#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
BCRP2	400892	broad.mit.edu	37	22	21470438	21470444	+	lincRNA	DEL	AGGCATG	AGGCATG	-			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	AGGCATG	AGGCATG	-	-	AGGCATG	AGGCATG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr22:21470438_21470444delAGGCATG	ENST00000420508.1	-	0	3284_3290				BCRP2_ENST00000461808.1_RNA																							TCCATGGCCCAGGCATGTCACATCCTT	0.459																																						ENST00000420508.1		NA																	0					NA																																														0							g.chr22:21470438_21470444delAGGCATG																													22.37:g.21470438_21470444delAGGCATG		False	False		Somatic	1				BCRP2_ENST00000461808.1_RNA				WXS	Illumina HiSeq	Phase_I					0	3284_3290	-			NA						RNA	DEL	ENST00000420508.1	37																																																																																						0.459	KB-1592A4.15-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000320579.1	0			22:21470438
LCP2	3937	broad.mit.edu	37	5	169685144	169685145	+	In_Frame_Ins	INS	-	-	CAGGCAGATTGAGAAAGAAGGAAA			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr5:169685144_169685145insCAGGCAGATTGAGAAAGAAGGAAA	ENST00000046794.5	-	16	1611_1612	c.996_997insTTTCCTTCTTTCTCAATCTGCCTG	c.(994-999)ccagca>ccaTTTCCTTCTTTCTCAATCTGCCTGgca	p.332_333PA>PFPSFSICLA	LCP2_ENST00000521416.1_In_Frame_Ins_p.127_128PA>PFPSFSICLA	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	332					blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		GGAAGTAGTGCTGGCTGGGGCA	0.5																																						ENST00000046794.5		NA																	0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(994-999)ccagca>ccaTTTCCTTCTTTCTCAATCTGCCTGgca		lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)																																				SO:0001652	inframe_insertion	3937				immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding	g.chr5:169685144_169685145insCAGGCAGATTGAGAAAGAAGGAAA		CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"""SH2 domain containing"""	6529	protein-coding gene	gene with protein product	"""76 kDa tyrosine phosphoprotein"", ""SH2 domain-containing leukocyte protein of 76kD"""	601603	"""lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"""	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.996_997insTTTCCTTCTTTCTCAATCTGCCTG	5.37:g.169685144_169685145insCAGGCAGATTGAGAAAGAAGGAAA	ENSP00000046794:p.Pro332_Ala333insPheProSerPheSerIleCysLeu	True	False		Somatic	0				LCP2_ENST00000521416.1_In_Frame_Ins_p.127_128PA>PFPSFSICLA	p.332_333PA>PFPSFSICLA	NM_005565.3	NP_005556.1	WXS	Illumina HiSeq	Phase_I	Q13094	LCP2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)	16	1611_1612	-	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	332					A8KA25|Q53XV4	In_Frame_Ins	INS	ENST00000046794.5	37	c.996_997insTTTCCTTCTTTCTCAATCTGCCTG	CCDS47339.1																																																																																				0.500	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371727.1	0	NM_005565		5:169685144
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212|rs368069269	byFrequency	TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433																																						ENST00000379834.2		NA																	1	Substitution - Missense(1)	p.D57G(1)	large_intestine(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(190-192)gacdel		RIO kinase 1																																				SO:0001651	inframe_deletion	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7393450_7393452delGAC	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"""RIO kinase 1 (yeast)"""				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.190_192delGAC	6.37:g.7393450_7393452delGAC	ENSP00000369162:p.Asp69del	False	False		Somatic	1					p.D69del	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	WXS	Illumina HiSeq	Phase_I	Q9BRS2	RIOK1_HUMAN			2	697_699	+	Ovarian(93;0.0418)		69					B2RB28|Q8NDC8|Q96NV9	In_Frame_Del	DEL	ENST00000379834.2	37	c.190_192delGAC	CCDS4500.1																																																																																				0.433	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	0	NM_031480		6:7393450
CDKN2A	1029	broad.mit.edu	37	9	21974747	21974747	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr9:21974747delT	ENST00000304494.5	-	1	350	c.80delA	c.(79-81)gagfs	p.E27fs	CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.E27fs|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.E27fs|CDKN2A_ENST00000361570.3_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.E27fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	27					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.0(1)|p.R22fs*14(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CGCCCGCACCTCCTCTACCCG	0.741		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1340	Whole gene deletion(1316)|Unknown(23)|Deletion - Frameshift(1)	p.0?(1315)|p.?(23)|p.0(1)|p.R22fs*14(1)	haematopoietic_and_lymphoid_tissue(278)|skin(168)|central_nervous_system(163)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(50)|upper_aerodigestive_tract(47)|ovary(34)|kidney(31)|breast(30)|pancreas(29)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199						c.(79-81)gagfs		cyclin-dependent kinase inhibitor 2A							22.0	29.0	26.0					9																	21974747		1934	3927	5861	SO:0001589	frameshift_variant	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21974747delT	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.80delA	9.37:g.21974747delT	ENSP00000307101:p.Glu27fs	False	False	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)	Somatic	1				CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.E27fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.E27fs|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.E27fs|RP11-145E5.5_ENST00000404796.2_Intron	p.E27fs	NM_000077.4	NP_000068.1	WXS	Illumina HiSeq	Phase_I	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	350	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	27					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Del	DEL	ENST00000304494.5	37	c.80delA	CCDS6510.1																																																																																				0.741	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	0	NM_000077		9:21974747
RTKN2	219790	broad.mit.edu	37	10	64005797	64005797	+	Missense_Mutation	SNP	T	T	C			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr10:64005797T>C	ENST00000373789.3	-	3	373	c.277A>G	c.(277-279)Aaa>Gaa	p.K93E	RTKN2_ENST00000395265.1_Missense_Mutation_p.K93E|RTKN2_ENST00000395260.3_Missense_Mutation_p.K93E	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	93					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					GTTCGTTCTTTACTTTCAAAT	0.279																																						ENST00000373789.3		NA																	0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(277-279)Aaa>Gaa		rhotekin 2							96.0	97.0	96.0					10																	64005797		2202	4296	6498	SO:0001583	missense	219790				signal transduction	intracellular		g.chr10:64005797T>C	BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"""Pleckstrin homology (PH) domain containing"""	19364	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family K member 1"""	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.277A>G	10.37:g.64005797T>C	ENSP00000362894:p.Lys93Glu	True	False		Somatic	0				RTKN2_ENST00000395260.3_Missense_Mutation_p.K93E|RTKN2_ENST00000395265.1_Missense_Mutation_p.K93E	p.K93E	NM_145307.2	NP_660350.2	WXS	Illumina HiSeq	Phase_I	Q8IZC4	RTKN2_HUMAN			3	373	-	Prostate(12;0.0297)|all_hematologic(501;0.215)		93					Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Missense_Mutation	SNP	ENST00000373789.3	37	c.277A>G	CCDS7263.1	.	.	.	.	.	.	.	.	.	.	T	4.450	0.083293	0.08533	.	.	ENSG00000182010	ENST00000395265;ENST00000373789;ENST00000395260	T;T;T	0.41758	1.6;1.6;0.99	5.38	1.67	0.24075	.	0.457220	0.27932	N	0.017279	T	0.28333	0.0700	L	0.48362	1.52	0.19300	N	0.999979	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.002	T	0.20042	-1.0287	10	0.13853	T	0.58	-0.4111	5.9418	0.19198	0.0:0.1462:0.1373:0.7165	.	93;93	Q8IZC4-3;Q8IZC4	.;RTKN2_HUMAN	E	93	ENSP00000378682:K93E;ENSP00000362894:K93E;ENSP00000378678:K93E	ENSP00000362894:K93E	K	-	1	0	RTKN2	63675803	0.949000	0.32298	0.294000	0.24946	0.859000	0.49053	1.602000	0.36783	0.337000	0.23665	0.528000	0.53228	AAA		0.279	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	0	NM_145307		10:64005797
TRAPPC10	7109	broad.mit.edu	37	21	45478983	45478983	+	Splice_Site	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr21:45478983G>A	ENST00000291574.4	+	6	853		c.e6-1		TRAPPC10_ENST00000380221.3_Splice_Site	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10						sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						TGGGCGAATAGGAGGAGCTTG	0.448																																						ENST00000291574.4		NA																	0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						c.e6-1		trafficking protein particle complex 10							69.0	62.0	64.0					21																	45478983		2203	4300	6503	SO:0001630	splice_region_variant	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45478983G>A	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.679-1G>A	21.37:g.45478983G>A		False	False		Somatic	0				TRAPPC10_ENST00000380221.3_Splice_Site		NM_003274.4	NP_003265.3	WXS	Illumina HiSeq	Phase_I	P48553	TPC10_HUMAN			6	853	+			NA					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Splice_Site	SNP	ENST00000291574.4	37		CCDS13704.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763268	0.69763	.	.	ENSG00000160218	ENST00000380221;ENST00000291574	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8261	0.92119	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRAPPC10	44303411	1.000000	0.71417	0.995000	0.50966	0.579000	0.36224	9.523000	0.98034	2.443000	0.82685	0.561000	0.74099	.		0.448	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	0	NM_003274	Intron	21:45478983
REEP2	51308	broad.mit.edu	37	5	137777145	137777145	+	Silent	SNP	C	C	T			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr5:137777145C>T	ENST00000254901.5	+	3	299	c.177C>T	c.(175-177)ctC>ctT	p.L59L	REEP2_ENST00000464751.2_3'UTR|REEP2_ENST00000378339.2_Silent_p.L59L|REEP2_ENST00000506158.1_Silent_p.L21L	NM_016606.2	NP_057690.2	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	59					cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein transport into membrane raft (GO:0032596)|regulation of intracellular transport (GO:0032386)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ATATAGTGCTCTCCTGGTGAG	0.592																																						ENST00000378339.2		NA																	0				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12						c.(175-177)ctC>ctT		receptor accessory protein 2							120.0	96.0	104.0					5																	137777145		2203	4300	6503	SO:0001819	synonymous_variant	51308					integral to membrane		g.chr5:137777145C>T	AK056193	CCDS4205.1, CCDS64259.1	5q31	2014-03-12	2006-02-07	2006-02-07	ENSG00000132563	ENSG00000132563		"""Receptor accessory proteins"""	17975	protein-coding gene	gene with protein product		609347	"""chromosome 5 open reading frame 19"""	C5orf19		16271481, 15550249, 24388663	Standard	NM_016606		Approved	SGC32445, SPG72	uc003lda.4	Q9BRK0	OTTHUMG00000129205	ENST00000254901.5:c.177C>T	5.37:g.137777145C>T		False	False		Somatic	0				REEP2_ENST00000464751.2_3'UTR|REEP2_ENST00000506158.1_Silent_p.L21L|REEP2_ENST00000254901.5_Silent_p.L59L	p.L59L	NM_001271803.1	NP_001258732.1	WXS	Illumina HiSeq	Phase_I	Q9BRK0	REEP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		3	369	+			59					Q53EM8|Q9NYF2	Silent	SNP	ENST00000254901.5	37	c.177C>T	CCDS4205.1	.	.	.	.	.	.	.	.	.	.	C	9.842	1.191368	0.21954	.	.	ENSG00000132563	ENST00000512126	.	.	.	4.01	-4.81	0.03180	.	.	.	.	.	T	0.50769	0.1635	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52426	-0.8577	4	.	.	.	-4.1558	8.4986	0.33144	0.0:0.2491:0.5241:0.2268	.	.	.	.	F	97	.	.	S	+	2	0	REEP2	137805044	0.915000	0.31059	0.934000	0.37439	0.986000	0.74619	-0.207000	0.09384	-0.560000	0.06102	0.455000	0.32223	TCT		0.592	REEP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251284.1	0	NM_016606		5:137777145
PCDHB2	56133	broad.mit.edu	37	5	140475695	140475695	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr5:140475695G>A	ENST00000194155.4	+	1	1469	c.1321G>A	c.(1321-1323)Gtg>Atg	p.V441M		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	441	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAACATAACCGTGCTGGTCTC	0.602																																						ENST00000194155.4		NA																	0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(1321-1323)Gtg>Atg									151.0	140.0	144.0					5																	140475695		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475695G>A	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1321G>A	5.37:g.140475695G>A	ENSP00000194155:p.Val441Met	False	False		Somatic	0					p.V441M	NM_018936.2	NP_061759.1	WXS	Illumina HiSeq	Phase_I	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1469	+			441			Cadherin 4.		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.1321G>A	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	G	8.616	0.890258	0.17613	.	.	ENSG00000112852	ENST00000194155	T	0.72725	-0.68	5.11	0.835	0.18886	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.85695	0.5756	H	0.98754	4.32	0.09310	N	1	D	0.71674	0.998	P	0.58660	0.843	T	0.73990	-0.3808	9	0.62326	D	0.03	.	3.5112	0.07709	0.1501:0.2337:0.4965:0.1196	.	441	Q9Y5E7	PCDB2_HUMAN	M	441	ENSP00000194155:V441M	ENSP00000194155:V441M	V	+	1	0	PCDHB2	140455879	0.000000	0.05858	0.001000	0.08648	0.045000	0.14185	-0.396000	0.07278	0.173000	0.19788	0.650000	0.86243	GTG		0.602	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	0	NM_018936		5:140475695
KIF4A	24137	broad.mit.edu	37	X	69615826	69615826	+	Missense_Mutation	SNP	C	C	T	rs200516198		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chrX:69615826C>T	ENST00000374403.3	+	22	2498	c.2416C>T	c.(2416-2418)Cgt>Tgt	p.R806C	KIF4A_ENST00000374388.3_Missense_Mutation_p.R806C|RNY4P23_ENST00000364507.1_RNA	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	806	Interaction with PRC1.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TACTGAAGTGCGTGGTCAAGT	0.398													C|||	1	0.000264901	0.0	0.0	3775	,	,		13713	0.0		0.001	False		,,,				2504	0.0					ENST00000374403.3		NA																	0				breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(2416-2418)Cgt>Tgt		kinesin family member 4A							73.0	63.0	67.0					X																	69615826		2203	4300	6503	SO:0001583	missense	24137				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chrX:69615826C>T	AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.2416C>T	X.37:g.69615826C>T	ENSP00000363524:p.Arg806Cys	False	False		Somatic	0				KIF4A_ENST00000374388.3_Missense_Mutation_p.R806C	p.R806C	NM_012310.4	NP_036442.3	WXS	Illumina HiSeq	Phase_I	O95239	KIF4A_HUMAN			22	2498	+			806			Interaction with PRC1.		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	ENST00000374403.3	37	c.2416C>T	CCDS14401.1	1	6.027727546714888E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	6.236	0.411750	0.11812	.	.	ENSG00000090889	ENST00000374388;ENST00000374403;ENST00000544650	T;T	0.69806	-0.43;-0.37	4.78	3.92	0.45320	.	0.641178	0.13965	N	0.350586	T	0.35682	0.0940	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20706	-1.0267	9	.	.	.	.	7.9061	0.29763	0.0:0.886:0.0:0.114	.	806	O95239	KIF4A_HUMAN	C	806;806;108	ENSP00000363509:R806C;ENSP00000363524:R806C	.	R	+	1	0	KIF4A	69532551	0.999000	0.42202	0.001000	0.08648	0.223000	0.24884	3.801000	0.55545	1.133000	0.42147	0.594000	0.82650	CGT		0.398	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	0	NM_012310		X:69615826
ST8SIA5	29906	broad.mit.edu	37	18	44268880	44268880	+	Missense_Mutation	SNP	G	G	C	rs151163620		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr18:44268880G>C	ENST00000315087.7	-	4	974	c.314C>G	c.(313-315)tCt>tGt	p.S105C	ST8SIA5_ENST00000538168.1_Missense_Mutation_p.S141C|ST8SIA5_ENST00000590497.1_Intron|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.S74C	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	105					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						GGACAGAGTAGACCTGCCAGG	0.587																																						ENST00000315087.7		NA																	0				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						c.(313-315)tCt>tGt		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5							94.0	81.0	85.0					18																	44268880		2203	4300	6503	SO:0001583	missense	29906				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane		g.chr18:44268880G>C	U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"""Sialyltransferases"""	17827	protein-coding gene	gene with protein product	"""ST8Sia V"""	607162	"""sialyltransferase 8E (alpha-2, 8-polysialytransferase)"""	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.314C>G	18.37:g.44268880G>C	ENSP00000321343:p.Ser105Cys	False	False		Somatic	0				ST8SIA5_ENST00000536490.1_Missense_Mutation_p.S74C|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.S141C|ST8SIA5_ENST00000590497.1_Intron	p.S105C	NM_013305.4	NP_037437.2	WXS	Illumina HiSeq	Phase_I	O15466	SIA8E_HUMAN			4	974	-			105					B7Z1K9|Q6IAW7	Missense_Mutation	SNP	ENST00000315087.7	37	c.314C>G	CCDS11930.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120457	0.77323	.	.	ENSG00000101638	ENST00000315087;ENST00000538168;ENST00000536490	T;T;T	0.48201	0.83;0.82;1.44	5.48	5.48	0.80851	.	0.108387	0.64402	D	0.000004	T	0.53867	0.1823	L	0.43152	1.355	0.50313	D	0.999867	P;P;P	0.52577	0.797;0.954;0.832	P;P;P	0.50440	0.641;0.57;0.625	T	0.56306	-0.8001	10	0.66056	D	0.02	.	19.345	0.94359	0.0:0.0:1.0:0.0	.	74;141;105	F5H8D1;B7Z1K9;O15466	.;.;SIA8E_HUMAN	C	105;141;74	ENSP00000321343:S105C;ENSP00000445492:S141C;ENSP00000443683:S74C	ENSP00000321343:S105C	S	-	2	0	ST8SIA5	42522878	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.746000	0.74866	2.578000	0.87016	0.555000	0.69702	TCT		0.587	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	0	NM_013305		18:44268880
C9orf24	84688	broad.mit.edu	37	9	34381395	34381395	+	Silent	SNP	A	A	T			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr9:34381395A>T	ENST00000297623.2	-	4	642	c.444T>A	c.(442-444)ccT>ccA	p.P148P	C9orf24_ENST00000379127.1_Silent_p.P13P|C9orf24_ENST00000379124.1_Silent_p.P13P|C9orf24_ENST00000379133.3_Silent_p.P13P|C9orf24_ENST00000481295.1_5'Flank|C9orf24_ENST00000379126.3_Silent_p.P13P	NM_032596.3	NP_115985.2	Q8NCR6	SMRP1_HUMAN	chromosome 9 open reading frame 24	148					cell differentiation (GO:0030154)|cellular protein complex assembly (GO:0043623)|spermatogenesis (GO:0007283)	manchette (GO:0002177)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		CCGGCCTAGGAGGGCATTCCA	0.617																																						ENST00000297623.2		NA																	0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5						c.(442-444)ccT>ccA		chromosome 9 open reading frame 24							152.0	129.0	137.0					9																	34381395		2203	4300	6503	SO:0001819	synonymous_variant	84688							g.chr9:34381395A>T	BC029484	CCDS6553.1, CCDS6554.1, CCDS6555.1, CCDS59121.1	9p11.2	2013-01-11			ENSG00000164972	ENSG00000164972			19919	protein-coding gene	gene with protein product	"""ciliated bronchial epithelium 1"", ""spermatid-specific manchette-related protein 1"""					12029067	Standard	NM_147168		Approved	bA573M23.4, NYD-SP22, MGC32921, MGC33614, CBE1, SMRP1	uc003zuh.1	Q8NCR6	OTTHUMG00000000437	ENST00000297623.2:c.444T>A	9.37:g.34381395A>T		True	False		Somatic	0				C9orf24_ENST00000379133.3_Silent_p.P13P|C9orf24_ENST00000379126.3_Silent_p.P13P|C9orf24_ENST00000379124.1_Silent_p.P13P|C9orf24_ENST00000379127.1_Silent_p.P13P	p.P148P	NM_032596.3	NP_115985.2	WXS	Illumina HiSeq	Phase_I	Q8NCR6	CI024_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)	4	642	-			148					Q5T598|Q5T599|Q5T5A0|Q8N9G4|Q96KD1|Q96LN1	Silent	SNP	ENST00000297623.2	37	c.444T>A	CCDS6554.1																																																																																				0.617	C9orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001098.3	0	NM_147169		9:34381395
COL1A1	1277	broad.mit.edu	37	17	48273541	48273541	+	Missense_Mutation	SNP	C	C	T	rs72645356		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr17:48273541C>T	ENST00000225964.5	-	15	1095	c.977G>A	c.(976-978)gGt>gAt	p.G326D		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	326	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	ACCAGTAGCACCATCATTTCC	0.632			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															ENST00000225964.5		NA		Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	"""PDGFB, USP6"""		"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """	COL1A1/PDGFB(429)	0				NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71	GRCh37	CM070721	COL1A1	M	rs72645356	c.(976-978)gGt>gAt		collagen, type I, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						39.0	41.0	40.0					17																	48273541		2203	4300	6503	SO:0001583	missense	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48273541C>T	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.977G>A	17.37:g.48273541C>T	ENSP00000225964:p.Gly326Asp	False	False		Somatic	0					p.G326D	NM_000088.3	NP_000079	WXS	Illumina HiSeq	Phase_I	P02452	CO1A1_HUMAN			15	1095	-			326			Triple-helical region.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	37	c.977G>A	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.334954	0.81801	.	.	ENSG00000108821	ENST00000225964	D	0.99619	-6.28	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	H	0.99130	4.44	0.80722	D	1	D	0.76494	0.999	D	0.97110	1.0	D	0.96436	0.9323	10	0.87932	D	0	.	17.3045	0.87191	0.0:1.0:0.0:0.0	.	326	P02452	CO1A1_HUMAN	D	326	ENSP00000225964:G326D	ENSP00000225964:G326D	G	-	2	0	COL1A1	45628540	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.737000	0.84957	2.382000	0.81193	0.650000	0.86243	GGT		0.632	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2	0			17:48273541
MTCL1	23255	broad.mit.edu	37	18	8784265	8784265	+	Silent	SNP	C	C	T	rs139433913		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr18:8784265C>T	ENST00000306329.11	+	5	2235	c.2235C>T	c.(2233-2235)agC>agT	p.S745S	SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Silent_p.S385S|SOGA2_ENST00000359865.3_Silent_p.S385S|SOGA2_ENST00000517570.1_Silent_p.S385S																							CCCGGGACAGCGATGCCGAGA	0.677													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16070	0.0		0.0	False		,,,				2504	0.0					ENST00000359865.3		NA																	0					NA						c.(1153-1155)agC>agT		SOGA family member 2		C		0,4402		0,0,2201	38.0	43.0	41.0		1155	-5.3	0.5	18	dbSNP_134	41	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	CCDC165	NM_015210.3		0,1,6499	TT,TC,CC		0.0116,0.0,0.0077		385/1587	8784265	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	23255							g.chr18:8784265C>T																												ENST00000306329.11:c.2235C>T	18.37:g.8784265C>T		False	False		Somatic	0				SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Silent_p.S385S|SOGA2_ENST00000517570.1_Silent_p.S385S|SOGA2_ENST00000306329.11_Silent_p.S745S	p.S385S	NM_015210.3	NP_056025.2	WXS	Illumina HiSeq	Phase_I	Q9Y4B5	CC165_HUMAN			6	1297	+			736						Silent	SNP	ENST00000306329.11	37	c.1155C>T																																																																																					0.677	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1	0			18:8784265
ROBO3	64221	broad.mit.edu	37	11	124743218	124743218	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr11:124743218G>A	ENST00000397801.1	+	10	1741	c.1549G>A	c.(1549-1551)Ggc>Agc	p.G517S	ROBO3_ENST00000538940.1_Missense_Mutation_p.G495S	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	517	Ig-like C2-type 5.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GATGGACATGGGCTTCTACAG	0.542																																						ENST00000397801.1		NA																	0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(1549-1551)Ggc>Agc		roundabout, axon guidance receptor, homolog 3 (Drosophila)							56.0	62.0	60.0					11																	124743218		1969	4154	6123	SO:0001583	missense	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124743218G>A	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.1549G>A	11.37:g.124743218G>A	ENSP00000380903:p.Gly517Ser	True	False		Somatic	0				ROBO3_ENST00000538940.1_Missense_Mutation_p.G495S	p.G517S	NM_022370.3	NP_071765.2	WXS	Illumina HiSeq	Phase_I	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	10	1741	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	517			Ig-like C2-type 5.			Missense_Mutation	SNP	ENST00000397801.1	37	c.1549G>A	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186181	0.78789	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.60171	0.21;0.21	4.89	4.89	0.63831	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.197564	0.25478	N	0.030400	D	0.84696	0.5529	H	0.97465	4.01	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90158	0.4226	10	0.87932	D	0	.	16.9991	0.86377	0.0:0.0:1.0:0.0	.	517	Q96MS0	ROBO3_HUMAN	S	517;495	ENSP00000380903:G517S;ENSP00000441797:G495S	ENSP00000380903:G517S	G	+	1	0	ROBO3	124248428	1.000000	0.71417	0.107000	0.21349	0.762000	0.43233	8.485000	0.90448	2.548000	0.85928	0.455000	0.32223	GGC		0.542	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	0	XM_370663		11:124743218
ABHD8	79575	broad.mit.edu	37	19	17412369	17412369	+	Silent	SNP	G	G	A	rs546146109		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr19:17412369G>A	ENST00000247706.3	-	2	296	c.57C>T	c.(55-57)aaC>aaT	p.N19N	MRPL34_ENST00000594999.1_5'Flank|MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	19							hydrolase activity (GO:0016787)	p.N19N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						GCCCCACGGCGTTGGGGGGCG	0.652													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15365	0.0		0.0	False		,,,				2504	0.0				Ovarian(156;1368 2543 15275 41187)	ENST00000247706.3		NA																	1	Substitution - coding silent(1)	p.N19N(1)	endometrium(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						c.(55-57)aaC>aaT		abhydrolase domain containing 8							24.0	26.0	25.0					19																	17412369		2175	4219	6394	SO:0001819	synonymous_variant	79575						hydrolase activity	g.chr19:17412369G>A	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"""Abhydrolase domain containing"""	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.57C>T	19.37:g.17412369G>A		False	False		Somatic	0				MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	p.N19N	NM_024527.4	NP_078803.4	WXS	Illumina HiSeq	Phase_I	Q96I13	ABHD8_HUMAN			2	296	-			19					Q9HAE9	Silent	SNP	ENST00000247706.3	37	c.57C>T	CCDS12355.1																																																																																				0.652	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	0	NM_024527		19:17412369
TRPM3	80036	broad.mit.edu	37	9	73151305	73151305	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr9:73151305G>A	ENST00000377110.3	-	25	4931	c.4688C>T	c.(4687-4689)gCg>gTg	p.A1563V	TRPM3_ENST00000377105.1_Missense_Mutation_p.A1422V|TRPM3_ENST00000358082.3_Missense_Mutation_p.A1425V|TRPM3_ENST00000396292.4_Missense_Mutation_p.A1435V|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396280.5_Missense_Mutation_p.A1412V|TRPM3_ENST00000408909.2_Missense_Mutation_p.A1422V|TRPM3_ENST00000357533.2_Missense_Mutation_p.A1567V|TRPM3_ENST00000377106.1_Missense_Mutation_p.A1435V|TRPM3_ENST00000396285.1_Missense_Mutation_p.A1422V|TRPM3_ENST00000423814.3_Missense_Mutation_p.A1590V|TRPM3_ENST00000360823.2_Missense_Mutation_p.A1425V			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1588					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AGCTCTGTCCGCAATTGCTTG	0.493																																						ENST00000377110.3		NA																	0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(4687-4689)gCg>gTg		transient receptor potential cation channel, subfamily M, member 3							97.0	90.0	92.0					9																	73151305		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73151305G>A	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377110.3:c.4688C>T	9.37:g.73151305G>A	ENSP00000366314:p.Ala1563Val	False	False		Somatic	0				TRPM3_ENST00000377106.1_Missense_Mutation_p.A1435V|TRPM3_ENST00000357533.2_Missense_Mutation_p.A1567V|TRPM3_ENST00000377105.1_Missense_Mutation_p.A1422V|TRPM3_ENST00000396285.1_Missense_Mutation_p.A1422V|TRPM3_ENST00000423814.3_Missense_Mutation_p.A1590V|TRPM3_ENST00000360823.2_Missense_Mutation_p.A1425V|TRPM3_ENST00000396292.4_Missense_Mutation_p.A1435V|TRPM3_ENST00000358082.3_Missense_Mutation_p.A1425V|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396280.5_Missense_Mutation_p.A1412V|TRPM3_ENST00000408909.2_Missense_Mutation_p.A1422V	p.A1563V			WXS	Illumina HiSeq	Phase_I	Q9HCF6	TRPM3_HUMAN			25	4931	-			NA					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377110.3	37	c.4688C>T	CCDS43835.1	.	.	.	.	.	.	.	.	.	.	G	6.617	0.482296	0.12581	.	.	ENSG00000083067	ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	T;T;T;T;T;T;T;T;T;T	0.56275	0.56;0.5;0.5;0.47;0.57;0.47;0.51;0.5;0.5;0.56	5.87	4.97	0.65823	.	0.180840	0.47093	D	0.000241	T	0.29158	0.0725	N	0.11560	0.145	0.19775	N	0.99995	B;B;B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.04013	0.001;0.001;0.0;0.0;0.001;0.001;0.0	T	0.10590	-1.0623	10	0.12766	T	0.61	-8.7036	10.1358	0.42706	0.0704:0.0:0.7916:0.138	.	1563;1553;1567;1425;1422;1535;1422	Q9HCF6-2;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.;.;.;.;.;.;.	V	1563;1435;1425;1422;1567;1422;1422;1435;1425;1590	ENSP00000366314:A1563V;ENSP00000366310:A1435V;ENSP00000354066:A1425V;ENSP00000366309:A1422V;ENSP00000350140:A1567V;ENSP00000386127:A1422V;ENSP00000379581:A1422V;ENSP00000379587:A1435V;ENSP00000350791:A1425V;ENSP00000389542:A1590V	ENSP00000350140:A1567V	A	-	2	0	TRPM3	72341125	0.994000	0.37717	0.071000	0.20095	0.751000	0.42716	4.224000	0.58593	2.785000	0.95823	0.655000	0.94253	GCG		0.493	TRPM3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214158.3	0	NM_206945		9:73151305
SRPX2	27286	broad.mit.edu	37	X	99925874	99925874	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chrX:99925874C>T	ENST00000373004.3	+	11	1716	c.1288C>T	c.(1288-1290)Cgc>Tgc	p.R430C	RP11-524D16__A.3_ENST00000568809.1_RNA	NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	430					angiogenesis (GO:0001525)|cell motility (GO:0048870)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of synapse assembly (GO:0051965)|regulation of phosphorylation (GO:0042325)|single organismal cell-cell adhesion (GO:0016337)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|excitatory synapse (GO:0060076)|extracellular space (GO:0005615)|synaptic membrane (GO:0097060)	hepatocyte growth factor binding (GO:0036458)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						TGACCGAGACCGCTACATGGA	0.512											OREG0019890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373004.3		NA																	0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(1288-1290)Cgc>Tgc		sushi-repeat containing protein, X-linked 2							164.0	126.0	138.0					X																	99925874		2203	4300	6503	SO:0001583	missense	27286				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding	g.chrX:99925874C>T	AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359			30668	protein-coding gene	gene with protein product		300642	"""sushi-repeat-containing protein, X-linked 2"""			9864177	Standard	NM_014467		Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.1288C>T	X.37:g.99925874C>T	ENSP00000362095:p.Arg430Cys	False	False		Somatic	0	OREG0019890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1347		p.R430C	NM_014467.2	NP_055282.1	WXS	Illumina HiSeq	Phase_I	O60687	SRPX2_HUMAN			11	1716	+			430					B3KQT3|Q8WW85	Missense_Mutation	SNP	ENST00000373004.3	37	c.1288C>T	CCDS14471.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590739	0.86851	.	.	ENSG00000102359	ENST00000373004	T	0.54071	0.59	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.74419	0.3714	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76756	-0.2842	9	.	.	.	-14.007	17.6638	0.88198	0.0:1.0:0.0:0.0	.	430	O60687	SRPX2_HUMAN	C	430	ENSP00000362095:R430C	.	R	+	1	0	SRPX2	99812530	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	5.063000	0.64332	2.357000	0.79964	0.523000	0.50628	CGC		0.512	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057486.1	0	NM_014467		X:99925874
SIGLEC7	27036	broad.mit.edu	37	19	51647799	51647799	+	Silent	SNP	C	C	G			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr19:51647799C>G	ENST00000317643.6	+	2	639	c.570C>G	c.(568-570)tcC>tcG	p.S190S	SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	190	Ig-like C2-type 1.				cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CCTCTGTGTCCCCCCTGCACC	0.662																																						ENST00000317643.6		NA																	0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29						c.(568-570)tcC>tcG		sialic acid binding Ig-like lectin 7							87.0	86.0	87.0					19																	51647799		2203	4300	6503	SO:0001819	synonymous_variant	27036				cell adhesion	integral to plasma membrane	receptor activity|sugar binding	g.chr19:51647799C>G	AF170485	CCDS12826.1, CCDS42601.1, CCDS62771.1	19q13.41	2014-03-20			ENSG00000168995	ENSG00000168995		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10876	protein-coding gene	gene with protein product		604410	"""sialic acid binding Ig-like lectin 19, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 2"""	SIGLEC19P, SIGLECP2		10567377	Standard	NM_001277201		Approved	SIGLEC-7, p75/AIRM1, QA79, CD328	uc002pvv.1	Q9Y286	OTTHUMG00000182895	ENST00000317643.6:c.570C>G	19.37:g.51647799C>G		True	False		Somatic	0				SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Intron	p.S190S	NM_014385.2	NP_055200.1	WXS	Illumina HiSeq	Phase_I	Q9Y286	SIGL7_HUMAN		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)	2	639	+		all_neural(266;0.0199)	190			Ig-like C2-type 1.		Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Silent	SNP	ENST00000317643.6	37	c.570C>G	CCDS12826.1																																																																																				0.662	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464226.2	0	NM_016543		19:51647799
PCDHAC2	56134	broad.mit.edu	37	5	140347507	140347507	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr5:140347507G>A	ENST00000289269.5	+	1	1688	c.1156G>A	c.(1156-1158)Gtt>Att	p.V386I	PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	386	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTGTGGCCGTTCTCAGTGT	0.557																																					Melanoma(190;638 2083 3390 11909 52360)	ENST00000289269.5		NA																	0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1156-1158)Gtt>Att									87.0	77.0	80.0					5																	140347507		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140347507G>A	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.1156G>A	5.37:g.140347507G>A	ENSP00000289269:p.Val386Ile	False	False		Somatic	0				PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron	p.V386I	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	WXS	Illumina HiSeq	Phase_I	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1688	+			386			Cadherin 4.		Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	ENST00000289269.5	37	c.1156G>A	CCDS4242.1	.	.	.	.	.	.	.	.	.	.	G	9.217	1.032404	0.19590	.	.	ENSG00000243232	ENST00000289269	T	0.52526	0.66	5.61	0.00759	0.14071	Cadherin (3);Cadherin-like (1);	0.648092	0.12765	N	0.441059	T	0.26557	0.0649	N	0.17922	0.545	0.09310	N	0.999999	P;B	0.38370	0.628;0.004	B;B	0.31686	0.134;0.003	T	0.10314	-1.0635	10	0.66056	D	0.02	.	7.6778	0.28497	0.0:0.4911:0.2225:0.2864	.	386;386	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	I	386	ENSP00000289269:V386I	ENSP00000289269:V386I	V	+	1	0	PCDHAC2	140327691	0.000000	0.05858	0.895000	0.35142	0.830000	0.47004	-0.096000	0.11059	0.046000	0.15833	-0.165000	0.13383	GTT		0.557	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	0	NM_018899		5:140347507
PIK3C2A	5286	broad.mit.edu	37	11	17156533	17156533	+	Silent	SNP	T	T	C	rs377262754	byFrequency	TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr11:17156533T>C	ENST00000265970.7	-	10	1940	c.1941A>G	c.(1939-1941)caA>caG	p.Q647Q	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Silent_p.Q267Q	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	647					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						CTGCAGTTAATTGGTTTATGC	0.373													T|||	10	0.00199681	0.0	0.0	5008	,	,		18418	0.0		0.0	False		,,,				2504	0.0102					ENST00000265970.7		NA																	0				central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1939-1941)caA>caG		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	Phosphatidylserine(DB00144)						124.0	123.0	123.0					11																	17156533		2200	4293	6493	SO:0001819	synonymous_variant	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17156533T>C	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.1941A>G	11.37:g.17156533T>C		False	False		Somatic	0				PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Silent_p.Q267Q	p.Q647Q	NM_002645.2	NP_002636.2	WXS	Illumina HiSeq	Phase_I	O00443	P3C2A_HUMAN			10	1940	-			647					B0LPH2|B4E2G4|Q14CQ9	Silent	SNP	ENST00000265970.7	37	c.1941A>G	CCDS7824.1																																																																																				0.373	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	0	NM_002645		11:17156533
IPO5	3843	broad.mit.edu	37	13	98671972	98671972	+	Missense_Mutation	SNP	G	G	T			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr13:98671972G>T	ENST00000490680.1	+	24	3039	c.2974G>T	c.(2974-2976)Gtc>Ttc	p.V992F	IPO5_ENST00000261574.5_Missense_Mutation_p.V1010F|IPO5_ENST00000539640.1_Missense_Mutation_p.V867F			O00410	IPO5_HUMAN	importin 5	992					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						CGTTGAAGAGGTCCTTCCACA	0.413																																						ENST00000261574.5		NA																	0				breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						c.(3028-3030)Gtc>Ttc		importin 5							149.0	135.0	140.0					13																	98671972		2203	4300	6503	SO:0001583	missense	3843				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	g.chr13:98671972G>T	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.2974G>T	13.37:g.98671972G>T	ENSP00000418393:p.Val992Phe	False	False		Somatic	0				IPO5_ENST00000490680.1_Missense_Mutation_p.V992F|IPO5_ENST00000539640.1_Missense_Mutation_p.V867F	p.V1010F	NM_002271.4	NP_002262.3	WXS	Illumina HiSeq	Phase_I	O00410	IPO5_HUMAN			27	3208	+			992					B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37	c.3028G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.24|13.24	2.176764|2.176764	0.38413|0.38413	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000469360|ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640	.|T;T;T;T	.|0.16073	.|2.39;2.39;2.39;2.37	5.95|5.95	1.82|1.82	0.25136|0.25136	.|.	.|0.289846	.|0.38959	.|N	.|0.001514	T|T	0.29321|0.29321	0.0730|0.0730	M|M	0.80616|0.80616	2.505|2.505	0.58432|0.58432	D|D	0.999997|0.999997	.|P	.|0.36048	.|0.534	.|B	.|0.43916	.|0.436	T|T	0.17349|0.17349	-1.0372|-1.0372	5|10	.|0.87932	.|D	.|0	-19.4383|-19.4383	11.6613|11.6613	0.51347|0.51347	0.2788:0.0:0.7212:0.0|0.2788:0.0:0.7212:0.0	.|.	.|1010	.|O00410-3	.|.	S|F	993|1010;992;992;867	.|ENSP00000261574:V1010F;ENSP00000350219:V992F;ENSP00000418393:V992F;ENSP00000445126:V867F	.|ENSP00000261574:V1010F	R|V	+|+	3|1	2|0	IPO5|IPO5	97469973|97469973	1.000000|1.000000	0.71417|0.71417	0.015000|0.015000	0.15790|0.15790	0.547000|0.547000	0.35210|0.35210	2.700000|2.700000	0.47085|0.47085	0.426000|0.426000	0.26116|0.26116	-0.145000|-0.145000	0.13849|0.13849	AGG|GTC		0.413	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	0	NM_002271		13:98671972
FAT3	120114	broad.mit.edu	37	11	92577822	92577822	+	Silent	SNP	G	G	A	rs373765265		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr11:92577822G>A	ENST00000298047.6	+	18	11306	c.11289G>A	c.(11287-11289)gcG>gcA	p.A3763A	FAT3_ENST00000525166.1_Silent_p.A3613A|FAT3_ENST00000533797.1_Silent_p.A98A|FAT3_ENST00000409404.2_Silent_p.A3763A			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3763					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTCCCACGCGCTCATGACCT	0.532										TCGA Ovarian(4;0.039)																												ENST00000298047.6		NA																	0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(11287-11289)gcG>gcA		FAT atypical cadherin 3							98.0	98.0	98.0					11																	92577822		2145	4242	6387	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92577822G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11289G>A	11.37:g.92577822G>A		False	False	TCGA Ovarian(4;0.039)	Somatic	0				FAT3_ENST00000525166.1_Silent_p.A3613A|FAT3_ENST00000533797.1_Silent_p.A98A|FAT3_ENST00000409404.2_Silent_p.A3763A	p.A3763A			WXS	Illumina HiSeq	Phase_I	Q8TDW7	FAT3_HUMAN			18	11306	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3763					B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.11289G>A																																																																																					0.532	FAT3-201	KNOWN	basic	protein_coding	protein_coding		0	NM_001008781		11:92577822
FGGY	55277	broad.mit.edu	37	1	60106978	60106978	+	Intron	SNP	G	G	A	rs201842494		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr1:60106978G>A	ENST00000303721.7	+	11	1395				FGGY_ENST00000474476.1_Intron|FGGY_ENST00000371212.1_Intron|FGGY_ENST00000371218.4_Silent_p.P416P|FGGY_ENST00000371210.1_Intron	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing						carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TGTATATTCCGGCTTTGGCAG	0.368													G|||	1	0.000199681	0.0	0.0	5008	,	,		17801	0.001		0.0	False		,,,				2504	0.0					ENST00000371218.4		NA																	0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1246-1248)ccG>ccA		FGGY carbohydrate kinase domain containing							93.0	88.0	90.0					1																	60106978		1560	3582	5142	SO:0001627	intron_variant	55277				carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:60106978G>A		CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.1221+2931G>A	1.37:g.60106978G>A		False	False		Somatic	0				FGGY_ENST00000371212.1_Intron|FGGY_ENST00000474476.1_Intron|FGGY_ENST00000371210.1_Intron|FGGY_ENST00000303721.7_Intron	p.P416P	NM_001113411.1	NP_001106882.1	WXS	Illumina HiSeq	Phase_I	Q96C11	FGGY_HUMAN			12	1432	+	all_cancers(7;7.36e-05)		407					B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Silent	SNP	ENST00000303721.7	37	c.1248G>A	CCDS611.2																																																																																				0.368	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	0	NM_001113411		1:60106978
RASGEF1C	255426	broad.mit.edu	37	5	179548100	179548100	+	Missense_Mutation	SNP	A	A	C			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr5:179548100A>C	ENST00000393371.2	-	6	1060	c.764T>G	c.(763-765)tTc>tGc	p.F255C	RASGEF1C_ENST00000361132.4_Missense_Mutation_p.F255C|RASGEF1C_ENST00000522500.1_Missense_Mutation_p.F104C|RASGEF1C_ENST00000519883.1_5'UTR			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	255	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGCCTGTTGAACCATTTCAC	0.557																																						ENST00000393371.2		NA																	0				breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12						c.(763-765)tTc>tGc		RasGEF domain family, member 1C							157.0	143.0	147.0					5																	179548100		2203	4300	6503	SO:0001583	missense	255426				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity	g.chr5:179548100A>C	AK093160	CCDS4452.1	5q35.3	2005-08-16			ENSG00000146090	ENSG00000146090			27400	protein-coding gene	gene with protein product						12477932	Standard	XM_006714839		Approved	FLJ35841	uc003mlr.3	Q8N431	OTTHUMG00000130914	ENST00000393371.2:c.764T>G	5.37:g.179548100A>C	ENSP00000377037:p.Phe255Cys	False	False		Somatic	0				RASGEF1C_ENST00000361132.4_Missense_Mutation_p.F255C|RASGEF1C_ENST00000522500.1_Missense_Mutation_p.F104C|RASGEF1C_ENST00000519883.1_5'UTR	p.F255C			WXS	Illumina HiSeq	Phase_I	Q8N431	RGF1C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	1060	-	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	255			Ras-GEF.		D3DWQ7|Q7Z4T0|Q8NA49	Missense_Mutation	SNP	ENST00000393371.2	37	c.764T>G	CCDS4452.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.934399	0.52866	.	.	ENSG00000146090	ENST00000361132;ENST00000393371;ENST00000522500	T;T;T	0.39787	1.06;1.06;1.06	3.64	3.64	0.41730	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.059111	0.64402	D	0.000002	T	0.62575	0.2439	M	0.78223	2.4	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.67745	-0.5591	10	0.87932	D	0	.	11.5493	0.50711	1.0:0.0:0.0:0.0	.	255	Q8N431	RGF1C_HUMAN	C	255;255;104	ENSP00000354963:F255C;ENSP00000377037:F255C;ENSP00000429114:F104C	ENSP00000354963:F255C	F	-	2	0	RASGEF1C	179480706	1.000000	0.71417	1.000000	0.80357	0.430000	0.31655	5.407000	0.66363	1.677000	0.50941	0.254000	0.18369	TTC		0.557	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253506.2	0	NM_175062		5:179548100
FAM49A	81553	broad.mit.edu	37	2	16745312	16745312	+	Silent	SNP	C	C	T	rs570137045	byFrequency	TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr2:16745312C>T	ENST00000381323.3	-	5	463	c.243G>A	c.(241-243)gcG>gcA	p.A81A	FAM49A_ENST00000355549.2_Silent_p.A81A|FAM49A_ENST00000406434.1_Silent_p.A81A	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	81						intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			GAGGGCACACCGCATTCCAAG	0.408													C|||	2	0.000399361	0.0	0.0	5008	,	,		20092	0.0		0.0	False		,,,				2504	0.002					ENST00000381323.3		NA																	0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23						c.(241-243)gcG>gcA		family with sequence similarity 49, member A							127.0	118.0	121.0					2																	16745312		2203	4300	6503	SO:0001819	synonymous_variant	81553					intracellular		g.chr2:16745312C>T	AK001942	CCDS1688.1	2p24.3	2008-02-05			ENSG00000197872	ENSG00000197872			25373	protein-coding gene	gene with protein product							Standard	NM_030797		Approved	DKFZP566A1524, FLJ11080	uc002rck.2	Q9H0Q0	OTTHUMG00000090615	ENST00000381323.3:c.243G>A	2.37:g.16745312C>T		False	False		Somatic	0				FAM49A_ENST00000355549.2_Silent_p.A81A|FAM49A_ENST00000406434.1_Silent_p.A81A	p.A81A	NM_030797.3	NP_110424.1	WXS	Illumina HiSeq	Phase_I	Q9H0Q0	FA49A_HUMAN	GBM - Glioblastoma multiforme(3;0.00969)		5	463	-	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		81					B3KNZ1|Q53QW2	Silent	SNP	ENST00000381323.3	37	c.243G>A	CCDS1688.1																																																																																				0.408	FAM49A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207203.2	0	NM_030797		2:16745312
IGF2	3481	broad.mit.edu	37	11	2154783	2154783	+	Silent	SNP	G	G	A	rs373036890		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr11:2154783G>A	ENST00000416167.2	-	3	1436	c.270C>T	c.(268-270)tcC>tcT	p.S90S	IGF2_ENST00000381406.4_Silent_p.S93S|IGF2_ENST00000418738.2_Silent_p.S90S|IGF2_ENST00000434045.2_Silent_p.S146S|IGF2_ENST00000381389.1_Silent_p.S90S|IGF2_ENST00000381392.1_Silent_p.S93S|IGF2_ENST00000381395.1_Silent_p.S90S|MIR483_ENST00000385070.1_RNA|IGF2_ENST00000300632.5_Silent_p.S90S			P01344	IGF2_HUMAN	insulin-like growth factor 2	90	D.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|exocrine pancreas development (GO:0031017)|female pregnancy (GO:0007565)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|striated muscle cell differentiation (GO:0051146)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	growth factor activity (GO:0008083)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|protein serine/threonine kinase activator activity (GO:0043539)|receptor activator activity (GO:0030546)			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		CGTCCCTCTCGGACTTGGCGG	0.652																																						ENST00000416167.2		NA																	0				central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6						c.(268-270)tcC>tcT		insulin-like growth factor 2 (somatomedin A)			,,	0,4404		0,0,2202	46.0	40.0	42.0		270,270,438	2.2	1.0	11		42	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	IGF2	NM_000612.4,NM_001007139.4,NM_001127598.1	,,	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	,,	90/181,90/181,146/237	2154783	1,12999	2202	4298	6500	SO:0001819	synonymous_variant	3481				glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity	g.chr11:2154783G>A	M29645, AK025719	CCDS7728.1, CCDS44517.1	11p15.5	2014-09-16	2014-09-16		ENSG00000167244	ENSG00000167244			5466	protein-coding gene	gene with protein product	"""somatomedin A"""	147470	"""chromosome 11 open reading frame 43"""	C11orf43		2450353, 3167054	Standard	NM_000612		Approved	FLJ44734, IGF-II	uc009ydf.3	P01344	OTTHUMG00000009395	ENST00000416167.2:c.270C>T	11.37:g.2154783G>A		False	False		Somatic	0				IGF2_ENST00000418738.2_Silent_p.S90S|IGF2_ENST00000300632.5_Silent_p.S90S|IGF2_ENST00000434045.2_Silent_p.S146S|IGF2_ENST00000381395.1_Silent_p.S90S|IGF2_ENST00000381392.1_Silent_p.S93S|IGF2_ENST00000381389.1_Silent_p.S90S|IGF2_ENST00000381406.4_Silent_p.S93S	p.S90S			WXS	Illumina HiSeq	Phase_I	P01344	IGF2_HUMAN	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)	3	1436	-		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	90			D.		B3KX48|B7WP08|C9JAF2|E3UN45|P78449|Q14299|Q1WM26|Q9UC68|Q9UC69	Silent	SNP	ENST00000416167.2	37	c.270C>T	CCDS7728.1																																																																																				0.652	IGF2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026053.2	0	NM_000612		11:2154783
ACE	1636	broad.mit.edu	37	17	61558987	61558987	+	Missense_Mutation	SNP	T	T	C			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr17:61558987T>C	ENST00000290866.4	+	7	1030	c.1006T>C	c.(1006-1008)Tcc>Ccc	p.S336P	ACE_ENST00000428043.1_Missense_Mutation_p.S336P|ACE_ENST00000538928.1_Missense_Mutation_p.S336P|ACE_ENST00000584529.1_3'UTR	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	336	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CCTGGAGCTCTCCCCCATGCC	0.657																																						ENST00000290866.4		NA																	0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(1006-1008)Tcc>Ccc		angiotensin I converting enzyme	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						48.0	47.0	47.0					17																	61558987		2203	4300	6503	SO:0001583	missense	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61558987T>C	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.1006T>C	17.37:g.61558987T>C	ENSP00000290866:p.Ser336Pro	True	False		Somatic	0				ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Missense_Mutation_p.S336P|ACE_ENST00000538928.1_Missense_Mutation_p.S336P	p.S336P	NM_000789.3	NP_000780.1	WXS	Illumina HiSeq	Phase_I	P12821	ACE_HUMAN			7	1030	+			336			Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.1006T>C	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	t	3.965	-0.009611	0.07727	.	.	ENSG00000159640	ENST00000538928;ENST00000290866;ENST00000428043	T;T;T	0.32023	1.47;1.47;1.47	4.48	-4.34	0.03666	.	1.422290	0.04337	N	0.353487	T	0.12646	0.0307	N	0.04787	-0.16	0.09310	N	1	P;B;B	0.44006	0.824;0.283;0.008	B;B;B	0.33799	0.17;0.111;0.022	T	0.22800	-1.0206	10	0.30854	T	0.27	-0.4851	10.3367	0.43854	0.0:0.6211:0.1276:0.2513	.	336;336;336	F5H1K1;P12821-2;P12821	.;.;ACE_HUMAN	P	336	ENSP00000439591:S336P;ENSP00000290866:S336P;ENSP00000397593:S336P	ENSP00000290866:S336P	S	+	1	0	ACE	58912719	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.457000	0.06745	-0.775000	0.04584	-0.360000	0.07572	TCC		0.657	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2	0			17:61558987
KCNH3	23416	broad.mit.edu	37	12	49950199	49950199	+	Missense_Mutation	SNP	T	T	C			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr12:49950199T>C	ENST00000257981.6	+	13	2775	c.2515T>C	c.(2515-2517)Ttc>Ctc	p.F839L	MCRS1_ENST00000547182.1_5'Flank	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	839					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CCAGCCCAAGTTCTCTTTCCG	0.622																																						ENST00000257981.6		NA																	0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(2515-2517)Ttc>Ctc		potassium voltage-gated channel, subfamily H (eag-related), member 3							110.0	107.0	108.0					12																	49950199		2203	4300	6503	SO:0001583	missense	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49950199T>C	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.2515T>C	12.37:g.49950199T>C	ENSP00000257981:p.Phe839Leu	False	False		Somatic	0					p.F839L	NM_012284.1	NP_036416.1	WXS	Illumina HiSeq	Phase_I	Q9ULD8	KCNH3_HUMAN			13	2775	+			839					Q9UQ06	Missense_Mutation	SNP	ENST00000257981.6	37	c.2515T>C	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	T	32	5.153821	0.94645	.	.	ENSG00000135519	ENST00000257981	D	0.99239	-5.61	6.04	6.04	0.98038	.	0.000000	0.49305	D	0.000159	D	0.97885	0.9305	N	0.08118	0	0.39148	D	0.962164	P	0.49447	0.924	P	0.57776	0.827	D	0.98971	1.0801	10	0.44086	T	0.13	.	12.9803	0.58559	0.0:0.0:0.0:1.0	.	839	Q9ULD8	KCNH3_HUMAN	L	839	ENSP00000257981:F839L	ENSP00000257981:F839L	F	+	1	0	KCNH3	48236466	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.896000	0.63222	2.317000	0.78254	0.460000	0.39030	TTC		0.622	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	0	NM_012284		12:49950199
PDE4C	5143	broad.mit.edu	37	19	18331091	18331091	+	Silent	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr19:18331091G>A	ENST00000355502.3	-	11	1618	c.747C>T	c.(745-747)tcC>tcT	p.S249S	PDE4C_ENST00000598111.2_Silent_p.S19S|PDE4C_ENST00000597297.1_Silent_p.S19S|PDE4C_ENST00000262805.12_Silent_p.S217S|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000539010.1_Silent_p.S18S|PDE4C_ENST00000594465.3_Silent_p.S249S|PDE4C_ENST00000594617.3_Silent_p.S249S|PDE4C_ENST00000447275.3_Silent_p.S143S			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	249					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GGCTGGTTTCGGACAGGTGGG	0.597																																						ENST00000355502.3		NA																	0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(745-747)tcC>tcT		phosphodiesterase 4C, cAMP-specific	Dyphylline(DB00651)						96.0	101.0	99.0					19																	18331091		2203	4300	6503	SO:0001819	synonymous_variant	5143				signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr19:18331091G>A		CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"""Phosphodiesterases"""	8782	protein-coding gene	gene with protein product	"""phosphodiesterase E1 dunce homolog (Drosophila)"""	600128	"""phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"""	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.747C>T	19.37:g.18331091G>A		False	False		Somatic	0				PDE4C_ENST00000594617.3_Silent_p.S249S|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000539010.1_Silent_p.S18S|PDE4C_ENST00000594465.3_Silent_p.S249S|PDE4C_ENST00000262805.12_Silent_p.S217S|PDE4C_ENST00000447275.3_Silent_p.S143S|PDE4C_ENST00000598111.2_Silent_p.S19S|PDE4C_ENST00000597297.1_Silent_p.S19S	p.S249S			WXS	Illumina HiSeq	Phase_I	Q08493	PDE4C_HUMAN			11	1618	-			249					B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Silent	SNP	ENST00000355502.3	37	c.747C>T	CCDS12373.1																																																																																				0.597	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1	0			19:18331091
ZNF613	79898	broad.mit.edu	37	19	52448449	52448449	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr19:52448449G>A	ENST00000293471.6	+	6	1992	c.1313G>A	c.(1312-1314)aGc>aAc	p.S438N	ZNF613_ENST00000391794.4_Missense_Mutation_p.S402N|ZNF613_ENST00000601794.1_3'UTR	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	438					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(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AAAGGCTTCAGCCAGAAGACA	0.443																																						ENST00000293471.6		NA																	0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1312-1314)aGc>aAc		zinc finger protein 613							83.0	77.0	79.0					19																	52448449		2203	4300	6503	SO:0001583	missense	79898				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52448449G>A	AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.1313G>A	19.37:g.52448449G>A	ENSP00000293471:p.Ser438Asn	False	False		Somatic	0				ZNF613_ENST00000601794.1_3'UTR|ZNF613_ENST00000391794.4_Missense_Mutation_p.S402N	p.S438N	NM_001031721.3	NP_001026891.2	WXS	Illumina HiSeq	Phase_I	Q6PF04	ZN613_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)	6	1992	+		all_neural(266;0.117)	438					Q96SS9	Missense_Mutation	SNP	ENST00000293471.6	37	c.1313G>A	CCDS33089.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.238490	0.58886	.	.	ENSG00000176024	ENST00000293471;ENST00000391794;ENST00000535279	T;T	0.19394	2.15;2.15	3.36	2.31	0.28768	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.331298	0.22091	N	0.064756	T	0.25901	0.0631	L	0.35854	1.095	0.20764	N	0.99985	D	0.63046	0.992	P	0.59288	0.855	T	0.03043	-1.1079	10	0.59425	D	0.04	.	6.1129	0.20110	0.1094:0.1914:0.6992:0.0	.	438	Q6PF04	ZN613_HUMAN	N	438;402;112	ENSP00000293471:S438N;ENSP00000375671:S402N	ENSP00000293471:S438N	S	+	2	0	ZNF613	57140261	0.000000	0.05858	0.970000	0.41538	0.981000	0.71138	-0.130000	0.10498	0.756000	0.33013	0.655000	0.94253	AGC		0.443	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	0	NM_024840		19:52448449
ZC3H3	23144	broad.mit.edu	37	8	144620233	144620233	+	Missense_Mutation	SNP	G	G	A	rs368969638		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr8:144620233G>A	ENST00000262577.5	-	2	1335	c.1304C>T	c.(1303-1305)cCg>cTg	p.P435L		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	435					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			AGCCGAGAGCGGGGTCTCCCC	0.642																																						ENST00000262577.5		NA																	0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1303-1305)cCg>cTg		zinc finger CCCH-type containing 3		G	LEU/PRO	0,4406		0,0,2203	40.0	45.0	43.0		1304	4.4	0.0	8		43	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZC3H3	NM_015117.2	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	435/949	144620233	1,13005	2203	4300	6503	SO:0001583	missense	23144				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	g.chr8:144620233G>A	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.1304C>T	8.37:g.144620233G>A	ENSP00000262577:p.Pro435Leu	True	False		Somatic	0					p.P435L	NM_015117.2	NP_055932.2	WXS	Illumina HiSeq	Phase_I	Q8IXZ2	ZC3H3_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		2	1335	-	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		435					Q14163|Q8N4E2|Q9BUS4	Missense_Mutation	SNP	ENST00000262577.5	37	c.1304C>T	CCDS6402.1	.	.	.	.	.	.	.	.	.	.	G	3.338	-0.135192	0.06711	0.0	1.16E-4	ENSG00000014164	ENST00000262577	T	0.02863	4.13	5.31	4.4	0.53042	.	0.573853	0.17539	N	0.170615	T	0.02455	0.0075	L	0.47716	1.5	0.09310	N	1	P	0.37997	0.614	B	0.22152	0.038	T	0.47837	-0.9086	10	0.31617	T	0.26	-2.5276	6.5088	0.22210	0.0734:0.1267:0.6613:0.1386	.	435	Q8IXZ2	ZC3H3_HUMAN	L	435	ENSP00000262577:P435L	ENSP00000262577:P435L	P	-	2	0	ZC3H3	144691376	0.002000	0.14202	0.005000	0.12908	0.022000	0.10575	1.201000	0.32259	1.177000	0.42855	0.561000	0.74099	CCG		0.642	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	0	NM_015117		8:144620233
NLRP2	55655	broad.mit.edu	37	19	55501405	55501405	+	Silent	SNP	C	C	T	rs148932752		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr19:55501405C>T	ENST00000543010.1	+	9	2525	c.2382C>T	c.(2380-2382)tcC>tcT	p.S794S	NLRP2_ENST00000537859.1_Silent_p.S772S|NLRP2_ENST00000427260.2_Silent_p.S771S|NLRP2_ENST00000448584.2_Silent_p.S794S|NLRP2_ENST00000391721.4_Silent_p.S770S|NLRP2_ENST00000263437.6_Silent_p.S791S|NLRP2_ENST00000538819.1_Silent_p.S770S|NLRP2_ENST00000339757.7_Silent_p.S772S	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	794					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TGTCTTGTTCCGCTACCACTC	0.512																																						ENST00000543010.1		NA																	0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(2380-2382)tcC>tcT		NLR family, pyrin domain containing 2		C	,,,	1,4405	2.1+/-5.4	0,1,2202	112.0	99.0	103.0		2382,2316,2313,2382	-5.0	0.0	19	dbSNP_134	103	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NLRP2	NM_001174081.1,NM_001174082.1,NM_001174083.1,NM_017852.3	,,,	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	,,,	794/1063,772/1041,771/1040,794/1063	55501405	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55501405C>T	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.2382C>T	19.37:g.55501405C>T		False	False		Somatic	0				NLRP2_ENST00000339757.7_Silent_p.S772S|NLRP2_ENST00000538819.1_Silent_p.S770S|NLRP2_ENST00000263437.6_Silent_p.S791S|NLRP2_ENST00000427260.2_Silent_p.S771S|NLRP2_ENST00000537859.1_Silent_p.S772S|NLRP2_ENST00000448584.2_Silent_p.S794S|NLRP2_ENST00000391721.4_Silent_p.S770S	p.S794S	NM_001174081.1	NP_001167552.1	WXS	Illumina HiSeq	Phase_I	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	9	2525	+			794					B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	37	c.2382C>T	CCDS12913.1																																																																																				0.512	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	0	NM_017852		19:55501405
HP1BP3	50809	broad.mit.edu	37	1	21071440	21071440	+	Silent	SNP	C	C	T	rs144814158		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr1:21071440C>T	ENST00000312239.5	-	13	1651	c.1512G>A	c.(1510-1512)acG>acA	p.T504T	RP5-930J4.4_ENST00000413451.1_RNA|HP1BP3_ENST00000375003.2_Silent_p.T352T	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	504	Lys-rich.				nucleosome assembly (GO:0006334)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		TCTTGGCAGGCGTTTTGGCCT	0.527																																						ENST00000375003.2		NA																	0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16						c.(1054-1056)acG>acA		heterochromatin protein 1, binding protein 3		C		0,4406		0,0,2203	123.0	115.0	118.0		1512	-0.9	1.0	1	dbSNP_134	118	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	HP1BP3	NM_016287.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		504/554	21071440	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	50809				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:21071440C>T	BC053327	CCDS30621.1	1p36.12	2008-02-05			ENSG00000127483	ENSG00000127483			24973	protein-coding gene	gene with protein product						12477932	Standard	NM_016287		Approved	HP1-BP74	uc001bdw.1	Q5SSJ5	OTTHUMG00000002622	ENST00000312239.5:c.1512G>A	1.37:g.21071440C>T		False	False		Somatic	0				HP1BP3_ENST00000312239.5_Silent_p.T504T	p.T352T			WXS	Illumina HiSeq	Phase_I	Q5SSJ5	HP1B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)	9	2556	-		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	504			H15 3.		A6NI71|A8K5D7|B3KMZ8|B4E210|Q05BI0|Q5SSJ6|Q5SWC6|Q6PIM9|Q8NDF0|Q9UHY0	Silent	SNP	ENST00000312239.5	37	c.1056G>A	CCDS30621.1																																																																																				0.527	HP1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007457.2	0	NM_016287		1:21071440
INS-IGF2	723961	broad.mit.edu	37	11	2182109	2182109	+	Silent	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr11:2182109G>A	ENST00000397270.1	-	2	151	c.93C>T	c.(91-93)tgC>tgT	p.C31C	INS_ENST00000250971.3_Silent_p.C31C|INS_ENST00000397262.1_Silent_p.C31C|INS-IGF2_ENST00000481781.1_5'Flank|INS_ENST00000512523.1_Silent_p.C31C|INS_ENST00000381330.4_Silent_p.C31C	NM_001042376.2	NP_001035835.1	F8WCM5	INSR2_HUMAN	INS-IGF2 readthrough	31						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		GGTGTGAGCCGCACAGGTGTT	0.652																																						ENST00000397270.1		NA																	0				haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5						c.(91-93)tgC>tgT									52.0	52.0	52.0					11																	2182109		2200	4299	6499	SO:0001819	synonymous_variant	0				glucose metabolic process	extracellular region	hormone activity	g.chr11:2182109G>A	DQ104205	CCDS41598.1	11p15.5	2011-03-23			ENSG00000129965	ENSG00000129965			33527	other	readthrough						16531418	Standard	NM_001042376		Approved		uc001lvm.3	F8WCM5	OTTHUMG00000166213	ENST00000397270.1:c.93C>T	11.37:g.2182109G>A		False	False		Somatic	0				INS_ENST00000250971.3_Silent_p.C31C|INS_ENST00000512523.1_Silent_p.C31C|INS_ENST00000397262.1_Silent_p.C31C|INS_ENST00000381330.4_Silent_p.C31C	p.C31C	NM_001042376.2	NP_001035835.1	WXS	Illumina HiSeq	Phase_I	Q1WM24	Q1WM24_HUMAN	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)	2	151	-		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	31					Q1WM24	Silent	SNP	ENST00000397270.1	37	c.93C>T	CCDS41598.1																																																																																				0.652	INS-IGF2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000388404.1	0	NM_001042376.2		11:2182109
HPD	3242	broad.mit.edu	37	12	122292622	122292622	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr12:122292622G>A	ENST00000289004.4	-	7	436	c.401C>T	c.(400-402)gCt>gTt	p.A134V	RP11-7M8.2_ENST00000543848.1_RNA|HPD_ENST00000543163.1_Missense_Mutation_p.A95V	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	134					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	CTGCAGCACAGCAAACTTCAC	0.597																																						ENST00000543163.1		NA																	0				breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18						c.(283-285)gCt>gTt		4-hydroxyphenylpyruvate dioxygenase	Nitisinone(DB00348)						214.0	182.0	193.0					12																	122292622		2203	4300	6503	SO:0001583	missense	3242				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding	g.chr12:122292622G>A	BC014790	CCDS9224.1, CCDS53839.1	12q24.31	2013-09-19			ENSG00000158104	ENSG00000158104	1.13.11.27		5147	protein-coding gene	gene with protein product	"""glyoxalase domain containing 3"""	609695		PPD			Standard	NM_001171993		Approved	4-HPPD, 4HPPD, GLOD3	uc001ubj.3	P32754	OTTHUMG00000169081	ENST00000289004.4:c.401C>T	12.37:g.122292622G>A	ENSP00000289004:p.Ala134Val	True	False		Somatic	0				HPD_ENST00000289004.4_Missense_Mutation_p.A134V	p.A95V	NM_001171993.1	NP_001165464.1	WXS	Illumina HiSeq	Phase_I	P32754	HPPD_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	8	729	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		134					A8K461|B3KQ63|Q13234	Missense_Mutation	SNP	ENST00000289004.4	37	c.284C>T	CCDS9224.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.665066	0.67700	.	.	ENSG00000158104	ENST00000289004;ENST00000545969;ENST00000543163	T;T	0.65732	-0.17;-0.17	5.29	4.38	0.52667	.	0.301114	0.35151	N	0.003416	T	0.71702	0.3371	M	0.90425	3.115	0.80722	D	1	B	0.33280	0.405	B	0.37144	0.242	T	0.76599	-0.2900	10	0.87932	D	0	-7.5669	14.9723	0.71243	0.0:0.1435:0.8565:0.0	.	134	P32754	HPPD_HUMAN	V	134;131;95	ENSP00000289004:A134V;ENSP00000441677:A95V	ENSP00000289004:A134V	A	-	2	0	HPD	120777005	1.000000	0.71417	0.987000	0.45799	0.993000	0.82548	9.210000	0.95106	1.203000	0.43233	0.467000	0.42956	GCT		0.597	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402184.1	0	NM_002150		12:122292622
LRRC71	149499	broad.mit.edu	37	1	156897574	156897574	+	Missense_Mutation	SNP	G	G	A	rs538926687		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr1:156897574G>A	ENST00000337428.7	+	8	1026	c.872G>A	c.(871-873)cGc>cAc	p.R291H	LRRC71_ENST00000490146.1_3'UTR	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN	leucine rich repeat containing 71	291										endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						GCCCACAACCGCATCCAGGAC	0.716											OREG0013892	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000337428.7		NA																	0				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						c.(871-873)cGc>cAc		leucine rich repeat containing 71							24.0	30.0	28.0					1																	156897574		1970	4154	6124	SO:0001583	missense	149499							g.chr1:156897574G>A	BC033790	CCDS44249.1	1q23.1	2011-02-14	2011-02-14	2011-02-14	ENSG00000160838	ENSG00000160838			26556	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 92"""	C1orf92		14702039	Standard	NM_144702		Approved	FLJ32884	uc001fqm.2	Q8N4P6	OTTHUMG00000041298	ENST00000337428.7:c.872G>A	1.37:g.156897574G>A	ENSP00000336661:p.Arg291His	False	False		Somatic	0	OREG0013892	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1782	LRRC71_ENST00000490146.1_3'UTR	p.R291H	NM_144702.2	NP_653303.2	WXS	Illumina HiSeq	Phase_I	Q8N4P6	LRC71_HUMAN			8	1026	+			291					Q96M24	Missense_Mutation	SNP	ENST00000337428.7	37	c.872G>A	CCDS44249.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.452069	0.43531	.	.	ENSG00000160838	ENST00000337428	T	0.54279	0.58	4.48	3.55	0.40652	.	0.126973	0.36444	N	0.002599	T	0.16214	0.0390	N	0.21448	0.665	0.28290	N	0.923597	B;B	0.16603	0.008;0.018	B;B	0.09377	0.001;0.004	T	0.12293	-1.0553	10	0.27082	T	0.32	-12.9461	8.9158	0.35581	0.1089:0.0:0.8911:0.0	.	291;76	Q8N4P6;Q8N4P6-2	LRC71_HUMAN;.	H	291	ENSP00000336661:R291H	ENSP00000336661:R291H	R	+	2	0	LRRC71	155164198	0.957000	0.32711	1.000000	0.80357	0.971000	0.66376	1.585000	0.36600	1.061000	0.40601	0.555000	0.69702	CGC		0.716	LRRC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098961.1	0	NM_144702		1:156897574
CACTIN	58509	broad.mit.edu	37	19	3612314	3612314	+	Silent	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr19:3612314G>A	ENST00000429344.2	-	10	1936	c.1884C>T	c.(1882-1884)acC>acT	p.T628T	CACTIN_ENST00000221899.3_Silent_p.T560T|CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000248420.5_Silent_p.T628T	NM_001080543.1	NP_001074012.1	Q8WUQ7	CATIN_HUMAN	cactin, spliceosome C complex subunit	628					cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										AGGCCTTGCCGGTGAGTGGCA	0.652																																						ENST00000429344.2		NA																	0					NA						c.(1882-1884)acC>acT		cactin, spliceosome C complex subunit							35.0	42.0	39.0					19																	3612314		2180	4271	6451	SO:0001819	synonymous_variant	58509							g.chr19:3612314G>A	BC019848	CCDS45920.1	19p13.3	2012-06-08	2012-06-08	2012-06-08	ENSG00000105298	ENSG00000105298			29938	protein-coding gene	gene with protein product	"""NY REN 24 antigen"", ""functional spliceosome-associated protein c"", ""cactin homolog (Drosophila)"""		"""chromosome 19 open reading frame 29"""	C19orf29		8619474, 9110174, 21429463, 20829348	Standard	NM_001080543		Approved	NY-REN-24, fSAPc, cactin	uc002lyh.3	Q8WUQ7		ENST00000429344.2:c.1884C>T	19.37:g.3612314G>A		False	False		Somatic	0				CACTIN_ENST00000248420.5_Silent_p.T628T|CACTIN_ENST00000221899.3_Silent_p.T560T|CACTIN-AS1_ENST00000592274.1_RNA	p.T628T	NM_001080543.1	NP_001074012.1	WXS	Illumina HiSeq	Phase_I					10	1936	-			NA					A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4	Silent	SNP	ENST00000429344.2	37	c.1884C>T	CCDS45920.1	.	.	.	.	.	.	.	.	.	.	G	4.579	0.107594	0.08780	.	.	ENSG00000226800	ENST00000447295	.	.	.	4.02	-8.04	0.01110	.	.	.	.	.	T	0.26991	0.0661	.	.	.	0.46222	D	0.998933	.	.	.	.	.	.	T	0.22487	-1.0215	5	0.11182	T	0.66	.	4.2327	0.10611	0.1452:0.2882:0.4183:0.1483	.	.	.	.	S	196	.	ENSP00000412459:G196S	G	+	1	0	C19orf29OS	3563314	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-4.464000	0.00230	-1.413000	0.02027	-0.986000	0.02555	GGT		0.652	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457370.2	0			19:3612314
RETN	56729	broad.mit.edu	37	19	7735211	7735211	+	Silent	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr19:7735211G>A	ENST00000221515.2	+	4	391	c.303G>A	c.(301-303)gcG>gcA	p.A101A	RETN_ENST00000381324.2_Silent_p.A75A	NM_001193374.1|NM_020415.3	NP_001180303.1|NP_065148.1	Q9HD89	RETN_HUMAN	resistin	101					aging (GO:0007568)|fat cell differentiation (GO:0045444)|negative regulation of feeding behavior (GO:2000252)|positive regulation of collagen metabolic process (GO:0010714)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of synaptic transmission (GO:0050806)|response to insulin (GO:0032868)|response to mechanical stimulus (GO:0009612)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				ovary(1)	1						GGACCGGAGCGCGCTGCTGTC	0.706																																						ENST00000221515.2		NA																	0				ovary(1)	1						c.(301-303)gcG>gcA		resistin							7.0	7.0	7.0					19																	7735211		2151	4211	6362	SO:0001819	synonymous_variant	56729						hormone activity	g.chr19:7735211G>A	AF205952	CCDS12182.1	19p13.2	2008-02-05				ENSG00000104918			20389	protein-coding gene	gene with protein product		605565				12050208	Standard	NM_020415		Approved	FIZZ3, ADSF, RETN1	uc002mhf.1	Q9HD89		ENST00000221515.2:c.303G>A	19.37:g.7735211G>A		True	False		Somatic	0				RETN_ENST00000381324.2_Silent_p.A75A	p.A101A	NM_001193374.1|NM_020415.3	NP_001180303.1|NP_065148.1	WXS	Illumina HiSeq	Phase_I	Q9HD89	RETN_HUMAN			4	391	+			101					D6W649|Q540D9|Q76B53	Silent	SNP	ENST00000221515.2	37	c.303G>A	CCDS12182.1																																																																																				0.706	RETN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461731.1	0	NM_020415		19:7735211
DEFB119	245932	broad.mit.edu	37	20	29965177	29965177	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr20:29965177C>T	ENST00000376321.3	-	2	246	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	DEFB119_ENST00000492344.1_5'UTR|DEFB119_ENST00000339144.3_3'UTR|SNORA40_ENST00000390832.1_RNA	NM_153289.3	NP_695021.2	Q8N690	DB119_HUMAN	defensin, beta 119	43					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TAGGGCTGTTCGTTCTTTTTG	0.433																																						ENST00000376321.3		NA																	0				large_intestine(2)|lung(1)|prostate(1)	4						c.(127-129)Gaa>Aaa		defensin, beta 119							201.0	183.0	189.0					20																	29965177		2203	4300	6503	SO:0001583	missense	245932				defense response to bacterium	extracellular region		g.chr20:29965177C>T	AA939044	CCDS13178.1, CCDS33455.1	20q11.21	2007-02-19	2003-10-06		ENSG00000180483	ENSG00000180483		"""Defensins, beta"""	18099	protein-coding gene	gene with protein product			"""defensin, beta 120"""	DEFB120		11854508	Standard	NM_153289		Approved	DEFB-19, DEFB-20	uc002wvu.2	Q8N690	OTTHUMG00000032172	ENST00000376321.3:c.127G>A	20.37:g.29965177C>T	ENSP00000365499:p.Glu43Lys	True	False		Somatic	0				DEFB119_ENST00000339144.3_3'UTR|DEFB119_ENST00000492344.1_5'UTR	p.E43K	NM_153289.3	NP_695021.2	WXS	Illumina HiSeq	Phase_I	Q8N690	DB119_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	246	-	all_hematologic(12;0.158)		43					Q5GRG1|Q5JWP1|Q5TH42|Q8N689	Missense_Mutation	SNP	ENST00000376321.3	37	c.127G>A	CCDS13178.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.596310	0.46318	.	.	ENSG00000180483	ENST00000376321	T	0.73575	-0.76	4.31	4.31	0.51392	.	.	.	.	.	D	0.84946	0.5585	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86218	0.1629	8	0.87932	D	0	.	12.5997	0.56491	0.0:1.0:0.0:0.0	.	43	Q8N690	DB119_HUMAN	K	43	ENSP00000365499:E43K	ENSP00000365499:E43K	E	-	1	0	DEFB119	29428838	0.471000	0.25862	0.184000	0.23157	0.007000	0.05969	1.525000	0.35953	2.678000	0.91216	0.655000	0.94253	GAA		0.433	DEFB119-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078514.1	0	NM_153289		20:29965177
METTL21C	196541	broad.mit.edu	37	13	103343178	103343178	+	Silent	SNP	C	C	T			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr13:103343178C>T	ENST00000267273.6	-	2	272	c.267G>A	c.(265-267)gcG>gcA	p.A89A		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	89					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						GCCACACCACCGCTCCGTAAC	0.453																																						ENST00000267273.6		NA																	0				breast(1)|large_intestine(3)|lung(2)|skin(1)	7						c.(265-267)gcG>gcA		methyltransferase like 21C							134.0	112.0	120.0					13																	103343178		2203	4300	6503	SO:0001819	synonymous_variant	196541						methyltransferase activity	g.chr13:103343178C>T		CCDS32003.1	13q33.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000139780	ENSG00000139780			33717	protein-coding gene	gene with protein product		615259	"""chromosome 13 open reading frame 39"""	C13orf39			Standard	NM_001010977		Approved	LOC196541	uc001vpj.4	Q5VZV1	OTTHUMG00000017304	ENST00000267273.6:c.267G>A	13.37:g.103343178C>T		False	False		Somatic	0					p.A89A	NM_001010977.1	NP_001010977.1	WXS	Illumina HiSeq	Phase_I	Q5VZV1	MT21C_HUMAN			2	272	-			89						Silent	SNP	ENST00000267273.6	37	c.267G>A	CCDS32003.1																																																																																				0.453	METTL21C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045682.2	0	NM_001010977		13:103343178
DLG5	9231	broad.mit.edu	37	10	79570968	79570968	+	Silent	SNP	G	G	T			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr10:79570968G>T	ENST00000372391.2	-	23	4352	c.4347C>A	c.(4345-4347)acC>acA	p.T1449T	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Silent_p.T1109T	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1449					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GAGTGGAGTGGGTACCGGCAG	0.647																																						ENST00000372391.2		NA																	0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(4345-4347)acC>acA		discs, large homolog 5 (Drosophila)							88.0	85.0	86.0					10																	79570968		2203	4300	6503	SO:0001819	synonymous_variant	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79570968G>T	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.4347C>A	10.37:g.79570968G>T		True	False		Somatic	0				DLG5_ENST00000372388.2_Silent_p.T1109T|DLG5_ENST00000459739.1_5'UTR	p.T1449T	NM_004747.3	NP_004738.3	WXS	Illumina HiSeq	Phase_I	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		23	4352	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		1449					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	ENST00000372391.2	37	c.4347C>A	CCDS7353.2																																																																																				0.647	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2	0			10:79570968
PRDM16	63976	broad.mit.edu	37	1	3331138	3331138	+	Missense_Mutation	SNP	G	G	A	rs184929979		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr1:3331138G>A	ENST00000270722.5	+	10	2667	c.2618G>A	c.(2617-2619)cGg>cAg	p.R873Q	PRDM16_ENST00000441472.2_Missense_Mutation_p.R872Q|PRDM16_ENST00000378398.3_Missense_Mutation_p.R873Q|PRDM16_ENST00000514189.1_Missense_Mutation_p.R873Q|PRDM16_ENST00000442529.2_Missense_Mutation_p.R872Q|PRDM16_ENST00000378391.2_Missense_Mutation_p.R873Q|PRDM16_ENST00000511072.1_Missense_Mutation_p.R874Q|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	873	Interaction with CTBP1 and CTBP2. {ECO:0000250}.|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GTAGAAAAGCGGAAGGTCACA	0.687			T	EVI1	"""MDS, AML"""								G|||	1	0.000199681	0.0	0.0014	5008	,	,		13232	0.0		0.0	False		,,,				2504	0.0					ENST00000378398.3		NA		Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		"""MDS, AML"""		0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59						c.(2617-2619)cGg>cAg		PR domain containing 16							45.0	57.0	53.0					1																	3331138		1953	4136	6089	SO:0001583	missense	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3331138G>A	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.2618G>A	1.37:g.3331138G>A	ENSP00000270722:p.Arg873Gln	False	False		Somatic	0				PRDM16_ENST00000270722.5_Missense_Mutation_p.R873Q|PRDM16_ENST00000511072.1_Missense_Mutation_p.R874Q|PRDM16_ENST00000378391.2_Missense_Mutation_p.R873Q|PRDM16_ENST00000514189.1_Missense_Mutation_p.R873Q|PRDM16_ENST00000441472.2_Missense_Mutation_p.R872Q|PRDM16_ENST00000442529.2_Missense_Mutation_p.R872Q|PRDM16_ENST00000512462.1_3'UTR	p.R873Q			WXS	Illumina HiSeq	Phase_I	Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	11	2700	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	873			Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	37	c.2618G>A	CCDS41236.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	35	5.594815	0.96602	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.06608	3.35;3.32;3.33;3.33;3.37;3.32;3.39;3.34;3.28	4.94	4.94	0.65067	.	0.000000	0.46758	D	0.000277	T	0.23330	0.0564	M	0.64404	1.975	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;P	0.79108	0.992;0.955;0.965;0.903	T	0.00498	-1.1704	10	0.46703	T	0.11	.	18.1398	0.89636	0.0:0.0:1.0:0.0	.	873;873;872;872	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	Q	874;873;872;872;873;873;873;689;689;681	ENSP00000426975:R874Q;ENSP00000367651:R873Q;ENSP00000407968:R872Q;ENSP00000405253:R872Q;ENSP00000367643:R873Q;ENSP00000421400:R873Q;ENSP00000270722:R873Q;ENSP00000422504:R689Q;ENSP00000425796:R681Q	ENSP00000270722:R873Q	R	+	2	0	PRDM16	3320998	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.341000	0.97041	2.281000	0.76405	0.511000	0.50034	CGG		0.687	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	0	NM_022114		1:3331138
VPS13C	54832	broad.mit.edu	37	15	62283987	62283987	+	Silent	SNP	C	C	T			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr15:62283987C>T	ENST00000261517.5	-	17	1441	c.1368G>A	c.(1366-1368)ggG>ggA	p.G456G	VPS13C_ENST00000395896.4_Silent_p.G456G|VPS13C_ENST00000395898.3_Silent_p.G413G|VPS13C_ENST00000249837.3_Silent_p.G413G	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.G456G(1)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTAATTTTTGCCCAGACCGAA	0.383																																						ENST00000261517.5		NA																	1	Substitution - coding silent(1)	p.G456G(1)	prostate(1)	NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(1366-1368)ggG>ggA		vacuolar protein sorting 13 homolog C (S. cerevisiae)							125.0	131.0	129.0					15																	62283987		2203	4300	6503	SO:0001819	synonymous_variant	54832				protein localization			g.chr15:62283987C>T	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.1368G>A	15.37:g.62283987C>T		True	False		Somatic	0				VPS13C_ENST00000249837.3_Silent_p.G413G|VPS13C_ENST00000395898.3_Silent_p.G413G|VPS13C_ENST00000395896.4_Silent_p.G456G	p.G456G	NM_020821.2	NP_065872.1	WXS	Illumina HiSeq	Phase_I	Q709C8	VP13C_HUMAN			17	1441	-			456						Silent	SNP	ENST00000261517.5	37	c.1368G>A	CCDS32257.1																																																																																				0.383	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	0	NM_017684		15:62283987
TGFBR1	7046	broad.mit.edu	37	9	101891209	101891209	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr9:101891209C>T	ENST00000374994.4	+	2	287	c.170C>T	c.(169-171)tCt>tTt	p.S57F	TGFBR1_ENST00000374990.2_Missense_Mutation_p.S57F|TGFBR1_ENST00000552516.1_Missense_Mutation_p.S57F|TGFBR1_ENST00000550253.1_5'UTR	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	57					activation of MAPKK activity (GO:0000186)|angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|artery morphogenesis (GO:0048844)|blastocyst development (GO:0001824)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen fibril organization (GO:0030199)|embryonic cranial skeleton morphogenesis (GO:0048701)|endothelial cell migration (GO:0043542)|epithelial to mesenchymal transition (GO:0001837)|extracellular structure organization (GO:0043062)|germ cell migration (GO:0008354)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mesenchymal cell differentiation (GO:0048762)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|parathyroid gland development (GO:0060017)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of protein binding (GO:0043393)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|response to cholesterol (GO:0070723)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	endosome (GO:0005768)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TGCTTTGTCTCTGTCACAGAG	0.408																																						ENST00000374994.4		NA																	0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27						c.(169-171)tCt>tTt		transforming growth factor, beta receptor 1							92.0	83.0	86.0					9																	101891209		2203	4300	6503	SO:0001583	missense	7046				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding	g.chr9:101891209C>T		CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799			11772	protein-coding gene	gene with protein product	"""activin A receptor type II-like kinase, 53kDa"""	190181	"""transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)"", ""multiple self-healing squamous epithelioma"""	MSSE, ESS1		1319842, 8530052, 21358634	Standard	NM_001130916		Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.170C>T	9.37:g.101891209C>T	ENSP00000364133:p.Ser57Phe	False	False		Somatic	0				TGFBR1_ENST00000552516.1_Missense_Mutation_p.S57F|TGFBR1_ENST00000550253.1_5'UTR|TGFBR1_ENST00000374990.2_Missense_Mutation_p.S57F	p.S57F	NM_004612.2	NP_004603.1	WXS	Illumina HiSeq	Phase_I	P36897	TGFR1_HUMAN			2	287	+		Acute lymphoblastic leukemia(62;0.0559)	57					Q6IR47|Q706C0|Q706C1	Missense_Mutation	SNP	ENST00000374994.4	37	c.170C>T	CCDS6738.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508992	0.85282	.	.	ENSG00000106799	ENST00000374994;ENST00000540092;ENST00000374990;ENST00000552516;ENST00000546096;ENST00000546584	D;D;D;D	0.98044	-4.68;-4.68;-4.68;-4.68	6.08	6.08	0.98989	TGF-beta receptor/activin receptor, type I/II (1);	0.334572	0.36002	N	0.002853	D	0.97012	0.9024	M	0.73430	2.235	0.80722	D	1	P;B	0.40794	0.729;0.057	B;B	0.41236	0.351;0.082	D	0.96884	0.9648	10	0.87932	D	0	.	14.3009	0.66352	0.1487:0.8513:0.0:0.0	.	57;57	P36897-3;P36897	.;TGFR1_HUMAN	F	57;57;57;57;42;54	ENSP00000364133:S57F;ENSP00000364129:S57F;ENSP00000447297:S57F;ENSP00000447707:S54F	ENSP00000364129:S57F	S	+	2	0	TGFBR1	100931030	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.297000	0.65704	2.894000	0.99253	0.591000	0.81541	TCT		0.408	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053390.3	0			9:101891209
DNAH11	8701	broad.mit.edu	37	7	21628848	21628848	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr7:21628848G>A	ENST00000409508.3	+	12	2027	c.1996G>A	c.(1996-1998)Gct>Act	p.A666T	DNAH11_ENST00000328843.6_Missense_Mutation_p.A666T	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	666	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCCTGATCACGCTTTAGTTTA	0.303									Kartagener syndrome																													ENST00000328843.6		NA																	0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(1996-1998)Gct>Act		dynein, axonemal, heavy chain 11							84.0	81.0	82.0					7																	21628848		1814	4077	5891	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21628848G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.1996G>A	7.37:g.21628848G>A	ENSP00000475939:p.Ala666Thr	False	False		Somatic	0				DNAH11_ENST00000409508.3_Missense_Mutation_p.A666T	p.A666T			WXS	Illumina HiSeq	Phase_I	Q96DT5	DYH11_HUMAN			12	2027	+			666			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.1996G>A		.	.	.	.	.	.	.	.	.	.	G	4.091	0.014837	0.07959	.	.	ENSG00000105877	ENST00000328843	T	0.55413	0.52	5.58	3.79	0.43588	Dynein heavy chain, domain-1 (1);	0.823945	0.11127	N	0.596763	T	0.38612	0.1047	.	.	.	0.09310	N	0.999998	B	0.11235	0.004	B	0.04013	0.001	T	0.26815	-1.0092	9	0.41790	T	0.15	.	6.2505	0.20843	0.1557:0.0:0.6953:0.149	.	666	Q96DT5	DYH11_HUMAN	T	666	ENSP00000330671:A666T	ENSP00000330671:A666T	A	+	1	0	DNAH11	21595373	0.022000	0.18835	0.476000	0.27291	0.043000	0.13939	1.048000	0.30379	0.731000	0.32448	0.650000	0.86243	GCT		0.303	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	0	NM_003777		7:21628848
SAG	6295	broad.mit.edu	37	2	234229331	234229331	+	Silent	SNP	C	C	T			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr2:234229331C>T	ENST00000409110.1	+	5	467	c.237C>T	c.(235-237)atC>atT	p.I79I	SAG_ENST00000461532.1_3'UTR|SAG_ENST00000449594.2_5'UTR	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	79					cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		TTGACGTGATCGGCTTGACCT	0.607																																						ENST00000409110.1		NA																	0				cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(235-237)atC>atT		S-antigen; retina and pineal gland (arrestin)							35.0	38.0	37.0					2																	234229331		2111	4258	6369	SO:0001819	synonymous_variant	6295				rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity	g.chr2:234229331C>T		CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"""arrestin 1"""	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.237C>T	2.37:g.234229331C>T		False	False		Somatic	0				SAG_ENST00000449594.2_5'UTR|SAG_ENST00000461532.1_3'UTR	p.I79I	NM_000541.4	NP_000532.2	WXS	Illumina HiSeq	Phase_I	P10523	ARRS_HUMAN		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)	5	467	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)	79					A0FDN6|Q53SV3|Q99858	Silent	SNP	ENST00000409110.1	37	c.237C>T	CCDS46545.1																																																																																				0.607	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330126.1	0	NM_000541		2:234229331
SRRM4	84530	broad.mit.edu	37	12	119568524	119568524	+	Missense_Mutation	SNP	G	G	A	rs559217766	byFrequency	TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr12:119568524G>A	ENST00000267260.4	+	8	1044	c.656G>A	c.(655-657)cGa>cAa	p.R219Q	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	219	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						AAGTCCCGCCGAAGGCACTCC	0.657													G|||	3	0.000599042	0.0	0.0014	5008	,	,		12417	0.0		0.002	False		,,,				2504	0.0					ENST00000267260.4		NA																	0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(655-657)cGa>cAa		serine/arginine repetitive matrix 4							19.0	24.0	22.0					12																	119568524		1916	4105	6021	SO:0001583	missense	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119568524G>A	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.656G>A	12.37:g.119568524G>A	ENSP00000267260:p.Arg219Gln	False	False		Somatic	0				SRRM4_ENST00000537597.1_3'UTR	p.R219Q	NM_194286.3	NP_919262.2	WXS	Illumina HiSeq	Phase_I	A7MD48	SRRM4_HUMAN			8	1044	+			219			Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	c.656G>A	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360937	0.61403	.	.	ENSG00000139767	ENST00000267260	T	0.24723	1.84	5.07	4.18	0.49190	.	0.282843	0.28403	N	0.015470	T	0.25344	0.0616	L	0.50333	1.59	0.31952	N	0.609555	P	0.48998	0.918	B	0.44278	0.445	T	0.23119	-1.0197	10	0.25751	T	0.34	-2.736	10.6863	0.45846	0.0886:0.0:0.9114:0.0	.	219	A7MD48	SRRM4_HUMAN	Q	219	ENSP00000267260:R219Q	ENSP00000267260:R219Q	R	+	2	0	SRRM4	118052907	0.951000	0.32395	0.966000	0.40874	0.950000	0.60333	1.852000	0.39348	1.135000	0.42183	0.448000	0.29417	CGA		0.657	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	0	NM_194286		12:119568524
HOOK3	84376	broad.mit.edu	37	8	42805542	42805542	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr8:42805542G>A	ENST00000307602.4	+	6	612	c.412G>A	c.(412-414)Gcc>Acc	p.A138T	Y_RNA_ENST00000365644.1_RNA	NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	138	Sufficient for interaction with microtubules.				cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GTACATCCAAGCCATTATGAT	0.353			T	RET	papillary thyroid																																	ENST00000307602.4		NA		Dom	yes		8	8p11.21	84376	T	hook homolog 3			E	RET		papillary thyroid		0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31						c.(412-414)Gcc>Acc		hook microtubule-tethering protein 3							194.0	173.0	181.0					8																	42805542		2203	4300	6503	SO:0001583	missense	84376				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding	g.chr8:42805542G>A	AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"""hook homolog 3 (Drosophila)"""			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.412G>A	8.37:g.42805542G>A	ENSP00000305699:p.Ala138Thr	False	False		Somatic	0					p.A138T	NM_032410.3	NP_115786.1	WXS	Illumina HiSeq	Phase_I	Q86VS8	HOOK3_HUMAN	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)		6	612	+	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	138			Sufficient for interaction with microtubules.		D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	ENST00000307602.4	37	c.412G>A	CCDS6139.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.487393	0.44249	.	.	ENSG00000168172	ENST00000307602	T	0.17370	2.28	5.7	5.7	0.88788	.	0.104415	0.64402	N	0.000006	T	0.06462	0.0166	N	0.02539	-0.55	0.40492	D	0.980557	B;B	0.18310	0.027;0.0	B;B	0.22880	0.042;0.003	T	0.40627	-0.9553	10	0.20046	T	0.44	-4.5861	7.4677	0.27330	0.1979:0.0:0.8021:0.0	.	138;138	Q2VJ45;Q86VS8	.;HOOK3_HUMAN	T	138	ENSP00000305699:A138T	ENSP00000305699:A138T	A	+	1	0	HOOK3	42924699	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.773000	0.68898	2.677000	0.91161	0.650000	0.86243	GCC		0.353	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	0	NM_032410		8:42805542
PPP1R21	129285	broad.mit.edu	37	2	48698251	48698251	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr2:48698251C>T	ENST00000294952.8	+	10	1080	c.923C>T	c.(922-924)gCg>gTg	p.A308V	PPP1R21_ENST00000281394.4_Missense_Mutation_p.A308V|PPP1R21_ENST00000449090.2_Missense_Mutation_p.A308V	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	308						membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						CATGAAAATGCGTCCTATGTC	0.363																																						ENST00000294952.8		NA																	0				endometrium(2)|kidney(4)|lung(9)	15						c.(922-924)gCg>gTg		protein phosphatase 1, regulatory subunit 21							107.0	101.0	103.0					2																	48698251		2203	4300	6503	SO:0001583	missense	129285							g.chr2:48698251C>T	AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30595	protein-coding gene	gene with protein product			"""coiled-coil domain containing 128"", ""KLRAQ motif containing 1"""	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.923C>T	2.37:g.48698251C>T	ENSP00000294952:p.Ala308Val	False	False		Somatic	0				PPP1R21_ENST00000281394.4_Missense_Mutation_p.A308V|PPP1R21_ENST00000449090.2_Missense_Mutation_p.A308V	p.A308V	NM_001135629.2	NP_001129101.1	WXS	Illumina HiSeq	Phase_I	Q6ZMI0	KLRAQ_HUMAN			10	1080	+			308					B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Missense_Mutation	SNP	ENST00000294952.8	37	c.923C>T	CCDS46278.1	.	.	.	.	.	.	.	.	.	.	C	31	5.082330	0.94050	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.36	5.36	0.76844	.	0.048115	0.85682	D	0.000000	T	0.76557	0.4004	L	0.58101	1.795	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	0.91635	0.999;0.996;0.997;0.998;0.998	T	0.71813	-0.4479	9	0.30854	T	0.27	-14.7796	19.2914	0.94102	0.0:1.0:0.0:0.0	.	308;308;308;308;308	E1B6W7;Q6ZMI0;Q6ZMI0-2;Q6ZMI0-3;Q6ZMI0-4	.;PPR21_HUMAN;.;.;.	V	308	.	ENSP00000281394:A308V	A	+	2	0	KLRAQ1	48551755	1.000000	0.71417	0.988000	0.46212	0.991000	0.79684	6.908000	0.75730	2.793000	0.96121	0.561000	0.74099	GCG		0.363	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251238.4	0	NM_152994		2:48698251
AIM1	202	broad.mit.edu	37	6	106987390	106987390	+	Missense_Mutation	SNP	C	C	T	rs373859652		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr6:106987390C>T	ENST00000369066.3	+	7	4094	c.3607C>T	c.(3607-3609)Cgg>Tgg	p.R1203W	AIM1_ENST00000535438.1_5'Flank	NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TGGATCCATGCGGCCTCTGAA	0.438																																						ENST00000369066.3		NA																	0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(3607-3609)Cgg>Tgg		absent in melanoma 1		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	123.0	120.0	121.0		3607	3.7	1.0	6		121	0,8600		0,0,4300	no	missense	AIM1	NM_001624.2	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1203/1724	106987390	1,13005	2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106987390C>T	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.3607C>T	6.37:g.106987390C>T	ENSP00000358062:p.Arg1203Trp	False	False		Somatic	0					p.R1203W	NM_001624.2	NP_001615	WXS	Illumina HiSeq	Phase_I	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	7	4094	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	1203			Beta/gamma crystallin 'Greek key' 4.		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.3607C>T	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674524	0.67928	2.27E-4	0.0	ENSG00000112297	ENST00000369066	D	0.82344	-1.6	5.66	3.67	0.42095	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.094954	0.64402	D	0.000002	D	0.90728	0.7090	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.92760	0.6223	10	0.87932	D	0	.	13.4764	0.61312	0.4327:0.5673:0.0:0.0	.	1203	Q9Y4K1	AIM1_HUMAN	W	1203	ENSP00000358062:R1203W	ENSP00000358062:R1203W	R	+	1	2	AIM1	107094083	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.275000	0.33144	1.360000	0.45960	0.655000	0.94253	CGG		0.438	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1	0			6:106987390
OR7G2	390882	broad.mit.edu	37	19	9213690	9213690	+	Missense_Mutation	SNP	G	G	A	rs371388820	byFrequency	TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr19:9213690G>A	ENST00000305456.2	-	1	292	c.293C>T	c.(292-294)aCg>aTg	p.T98M		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	77						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(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						CTTTGGGATCGTGGTTGTGCT	0.488													-|||	3	0.000599042	0.0	0.0	5008	,	,		21260	0.001		0.0	False		,,,				2504	0.002				Esophageal Squamous(67;143 1448 28637 40648)	ENST00000305456.2		NA																	0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						c.(292-294)aCg>aTg		olfactory receptor, family 7, subfamily G, member 2		G	MET/THR	0,4406		0,0,2203	148.0	139.0	142.0		293	3.2	0.5	19		142	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR7G2	NM_001005193.1	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	98/346	9213690	1,13005	2203	4300	6503	SO:0001583	missense	390882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9213690G>A		CCDS32897.1	19p13.2	2013-09-24			ENSG00000170923	ENSG00000170923		"""GPCR / Class A : Olfactory receptors"""	8466	protein-coding gene	gene with protein product							Standard	NM_001005193		Approved	OST260	uc010xkk.2	Q8NG99	OTTHUMG00000179931	ENST00000305456.2:c.293C>T	19.37:g.9213690G>A	ENSP00000303822:p.Thr98Met	False	False		Somatic	0					p.T98M	NM_001005193.1	NP_001005193.1	WXS	Illumina HiSeq	Phase_I	Q8NG99	OR7G2_HUMAN			1	292	-			77					Q6IFJ4|Q96RA0	Missense_Mutation	SNP	ENST00000305456.2	37	c.293C>T	CCDS32897.1	.	.	.	.	.	.	.	.	.	.	g	4.837	0.155672	0.09236	0.0	1.16E-4	ENSG00000170923	ENST00000305456	T	0.00882	5.58	3.2	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.201904	0.23891	N	0.043541	T	0.01870	0.0059	M	0.87900	2.915	0.09310	N	1	P	0.49961	0.93	B	0.39379	0.298	T	0.41288	-0.9517	10	0.62326	D	0.03	.	8.3321	0.32193	0.1159:0.0:0.8841:0.0	.	77	Q8NG99	OR7G2_HUMAN	M	98	ENSP00000303822:T98M	ENSP00000303822:T98M	T	-	2	0	OR7G2	9074690	0.000000	0.05858	0.524000	0.27887	0.008000	0.06430	-0.287000	0.08388	2.145000	0.66743	0.494000	0.49563	ACG		0.488	OR7G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448994.1	0			19:9213690
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	WXS	Illumina HiSeq	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	NM_033360		12:25398284
GRM7	2917	broad.mit.edu	37	3	7728108	7728108	+	Intron	SNP	A	A	C			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr3:7728108A>C	ENST00000357716.4	+	9	2972				GRM7_ENST00000486284.1_Silent_p.T921T|GRM7_ENST00000402647.2_Silent_p.T921T|GRM7_ENST00000403881.1_Intron|GRM7_ENST00000389336.4_Intron	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7						adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						TCCCACCAACAGTATAGCTTT	0.323																																						ENST00000486284.1		NA																	0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(2761-2763)acA>acC		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						67.0	67.0	67.0					3																	7728108		2203	4298	6501	SO:0001627	intron_variant	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7728108A>C	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.2698+6126A>C	3.37:g.7728108A>C		False	False		Somatic	0				GRM7_ENST00000389336.4_Intron|GRM7_ENST00000403881.1_Intron|GRM7_ENST00000357716.4_Intron|GRM7_ENST00000402647.2_Silent_p.T921T	p.T921T	NM_181874.2	NP_870989.1	WXS	Illumina HiSeq	Phase_I	Q14831	GRM7_HUMAN			10	3037	+			0					Q8NFS2|Q8NFS3|Q8NFS4	Silent	SNP	ENST00000357716.4	37	c.2763A>C	CCDS43042.1																																																																																				0.323	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	0	NM_000844		3:7728108
TAL1	6886	broad.mit.edu	37	1	47685731	47685731	+	Silent	SNP	C	C	T			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr1:47685731C>T	ENST00000294339.3	-	4	1233	c.657G>A	c.(655-657)ccG>ccA	p.P219P	TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000371884.2_Silent_p.P219P|TAL1_ENST00000371883.3_Silent_p.P221P	NM_003189.2	NP_003180.1	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	219	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				angiogenesis (GO:0001525)|astrocyte fate commitment (GO:0060018)|basophil differentiation (GO:0030221)|cell fate commitment (GO:0045165)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|hemangioblast cell differentiation (GO:0060217)|hematopoietic stem cell differentiation (GO:0060218)|hemopoiesis (GO:0030097)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|platelet formation (GO:0030220)|positive regulation of cell division (GO:0051781)|positive regulation of chromatin assembly or disassembly (GO:0045799)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell proliferation (GO:0042127)|regulation of mast cell differentiation (GO:0060375)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord association neuron differentiation (GO:0021527)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|E-box binding (GO:0070888)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						GCTTCTTGTCCGGGGGATGTG	0.587			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic																																	ENST00000371883.3		NA		Dom	yes		1	1p32	6886	T	T-cell acute lymphocytic leukemia 1 (SCL)			L	"""TRD@, SIL"""		lymphoblastic leukemia/biphasic		0				haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(661-663)ccG>ccA		T-cell acute lymphocytic leukemia 1							65.0	63.0	64.0					1																	47685731		2203	4300	6503	SO:0001819	synonymous_variant	6886				basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity	g.chr1:47685731C>T	M29038	CCDS547.1	1p32	2013-05-21	2001-12-04		ENSG00000162367	ENSG00000162367		"""Basic helix-loop-helix proteins"""	11556	protein-coding gene	gene with protein product		187040		TCL5		2740341	Standard	NM_001287347		Approved	SCL, bHLHa17	uc009vyq.2	P17542	OTTHUMG00000007847	ENST00000294339.3:c.657G>A	1.37:g.47685731C>T		True	False		Somatic	0				TAL1_ENST00000371884.2_Silent_p.P219P|TAL1_ENST00000294339.3_Silent_p.P219P|TAL1_ENST00000459729.1_5'UTR	p.P221P			WXS	Illumina HiSeq	Phase_I	P17542	TAL1_HUMAN			4	1239	-			219			Helix-loop-helix motif.		D3DQ24	Silent	SNP	ENST00000294339.3	37	c.663G>A	CCDS547.1																																																																																				0.587	TAL1-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021640.1	0	NM_003189		1:47685731
SCN4A	6329	broad.mit.edu	37	17	62045516	62045516	+	Silent	SNP	G	G	A	rs201411232		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr17:62045516G>A	ENST00000435607.1	-	6	979	c.903C>T	c.(901-903)taC>taT	p.Y301Y	SCN4A_ENST00000578147.1_Silent_p.Y301Y	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	301					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGTCATTGCCGTACCACGTGT	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		20556	0.0		0.001	False		,,,				2504	0.0					ENST00000578147.1		NA																	0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(901-903)taC>taT		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						289.0	283.0	285.0					17																	62045516		2178	4279	6457	SO:0001819	synonymous_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62045516G>A	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.903C>T	17.37:g.62045516G>A		False	False		Somatic	0				SCN4A_ENST00000435607.1_Silent_p.Y301Y	p.Y301Y			WXS	Illumina HiSeq	Phase_I	P35499	SCN4A_HUMAN			6	979	-			301					Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	c.903C>T	CCDS45761.1																																																																																				0.552	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		0	NM_000334		17:62045516
ZFHX4	79776	broad.mit.edu	37	8	77767067	77767067	+	Missense_Mutation	SNP	A	A	G			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr8:77767067A>G	ENST00000521891.2	+	10	8358	c.7910A>G	c.(7909-7911)cAt>cGt	p.H2637R	ZFHX4_ENST00000050961.6_Missense_Mutation_p.H2592R|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H2611R|ZFHX4_ENST00000455469.2_Missense_Mutation_p.H2592R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2592					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATGCTTGATCATATTGCCCGC	0.507										HNSCC(33;0.089)																												ENST00000521891.2		NA																	0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(7909-7911)cAt>cGt		zinc finger homeobox 4							39.0	40.0	39.0					8																	77767067		1856	4100	5956	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767067A>G		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7910A>G	8.37:g.77767067A>G	ENSP00000430497:p.His2637Arg	False	False	HNSCC(33;0.089)	Somatic	0				ZFHX4_ENST00000050961.6_Missense_Mutation_p.H2592R|ZFHX4_ENST00000455469.2_Missense_Mutation_p.H2592R|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H2611R	p.H2637R	NM_024721.4	NP_078997.4	WXS	Illumina HiSeq	Phase_I	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8358	+			2592					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.7910A>G	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	8.874	0.950034	0.18431	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	D;D;D;D	0.95788	-3.81;-3.81;-3.81;-3.81	5.32	5.32	0.75619	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.47093	U	0.000258	D	0.89291	0.6673	N	0.01473	-0.845	0.80722	D	1	P;B;B	0.34412	0.453;0.399;0.259	B;B;B	0.42827	0.128;0.078;0.399	D	0.89968	0.4091	10	0.40728	T	0.16	.	15.4359	0.75146	1.0:0.0:0.0:0.0	.	2592;2592;2637	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	R	2637;2621;2592;2592;2611	ENSP00000430497:H2637R;ENSP00000399605:H2592R;ENSP00000050961:H2592R;ENSP00000430848:H2611R	ENSP00000050961:H2592R	H	+	2	0	ZFHX4	77929622	1.000000	0.71417	0.327000	0.25402	0.090000	0.18270	9.139000	0.94554	2.230000	0.72887	0.528000	0.53228	CAT		0.507	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	0	NM_024721		8:77767067
CPED1	79974	broad.mit.edu	37	7	120629686	120629686	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr7:120629686G>A	ENST00000310396.5	+	2	478	c.11G>A	c.(10-12)cGc>cAc	p.R4H	CPED1_ENST00000340646.5_Missense_Mutation_p.R4H|CPED1_ENST00000495036.1_3'UTR|CPED1_ENST00000450913.2_Missense_Mutation_p.R4H	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	4						endoplasmic reticulum (GO:0005783)											ATGGTCTGTCGCCCAGTGTTC	0.522																																						ENST00000310396.5		NA																	0					NA						c.(10-12)cGc>cAc		cadherin-like and PC-esterase domain containing 1							133.0	117.0	123.0					7																	120629686		2203	4300	6503	SO:0001583	missense	79974							g.chr7:120629686G>A		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.11G>A	7.37:g.120629686G>A	ENSP00000309772:p.Arg4His	True	False		Somatic	0				CPED1_ENST00000495036.1_3'UTR|CPED1_ENST00000340646.5_Missense_Mutation_p.R4H|CPED1_ENST00000450913.2_Missense_Mutation_p.R4H	p.R4H	NM_024913.4	NP_079189.4	WXS	Illumina HiSeq	Phase_I					2	478	+			NA					A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	c.11G>A	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.357487	0.61293	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000340646	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.64	4.76	0.60689	.	0.072669	0.53938	D	0.000056	T	0.44664	0.1304	M	0.66939	2.045	0.36552	D	0.871923	B;B	0.32717	0.381;0.047	B;B	0.26202	0.067;0.01	T	0.57219	-0.7849	10	0.72032	D	0.01	.	11.906	0.52713	0.0798:0.0:0.9202:0.0	.	4;4	A4D0V7-2;A4D0V7	.;CG058_HUMAN	H	4	ENSP00000309772:R4H;ENSP00000398082:R4H;ENSP00000406122:R4H;ENSP00000345235:R4H	ENSP00000309772:R4H	R	+	2	0	C7orf58	120416922	1.000000	0.71417	0.878000	0.34440	0.969000	0.65631	4.420000	0.59841	1.396000	0.46663	0.655000	0.94253	CGC		0.522	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	0	NM_024913		7:120629686
FBXL5	26234	broad.mit.edu	37	4	15627448	15627448	+	Missense_Mutation	SNP	A	A	G			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr4:15627448A>G	ENST00000341285.3	-	9	1401	c.1277T>C	c.(1276-1278)aTt>aCt	p.I426T	FBXL5_ENST00000382358.4_Missense_Mutation_p.I300T|FBXL5_ENST00000412094.2_Missense_Mutation_p.I409T	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	426					iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						AGTTGAAGTAATTTTGCTTGT	0.393																																						ENST00000341285.3		NA																	0				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						c.(1276-1278)aTt>aCt		F-box and leucine-rich repeat protein 5							88.0	85.0	86.0					4																	15627448		2203	4300	6503	SO:0001583	missense	26234				iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity	g.chr4:15627448A>G	AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"""F-boxes / Leucine-rich repeats"""	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.1277T>C	4.37:g.15627448A>G	ENSP00000344866:p.Ile426Thr	True	False		Somatic	0				FBXL5_ENST00000382358.4_Missense_Mutation_p.I300T|FBXL5_ENST00000412094.2_Missense_Mutation_p.I409T	p.I426T	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	WXS	Illumina HiSeq	Phase_I	Q9UKA1	FBXL5_HUMAN			9	1401	-			426					A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Missense_Mutation	SNP	ENST00000341285.3	37	c.1277T>C	CCDS3415.1	.	.	.	.	.	.	.	.	.	.	A	0.449	-0.894587	0.02491	.	.	ENSG00000118564	ENST00000341285;ENST00000412094;ENST00000382358	T;T;T	0.30182	1.57;1.57;1.54	5.92	-0.683	0.11335	.	0.891429	0.10025	N	0.725521	T	0.10294	0.0252	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32052	-0.9921	10	0.09338	T	0.73	-0.7497	0.2314	0.00180	0.2771:0.162:0.2613:0.2996	.	409;426	Q9UKA1-2;Q9UKA1	.;FBXL5_HUMAN	T	426;409;300	ENSP00000344866:I426T;ENSP00000408679:I409T;ENSP00000371795:I300T	ENSP00000344866:I426T	I	-	2	0	FBXL5	15236546	0.000000	0.05858	0.000000	0.03702	0.492000	0.33523	-0.249000	0.08842	-0.087000	0.12528	0.528000	0.53228	ATT		0.393	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214235.2	0			4:15627448
RASGEF1A	221002	broad.mit.edu	37	10	43701485	43701485	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr10:43701485C>T	ENST00000395809.1	-	2	2586	c.80G>A	c.(79-81)cGt>cAt	p.R27H	RASGEF1A_ENST00000395810.1_Missense_Mutation_p.R27H|RASGEF1A_ENST00000472864.1_5'Flank|RASGEF1A_ENST00000374459.1_Missense_Mutation_p.R35H			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	27					cell migration (GO:0016477)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.R27H(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						CCCGCCTCCACGCTCCCCCAT	0.637																																						ENST00000395809.1		NA																	1	Substitution - Missense(1)	p.R27H(1)	prostate(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(79-81)cGt>cAt		RasGEF domain family, member 1A							31.0	34.0	33.0					10																	43701485		2202	4296	6498	SO:0001583	missense	221002				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr10:43701485C>T	AK095136	CCDS7202.2, CCDS60517.1	10q11.21	2006-01-11			ENSG00000198915	ENSG00000198915			24246	protein-coding gene	gene with protein product		614531				12477932	Standard	XM_005271808		Approved	CG4853, FLJ37817	uc001jap.1	Q8N9B8	OTTHUMG00000018025	ENST00000395809.1:c.80G>A	10.37:g.43701485C>T	ENSP00000379154:p.Arg27His	False	False		Somatic	0				RASGEF1A_ENST00000374459.1_Missense_Mutation_p.R35H|RASGEF1A_ENST00000395810.1_Missense_Mutation_p.R27H	p.R27H			WXS	Illumina HiSeq	Phase_I	Q8N9B8	RGF1A_HUMAN			2	2586	-			27					Q8TBF1	Missense_Mutation	SNP	ENST00000395809.1	37	c.80G>A	CCDS7202.2	.	.	.	.	.	.	.	.	.	.	c	15.65	2.896724	0.52121	.	.	ENSG00000198915	ENST00000374459;ENST00000395810;ENST00000395809	T;T;T	0.71579	-0.56;-0.58;-0.58	5.49	3.63	0.41609	.	0.397928	0.18488	N	0.139733	T	0.54775	0.1879	N	0.22421	0.69	0.26555	N	0.973839	B;B	0.10296	0.002;0.003	B;B	0.08055	0.001;0.003	T	0.49606	-0.8922	10	0.45353	T	0.12	.	9.9083	0.41390	0.0:0.7883:0.0:0.2117	.	27;35	Q8N9B8;Q8N9B8-2	RGF1A_HUMAN;.	H	35;27;27	ENSP00000363583:R35H;ENSP00000379155:R27H;ENSP00000379154:R27H	ENSP00000363583:R35H	R	-	2	0	RASGEF1A	43021491	0.769000	0.28531	0.691000	0.30163	0.786000	0.44442	1.601000	0.36773	1.344000	0.45657	-0.119000	0.15052	CGT		0.637	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313989.1	0	NM_145313		10:43701485
ABTB2	25841	broad.mit.edu	37	11	34218927	34218927	+	Nonsense_Mutation	SNP	C	C	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr11:34218927C>A	ENST00000435224.2	-	3	1613	c.1189G>T	c.(1189-1191)Gag>Tag	p.E397*	ABTB2_ENST00000298992.2_Nonsense_Mutation_p.E211*|ABTB2_ENST00000530814.1_5'UTR	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	397					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				TCCATGGACTCCATCTGTGGA	0.632																																						ENST00000435224.2		NA																	0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1189-1191)Gag>Tag		ankyrin repeat and BTB (POZ) domain containing 2							62.0	62.0	62.0					11																	34218927		2202	4298	6500	SO:0001587	stop_gained	25841						DNA binding	g.chr11:34218927C>A	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.1189G>T	11.37:g.34218927C>A	ENSP00000410157:p.Glu397*	False	False		Somatic	0				ABTB2_ENST00000298992.2_Nonsense_Mutation_p.E211*|ABTB2_ENST00000530814.1_5'UTR	p.E397*	NM_145804.2	NP_665803.2	WXS	Illumina HiSeq	Phase_I	A8K6S9	A8K6S9_HUMAN			3	1613	-		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)	211					A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Nonsense_Mutation	SNP	ENST00000435224.2	37	c.1189G>T	CCDS7890.2	.	.	.	.	.	.	.	.	.	.	C	43	10.292513	0.99377	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.6082	19.6195	0.95650	0.0:1.0:0.0:0.0	.	.	.	.	X	397;211	.	ENSP00000298992:E211X	E	-	1	0	ABTB2	34175503	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.633000	0.89246	0.561000	0.74099	GAG		0.632	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	0	NM_145804		11:34218927
MAZ	4150	broad.mit.edu	37	16	29819148	29819148	+	Splice_Site	SNP	C	C	T			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr16:29819148C>T	ENST00000322945.6	+	2	1207	c.1042C>T	c.(1042-1044)Cgg>Tgg	p.R348W	MAZ_ENST00000563402.1_Intron|MAZ_ENST00000569978.1_5'Flank|AC009133.15_ENST00000566537.1_RNA|AC009133.14_ENST00000563806.1_RNA|MAZ_ENST00000219782.6_Splice_Site_p.R348W|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000568544.1_5'Flank|MAZ_ENST00000566906.2_Intron|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000562337.1_Intron|MAZ_ENST00000545521.1_Splice_Site_p.R325W|MAZ_ENST00000568282.1_5'Flank	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	348					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						GAGCTTCTCCCGGTGTGCACG	0.701																																					Colon(72;875 1167 15364 30899 37091)	ENST00000219782.6		NA																	0				endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(1042-1044)Cgg>Tgg		MYC-associated zinc finger protein (purine-binding transcription factor)							20.0	22.0	21.0					16																	29819148		2035	4144	6179	SO:0001630	splice_region_variant	4150				regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr16:29819148C>T	M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"""Zinc fingers, C2H2-type"""	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.1043+1C>T	16.37:g.29819148C>T		True	False		Somatic	0				MAZ_ENST00000566906.2_Intron|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000545521.1_Splice_Site_p.R325W|MAZ_ENST00000562337.1_Intron|MAZ_ENST00000322945.6_Splice_Site_p.R348W	p.R348W	NM_001042539.1	NP_001036004.1	WXS	Illumina HiSeq	Phase_I	P56270	MAZ_HUMAN			2	1148	+			348					A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	Splice_Site	SNP	ENST00000322945.6	37	c.1042C>T	CCDS42143.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.603964	0.66445	.	.	ENSG00000103495	ENST00000545521;ENST00000322945;ENST00000219782;ENST00000544343	T;T;T	0.58210	3.17;3.17;0.35	2.69	2.69	0.31865	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	U	0.000001	T	0.64907	0.2641	L	0.60067	1.865	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.951;1.0	D;D;P;D	0.91635	0.996;0.999;0.818;0.998	T	0.64050	-0.6498	10	0.38643	T	0.18	-5.0701	11.6094	0.51052	0.0:1.0:0.0:0.0	.	325;113;348;348	C6G496;Q59GP8;P56270;G5E927	.;.;MAZ_HUMAN;.	W	325;348;348;123	ENSP00000443956:R325W;ENSP00000313362:R348W;ENSP00000219782:R348W	ENSP00000219782:R348W	R	+	1	2	MAZ	29726649	0.772000	0.28567	1.000000	0.80357	0.693000	0.40251	0.202000	0.17295	1.459000	0.47892	0.435000	0.28638	CGG		0.701	MAZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435536.1	0	NM_002383	Missense_Mutation	16:29819148
OR1L1	26737	broad.mit.edu	37	9	125424481	125424481	+	Missense_Mutation	SNP	A	A	G			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr9:125424481A>G	ENST00000373686.1	+	1	637	c.637A>G	c.(637-639)Act>Gct	p.T213A	OR1L1_ENST00000309623.1_Missense_Mutation_p.T163A			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						CATTCTTCTGACTAATCAGCT	0.438																																						ENST00000373686.1		NA																	0				breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						c.(637-639)Act>Gct		olfactory receptor, family 1, subfamily L, member 1							342.0	310.0	321.0					9																	125424481		2203	4300	6503	SO:0001583	missense	26737				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125424481A>G		CCDS35127.1, CCDS35127.2	9q33.2	2013-09-20			ENSG00000173679	ENSG00000173679		"""GPCR / Class A : Olfactory receptors"""	8213	protein-coding gene	gene with protein product				OR1L2			Standard	NM_001005236		Approved	OR9-C	uc022bmz.1	Q8NH94	OTTHUMG00000020618	ENST00000373686.1:c.637A>G	9.37:g.125424481A>G	ENSP00000362790:p.Thr213Ala	False	False		Somatic	0				OR1L1_ENST00000309623.1_Missense_Mutation_p.T163A	p.T213A			WXS	Illumina HiSeq	Phase_I	Q8NH94	OR1L1_HUMAN			1	637	+			213					Q5T7Z3|Q6IFN2	Missense_Mutation	SNP	ENST00000373686.1	37	c.637A>G		.	.	.	.	.	.	.	.	.	.	A	12.13	1.845296	0.32606	.	.	ENSG00000173679	ENST00000373686;ENST00000309623	T;T	0.00241	8.46;8.46	3.26	-6.53	0.01866	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00109	0.0003	L	0.31065	0.9	0.09310	N	1	B	0.12013	0.005	B	0.14023	0.01	T	0.26467	-1.0102	9	0.62326	D	0.03	.	2.9697	0.05919	0.2427:0.2309:0.4172:0.1092	.	213	Q8NH94	OR1L1_HUMAN	A	213;163	ENSP00000362790:T213A;ENSP00000310773:T163A	ENSP00000310773:T163A	T	+	1	0	OR1L1	124464302	0.000000	0.05858	0.000000	0.03702	0.397000	0.30659	-1.740000	0.01839	-1.523000	0.01767	0.260000	0.18958	ACT		0.438	OR1L1-201	KNOWN	basic	protein_coding	protein_coding		0			9:125424481
ZPLD1	131368	broad.mit.edu	37	3	102196331	102196331	+	Missense_Mutation	SNP	G	G	A	rs79539385		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr3:102196331G>A	ENST00000491959.1	+	18	1999	c.1117G>A	c.(1117-1119)Gca>Aca	p.A373T	ZPLD1_ENST00000466937.1_Missense_Mutation_p.A373T|ZPLD1_ENST00000306176.1_Missense_Mutation_p.A389T			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	373						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CATCACCAGCGCACTGATATC	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		19617	0.001		0.0	False		,,,				2504	0.0					ENST00000306176.1		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						c.(1165-1167)Gca>Aca		zona pellucida-like domain containing 1		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	221.0	218.0	219.0		1165	5.1	0.8	3	dbSNP_131	219	0,8600		0,0,4300	no	missense	ZPLD1	NM_175056.1	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	389/432	102196331	1,13005	2203	4300	6503	SO:0001583	missense	131368					integral to membrane		g.chr3:102196331G>A	AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.1117G>A	3.37:g.102196331G>A	ENSP00000420265:p.Ala373Thr	False	False		Somatic	0				ZPLD1_ENST00000491959.1_Missense_Mutation_p.A373T|ZPLD1_ENST00000466937.1_Missense_Mutation_p.A373T	p.A389T	NM_175056.1	NP_778226.1	WXS	Illumina HiSeq	Phase_I	Q8TCW7	ZPLD1_HUMAN			11	1265	+			373					Q49AS1|Q8WU36	Missense_Mutation	SNP	ENST00000491959.1	37	c.1165G>A		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.42	3.619851	0.66787	2.27E-4	0.0	ENSG00000170044	ENST00000491959;ENST00000306176;ENST00000466937	T;T;T	0.81330	-1.46;-1.48;-1.46	5.97	5.07	0.68467	.	0.196138	0.53938	D	0.000056	T	0.70928	0.3280	L	0.32530	0.975	0.58432	D	0.999995	P;B	0.39964	0.697;0.342	B;B	0.35073	0.195;0.041	T	0.69143	-0.5223	10	0.26408	T	0.33	-12.7547	16.2776	0.82654	0.0:0.0:0.8664:0.1336	.	389;373	Q8TCW7-2;Q8TCW7	.;ZPLD1_HUMAN	T	373;389;373	ENSP00000420265:A373T;ENSP00000307801:A389T;ENSP00000418253:A373T	ENSP00000307801:A389T	A	+	1	0	ZPLD1	103679021	1.000000	0.71417	0.754000	0.31244	0.980000	0.70556	4.931000	0.63469	1.470000	0.48102	0.655000	0.94253	GCA		0.473	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1	0	NM_175056		3:102196331
BAZ1B	9031	broad.mit.edu	37	7	72892025	72892025	+	Missense_Mutation	SNP	T	T	G			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr7:72892025T>G	ENST00000339594.4	-	7	2104	c.1766A>C	c.(1765-1767)aAc>aCc	p.N589T	BAZ1B_ENST00000404251.1_Missense_Mutation_p.N589T	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	589					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGCTGGAAGGTTTTTGCCAGT	0.458																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	ENST00000339594.4		NA																	0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1765-1767)aAc>aCc		bromodomain adjacent to zinc finger domain, 1B							151.0	165.0	160.0					7																	72892025		2202	4299	6501	SO:0001583	missense	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72892025T>G	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.1766A>C	7.37:g.72892025T>G	ENSP00000342434:p.Asn589Thr	True	False		Somatic	0				BAZ1B_ENST00000404251.1_Missense_Mutation_p.N589T	p.N589T	NM_032408.3	NP_115784.1	WXS	Illumina HiSeq	Phase_I	Q9UIG0	BAZ1B_HUMAN			7	2104	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	589					B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	c.1766A>C	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	T	5.695	0.312690	0.10789	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.57273	0.41;0.41	5.82	-6.38	0.01957	.	0.558505	0.22152	N	0.063904	T	0.32436	0.0829	L	0.40543	1.245	0.24006	N	0.996196	B	0.02656	0.0	B	0.01281	0.0	T	0.30736	-0.9968	10	0.14656	T	0.56	-6.4103	10.4288	0.44395	0.0:0.4925:0.284:0.2234	.	589	Q9UIG0	BAZ1B_HUMAN	T	589	ENSP00000342434:N589T;ENSP00000385442:N589T	ENSP00000342434:N589T	N	-	2	0	BAZ1B	72529961	0.003000	0.15002	0.412000	0.26496	0.974000	0.67602	-0.564000	0.05936	-1.088000	0.03077	0.533000	0.62120	AAC		0.458	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	0	NM_032408		7:72892025
PCDHB3	56132	broad.mit.edu	37	5	140481822	140481822	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr5:140481822G>A	ENST00000231130.2	+	1	1589	c.1589G>A	c.(1588-1590)cGc>cAc	p.R530H	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	530	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R530H(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCGAGTTCCGCGTGGGCGCC	0.667																																						ENST00000231130.2		NA																	1	Substitution - Missense(1)	p.R530H(1)	large_intestine(1)	NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(1588-1590)cGc>cAc									59.0	63.0	62.0					5																	140481822		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140481822G>A	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1589G>A	5.37:g.140481822G>A	ENSP00000231130:p.Arg530His	False	False		Somatic	0					p.R530H	NM_018937.2	NP_061760.1	WXS	Illumina HiSeq	Phase_I	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1589	+			530			Cadherin 5.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.1589G>A	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	0.185	-1.058176	0.01950	.	.	ENSG00000113205	ENST00000231130	T	0.01767	4.65	4.14	1.03	0.20045	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.01092	0.0036	N	0.11064	0.09	0.09310	N	1	B	0.12630	0.006	B	0.13407	0.009	T	0.48854	-0.8998	9	0.15499	T	0.54	.	6.6896	0.23163	0.1992:0.224:0.5769:0.0	.	530	Q9Y5E6	PCDB3_HUMAN	H	530	ENSP00000231130:R530H	ENSP00000231130:R530H	R	+	2	0	PCDHB3	140462006	0.000000	0.05858	0.989000	0.46669	0.065000	0.16274	-0.362000	0.07602	0.834000	0.34852	0.650000	0.86243	CGC		0.667	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	0	NM_018937		5:140481822
