;ENST00000447712;ENST00000341462;ENST00000310729;ENST00000532791;ENST00000397113;ENST00000356207;ENST00000335922;ENST00000326324;ENST00000397103;ENST00000397108	D;D;D;D;D;D;D;D;D;D;D	0.89875	-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.95217	0.8449	M	0.89534	3.04	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.999;1.0;1.0	D	0.95698	0.8746	10	0.87932	D	0	.	14.3551	0.66733	0.0:0.0:0.8519:0.1481	.	354;354;445;435;443	P11362-14;P11362-4;P11362;P11362-20;P11362-2	.;.;FGFR1_HUMAN;.;.	W	443;476;445;445;445;443;443;356;435;354;356;443	ENSP00000380280:R443W;ENSP00000393312:R476W;ENSP00000400162:R445W;ENSP00000340636:R445W;ENSP00000432972:R443W;ENSP00000380302:R443W;ENSP00000348537:R356W;ENSP00000337247:R435W;ENSP00000327229:R354W;ENSP00000380292:R356W;ENSP00000380297:R443W	ENSP00000311337:R445W	R	-	1	2	FGFR1	38395000	0.957000	0.32711	0.989000	0.46669	0.475000	0.33008	1.615000	0.36922	2.678000	0.91216	0.655000	0.94253	CGG		0.607	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		0			8:38275843
REG1P	5969	broad.mit.edu	37	2	79365058	79365058	+	RNA	SNP	G	G	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:79365058G>T	ENST00000444841.1	-	0	166									regenerating islet-derived 1 pseudogene																		CAGGGCTGGGGTTGTGGGAGG	0.483																																						ENST00000444841.1		NA																	0					NA																																														0							g.chr2:79365058G>T			2p12	2008-06-04	2008-06-04	2008-06-04	ENSG00000204787	ENSG00000204787			9953	pseudogene	pseudogene			"""rat regenerating islet-derived-like, human homolog (pancreatic stone protein-like, pancreatic thread protein-like)"", ""regenerating islet-derived-like, pancreatic stone protein-like, pancreatic thread protein-like (rat)"""	REGL		8333731	Standard	NR_002714		Approved	RS	uc002soc.1		OTTHUMG00000152978		2.37:g.79365058G>T		True	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	166	-			NA						RNA	SNP	ENST00000444841.1	37																																																																																						0.483	REG1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000328851.1	0	NR_002714		2:79365058
NBPF20	100288142	broad.mit.edu	37	1	148346684	148346684	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:148346684G>A	ENST00000369202.1	-	2	270	c.73C>T	c.(73-75)Cgc>Tgc	p.R25C	NBPF20_ENST00000414710.2_Missense_Mutation_p.R25C			Q3BBV1	NBPFK_HUMAN	neuroblastoma breakpoint family, member 20	25						cytoplasm (GO:0005737)		p.R25C(1)		breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						AACTGGGGGCGCAATTTCTCG	0.507																																						ENST00000369202.1		NA																	1	Substitution - Missense(1)	p.R25C(1)	lung(1)	breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						c.(73-75)Cgc>Tgc		neuroblastoma breakpoint family, member 20							49.0	57.0	54.0					1																	148346684		2125	4271	6396	SO:0001583	missense	100288142							g.chr1:148346684G>A		CCDS72856.1	1q21.2	2014-01-16			ENSG00000203832			"""neuroblastoma breakpoint family"""	32000	protein-coding gene	gene with protein product		614007				16079250	Standard	NM_001278267		Approved			Q3BBV1	OTTHUMG00000042439	ENST00000369202.1:c.73C>T	1.37:g.148346684G>A	ENSP00000358203:p.Arg25Cys	False	False		Somatic	0				NBPF20_ENST00000414710.2_Missense_Mutation_p.R25C	p.R25C			WXS	Illumina HiSeq	Phase_I					2	270	-			NA						Missense_Mutation	SNP	ENST00000369202.1	37	c.73C>T		.	.	.	.	.	.	.	.	.	.	.	5.006	0.186830	0.09547	.	.	ENSG00000203832	ENST00000369202;ENST00000369188;ENST00000414710	T;T;T	0.04917	3.85;3.91;3.53	0.521	0.521	0.17046	.	.	.	.	.	T	0.05044	0.0135	.	.	.	0.23751	N	0.996944	D;B	0.56521	0.976;0.024	P;B	0.52066	0.689;0.012	T	0.34925	-0.9809	6	0.48119	T	0.1	.	.	.	.	.	25;25	Q6P3W6;F5H1Q5	NBPFA_HUMAN;.	C	25	ENSP00000358203:R25C;ENSP00000358189:R25C;ENSP00000389520:R25C	ENSP00000358189:R25C	R	-	1	0	NBPF20	146713308	0.005000	0.15991	0.001000	0.08648	0.003000	0.03518	1.201000	0.32259	0.529000	0.28599	0.184000	0.17185	CGC		0.507	NBPF20-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000100689.2	0			1:148346684
ARHGEF4	50649	broad.mit.edu	37	2	131797606	131797606	+	Silent	SNP	C	C	T	rs551214782		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:131797606C>T	ENST00000326016.5	+	7	1284	c.765C>T	c.(763-765)gaC>gaT	p.D255D	ARHGEF4_ENST00000355771.3_Silent_p.D184D|ARHGEF4_ENST00000409303.1_Silent_p.D255D|ARHGEF4_ENST00000439368.2_3'UTR|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000525839.1_Silent_p.D255D|ARHGEF4_ENST00000392953.3_Silent_p.D255D	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	255					apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		TGAATCAGGACGAGCCCGCGG	0.731																																						ENST00000392953.3		NA																	0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29						c.(763-765)gaC>gaT		Rho guanine nucleotide exchange factor (GEF) 4							26.0	28.0	28.0					2																	131797606		2166	4258	6424	SO:0001819	synonymous_variant	50649				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity	g.chr2:131797606C>T	AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	684	protein-coding gene	gene with protein product	"""APC-stimulated guanine nucleotide exchange factor"""	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.765C>T	2.37:g.131797606C>T		False	False		Somatic	0				ARHGEF4_ENST00000439368.2_3'UTR|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000355771.3_Silent_p.D184D|ARHGEF4_ENST00000326016.5_Silent_p.D255D|ARHGEF4_ENST00000409303.1_Silent_p.D255D|ARHGEF4_ENST00000525839.1_Silent_p.D255D	p.D255D	NM_032995.1	NP_127462.1	WXS	Illumina HiSeq	Phase_I	Q9NR80	ARHG4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.097)	7	1284	+		Prostate(154;0.055)	255					Q9HDC6|Q9UPP0	Silent	SNP	ENST00000326016.5	37	c.765C>T	CCDS2165.1																																																																																				0.731	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4	0			2:131797606
PDZRN4	29951	broad.mit.edu	37	12	41966931	41966931	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:41966931G>A	ENST00000402685.2	+	10	2358	c.2350G>A	c.(2350-2352)Gga>Aga	p.G784R	PDZRN4_ENST00000298919.7_Missense_Mutation_p.G524R|PDZRN4_ENST00000539469.2_Missense_Mutation_p.G526R	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	784			G -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.				ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G526R(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GTCCTCTTCCGGACAGAGCAG	0.512																																						ENST00000298919.7		NA																	1	Substitution - Missense(1)	p.G526R(1)	large_intestine(1)	breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(1570-1572)Gga>Aga		PDZ domain containing ring finger 4							109.0	109.0	109.0					12																	41966931		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41966931G>A	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2350G>A	12.37:g.41966931G>A	ENSP00000384197:p.Gly784Arg	False	False		Somatic	0				PDZRN4_ENST00000402685.2_Missense_Mutation_p.G784R|PDZRN4_ENST00000539469.2_Missense_Mutation_p.G526R	p.G524R			WXS	Illumina HiSeq	Phase_I	Q6ZMN7	PZRN4_HUMAN			10	1958	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	784					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.1570G>A	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	0.033	-1.323271	0.01309	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.43294	0.95;0.95;0.95	5.02	3.16	0.36331	.	1.516350	0.03598	N	0.232999	T	0.29524	0.0736	N	0.16656	0.425	0.29554	N	0.851159	B;B;B	0.13145	0.006;0.007;0.003	B;B;B	0.08055	0.002;0.003;0.003	T	0.23190	-1.0195	10	0.17832	T	0.49	-16.4014	9.327	0.37999	0.2387:0.0:0.7613:0.0	.	784;524;526	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	R	784;526;524	ENSP00000384197:G784R;ENSP00000439990:G526R;ENSP00000298919:G524R	ENSP00000298919:G524R	G	+	1	0	PDZRN4	40253198	0.921000	0.31238	0.178000	0.23040	0.064000	0.16182	1.339000	0.33885	0.763000	0.33175	0.650000	0.86243	GGA		0.512	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	0	NM_013377		12:41966931
ZNF845	91664	broad.mit.edu	37	19	53855452	53855452	+	Silent	SNP	A	A	G			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:53855452A>G	ENST00000595091.1	+	5	1743	c.1524A>G	c.(1522-1524)tcA>tcG	p.S508S	ZNF845_ENST00000458035.1_Silent_p.S508S			Q96IR2	ZN845_HUMAN	zinc finger protein 845	508					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTTTCAAATCAAACCTTGAAA	0.388																																						ENST00000458035.1		NA																	0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(1522-1524)tcA>tcG		zinc finger protein 845							22.0	21.0	21.0					19																	53855452		692	1590	2282	SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855452A>G	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1524A>G	19.37:g.53855452A>G		True	False		Somatic	0				ZNF845_ENST00000595091.1_Silent_p.S508S	p.S508S	NM_138374.1	NP_612383.1	WXS	Illumina HiSeq	Phase_I	Q96IR2	ZN845_HUMAN			4	1641	+			508						Silent	SNP	ENST00000595091.1	37	c.1524A>G	CCDS46170.1																																																																																				0.388	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	0	XM_039908		19:53855452
SESTD1	91404	broad.mit.edu	37	2	180014068	180014068	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:180014068C>G	ENST00000428443.3	-	7	853	c.537G>C	c.(535-537)ttG>ttC	p.L179F		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	179							phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			CATTGTTAATCAAAGCAAGTT	0.294																																						ENST00000428443.3		NA																	0				breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30						c.(535-537)ttG>ttC		SEC14 and spectrin domains 1							90.0	79.0	83.0					2																	180014068		2201	4297	6498	SO:0001583	missense	91404				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding	g.chr2:180014068C>G	AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.537G>C	2.37:g.180014068C>G	ENSP00000415332:p.Leu179Phe	True	False		Somatic	0					p.L179F	NM_178123.4	NP_835224.3	WXS	Illumina HiSeq	Phase_I	Q86VW0	SESD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)		7	853	-			179					Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Missense_Mutation	SNP	ENST00000428443.3	37	c.537G>C	CCDS33338.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.269212	0.23221	.	.	ENSG00000187231	ENST00000428443	T	0.05258	3.47	5.45	3.65	0.41850	.	0.133962	0.48286	D	0.000189	T	0.02610	0.0079	N	0.08118	0	0.47123	D	0.999326	B	0.29085	0.232	B	0.27170	0.077	T	0.50988	-0.8762	9	.	.	.	-11.3706	3.1066	0.06344	0.1961:0.5273:0.0:0.2766	.	179	Q86VW0	SESD1_HUMAN	F	179	ENSP00000415332:L179F	.	L	-	3	2	SESTD1	179722313	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.934000	0.28910	1.296000	0.44742	0.655000	0.94253	TTG		0.294	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	0	NM_178123		2:180014068
TPTE	7179	broad.mit.edu	37	21	10951332	10951332	+	Missense_Mutation	SNP	C	C	T	rs113140892	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr21:10951332C>T	ENST00000361285.4	-	10	709	c.380G>A	c.(379-381)cGt>cAt	p.R127H	TPTE_ENST00000342420.5_Missense_Mutation_p.R89H|TPTE_ENST00000298232.7_Missense_Mutation_p.R109H|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	127					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R109H(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGAAATAGAACGATACTCCAA	0.338																																						ENST00000298232.7		NA																	1	Substitution - Missense(1)	p.R109H(1)	central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(325-327)cGt>cAt		transmembrane phosphatase with tensin homology		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	99.0	107.0	104.0		326,266,380	0.9	0.0	21	dbSNP_132	104	1,8593		0,1,4296	no	missense,missense,missense	TPTE	NM_199259.2,NM_199260.2,NM_199261.2	29,29,29	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	109/534,89/514,127/552	10951332	1,12999	2203	4297	6500	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10951332C>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.380G>A	21.37:g.10951332C>T	ENSP00000355208:p.Arg127His	False	False		Somatic	0				TPTE_ENST00000342420.5_Missense_Mutation_p.R89H|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.R127H	p.R109H	NM_199259.2	NP_954868	WXS	Illumina HiSeq	Phase_I	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	9	693	-			127					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.326G>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	9.751	1.167533	0.21621	0.0	1.16E-4	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420;ENST00000328758	D;D;D	0.97430	-4.38;-4.38;-4.38	1.8	0.877	0.19145	.	0.456228	0.21930	U	0.067036	D	0.92140	0.7508	L	0.49126	1.545	0.09310	N	1	P;P;P	0.39759	0.687;0.687;0.56	B;B;B	0.30716	0.119;0.119;0.056	D	0.86249	0.1648	10	0.52906	T	0.07	-1.829	4.1712	0.10331	0.0:0.7811:0.0:0.2189	.	89;109;127	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	H	109;127;89;109	ENSP00000298232:R109H;ENSP00000355208:R127H;ENSP00000344441:R89H	ENSP00000298232:R109H	R	-	2	0	TPTE	9973203	0.000000	0.05858	0.031000	0.17742	0.132000	0.20833	-0.561000	0.05957	0.313000	0.23062	0.194000	0.17425	CGT		0.338	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1	0			21:10951332
GPR26	2849	broad.mit.edu	37	10	125426411	125426411	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr10:125426411C>T	ENST00000284674.1	+	1	541	c.488C>T	c.(487-489)cCa>cTa	p.P163L		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	163					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				AGCCGGCGGCCAGACGAGCGC	0.682																																						ENST00000284674.1		NA																	0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20						c.(487-489)cCa>cTa		G protein-coupled receptor 26							18.0	17.0	17.0					10																	125426411		2202	4296	6498	SO:0001583	missense	2849				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:125426411C>T		CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"""GPCR / Class A : Orphans"""	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.488C>T	10.37:g.125426411C>T	ENSP00000284674:p.Pro163Leu	False	False		Somatic	0					p.P163L	NM_153442.3	NP_703143.1	WXS	Illumina HiSeq	Phase_I	Q8NDV2	GPR26_HUMAN			1	541	+		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)	163					Q2M2E2	Missense_Mutation	SNP	ENST00000284674.1	37	c.488C>T	CCDS7636.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.472992	0.26423	.	.	ENSG00000154478	ENST00000284674	T	0.39229	1.09	4.02	3.02	0.34903	GPCR, rhodopsin-like superfamily (1);	0.137029	0.49916	D	0.000132	T	0.28632	0.0709	L	0.36672	1.1	0.51233	D	0.99991	B	0.09022	0.002	B	0.11329	0.006	T	0.07195	-1.0785	10	0.20046	T	0.44	-26.7238	8.7659	0.34702	0.1627:0.7461:0.0:0.0912	.	163	Q8NDV2	GPR26_HUMAN	L	163	ENSP00000284674:P163L	ENSP00000284674:P163L	P	+	2	0	GPR26	125416401	1.000000	0.71417	0.902000	0.35471	0.707000	0.40811	4.679000	0.61649	2.067000	0.61834	0.655000	0.94253	CCA		0.682	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050850.1	0			10:125426411
MYT1L	23040	broad.mit.edu	37	2	1893097	1893097	+	Silent	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:1893097G>A	ENST00000399161.2	-	16	3183	c.2436C>T	c.(2434-2436)ggC>ggT	p.G812G	MYT1L_ENST00000428368.2_Silent_p.G810G	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	812					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		AGTCGCCCTCGCCCAGCTGGA	0.582																																						ENST00000399161.2		NA																	0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(2434-2436)ggC>ggT		myelin transcription factor 1-like							71.0	77.0	75.0					2																	1893097		2041	4156	6197	SO:0001819	synonymous_variant	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1893097G>A	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2436C>T	2.37:g.1893097G>A		True	False		Somatic	0				MYT1L_ENST00000428368.2_Silent_p.G810G	p.G812G	NM_015025.2	NP_055840.2	WXS	Illumina HiSeq	Phase_I	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	16	3183	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	812					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37	c.2436C>T																																																																																					0.582	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	0	NM_015025		2:1893097
SGSM1	129049	broad.mit.edu	37	22	25294015	25294015	+	Missense_Mutation	SNP	A	A	G	rs373981289		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr22:25294015A>G	ENST00000400359.4	+	20	2271	c.2264A>G	c.(2263-2265)aAt>aGt	p.N755S	SGSM1_ENST00000400358.4_Missense_Mutation_p.N700S	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	755	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						AAGATCCCCAATGGGAACCTA	0.552																																						ENST00000400358.4		NA																	0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						c.(2098-2100)aAt>aGt		small G protein signaling modulator 1		A	SER/ASN,SER/ASN,SER/ASN,SER/ASN	0,4072		0,0,2036	66.0	77.0	74.0		2264,2099,1916,2081	3.1	1.0	22		74	1,8387		0,1,4193	no	missense,missense,missense,missense	SGSM1	NM_001039948.2,NM_001098497.1,NM_001098498.1,NM_133454.2	46,46,46,46	0,1,6229	GG,GA,AA		0.0119,0.0,0.0080	probably-damaging,probably-damaging,probably-damaging,probably-damaging	755/1149,700/1094,639/1033,694/1088	25294015	1,12459	2036	4194	6230	SO:0001583	missense	129049					Golgi apparatus	Rab GTPase activator activity	g.chr22:25294015A>G	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.2264A>G	22.37:g.25294015A>G	ENSP00000383212:p.Asn755Ser	False	False		Somatic	0				SGSM1_ENST00000400359.4_Missense_Mutation_p.N755S	p.N700S	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	WXS	Illumina HiSeq	Phase_I	Q2NKQ1	SGSM1_HUMAN			19	2156	+			755			Rab-GAP TBC.		A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	ENST00000400359.4	37	c.2099A>G	CCDS46674.1	.	.	.	.	.	.	.	.	.	.	A	8.860	0.946679	0.18356	0.0	1.19E-4	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.06608	3.29;3.28	5.24	3.13	0.36017	Rab-GAP/TBC domain (2);	0.054567	0.64402	U	0.000001	T	0.05640	0.0148	N	0.25890	0.77	0.50467	D	0.999874	P;P;P;P	0.50369	0.571;0.934;0.914;0.85	B;P;P;P	0.49276	0.121;0.53;0.605;0.449	T	0.33214	-0.9877	10	0.05351	T	0.99	-9.6086	8.7962	0.34881	0.8466:0.0:0.1534:0.0	.	700;755;772;755	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	S	755;700;755	ENSP00000383211:N700S;ENSP00000383212:N755S	ENSP00000383211:N700S	N	+	2	0	SGSM1	23624015	1.000000	0.71417	0.991000	0.47740	0.987000	0.75469	4.392000	0.59659	0.419000	0.25927	0.482000	0.46254	AAT		0.552	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	0	XM_059318		22:25294015
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	WXS	Illumina HiSeq	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	NM_033360		12:25398284
SNX29P2	440352	broad.mit.edu	37	16	29376089	29376089	+	RNA	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr16:29376089C>T	ENST00000507381.1	+	0	828				SNX29P2_ENST00000398878.3_lincRNA			Q8IUI4	S29P2_HUMAN	sorting nexin 29 pseudogene 2									p.S125F(1)									GAGCAGAACTCTGGGGACATG	0.453																																						ENST00000398878.3		NA																	1	Substitution - Missense(1)	p.S125F(1)	kidney(1)		NA															45.0	52.0	50.0					16																	29376089		2192	4295	6487			0							g.chr16:29376089C>T	BX648280		16p11.2	2014-03-21	2011-08-16	2011-08-16	ENSG00000198106	ENSG00000198106			31914	pseudogene	pseudogene			"""RUN domain containing 2C"""	RUNDC2C			Standard	NR_002939		Approved		uc021tfw.1	Q8IUI4			16.37:g.29376089C>T		False	False		Somatic	0				SNX29P2_ENST00000507381.1_RNA				WXS	Illumina HiSeq	Phase_I					0	1517	+			NA						RNA	SNP	ENST00000507381.1	37			.	.	.	.	.	.	.	.	.	.	C	0.868	-0.732981	0.03135	.	.	ENSG00000198106	ENST00000398878;ENST00000507381;ENST00000356328	.	.	.	1.53	0.484	0.16825	.	0.744318	0.13310	N	0.397537	T	0.25344	0.0616	.	.	.	0.23696	N	0.997083	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.18840	-1.0324	8	0.52906	T	0.07	-18.9288	2.8458	0.05542	0.0:0.4958:0.3074:0.1968	.	125;144	Q8IUI4;E9PDE2	RUN2B_HUMAN;.	F	125;144;125	.	ENSP00000348682:S125F	S	+	2	0	RUNDC2C	29283590	0.981000	0.34729	0.309000	0.25155	0.240000	0.25518	2.024000	0.41049	0.185000	0.20105	-0.746000	0.03513	TCT		0.453	SNX29P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361855.1	0	NR_002939		16:29376089
CHDC2	286464	broad.mit.edu	37	X	36090000	36090000	+	Silent	SNP	T	T	C			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chrX:36090000T>C	ENST00000313548.4	+	3	288	c.102T>C	c.(100-102)gcT>gcC	p.A34A		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	34						integral component of membrane (GO:0016021)											ACCAGGATGCTAAACCACCCT	0.378																																						ENST00000313548.4		NA																	0					NA						c.(100-102)gcT>gcC		calponin homology domain containing 2							93.0	78.0	83.0					X																	36090000		2202	4300	6502	SO:0001819	synonymous_variant	286464							g.chrX:36090000T>C	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"""chromosome X open reading frame 59"""	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.102T>C	X.37:g.36090000T>C		True	False		Somatic	0					p.A34A	NM_173695.2	NP_775966.1	WXS	Illumina HiSeq	Phase_I					3	288	+			NA						Silent	SNP	ENST00000313548.4	37	c.102T>C	CCDS14238.1																																																																																				0.378	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	NM_173695		X:36090000
SIGLEC14	100049587	broad.mit.edu	37	19	52149092	52149092	+	Missense_Mutation	SNP	C	C	T	rs111981406	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:52149092C>T	ENST00000360844.6	-	3	684	c.643G>A	c.(643-645)Gtg>Atg	p.V215M	SIGLEC5_ENST00000534261.2_5'Flank|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000599649.1_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	215	Ig-like C2-type 1.				cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.V215M(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TGGCGTTTCACCTGACAGGTG	0.647													C|||	4	0.000798722	0.0	0.0	5008	,	,		10676	0.002		0.001	False		,,,				2504	0.001					ENST00000360844.6		NA																	2	Substitution - Missense(2)	p.V215M(2)	central_nervous_system(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(643-645)Gtg>Atg		sialic acid binding Ig-like lectin 14							85.0	81.0	82.0					19																	52149092		2071	4198	6269	SO:0001583	missense	100049587				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	g.chr19:52149092C>T	AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32926	protein-coding gene	gene with protein product						17012248	Standard	NM_001098612		Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.643G>A	19.37:g.52149092C>T	ENSP00000354090:p.Val215Met	False	False		Somatic	0				SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000429354.3_Intron	p.V215M	NM_001098612.1	NP_001092082.1	WXS	Illumina HiSeq	Phase_I	Q08ET2	SIG14_HUMAN		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)	3	684	-		all_neural(266;0.0299)	215			Ig-like C2-type 1.		Q6UXG0	Missense_Mutation	SNP	ENST00000360844.6	37	c.643G>A	CCDS42604.1	5	0.0022893772893772895	1	0.0020325203252032522	0	0.0	3	0.005244755244755245	1	0.0013192612137203166	C	16.24	3.066375	0.55539	.	.	ENSG00000254415	ENST00000360844	D	0.89810	-2.57	3.1	3.1	0.35709	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.41396	D	0.000886	D	0.90628	0.7061	M	0.85859	2.78	0.19775	N	0.999952	D	0.64830	0.994	P	0.60345	0.873	D	0.83788	0.0229	10	0.66056	D	0.02	.	9.82	0.40876	0.0:1.0:0.0:0.0	.	215	Q08ET2	SIG14_HUMAN	M	215	ENSP00000354090:V215M	ENSP00000354090:V215M	V	-	1	0	SIGLEC14	56840904	0.048000	0.20356	0.215000	0.23724	0.789000	0.44602	1.698000	0.37794	1.755000	0.51935	0.514000	0.50259	GTG		0.647	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466899.2	0	NM_001098612		19:52149092
GRIA4	2893	broad.mit.edu	37	11	105836750	105836750	+	Intron	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:105836750G>A	ENST00000530497.1	+	14	2294				GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000393127.2_Missense_Mutation_p.D791N|GRIA4_ENST00000282499.5_Intron|GRIA4_ENST00000525187.1_Missense_Mutation_p.D791N			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4						glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.D791N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		ATGGTGGTACGACAAAGGAGA	0.418																																						ENST00000393127.2		NA																	1	Substitution - Missense(1)	p.D791N(1)	skin(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82						c.(2371-2373)Gac>Aac		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						76.0	79.0	78.0					11																	105836750		2197	4299	6496	SO:0001627	intron_variant	0				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105836750G>A	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.2295-5891G>A	11.37:g.105836750G>A		False	False		Somatic	0				GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000525187.1_Missense_Mutation_p.D791N|GRIA4_ENST00000530497.1_Intron|GRIA4_ENST00000282499.5_Intron	p.D791N	NM_001077243.2	NP_001070711	WXS	Illumina HiSeq	Phase_I	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	15	2817	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	791					Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.2371G>A	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	G	35	5.503792	0.96371	.	.	ENSG00000152578	ENST00000393127;ENST00000525187;ENST00000539249	T;T	0.38401	1.14;1.14	6.03	6.03	0.97812	.	.	.	.	.	T	0.57888	0.2084	L	0.52759	1.655	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.50448	-0.8827	9	0.46703	T	0.11	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	791	G3V164	.	N	791;791;96	ENSP00000376835:D791N;ENSP00000432180:D791N	ENSP00000376835:D791N	D	+	1	0	GRIA4	105341960	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.835000	0.99442	2.861000	0.98227	0.655000	0.94253	GAC		0.418	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1	0			11:105836750
PIF1	80119	broad.mit.edu	37	15	65116102	65116102	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr15:65116102G>A	ENST00000268043.4	-	2	527	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	PIF1_ENST00000333425.6_Missense_Mutation_p.R145C|PIF1_ENST00000559239.1_Missense_Mutation_p.R145C					PIF1 5'-to-3' DNA helicase											kidney(1)|lung(1)	2						ACGAAGTCGCGGGGCCGCGGG	0.761																																						ENST00000268043.4		NA																	0				kidney(1)|lung(1)	2						c.(433-435)Cgc>Tgc		PIF1 5'-to-3' DNA helicase							4.0	5.0	5.0					15																	65116102		1528	3381	4909	SO:0001583	missense	80119				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding	g.chr15:65116102G>A	AK026345	CCDS10195.2, CCDS66797.1	15q22.1	2013-05-13	2013-05-13	2006-11-24	ENSG00000140451	ENSG00000140451	3.6.4.12		26220	protein-coding gene	gene with protein product		610953	"""chromosome 15 open reading frame 20"", ""PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae)"""	C15orf20		10926538, 16522649	Standard	NM_025049		Approved	FLJ22692	uc002ant.2	Q9H611	OTTHUMG00000132974	ENST00000268043.4:c.433C>T	15.37:g.65116102G>A	ENSP00000268043:p.Arg145Cys	True	False		Somatic	0				PIF1_ENST00000333425.6_Missense_Mutation_p.R145C|PIF1_ENST00000559239.1_Missense_Mutation_p.R145C	p.R145C			WXS	Illumina HiSeq	Phase_I	Q9H611	PIF1_HUMAN			2	527	-			145						Missense_Mutation	SNP	ENST00000268043.4	37	c.433C>T	CCDS10195.2	.	.	.	.	.	.	.	.	.	.	G	14.41	2.528021	0.44969	.	.	ENSG00000140451	ENST00000268043;ENST00000333425	T;T	0.78364	-0.14;-1.17	4.47	4.47	0.54385	.	0.272984	0.35677	N	0.003051	T	0.80385	0.4613	M	0.61703	1.905	0.53688	D	0.999977	D;D	0.69078	0.968;0.997	B;P	0.49999	0.406;0.628	T	0.83148	-0.0105	10	0.59425	D	0.04	-11.2753	15.0059	0.71513	0.0:0.0:1.0:0.0	.	145;145	Q9H611-2;Q9H611	.;PIF1_HUMAN	C	145	ENSP00000268043:R145C;ENSP00000328174:R145C	ENSP00000268043:R145C	R	-	1	0	PIF1	62903155	1.000000	0.71417	0.996000	0.52242	0.071000	0.16799	4.455000	0.60075	2.188000	0.69820	0.313000	0.20887	CGC		0.761	PIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256533.1	0	NM_025049		15:65116102
PRMT8	56341	broad.mit.edu	37	12	3701463	3701463	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:3701463G>A	ENST00000382622.3	+	9	1436	c.1046G>A	c.(1045-1047)cGg>cAg	p.R349Q	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.R340Q	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	349	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.R349Q(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CTCACTGTCCGGAGGGGGGAG	0.542																																						ENST00000382622.3		NA																	1	Substitution - Missense(1)	p.R349Q(1)	lung(1)	breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37						c.(1045-1047)cGg>cAg		protein arginine methyltransferase 8							123.0	124.0	124.0					12																	3701463		2203	4300	6503	SO:0001583	missense	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3701463G>A	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.1046G>A	12.37:g.3701463G>A	ENSP00000372067:p.Arg349Gln	False	False		Somatic	0				PRMT8_ENST00000452611.2_Missense_Mutation_p.R340Q|PRMT8_ENST00000261252.4_3'UTR	p.R349Q	NM_019854.4	NP_062828.3	WXS	Illumina HiSeq	Phase_I	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		9	1436	+			349					B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	c.1046G>A	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	G	15.73	2.920919	0.52653	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.76316	-1.01;-1.01	5.24	5.24	0.73138	.	0.045992	0.85682	D	0.000000	T	0.68035	0.2957	N	0.25647	0.755	0.43476	D	0.995693	B;B	0.18863	0.031;0.01	B;B	0.16722	0.016;0.007	T	0.63462	-0.6632	10	0.37606	T	0.19	.	16.3206	0.82950	0.0:0.0:1.0:0.0	.	340;349	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	Q	340;349	ENSP00000414507:R340Q;ENSP00000372067:R349Q	ENSP00000372067:R349Q	R	+	2	0	PRMT8	3571724	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.377000	0.52425	2.440000	0.82611	0.561000	0.74099	CGG		0.542	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	0	NM_019854		12:3701463
MS4A1	931	broad.mit.edu	37	11	60235849	60235849	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:60235849C>T	ENST00000534668.1	+	7	1091	c.802C>T	c.(802-804)Caa>Taa	p.Q268*	MS4A1_ENST00000532073.1_Nonsense_Mutation_p.Q255*|MS4A1_ENST00000389939.2_Nonsense_Mutation_p.Q268*|MS4A1_ENST00000345732.4_Nonsense_Mutation_p.Q268*|MS4A1_ENST00000528313.1_Nonsense_Mutation_p.Q101*	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	268					B cell proliferation (GO:0042100)|humoral immune response (GO:0006959)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	MHC class II protein complex binding (GO:0023026)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081)	TATTCCAATCCAAGAAGAGGA	0.373																																						ENST00000534668.1		NA																	0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(802-804)Caa>Taa		membrane-spanning 4-domains, subfamily A, member 1	Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)						85.0	83.0	84.0					11																	60235849		2203	4300	6503	SO:0001587	stop_gained	931				B cell activation|immune response	integral to plasma membrane		g.chr11:60235849C>T	M27394	CCDS31570.1	11q12-q13.1	2014-09-17				ENSG00000156738		"""CD molecules"""	7315	protein-coding gene	gene with protein product		112210		CD20		2448768	Standard	NM_152866		Approved	B1, Bp35, MS4A2	uc001npq.3	P11836		ENST00000534668.1:c.802C>T	11.37:g.60235849C>T	ENSP00000433277:p.Gln268*	True	False		Somatic	0				MS4A1_ENST00000528313.1_Nonsense_Mutation_p.Q101*|MS4A1_ENST00000532073.1_Nonsense_Mutation_p.Q255*|MS4A1_ENST00000389939.2_Nonsense_Mutation_p.Q268*|MS4A1_ENST00000345732.4_Nonsense_Mutation_p.Q268*	p.Q268*	NM_152866.2	NP_690605.1	WXS	Illumina HiSeq	Phase_I	P11836	CD20_HUMAN			7	1091	+			268					A6NMS4|B4DT24|P08984|Q13963	Nonsense_Mutation	SNP	ENST00000534668.1	37	c.802C>T	CCDS31570.1	.	.	.	.	.	.	.	.	.	.	C	33	5.224347	0.95139	.	.	ENSG00000156738	ENST00000345732;ENST00000532073;ENST00000534668;ENST00000528313;ENST00000389939	.	.	.	5.32	3.34	0.38264	.	0.624912	0.17254	N	0.181052	.	.	.	.	.	.	0.51482	D	0.999925	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-22.9187	8.6631	0.34103	0.158:0.6261:0.2159:0.0	.	.	.	.	X	268;255;268;101;268	.	ENSP00000314620:Q268X	Q	+	1	0	MS4A1	59992425	0.973000	0.33851	0.913000	0.36048	0.966000	0.64601	2.113000	0.41902	0.651000	0.30788	0.655000	0.94253	CAA		0.373	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395402.1	0			11:60235849
GRIK4	2900	broad.mit.edu	37	11	120776148	120776148	+	Silent	SNP	C	C	T	rs144767530		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:120776148C>T	ENST00000527524.2	+	13	1709	c.1422C>T	c.(1420-1422)ggC>ggT	p.G474G	GRIK4_ENST00000438375.2_Silent_p.G474G	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	474					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.G474G(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		GCGTGTACGGCGTTCCCGAGG	0.612																																						ENST00000527524.2		NA																	1	Substitution - coding silent(1)	p.G474G(1)	ovary(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69						c.(1420-1422)ggC>ggT		glutamate receptor, ionotropic, kainate 4	L-Glutamic Acid(DB00142)						133.0	131.0	132.0					11																	120776148		2203	4299	6502	SO:0001819	synonymous_variant	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120776148C>T	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1422C>T	11.37:g.120776148C>T		False	False		Somatic	0				GRIK4_ENST00000438375.2_Silent_p.G474G	p.G474G	NM_001282470.1	NP_001269399.1	WXS	Illumina HiSeq	Phase_I	Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	13	1709	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	474					A8K9L1	Silent	SNP	ENST00000527524.2	37	c.1422C>T	CCDS8433.1																																																																																				0.612	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	0	NM_014619		11:120776148
GPR153	387509	broad.mit.edu	37	1	6313858	6313858	+	Missense_Mutation	SNP	C	C	T	rs189356842		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:6313858C>T	ENST00000377893.2	-	3	965	c.706G>A	c.(706-708)Gcc>Acc	p.A236T		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		GAGGTTTTGGCGGGCTCCGAG	0.677													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17995	0.0		0.0	False		,,,				2504	0.0					ENST00000377893.2		NA																	0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14						c.(706-708)Gcc>Acc		G protein-coupled receptor 153							77.0	79.0	79.0					1																	6313858		2201	4300	6501	SO:0001583	missense	387509					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:6313858C>T	AY255529	CCDS64.1	1p36.31	2012-08-21			ENSG00000158292	ENSG00000158292		"""GPCR / Class A : Orphans"""	23618	protein-coding gene	gene with protein product		614269				12679517	Standard	NM_207370		Approved	PGR1	uc001amp.2	Q6NV75	OTTHUMG00000001272	ENST00000377893.2:c.706G>A	1.37:g.6313858C>T	ENSP00000367125:p.Ala236Thr	True	False		Somatic	0					p.A236T	NM_207370.2	NP_997253.2	WXS	Illumina HiSeq	Phase_I	Q6NV75	GP153_HUMAN		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)	3	965	-	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	236					Q5TGR5|Q6AHW8|Q86SP8	Missense_Mutation	SNP	ENST00000377893.2	37	c.706G>A	CCDS64.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	12.87	2.067016	0.36470	.	.	ENSG00000158292	ENST00000377893	T	0.71934	-0.61	4.9	3.77	0.43336	GPCR, rhodopsin-like superfamily (1);	0.373744	0.28914	N	0.013730	T	0.56949	0.2020	N	0.19112	0.55	0.29397	N	0.86221	D	0.54772	0.968	P	0.47346	0.544	T	0.53753	-0.8394	10	0.28530	T	0.3	-50.623	9.4756	0.38869	0.0:0.8127:0.0:0.1873	.	236	Q6NV75	GP153_HUMAN	T	236	ENSP00000367125:A236T	ENSP00000367125:A236T	A	-	1	0	GPR153	6236445	0.042000	0.20092	0.950000	0.38849	0.814000	0.46013	0.331000	0.19733	2.277000	0.76020	0.462000	0.41574	GCC		0.677	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003717.2	0			1:6313858
OR14A16	284532	broad.mit.edu	37	1	247978702	247978702	+	Silent	SNP	C	C	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:247978702C>A	ENST00000357627.1	-	1	329	c.330G>T	c.(328-330)ctG>ctT	p.L110L		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TGAGGAGGAGCAGCTCTGCAG	0.468																																					Ovarian(112;180 1586 15073 21914 33526)	ENST00000357627.1		NA																	0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						c.(328-330)ctG>ctT		olfactory receptor, family 14, subfamily A, member 16							108.0	102.0	104.0					1																	247978702		2203	4300	6503	SO:0001819	synonymous_variant	284532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247978702C>A	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"""GPCR / Class A : Olfactory receptors"""	15022	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AT, member 1"""	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.330G>T	1.37:g.247978702C>A		True	False		Somatic	0					p.L110L	NM_001001966.1	NP_001001966.1	WXS	Illumina HiSeq	Phase_I	Q8NHC5	O14AG_HUMAN			1	329	-			110					Q6IF96	Silent	SNP	ENST00000357627.1	37	c.330G>T	CCDS31097.1																																																																																				0.468	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	0	NM_001001966		1:247978702
SLC7A2	6542	broad.mit.edu	37	8	17409385	17409385	+	Silent	SNP	G	G	A	rs141741899		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr8:17409385G>A	ENST00000494857.1	+	7	1163	c.945G>A	c.(943-945)ccG>ccA	p.P315P	SLC7A2_ENST00000004531.10_Silent_p.P355P|SLC7A2_ENST00000398090.3_Silent_p.P355P|SLC7A2_ENST00000470360.1_Silent_p.P355P|SLC7A2_ENST00000522656.1_Silent_p.P315P	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	315					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	TTATGATGCCGTACTACCTCC	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		15404	0.0		0.0	False		,,,				2504	0.001					ENST00000470360.1		NA																	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25						c.(1063-1065)ccG>ccA		solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	L-Lysine(DB00123)|L-Ornithine(DB00129)	G	,,	2,4404	4.2+/-10.8	0,2,2201	216.0	200.0	205.0		945,1065,1065	-10.8	0.0	8	dbSNP_134	205	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC7A2	NM_001008539.3,NM_001164771.1,NM_003046.5	,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,	315/659,355/699,355/698	17409385	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6542				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	g.chr8:17409385G>A	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"""Solute carriers"""	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.945G>A	8.37:g.17409385G>A		False	False		Somatic	0				SLC7A2_ENST00000398090.3_Silent_p.P355P|SLC7A2_ENST00000004531.10_Silent_p.P355P|SLC7A2_ENST00000494857.1_Silent_p.P315P|SLC7A2_ENST00000522656.1_Silent_p.P315P	p.P355P			WXS	Illumina HiSeq	Phase_I	P52569	CTR2_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	8	1182	+			315					B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Silent	SNP	ENST00000494857.1	37	c.1065G>A	CCDS34852.1																																																																																				0.483	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	0	NM_003046		8:17409385
FCGBP	8857	broad.mit.edu	37	19	40395919	40395919	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:40395919G>A	ENST00000221347.6	-	15	7485	c.7478C>T	c.(7477-7479)gCc>gTc	p.A2493V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2493	VWFD 6. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)		p.A2493V(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGCAGGACGGCAAACCGATG	0.627																																						ENST00000221347.6		NA																	1	Substitution - Missense(1)	p.A2493V(1)	urinary_tract(1)	NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(7477-7479)gCc>gTc		Fc fragment of IgG binding protein							214.0	180.0	192.0					19																	40395919		2152	3957	6109	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40395919G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.7478C>T	19.37:g.40395919G>A	ENSP00000221347:p.Ala2493Val	False	False		Somatic	0					p.A2493V	NM_003890.2	NP_003881.2	WXS	Illumina HiSeq	Phase_I	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		15	7485	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		2493			VWFD 6.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.7478C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.698696	0.48307	.	.	ENSG00000090920	ENST00000221347	T	0.58210	0.35	2.91	2.91	0.33838	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.43055	0.1230	N	0.22421	0.69	0.09310	N	1	B	0.29188	0.236	B	0.37989	0.262	T	0.36212	-0.9757	9	0.23302	T	0.38	.	13.0539	0.58969	0.0:0.0:1.0:0.0	.	2493	Q9Y6R7	FCGBP_HUMAN	V	2493	ENSP00000221347:A2493V	ENSP00000221347:A2493V	A	-	2	0	FCGBP	45087759	0.000000	0.05858	0.012000	0.15200	0.130000	0.20726	0.716000	0.25836	1.649000	0.50652	0.298000	0.19748	GCC		0.627	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	0	NM_003890		19:40395919
MRPL45	84311	broad.mit.edu	37	17	36478035	36478035	+	Silent	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr17:36478035C>T	ENST00000312513.5	+	7	848	c.687C>T	c.(685-687)ggC>ggT	p.G229G		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	229						mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ACCGGTTTGGCCGGTTGATGT	0.438																																						ENST00000312513.5		NA																	0				breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13						c.(685-687)ggC>ggT		mitochondrial ribosomal protein L45							120.0	113.0	115.0					17																	36478035		2203	4300	6503	SO:0001819	synonymous_variant	84311				intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome	g.chr17:36478035C>T	BC006235	CCDS11326.1, CCDS74047.1	17q21.2	2014-05-06			ENSG00000174100	ENSG00000278845		"""Mitochondrial ribosomal proteins / large subunits"""	16651	protein-coding gene	gene with protein product		611850				11551941, 12706105	Standard	XM_006725366		Approved	MGC11321	uc002hpy.3	Q9BRJ2	OTTHUMG00000188489	ENST00000312513.5:c.687C>T	17.37:g.36478035C>T		False	False		Somatic	0					p.G229G	NM_032351.4	NP_115727.4	WXS	Illumina HiSeq	Phase_I	Q9BRJ2	RM45_HUMAN			7	848	+	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	229					A1L436|Q6ZMJ5	Silent	SNP	ENST00000312513.5	37	c.687C>T	CCDS11326.1																																																																																				0.438	MRPL45-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256792.3	0	NM_032351		17:36478035
PCNX	22990	broad.mit.edu	37	14	71500186	71500186	+	Missense_Mutation	SNP	T	T	G			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr14:71500186T>G	ENST00000304743.2	+	17	4045	c.3599T>G	c.(3598-3600)aTt>aGt	p.I1200S	PCNX_ENST00000238570.5_Missense_Mutation_p.I1200S|PCNX_ENST00000439984.3_Missense_Mutation_p.I1089S	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1200						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CTTTTCTCCATTTTTTGTGGT	0.338																																						ENST00000304743.2		NA																	0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(3598-3600)aTt>aGt		pecanex homolog (Drosophila)							168.0	150.0	156.0					14																	71500186		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71500186T>G	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.3599T>G	14.37:g.71500186T>G	ENSP00000304192:p.Ile1200Ser	True	False		Somatic	0				PCNX_ENST00000238570.5_Missense_Mutation_p.I1200S|PCNX_ENST00000439984.3_Missense_Mutation_p.I1089S	p.I1200S	NM_014982.2	NP_055797.2	WXS	Illumina HiSeq	Phase_I	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	17	4045	+			1200					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.3599T>G	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.1|20.1	3.934512|3.934512	0.73442|0.73442	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000554691|ENST00000304743;ENST00000238570;ENST00000439984	.|T;T;T	.|0.11063	.|3.25;3.23;2.81	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|0.547984	.|0.21165	.|N	.|0.079081	T|T	0.14743|0.14743	0.0356|0.0356	L|L	0.43923|0.43923	1.385|1.385	0.25807|0.25807	N|N	0.984448|0.984448	.|B;B;B	.|0.21606	.|0.039;0.037;0.058	.|B;B;B	.|0.31191	.|0.125;0.053;0.085	T|T	0.13442|0.13442	-1.0509|-1.0509	5|10	.|0.87932	.|D	.|0	.|.	15.9971|15.9971	0.80260|0.80260	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1200;1089;1200	.|Q96RV3-3;B2RTR6;Q96RV3	.|.;.;PCX1_HUMAN	V|S	259|1200;1200;1089	.|ENSP00000304192:I1200S;ENSP00000238570:I1200S;ENSP00000396617:I1089S	.|ENSP00000238570:I1200S	F|I	+|+	1|2	0|0	PCNX|PCNX	70569939|70569939	1.000000|1.000000	0.71417|0.71417	0.286000|0.286000	0.24833|0.24833	0.995000|0.995000	0.86356|0.86356	7.436000|7.436000	0.80404|0.80404	2.186000|2.186000	0.69663|0.69663	0.528000|0.528000	0.53228|0.53228	TTT|ATT		0.338	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	0	NM_014982		14:71500186
EFCAB6	64800	broad.mit.edu	37	22	43996133	43996133	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr22:43996133C>T	ENST00000262726.7	-	23	2945	c.2692G>A	c.(2692-2694)Gag>Aag	p.E898K	EFCAB6_ENST00000396231.2_Missense_Mutation_p.E746K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	898	EF-hand 10. {ECO:0000255|PROSITE- ProRule:PRU00448}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.E898K(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CCTTTTCCCTCGGTGTCGTAT	0.428																																						ENST00000262726.7		NA																	1	Substitution - Missense(1)	p.E898K(1)	lung(1)	breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(2692-2694)Gag>Aag		EF-hand calcium binding domain 6							112.0	115.0	114.0					22																	43996133		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:43996133C>T	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.2692G>A	22.37:g.43996133C>T	ENSP00000262726:p.Glu898Lys	False	False		Somatic	0				EFCAB6_ENST00000396231.2_Missense_Mutation_p.E746K	p.E898K	NM_022785.3	NP_073622.2	WXS	Illumina HiSeq	Phase_I	Q5THR3	EFCB6_HUMAN			23	2945	-		Ovarian(80;0.0247)|all_neural(38;0.025)	898			EF-hand 10.		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.2692G>A	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.149491	0.37923	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.07800	3.16;3.16	5.0	2.86	0.33363	EF-hand-like domain (1);	0.251434	0.29940	N	0.010811	T	0.07999	0.0200	L	0.59436	1.845	0.22468	N	0.999077	P;D	0.56746	0.897;0.977	B;B	0.39465	0.196;0.3	T	0.31779	-0.9931	10	0.25751	T	0.34	-28.7596	9.1154	0.36755	0.0:0.8248:0.0:0.1752	.	746;898	Q5THR3-2;Q5THR3	.;EFCB6_HUMAN	K	746;898	ENSP00000379533:E746K;ENSP00000262726:E898K	ENSP00000262726:E898K	E	-	1	0	EFCAB6	42327466	0.060000	0.20803	0.872000	0.34217	0.680000	0.39746	1.029000	0.30140	1.333000	0.45449	0.655000	0.94253	GAG		0.428	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	0	NM_022785		22:43996133
FPR1	2357	broad.mit.edu	37	19	52249584	52249584	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:52249584C>T	ENST00000595042.1	-	3	805	c.664G>A	c.(664-666)Ggg>Agg	p.G222R	FPR1_ENST00000304748.4_Missense_Mutation_p.G222R	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	222					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GCAATAAGCCCATAACTGACA	0.517																																						ENST00000595042.1		NA																	0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20						c.(664-666)Ggg>Agg		formyl peptide receptor 1	Nedocromil(DB00716)						122.0	110.0	114.0					19																	52249584		2203	4300	6503	SO:0001583	missense	2357				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52249584C>T	M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"""GPCR / Class A : Formyl peptide receptors"""	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.664G>A	19.37:g.52249584C>T	ENSP00000471493:p.Gly222Arg	True	False		Somatic	0				FPR1_ENST00000304748.4_Missense_Mutation_p.G222R	p.G222R	NM_001193306.1	NP_001180235.1	WXS	Illumina HiSeq	Phase_I	P21462	FPR1_HUMAN		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	3	805	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	222					Q14939|Q7Z6A4|Q86U52|Q9NS48	Missense_Mutation	SNP	ENST00000595042.1	37	c.664G>A	CCDS12839.1	.	.	.	.	.	.	.	.	.	.	.	12.24	1.878537	0.33162	.	.	ENSG00000171051	ENST00000304748	T	0.72725	-0.68	3.65	3.65	0.41850	GPCR, rhodopsin-like superfamily (1);	0.431534	0.23098	N	0.051955	D	0.85465	0.5703	M	0.94063	3.49	0.30381	N	0.781935	D	0.89917	1.0	D	0.87578	0.998	T	0.82550	-0.0401	10	0.62326	D	0.03	.	7.6654	0.28428	0.0:0.8765:0.0:0.1235	.	222	P21462	FPR1_HUMAN	R	222	ENSP00000302707:G222R	ENSP00000302707:G222R	G	-	1	0	FPR1	56941396	0.000000	0.05858	0.484000	0.27391	0.048000	0.14542	0.029000	0.13666	1.956000	0.56807	0.650000	0.86243	GGG		0.517	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	0	NM_002029		19:52249584
TNR	7143	broad.mit.edu	37	1	175365844	175365844	+	Missense_Mutation	SNP	T	T	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:175365844T>A	ENST00000367674.2	-	5	1784	c.1076A>T	c.(1075-1077)tAc>tTc	p.Y359F	TNR_ENST00000263525.2_Missense_Mutation_p.Y359F			Q92752	TENR_HUMAN	tenascin R	359	Fibronectin type-III 1. {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)				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)					CGTCGGCTGGTAAGAGATCAC	0.617																																						ENST00000367674.2		NA																	0				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.(1075-1077)tAc>tTc		tenascin R							74.0	75.0	75.0					1																	175365844		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175365844T>A	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.1076A>T	1.37:g.175365844T>A	ENSP00000356646:p.Tyr359Phe	False	False		Somatic	0				TNR_ENST00000263525.2_Missense_Mutation_p.Y359F	p.Y359F			WXS	Illumina HiSeq	Phase_I	Q92752	TENR_HUMAN			5	1784	-	Renal(580;0.146)		NA			Fibronectin type-III 1.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.1076A>T	CCDS1318.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	29.5|29.5	5.010028|5.010028	0.93346|0.93346	.|.	.|.	ENSG00000116147|ENSG00000116147	ENST00000422274|ENST00000367674;ENST00000263525;ENST00000367673	.|T;T	.|0.61859	.|0.07;0.07	5.96|5.96	5.96|5.96	0.96718|0.96718	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.067516	.|0.64402	.|D	.|0.000009	T|T	0.72342|0.72342	0.3448|0.3448	L|L	0.54965|0.54965	1.715|1.715	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.87578	.|0.998	T|T	0.72779|0.72779	-0.4190|-0.4190	5|10	.|0.51188	.|T	.|0.08	.|.	16.0892|16.0892	0.81080|0.81080	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|359	.|Q92752	.|TENR_HUMAN	F|F	83|359	.|ENSP00000356646:Y359F;ENSP00000263525:Y359F	.|ENSP00000263525:Y359F	L|Y	-|-	3|2	2|0	TNR|TNR	173632467|173632467	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.774000|3.774000	0.55341|0.55341	2.279000|2.279000	0.76181|0.76181	0.533000|0.533000	0.62120|0.62120	TTA|TAC		0.617	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	0	NM_003285		1:175365844
DUOXA2	405753	broad.mit.edu	37	15	45410081	45410081	+	Missense_Mutation	SNP	T	T	G			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr15:45410081T>G	ENST00000323030.5	+	6	1222	c.937T>G	c.(937-939)Tta>Gta	p.L313V	DUOXA1_ENST00000558996.1_3'UTR|DUOXA1_ENST00000559014.1_Intron|DUOXA1_ENST00000430224.2_Intron|DUOXA1_ENST00000267803.4_Intron	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	313					hydrogen peroxide metabolic process (GO:0042743)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		TCTCCCAGACTTAAAATGTAT	0.627											OREG0023102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000323030.5		NA																	0					NA						c.(937-939)Tta>Gta		dual oxidase maturation factor 2							56.0	67.0	63.0					15																	45410081		2198	4298	6496	SO:0001583	missense	405753				protein transport	endoplasmic reticulum membrane|integral to membrane		g.chr15:45410081T>G	BX537581	CCDS10118.2	15q21.1	2008-10-30		2006-07-25	ENSG00000140274	ENSG00000140274			32698	protein-coding gene	gene with protein product		612772				16651268	Standard	NM_207581		Approved		uc001zuo.3	Q1HG44	OTTHUMG00000131354	ENST00000323030.5:c.937T>G	15.37:g.45410081T>G	ENSP00000319705:p.Leu313Val	False	False		Somatic	0	OREG0023102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	931	DUOXA1_ENST00000430224.2_Intron|DUOXA1_ENST00000559014.1_Intron|DUOXA1_ENST00000267803.4_Intron|DUOXA1_ENST00000558996.1_3'UTR	p.L313V	NM_207581.3	NP_997464.2	WXS	Illumina HiSeq	Phase_I	Q1HG44	DOXA2_HUMAN		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)	6	1222	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	313					B2RPI9|H0YNQ6	Missense_Mutation	SNP	ENST00000323030.5	37	c.937T>G	CCDS10118.2	.	.	.	.	.	.	.	.	.	.	T	12.13	1.847058	0.32606	.	.	ENSG00000140274	ENST00000323030	T	0.58060	0.36	4.74	0.676	0.17958	.	1.222260	0.05905	N	0.630659	T	0.29684	0.0741	N	0.08118	0	0.09310	N	0.999996	B	0.22800	0.075	B	0.19148	0.024	T	0.19976	-1.0289	10	0.34782	T	0.22	-0.0761	4.5387	0.12047	0.3478:0.0:0.18:0.4722	.	313	Q1HG44	DOXA2_HUMAN	V	313	ENSP00000319705:L313V	ENSP00000319705:L313V	L	+	1	2	DUOXA2	43197373	0.002000	0.14202	0.005000	0.12908	0.048000	0.14542	0.541000	0.23207	0.346000	0.23899	0.459000	0.35465	TTA		0.627	DUOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254142.1	0	NM_207581		15:45410081
FEM1B	10116	broad.mit.edu	37	15	68583276	68583276	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr15:68583276C>T	ENST00000306917.4	+	2	2195	c.1580C>T	c.(1579-1581)gCc>gTc	p.A527V		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	527					apoptotic process (GO:0006915)|branching involved in prostate gland morphogenesis (GO:0060442)|epithelial cell maturation involved in prostate gland development (GO:0060743)|regulation of DNA damage checkpoint (GO:2000001)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death receptor binding (GO:0005123)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						GAGGTGAATGCCGTGGACAAT	0.463																																						ENST00000306917.4		NA																	0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						c.(1579-1581)gCc>gTc		fem-1 homolog b (C. elegans)							218.0	198.0	205.0					15																	68583276		2200	4298	6498	SO:0001583	missense	10116				apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity	g.chr15:68583276C>T		CCDS10228.1	15q22	2013-02-19	2001-11-28		ENSG00000169018	ENSG00000169018		"""Ankyrin repeat domain containing"""	3649	protein-coding gene	gene with protein product		613539	"""FEM-1 (C. elegans) homolog b"""			10623617	Standard	NM_015322		Approved		uc002arg.3	Q9UK73	OTTHUMG00000133285	ENST00000306917.4:c.1580C>T	15.37:g.68583276C>T	ENSP00000307298:p.Ala527Val	False	False		Somatic	0					p.A527V	NM_015322.4	NP_056137.1	WXS	Illumina HiSeq	Phase_I	Q9UK73	FEM1B_HUMAN			2	2195	+			527					O43146	Missense_Mutation	SNP	ENST00000306917.4	37	c.1580C>T	CCDS10228.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905847	0.72868	.	.	ENSG00000169018	ENST00000306917	T	0.71698	-0.59	5.88	5.88	0.94601	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.77150	0.4088	L	0.58510	1.815	0.80722	D	1	D	0.55172	0.97	P	0.52646	0.705	T	0.74185	-0.3747	10	0.34782	T	0.22	-0.258	19.2149	0.93772	0.0:1.0:0.0:0.0	.	527	Q9UK73	FEM1B_HUMAN	V	527	ENSP00000307298:A527V	ENSP00000307298:A527V	A	+	2	0	FEM1B	66370330	1.000000	0.71417	0.967000	0.41034	0.953000	0.61014	5.948000	0.70249	2.791000	0.96007	0.491000	0.48974	GCC		0.463	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257065.1	0			15:68583276
MYL9	10398	broad.mit.edu	37	20	35177521	35177521	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr20:35177521A>G	ENST00000279022.2	+	4	492	c.388A>G	c.(388-390)Atg>Gtg	p.M130V	MYL9_ENST00000346786.2_Missense_Mutation_p.M76V|RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.11_ENST00000561134.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	130	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				axon guidance (GO:0007411)|muscle contraction (GO:0006936)|platelet aggregation (GO:0070527)|regulation of muscle contraction (GO:0006937)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GCTCACCACCATGGGTGACCG	0.577																																						ENST00000279022.2		NA																	0				endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8						c.(388-390)Atg>Gtg		myosin, light chain 9, regulatory							96.0	83.0	87.0					20																	35177521		2203	4300	6503	SO:0001583	missense	10398				axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle	g.chr20:35177521A>G	J02854	CCDS13276.1, CCDS13277.1	20q11.23	2013-01-10	2006-09-29		ENSG00000101335	ENSG00000101335		"""Myosins / Light chain"", ""EF-hand domain containing"""	15754	protein-coding gene	gene with protein product	"""myosin regulatory light chain 2, smooth muscle isoform"", ""myosin regulatory light chain 1"""	609905	"""myosin, light polypeptide 9, regulatory"""			2526655	Standard	NM_006097		Approved	MYRL2, MLC2, LC20, MRLC1	uc002xfl.2	P24844	OTTHUMG00000032387	ENST00000279022.2:c.388A>G	20.37:g.35177521A>G	ENSP00000279022:p.Met130Val	False	False		Somatic	0				RP5-977B1.7_ENST00000425233.1_RNA|MYL9_ENST00000346786.2_Missense_Mutation_p.M76V|RP5-977B1.7_ENST00000439595.1_RNA	p.M130V	NM_006097.4	NP_006088.2	WXS	Illumina HiSeq	Phase_I	P24844	MYL9_HUMAN			4	492	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	130			EF-hand 2.		E1P5T6|Q9BQL9|Q9BUF9|Q9H136	Missense_Mutation	SNP	ENST00000279022.2	37	c.388A>G	CCDS13276.1	.	.	.	.	.	.	.	.	.	.	A	18.75	3.690061	0.68271	.	.	ENSG00000101335	ENST00000279022;ENST00000346786	T;T	0.78595	-1.19;-1.01	4.7	4.7	0.59300	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.75339	0.3836	L	0.48642	1.525	0.30375	N	0.782556	P;B	0.36392	0.551;0.006	P;B	0.44394	0.448;0.004	T	0.71563	-0.4555	10	0.19590	T	0.45	.	13.3054	0.60349	1.0:0.0:0.0:0.0	.	76;130	Q9BUF9;P24844	.;MYL9_HUMAN	V	130;76	ENSP00000279022:M130V;ENSP00000217313:M76V	ENSP00000279022:M130V	M	+	1	0	MYL9	34610935	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.236000	0.95360	1.880000	0.54463	0.533000	0.62120	ATG		0.577	MYL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079015.2	0	NM_006097		20:35177521
GGCX	2677	broad.mit.edu	37	2	85779621	85779621	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:85779621G>A	ENST00000233838.4	-	10	1437	c.1357C>T	c.(1357-1359)Cgc>Tgc	p.R453C	GGCX_ENST00000430215.3_Missense_Mutation_p.R396C|GGCX_ENST00000473665.1_5'UTR	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	453					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	GGAAGCAGGCGGCTCAGGCAA	0.522											OREG0014747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000233838.4		NA																	0				endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15						c.(1357-1359)Cgc>Tgc		gamma-glutamyl carboxylase	Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)						137.0	129.0	132.0					2																	85779621		2203	4300	6503	SO:0001583	missense	2677				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity	g.chr2:85779621G>A		CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"""vitamin K-dependent gamma-carboxylase"""	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.1357C>T	2.37:g.85779621G>A	ENSP00000233838:p.Arg453Cys	False	False		Somatic	0	OREG0014747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1239	GGCX_ENST00000430215.3_Missense_Mutation_p.R396C|GGCX_ENST00000473665.1_5'UTR	p.R453C	NM_000821.5	NP_000812.2	WXS	Illumina HiSeq	Phase_I	P38435	VKGC_HUMAN			10	1437	-			NA					B4DMC5|E9PEE1|Q14415|Q6GU45	Missense_Mutation	SNP	ENST00000233838.4	37	c.1357C>T	CCDS1978.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.756141	0.69648	.	.	ENSG00000115486	ENST00000233838;ENST00000430215	D;D	0.92299	-3.01;-3.01	5.95	5.95	0.96441	.	0.567099	0.20201	N	0.097085	D	0.92120	0.7502	L	0.49778	1.585	0.34474	D	0.703168	D;P;D	0.61080	0.978;0.807;0.989	P;B;P	0.51453	0.606;0.417;0.67	D	0.94367	0.7592	10	0.54805	T	0.06	-1.5644	13.4692	0.61273	0.0:0.1567:0.8433:0.0	.	396;292;453	E9PEE1;B4DQW4;P38435	.;.;VKGC_HUMAN	C	453;396	ENSP00000233838:R453C;ENSP00000408045:R396C	ENSP00000233838:R453C	R	-	1	0	GGCX	85633132	0.988000	0.35896	0.998000	0.56505	0.996000	0.88848	1.939000	0.40213	2.824000	0.97209	0.655000	0.94253	CGC		0.522	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252490.3	0	NM_000821		2:85779621
