#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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	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_refseq_mrna_id	i_secondary_variant_classification
CHD5	26038	broad.mit.edu	37	1	6209438	6209438	+	Silent	SNP	C	C	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:6209438C>T	ENST00000262450.3	-	8	1128	c.1029G>A	c.(1027-1029)caG>caA	p.Q343Q	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CACAGTAATCCTGGTGGTCTG	0.577																																						uc001amb.2																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(1027-1029)caG>caA		Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.							121.0	87.0	99.0					1																	6209438		2203	4300	6503	SO:0001819	synonymous_variant	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6209438C>T	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.1029G>A	1.37:g.6209438C>T						CHD5_uc001amc.1_5'Flank	p.Q343Q	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	7	1140	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	343					A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	ENST00000262450.3	37	c.1029G>A	CCDS57.1																																																																																				0.577	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557	
MACF1	23499	broad.mit.edu	37	1	39763324	39763324	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:39763324C>G	ENST00000372915.3	+	20	2490	c.2403C>G	c.(2401-2403)ttC>ttG	p.F801L	MACF1_ENST00000545844.1_Missense_Mutation_p.F801L|MACF1_ENST00000361689.2_Missense_Mutation_p.F801L|MACF1_ENST00000564288.1_Missense_Mutation_p.F796L|MACF1_ENST00000539005.1_Missense_Mutation_p.F801L|MACF1_ENST00000567887.1_Missense_Mutation_p.F833L|MACF1_ENST00000317713.7_Missense_Mutation_p.F801L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	801					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGGAGTCATTCTTGAGGAACC	0.443																																						uc021olt.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(2401-2403)ttC>ttG		Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.							139.0	134.0	136.0					1																	39763324		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39763324C>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.2403C>G	1.37:g.39763324C>G	ENSP00000362006:p.Phe801Leu					MACF1_uc021ols.1_Missense_Mutation_p.F801L|MACF1_uc001cdc.2_Missense_Mutation_p.F801L|MACF1_uc001cda.1_Missense_Mutation_p.F709L|MACF1_uc009vvq.1_5'Flank|MACF1_uc001cdb.1_5'Flank	p.F801L	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		19	2455	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	801					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.2403C>G		.	.	.	.	.	.	.	.	.	.	C	17.32	3.359814	0.61403	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262;ENST00000372900	D;D;D;D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56	6.06	4.19	0.49359	.	.	.	.	.	D	0.89935	0.6859	L	0.36672	1.1	0.80722	D	1	B;B	0.15473	0.013;0.0	B;B	0.08055	0.003;0.003	D	0.84913	0.0849	9	0.49607	T	0.09	.	9.4037	0.38449	0.0:0.7837:0.0:0.2163	.	801;766	F8W8Q1;Q9UPN3-3	.;.	L	801;801;801;801;801;759;950;961	ENSP00000439537:F801L;ENSP00000362006:F801L;ENSP00000354573:F801L;ENSP00000313438:F801L;ENSP00000444364:F801L;ENSP00000435070:F759L;ENSP00000437059:F950L	ENSP00000313438:F801L	F	+	3	2	MACF1	39535911	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	1.643000	0.37217	0.884000	0.36064	0.655000	0.94253	TTC		0.443	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
MPL	4352	broad.mit.edu	37	1	43812465	43812465	+	Missense_Mutation	SNP	C	C	T	rs373621350	byFrequency	TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:43812465C>T	ENST00000372470.3	+	8	1210	c.1168C>T	c.(1168-1170)Cgc>Tgc	p.R390C	MPL_ENST00000413998.2_Missense_Mutation_p.R390C	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	MPL proto-oncogene, thrombopoietin receptor	390					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|platelet activation (GO:0030168)|regulation of chemokine production (GO:0032642)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			Eltrombopag(DB06210)|Romiplostim(DB05332)	CCCTGTAGTGCGCCTCCCCAC	0.582			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						c|||	3	0.000599042	0.0	0.0	5008	,	,		18538	0.0		0.0	False		,,,				2504	0.0031				NSCLC(52;534 1204 10016 41452 44427)	uc001ciw.3			yes	Dom	yes	Familial essential thrombocythemia	1	p34	4352	Mis	"""myeloproliferative leukemia virus oncogene, thrombopoietin receptor"""	yes	congenital amegakaryocytic thrombocytopenia	L		MPD	MPD		0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567						c.(1168-1170)Cgc>Tgc		Homo sapiens myeloproliferative leukemia virus oncogene (MPL), mRNA.		C	CYS/ARG	0,4406		0,0,2203	97.0	91.0	93.0		1168	4.3	1.0	1		93	1,8599	1.2+/-3.3	0,1,4299	no	missense	MPL	NM_005373.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	390/636	43812465	1,13005	2203	4300	6503	SO:0001583	missense	4352				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity	g.chr1:43812465C>T	M90102	CCDS483.1	1p34	2014-09-17	2014-06-26		ENSG00000117400	ENSG00000117400		"""CD molecules"", ""Fibronectin type III domain containing"""	7217	protein-coding gene	gene with protein product		159530	"""myeloproliferative leukemia virus oncogene"""			1608974	Standard	NM_005373		Approved	CD110, TPOR	uc001ciw.3	P40238	OTTHUMG00000007429	ENST00000372470.3:c.1168C>T	1.37:g.43812465C>T	ENSP00000361548:p.Arg390Cys					MPL_uc001civ.3_Missense_Mutation_p.R390C|MPL_uc009vwr.3_Missense_Mutation_p.R383C	p.R390C	NM_005373	NP_005364	P40238	TPOR_HUMAN			7	1213	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	390					Q5JUZ0	Missense_Mutation	SNP	ENST00000372470.3	37	c.1168C>T	CCDS483.1	.	.	.	.	.	.	.	.	.	.	c	14.08	2.429383	0.43122	0.0	1.16E-4	ENSG00000117400	ENST00000372468;ENST00000372470;ENST00000413998	D;D	0.82255	-1.59;-1.59	5.19	4.27	0.50696	Fibronectin, type III (2);	0.322750	0.33572	N	0.004772	T	0.71005	0.3289	N	0.08118	0	0.38992	D	0.959168	P;D;P	0.63046	0.923;0.992;0.947	B;P;B	0.46339	0.328;0.513;0.27	T	0.76844	-0.2809	10	0.62326	D	0.03	-13.2757	11.8954	0.52654	0.0:0.8242:0.1758:0.0	.	383;390;390	Q308M1;P40238;Q5JUY5	.;TPOR_HUMAN;.	C	390	ENSP00000361548:R390C;ENSP00000414004:R390C	ENSP00000361546:R390C	R	+	1	0	MPL	43585052	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	2.485000	0.45250	1.173000	0.42796	-0.474000	0.04947	CGC		0.582	MPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019522.1	NM_005373	
EPS8L3	79574	broad.mit.edu	37	1	110293381	110293381	+	Silent	SNP	G	G	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:110293381G>A	ENST00000361965.4	-	18	1777	c.1671C>T	c.(1669-1671)agC>agT	p.S557S	EPS8L3_ENST00000369805.3_Silent_p.S558S|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Silent_p.S527S	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	557						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		GAAGTAGCTGGCTCCCCGTCA	0.607																																						uc001dyr.2																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1669-1671)agC>agT		Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 2, mRNA.							66.0	51.0	56.0					1																	110293381		2203	4300	6503	SO:0001819	synonymous_variant	79574					cytoplasm	protein binding	g.chr1:110293381G>A	AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.1671C>T	1.37:g.110293381G>A						EPS8L3_uc001dys.2_Silent_p.S527S|EPS8L3_uc001dyq.2_Silent_p.S558S|EPS8L3_uc009wfm.2_Silent_p.S494S	p.S557S	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)	17	1896	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	557					A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Silent	SNP	ENST00000361965.4	37	c.1671C>T	CCDS814.1																																																																																				0.607	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526	
IGSF3	3321	broad.mit.edu	37	1	117150591	117150591	+	Missense_Mutation	SNP	T	T	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:117150591T>A	ENST00000369486.3	-	5	1960	c.1195A>T	c.(1195-1197)Aac>Tac	p.N399Y	IGSF3_ENST00000369483.1_Missense_Mutation_p.N399Y|IGSF3_ENST00000318837.6_Missense_Mutation_p.N399Y	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	399					lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		ATGGGGATGTTCTTGGGACGC	0.517																																						uc001egq.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62						c.(1195-1197)Aac>Tac		Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA.							102.0	110.0	107.0					1																	117150591		2203	4300	6503	SO:0001583	missense	3321					integral to membrane		g.chr1:117150591T>A	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1195A>T	1.37:g.117150591T>A	ENSP00000358498:p.Asn399Tyr					IGSF3_uc001egr.1_Missense_Mutation_p.N399Y|IGSF3_uc001egs.1_Missense_Mutation_p.N72Y	p.N399Y	NM_001542	NP_001533	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	4	1900	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	399					A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	c.1195A>T	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	T	19.88	3.908307	0.72868	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.03358	3.98;3.96;3.96	4.67	4.67	0.58626	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.116244	0.64402	D	0.000015	T	0.05090	0.0136	L	0.27053	0.805	0.80722	D	1	P;D;P	0.89917	0.724;1.0;0.604	P;D;B	0.91635	0.573;0.999;0.369	T	0.47114	-0.9142	10	0.54805	T	0.06	-59.7763	12.3628	0.55213	0.0:0.0:0.0:1.0	.	399;399;399	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	Y	399	ENSP00000358498:N399Y;ENSP00000358495:N399Y;ENSP00000321184:N399Y	ENSP00000321184:N399Y	N	-	1	0	IGSF3	116952114	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.159000	0.77483	2.078000	0.62432	0.455000	0.32223	AAC		0.517	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542	
LCE1F	353137	broad.mit.edu	37	1	152749094	152749094	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:152749094C>T	ENST00000334371.2	+	1	247	c.247C>T	c.(247-249)Cgt>Tgt	p.R83C		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	83	Poly-Arg.				keratinization (GO:0031424)					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACAGACGGCGTAGGTCCCA	0.701																																						uc010pdv.2																			0				kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(247-249)Cgt>Tgt		Homo sapiens late cornified envelope 1F (LCE1F), mRNA.							22.0	26.0	24.0					1																	152749094		2203	4298	6501	SO:0001583	missense	353137				keratinization			g.chr1:152749094C>T		CCDS1023.1	1q21.3	2008-02-05			ENSG00000240386	ENSG00000240386		"""Late cornified envelopes"""	29467	protein-coding gene	gene with protein product		612608				11698679	Standard	NM_178354		Approved	LEP6	uc010pdv.2	Q5T754	OTTHUMG00000012403	ENST00000334371.2:c.247C>T	1.37:g.152749094C>T	ENSP00000334187:p.Arg83Cys						p.R83C	NM_178354	NP_848131	Q5T754	LCE1F_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		0	247	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		83			Poly-Arg.			Missense_Mutation	SNP	ENST00000334371.2	37	c.247C>T	CCDS1023.1	.	.	.	.	.	.	.	.	.	.	C	8.163	0.789870	0.16258	.	.	ENSG00000240386	ENST00000334371	T	0.04406	3.63	4.45	3.46	0.39613	.	0.268702	0.18250	N	0.146987	T	0.05364	0.0142	M	0.65498	2.005	0.30214	N	0.797467	D	0.69078	0.997	P	0.51016	0.656	T	0.05007	-1.0912	10	0.87932	D	0	.	9.1314	0.36848	0.2177:0.7823:0.0:0.0	.	83	Q5T754	LCE1F_HUMAN	C	83	ENSP00000334187:R83C	ENSP00000334187:R83C	R	+	1	0	LCE1F	151015718	0.007000	0.16637	0.983000	0.44433	0.400000	0.30750	1.238000	0.32707	2.445000	0.82738	0.557000	0.71058	CGT		0.701	LCE1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034523.2	NM_178354	
OR10X1	128367	broad.mit.edu	37	1	158549258	158549258	+	Silent	SNP	G	G	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:158549258G>A	ENST00000368150.1	-	1	431	c.432C>T	c.(430-432)aaC>aaT	p.N144N		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					ATCTTAGAGGGTTACAGATGG	0.463																																						uc010pin.2																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(430-432)aaC>aaT		Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA.							73.0	73.0	73.0					1																	158549258		2203	4300	6503	SO:0001819	synonymous_variant	128367				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158549258G>A	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.432C>T	1.37:g.158549258G>A							p.N144N	NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN			0	432	-	all_hematologic(112;0.0378)		144					Q6IFR8	Silent	SNP	ENST00000368150.1	37	c.432C>T	CCDS30900.1																																																																																				0.463	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477	
TNFSF18	8995	broad.mit.edu	37	1	173010834	173010834	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:173010834C>T	ENST00000404377.3	-	3	273	c.273G>A	c.(271-273)tgG>tgA	p.W91*	TNFSF18_ENST00000239468.2_Nonsense_Mutation_p.W69*|RP1-15D23.2_ENST00000432694.2_lincRNA	NM_005092.3	NP_005083.2	Q9UNG2	TNF18_HUMAN	tumor necrosis factor (ligand) superfamily, member 18	91					cell-cell signaling (GO:0007267)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of T cell proliferation (GO:0042129)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|tumor necrosis factor receptor superfamily binding (GO:0032813)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						ATGCCATTTGCCATTTTGAGG	0.353																																						uc001giu.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						c.(271-273)tgG>tgA		Homo sapiens tumor necrosis factor (ligand) superfamily, member 18 (TNFSF18), mRNA.							114.0	121.0	119.0					1																	173010834		2202	4299	6501	SO:0001587	stop_gained	8995				anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr1:173010834C>T	AF117713	CCDS1305.2	1q23	2008-02-05			ENSG00000120337	ENSG00000120337		"""Tumor necrosis factor (ligand) superfamily"""	11932	protein-coding gene	gene with protein product		603898				10037686, 10074428	Standard	NM_005092		Approved	AITRL, TL6, hGITRL	uc001giu.2	Q9UNG2	OTTHUMG00000034835	ENST00000404377.3:c.273G>A	1.37:g.173010834C>T	ENSP00000385470:p.Trp91*						p.W91*	NM_005092	NP_005083	Q9UNG2	TNF18_HUMAN			2	274	-			91					A9IQG8|O95852|Q6ISV1	Nonsense_Mutation	SNP	ENST00000404377.3	37	c.273G>A	CCDS1305.2	.	.	.	.	.	.	.	.	.	.	C	26.2	4.711105	0.89112	.	.	ENSG00000120337	ENST00000404377;ENST00000239468	.	.	.	5.66	5.66	0.87406	.	0.000000	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.0988	15.6019	0.76631	0.0:1.0:0.0:0.0	.	.	.	.	X	91;69	.	ENSP00000239468:W69X	W	-	3	0	TNFSF18	171277457	1.000000	0.71417	0.998000	0.56505	0.834000	0.47266	1.906000	0.39887	2.833000	0.97629	0.655000	0.94253	TGG		0.353	TNFSF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084268.2	NM_005092	
RASAL2	9462	broad.mit.edu	37	1	178427055	178427055	+	Silent	SNP	A	A	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:178427055A>T	ENST00000462775.1	+	12	2330	c.2205A>T	c.(2203-2205)ggA>ggT	p.G735G	RASAL2_ENST00000367649.3_Silent_p.G876G|RASAL2_ENST00000448150.3_Silent_p.G865G	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	735					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GCTTGACCGGAAGCCAGCTTT	0.572																																						uc001glq.3																			0				biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(2626-2628)ggA>ggT		Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.							70.0	66.0	67.0					1																	178427055		2203	4300	6503	SO:0001819	synonymous_variant	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178427055A>T	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.2205A>T	1.37:g.178427055A>T						RASAL2_uc001glr.3_Silent_p.G735G|RASAL2_uc009wxc.3_Silent_p.G249G	p.G876G	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN			13	3392	+			735					F8W755|O95174|Q2TB22|Q5TFU9	Silent	SNP	ENST00000462775.1	37	c.2628A>T	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	A	6.810	0.518439	0.13005	.	.	ENSG00000075391	ENST00000433130	.	.	.	5.28	4.18	0.49190	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5137	0.50509	0.7137:0.2863:0.0:0.0	.	.	.	.	X	286	.	.	K	+	1	0	RASAL2	176693678	0.998000	0.40836	1.000000	0.80357	0.949000	0.60115	0.463000	0.21972	1.988000	0.58038	0.533000	0.62120	AAG		0.572	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692	
OR2T3	343173	broad.mit.edu	37	1	248636975	248636975	+	Silent	SNP	C	C	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:248636975C>T	ENST00000359594.2	+	1	349	c.324C>T	c.(322-324)ttC>ttT	p.F108F		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGATGTTCTTCTACCTGACCC	0.537																																						uc001iel.1																			0		p.F107L(1)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31						c.(322-324)ttC>ttT		Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.							150.0	135.0	140.0					1																	248636975		2193	4298	6491	SO:0001819	synonymous_variant	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248636975C>T		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.324C>T	1.37:g.248636975C>T							p.F108F	NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		0	324	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		108					B2RNJ1	Silent	SNP	ENST00000359594.2	37	c.324C>T	CCDS31117.1																																																																																				0.537	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495	
PTEN	5728	broad.mit.edu	37	10	89692852	89692856	+	Frame_Shift_Del	DEL	AAGTG	AAGTG	-	rs587781254		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr10:89692852_89692856delAAGTG	ENST00000371953.3	+	5	1693_1697	c.336_340delAAGTG	c.(334-342)ctaagtgaafs	p.SE113fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	113	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.L112fs*3(1)|p.E114*(1)|p.S113fs*9(1)|p.S113R(1)|p.S113fs*20(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACCAATGGCTAAGTGAAGATGACAA	0.376		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		55	Whole gene deletion(37)|Deletion - Frameshift(10)|Unknown(5)|Insertion - Frameshift(1)|Substitution - Nonsense(1)|Substitution - Missense(1)	p.0?(37)|p.L112V(5)|p.?(5)|p.R55fs*1(5)|p.W111R(3)|p.L112fs*3(2)|p.L112P(2)|p.E114*(2)|p.Y27fs*1(2)|p.S113fs*9(2)|p.S113R(2)|p.W111*(2)|p.S113fs*20(2)|p.Y27_N212>Y(2)|p.L112Q(2)|p.L112R(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(12)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|endometrium(4)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(334-342)ctaagtgaafs		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.																																				SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692852_89692856delAAGTG	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.336_340delAAGTG	10.37:g.89692852_89692856delAAGTG	ENSP00000361021:p.Ser113fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.L112fs	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	4	1368_1372	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	112		L -> P (in CD and LDD; loss of phosphatase activity towards Ins(1,3,4,5)P4).|L -> R (loss of phosphatase activity towards Ins(1,3,4,5)P4).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.336_340delAAGTG	CCDS31238.1																																																																																				0.376	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
CYP2C8	1558	broad.mit.edu	37	10	96827103	96827103	+	Missense_Mutation	SNP	T	T	G			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr10:96827103T>G	ENST00000371270.3	-	3	437	c.343A>C	c.(343-345)Agc>Cgc	p.S115R	CYP2C8_ENST00000535898.1_Missense_Mutation_p.S13R|CYP2C8_ENST00000539050.1_Missense_Mutation_p.S29R	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	115					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	TTTCCATTGCTGGAAATGATT	0.483																																						uc001kkb.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21						c.(343-345)Agc>Cgc		Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)						80.0	78.0	79.0					10																	96827103		2203	4300	6503	SO:0001583	missense	1558				exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	g.chr10:96827103T>G	M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"""Cytochrome P450s"""	2622	protein-coding gene	gene with protein product		601129	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"""			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.343A>C	10.37:g.96827103T>G	ENSP00000360317:p.Ser115Arg					CYP2C8_uc010qoa.2_Missense_Mutation_p.S45R|CYP2C8_uc010qoc.2_Missense_Mutation_p.S13R|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Missense_Mutation_p.S29R|CYP2C8_uc021pwl.1_Missense_Mutation_p.S45R|CYP2C8_uc010qod.1_Missense_Mutation_p.S29R	p.S115R	NM_000770	NP_000761	P10632	CP2C8_HUMAN		all cancers(201;6.21e-05)	2	438	-		Colorectal(252;0.0397)	115					A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Missense_Mutation	SNP	ENST00000371270.3	37	c.343A>C	CCDS7438.1	.	.	.	.	.	.	.	.	.	.	T	12.30	1.897010	0.33535	.	.	ENSG00000138115	ENST00000371270;ENST00000535868;ENST00000535898;ENST00000539050	T;T;T	0.70164	-0.46;-0.46;-0.46	4.64	4.64	0.57946	.	0.000000	0.85682	U	0.000000	D	0.82444	0.5038	M	0.84585	2.705	0.41091	D	0.985594	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.992;1.0;1.0;0.999	D	0.85807	0.1377	10	0.87932	D	0	.	13.0097	0.58724	0.0:0.0:0.0:1.0	.	29;13;83;115	F5H7Q9;B7Z1F6;B7Z8S1;P10632	.;.;.;CP2C8_HUMAN	R	115;82;13;29	ENSP00000360317:S115R;ENSP00000445062:S13R;ENSP00000442343:S29R	ENSP00000360317:S115R	S	-	1	0	CYP2C8	96817093	0.928000	0.31464	0.863000	0.33907	0.042000	0.13812	2.362000	0.44169	1.962000	0.57031	0.459000	0.35465	AGC		0.483	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	NM_000770	
DUSP5	1847	broad.mit.edu	37	10	112269798	112269798	+	Missense_Mutation	SNP	G	G	A	rs373903086		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr10:112269798G>A	ENST00000369583.3	+	4	1053	c.769G>A	c.(769-771)Ggc>Agc	p.G257S	DUSP5_ENST00000468749.1_3'UTR	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	257	Tyrosine-protein phosphatase.				endoderm formation (GO:0001706)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		GGAAAAGGGAGGCAAGGTCCT	0.512																																						uc001kzd.3																			0				kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13						c.(769-771)Ggc>Agc		Homo sapiens dual specificity phosphatase 5 (DUSP5), mRNA.		G	SER/GLY	0,4406		0,0,2203	65.0	63.0	63.0		769	5.2	1.0	10		63	1,8599	1.2+/-3.3	0,1,4299	no	missense	DUSP5	NM_004419.3	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	257/385	112269798	1,13005	2203	4300	6503	SO:0001583	missense	1847				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr10:112269798G>A	U16996	CCDS7566.1	10q25	2011-06-09			ENSG00000138166	ENSG00000138166		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3071	protein-coding gene	gene with protein product		603069				7806236	Standard	NM_004419		Approved	HVH3	uc001kzd.3	Q16690	OTTHUMG00000019040	ENST00000369583.3:c.769G>A	10.37:g.112269798G>A	ENSP00000358596:p.Gly257Ser						p.G257S	NM_004419	NP_004410	Q16690	DUS5_HUMAN		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)	3	1024	+		Breast(234;0.0848)	257			Tyrosine-protein phosphatase.		Q12997|Q5T603	Missense_Mutation	SNP	ENST00000369583.3	37	c.769G>A	CCDS7566.1	.	.	.	.	.	.	.	.	.	.	G	30	5.051714	0.93793	0.0	1.16E-4	ENSG00000138166	ENST00000369583	T	0.64991	-0.13	6.08	5.16	0.70880	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.044236	0.85682	D	0.000000	T	0.78130	0.4235	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.80542	-0.1336	10	0.62326	D	0.03	.	15.7413	0.77899	0.0:0.0:0.8626:0.1374	.	257	Q16690	DUS5_HUMAN	S	257	ENSP00000358596:G257S	ENSP00000358596:G257S	G	+	1	0	DUSP5	112259788	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.004000	0.88535	1.534000	0.49203	0.655000	0.94253	GGC		0.512	DUSP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050333.1	NM_004419	
HABP2	3026	broad.mit.edu	37	10	115341658	115341658	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr10:115341658C>A	ENST00000351270.3	+	9	958	c.862C>A	c.(862-864)Ccc>Acc	p.P288T	HABP2_ENST00000541666.1_Intron|HABP2_ENST00000542051.1_Missense_Mutation_p.P262T	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	288					cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	AGAGGAAAGCCCCACTGAGCC	0.507																																						uc001lai.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23						c.(862-864)Ccc>Acc		Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA.							135.0	135.0	135.0					10																	115341658		2203	4300	6503	SO:0001583	missense	3026				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity	g.chr10:115341658C>A		CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"""plasma hyaluronan binding protein"", ""factor VII activating protein"""	603924	"""hyaluronan-binding protein 2"""			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073	ENST00000351270.3:c.862C>A	10.37:g.115341658C>A	ENSP00000277903:p.Pro288Thr					HABP2_uc021pyr.1_Missense_Mutation_p.P262T|HABP2_uc010qrz.1_Intron	p.P288T	NM_004132	NP_001171131	Q14520	HABP2_HUMAN		Epithelial(162;0.00319)|all cancers(201;0.0112)	8	965	+		Colorectal(252;0.0233)|Breast(234;0.0672)	288					A8K467|B7Z8U5|F5H5M6|O00663	Missense_Mutation	SNP	ENST00000351270.3	37	c.862C>A	CCDS7577.1	.	.	.	.	.	.	.	.	.	.	C	8.004	0.755954	0.15846	.	.	ENSG00000148702	ENST00000542051;ENST00000351270	D;D	0.87650	-2.28;-2.28	5.97	4.11	0.48088	Kringle-like fold (1);	0.553095	0.20871	N	0.084176	T	0.80989	0.4730	L	0.53249	1.67	0.09310	N	0.999995	B	0.24368	0.102	B	0.18263	0.021	T	0.66006	-0.6030	10	0.25106	T	0.35	.	6.6414	0.22911	0.146:0.706:0.0:0.148	.	288	Q14520	HABP2_HUMAN	T	262;288	ENSP00000443283:P262T;ENSP00000277903:P288T	ENSP00000277903:P288T	P	+	1	0	HABP2	115331648	0.721000	0.28007	0.012000	0.15200	0.041000	0.13682	3.847000	0.55895	0.841000	0.35020	0.655000	0.94253	CCC		0.507	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050428.1	NM_004132	
OR5B3	441608	broad.mit.edu	37	11	58170350	58170350	+	Missense_Mutation	SNP	T	T	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr11:58170350T>A	ENST00000309403.2	-	1	532	c.533A>T	c.(532-534)gAt>gTt	p.D178V		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	178						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGCTGGAATATCACAGAAAAA	0.423																																						uc010rkf.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34						c.(532-534)gAt>gTt		Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA.							100.0	94.0	96.0					11																	58170350		2201	4295	6496	SO:0001583	missense	441608				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58170350T>A	AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"""GPCR / Class A : Olfactory receptors"""	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.533A>T	11.37:g.58170350T>A	ENSP00000308270:p.Asp178Val						p.D178V	NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN			0	533	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	178					Q6IEV6	Missense_Mutation	SNP	ENST00000309403.2	37	c.533A>T	CCDS31549.1	.	.	.	.	.	.	.	.	.	.	t	11.96	1.795839	0.31777	.	.	ENSG00000172769	ENST00000309403	T	0.00193	8.58	4.05	4.05	0.47172	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000138	T	0.00815	0.0027	H	0.95504	3.68	0.50171	D	0.999856	D	0.89917	1.0	D	0.85130	0.997	T	0.53906	-0.8372	10	0.87932	D	0	-50.0067	12.2401	0.54538	0.0:0.0:0.0:1.0	.	178	Q8NH48	OR5B3_HUMAN	V	178	ENSP00000308270:D178V	ENSP00000308270:D178V	D	-	2	0	OR5B3	57926926	1.000000	0.71417	0.954000	0.39281	0.150000	0.21749	3.829000	0.55760	1.835000	0.53391	0.528000	0.53228	GAT		0.423	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469	
CASP1	834	broad.mit.edu	37	11	104899923	104899923	+	Nonsense_Mutation	SNP	C	C	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr11:104899923C>A	ENST00000533400.1	-	7	969	c.934G>T	c.(934-936)Gag>Tag	p.E312*	CASP1_ENST00000393136.4_Nonsense_Mutation_p.E291*|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000436863.3_Nonsense_Mutation_p.E312*|CASP1_ENST00000527979.1_Nonsense_Mutation_p.E275*|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000526568.1_Nonsense_Mutation_p.E219*|CASP1_ENST00000528974.1_Nonsense_Mutation_p.E273*|CASP1_ENST00000525825.1_Nonsense_Mutation_p.E291*|CASP1_ENST00000598974.1_Nonsense_Mutation_p.E312*|CASP1_ENST00000593315.1_Nonsense_Mutation_p.E291*|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000415981.2_Intron	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	312					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	TCCTCAAACTCTTCTGTAGTT	0.408																																					NSCLC(41;1246 1743 4934)	uc001pim.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(934-936)Gag>Tag		Homo sapiens caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase) (CASP1), transcript variant alpha, mRNA.	Minocycline(DB01017)|Penicillamine(DB00859)						101.0	93.0	95.0					11																	104899923		2202	4299	6501	SO:0001587	stop_gained	834				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	g.chr11:104899923C>A	U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"""Caspases"""	1499	protein-coding gene	gene with protein product	"""caspase-1"", ""interleukin 1, beta, convertase"""	147678	"""caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)"", ""caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"""	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.934G>T	11.37:g.104899923C>A	ENSP00000433138:p.Glu312*					CASP1_uc001pig.3_Nonsense_Mutation_p.E219*|CASP1_uc021qpq.1_Nonsense_Mutation_p.E291*|CASP1_uc021qpr.1_Intron|CASP1_uc021qps.1_Intron|CASP1_uc021qpp.1_Nonsense_Mutation_p.E312*|CASP1_uc021qpt.1_Nonsense_Mutation_p.E219*|CASP1_uc010rve.2_Nonsense_Mutation_p.E312*|CASP1_uc010rvf.2_Nonsense_Mutation_p.E219*|CASP1_uc010rvg.2_Nonsense_Mutation_p.E291*|CASP1_uc010rvh.2_Intron|CASP1_uc010rvi.2_Intron|CASP1_uc009yxi.3_Nonsense_Mutation_p.E291*|CASP1_uc021qpu.1_Nonsense_Mutation_p.E219*|CASP1_uc021qpv.1_Nonsense_Mutation_p.E291*|CASP1_uc021qpw.1_Intron|CASP1_uc021qpx.1_Intron|CASP1_uc010rvj.2_Nonsense_Mutation_p.E312*|CASP1_uc009yxj.3_Nonsense_Mutation_p.E157*|CASP1_uc010rvk.2_Nonsense_Mutation_p.E273*	p.E312*	NM_033292	NP_150634	P29466	CASP1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	6	934	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	312					B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Nonsense_Mutation	SNP	ENST00000533400.1	37	c.934G>T	CCDS8330.1	.	.	.	.	.	.	.	.	.	.	.	19.39	3.818962	0.71028	.	.	ENSG00000137752	ENST00000532439;ENST00000526568;ENST00000527979;ENST00000533400;ENST00000436863;ENST00000393136;ENST00000525825;ENST00000528974	.	.	.	3.12	2.2	0.27929	.	1.010960	0.07938	N	0.978781	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	8.661	0.34093	0.0:0.8808:0.0:0.1192	.	.	.	.	X	161;219;275;312;312;291;291;273	.	ENSP00000376844:E291X	E	-	1	0	CASP1	104405133	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.758000	0.26447	0.888000	0.36160	0.557000	0.71058	GAG		0.408	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388116.1	NM_033292	
OR8D1	283159	broad.mit.edu	37	11	124179842	124179842	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr11:124179842G>A	ENST00000357821.2	-	1	891	c.821C>T	c.(820-822)tCc>tTc	p.S274F		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GAACACAGAGGACACCTTCTC	0.463																																						uc010sag.2																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(820-822)tCc>tTc		Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.							111.0	106.0	108.0					11																	124179842		2201	4299	6500	SO:0001583	missense	283159				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124179842G>A	AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"""GPCR / Class A : Olfactory receptors"""	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.821C>T	11.37:g.124179842G>A	ENSP00000350474:p.Ser274Phe						p.S274F	NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	0	821	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	274					B2RNL4|Q6IEW1|Q8NGH0	Missense_Mutation	SNP	ENST00000357821.2	37	c.821C>T	CCDS31706.1	.	.	.	.	.	.	.	.	.	.	g	8.889	0.953441	0.18431	.	.	ENSG00000196341	ENST00000357821	T	0.34859	1.34	4.29	2.37	0.29283	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36066	U	0.002801	T	0.32466	0.0830	N	0.05330	-0.07	0.09310	N	1	D	0.69078	0.997	D	0.72075	0.976	T	0.03684	-1.1013	10	0.66056	D	0.02	.	6.0217	0.19632	0.4262:0.0:0.5738:0.0	.	274	Q8WZ84	OR8D1_HUMAN	F	274	ENSP00000350474:S274F	ENSP00000350474:S274F	S	-	2	0	OR8D1	123685052	0.000000	0.05858	0.123000	0.21794	0.002000	0.02628	0.155000	0.16362	1.041000	0.40125	-0.363000	0.07495	TCC		0.463	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387285.1	NM_001002917	
OR8B4	283162	broad.mit.edu	37	11	124294437	124294439	+	In_Frame_Del	DEL	ACT	ACT	-			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr11:124294437_124294439delACT	ENST00000356130.3	-	1	350_352	c.329_331delAGT	c.(328-333)gagtgc>ggc	p.110_111EC>G		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AACACATAGCACTCAGAATTGAC	0.433																																						uc010sak.2																			0		p.S109F(1)		endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32						c.(328-333)gagtgc>ggc		Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA.																																				SO:0001651	inframe_deletion	283162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124294437_124294439delACT	AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"""GPCR / Class A : Olfactory receptors"""	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.329_331delAGT	11.37:g.124294437_124294439delACT	ENSP00000348449:p.Glu110_Cys111delinsGly						p.110_111EC>G	NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	0	329_331	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	110					B2RNF8|Q6IFQ7	In_Frame_Del	DEL	ENST00000356130.3	37	c.329_331delAGT	CCDS31710.1																																																																																				0.433	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387055.1	NM_001005196	
DYRK4	8798	broad.mit.edu	37	12	4708241	4708241	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr12:4708241G>A	ENST00000540757.2	+	7	768	c.608G>A	c.(607-609)aGt>aAt	p.S203N	DYRK4_ENST00000543431.1_Missense_Mutation_p.S203N|DYRK4_ENST00000010132.5_Missense_Mutation_p.S203N	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	203	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			CAAGGCTTCAGTCTGTCCATA	0.413																																						uc009zeh.1																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(952-954)aGt>aAt		Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA.							161.0	154.0	156.0					12																	4708241		2203	4300	6503	SO:0001583	missense	8798					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:4708241G>A	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.608G>A	12.37:g.4708241G>A	ENSP00000441755:p.Ser203Asn					DYRK4_uc001qmx.3_Missense_Mutation_p.S203N|DYRK4_uc001qmy.2_Missense_Mutation_p.S203N|DYRK4_uc021qtq.1_Missense_Mutation_p.S57N	p.S318N	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		8	995	+			203			Protein kinase.		A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	ENST00000540757.2	37	c.953G>A	CCDS8530.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.818036	0.50633	.	.	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.29	4.39	0.52855	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.044789	0.85682	N	0.000000	T	0.17916	0.0430	N	0.21194	0.64	0.80722	D	1	B;B;B	0.11235	0.004;0.001;0.001	B;B;B	0.15484	0.007;0.005;0.013	T	0.03423	-1.1038	10	0.59425	D	0.04	.	10.4459	0.44495	0.0752:0.1341:0.7907:0.0	.	318;203;203	F5H6L9;Q9NR20-2;Q9NR20	.;.;DYRK4_HUMAN	N	318;203;203;203	ENSP00000437534:S318N;ENSP00000441755:S203N;ENSP00000010132:S203N;ENSP00000439697:S203N	ENSP00000010132:S203N	S	+	2	0	DYRK4	4578502	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.662000	0.83803	1.193000	0.43086	0.555000	0.69702	AGT		0.413	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2		
RPL13AP20	387841	broad.mit.edu	37	12	13028751	13028751	+	IGR	SNP	G	G	C	rs199863259		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr12:13028751G>C								DDX47 (45836 upstream) : GPRC5A (14964 downstream)																							GGTGTTTGACGGCATCCCACC	0.612																																						uc010sho.2																			0											c.(319-321)Ggc>Cgc		Homo sapiens ribosomal protein L13a pseudogene 20 (RPL13AP20), non-coding RNA.																																				SO:0001628	intergenic_variant	387841							g.chr12:13028751G>C																													12.37:g.13028751G>C							p.G107R							0	341	+									Missense_Mutation	SNP		37	c.319G>C																																																																																				0	0.612								
PIK3C2G	5288	broad.mit.edu	37	12	18658296	18658296	+	Missense_Mutation	SNP	G	G	A	rs371412006		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr12:18658296G>A	ENST00000266497.5	+	22	3139	c.3101G>A	c.(3100-3102)cGt>cAt	p.R1034H	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.R1075H|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.R1034H			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1034	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)	p.R1034H(2)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GTATGTGACCGTCACAATGAT	0.398													G|||	1	0.000199681	0.0	0.0	5008	,	,		17323	0.0		0.0	False		,,,				2504	0.001					uc001rdt.3																			2	Substitution - Missense(2)	p.R1034H(3)	prostate(2)	breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66						c.(3100-3102)cGt>cAt		Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.		G	HIS/ARG	0,3854		0,0,1927	125.0	108.0	114.0		3101	4.5	1.0	12		114	3,8307		0,3,4152	no	missense	PIK3C2G	NM_004570.4	29	0,3,6079	AA,AG,GG		0.0361,0.0,0.0247	probably-damaging	1034/1446	18658296	3,12161	1927	4155	6082	SO:0001583	missense	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18658296G>A	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.3101G>A	12.37:g.18658296G>A	ENSP00000266497:p.Arg1034His					PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.R1075H|PIK3C2G_uc010sic.2_Missense_Mutation_p.R853H	p.R1034H	NM_004570	NP_004561	O75747	P3C2G_HUMAN			22	3217	+		Hepatocellular(102;0.194)	1034			PI3K/PI4K.		A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	c.3101G>A	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.880028	0.91740	0.0	3.61E-4	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	D;D;D	0.98914	-5.23;-5.23;-5.23	4.47	4.47	0.54385	Protein kinase-like domain (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.135869	0.50627	D	0.000108	D	0.99477	0.9814	H	0.97240	3.965	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97988	1.0353	10	0.87932	D	0	-15.9827	17.403	0.87465	0.0:0.0:1.0:0.0	.	1074;1075;1034	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	H	1034;1034;1075	ENSP00000404845:R1034H;ENSP00000266497:R1034H;ENSP00000445381:R1075H	ENSP00000266497:R1034H	R	+	2	0	PIK3C2G	18549563	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.524000	0.98036	2.771000	0.95319	0.650000	0.86243	CGT		0.398	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570	
ALX1	8092	broad.mit.edu	37	12	85695206	85695206	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr12:85695206C>T	ENST00000316824.3	+	4	1089	c.934C>T	c.(934-936)Cga>Tga	p.R312*		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	312					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		CGCAGTTCTTCGAATGAAAGC	0.378																																						uc001tae.4																			0		p.R312Q(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26						c.(934-936)Cga>Tga		Homo sapiens ALX homeobox 1 (ALX1), mRNA.							90.0	87.0	88.0					12																	85695206		2203	4300	6503	SO:0001587	stop_gained	8092				brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:85695206C>T	U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"""Homeoboxes / PRD class"""	1494	protein-coding gene	gene with protein product		601527	"""cartilage paired-class homeoprotein 1"""	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.934C>T	12.37:g.85695206C>T	ENSP00000315417:p.Arg312*						p.R312*	NM_006982	NP_008913	Q15699	ALX1_HUMAN		GBM - Glioblastoma multiforme(134;0.134)	3	938	+			312					Q546C8|Q96FH4	Nonsense_Mutation	SNP	ENST00000316824.3	37	c.934C>T	CCDS9028.1	.	.	.	.	.	.	.	.	.	.	C	33	5.266449	0.95399	.	.	ENSG00000180318	ENST00000316824	.	.	.	6.17	5.26	0.73747	.	0.116529	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.5537	0.84479	0.1352:0.8648:0.0:0.0	.	.	.	.	X	312	.	ENSP00000315417:R312X	R	+	1	2	ALX1	84219337	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.576000	0.60915	1.564000	0.49628	0.655000	0.94253	CGA		0.378	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982	
ACACB	32	broad.mit.edu	37	12	109687832	109687832	+	Missense_Mutation	SNP	G	G	A	rs182648370		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr12:109687832G>A	ENST00000338432.7	+	41	5832	c.5713G>A	c.(5713-5715)Gtg>Atg	p.V1905M	ACACB_ENST00000377854.5_Missense_Mutation_p.V1835M|ACACB_ENST00000377848.3_Missense_Mutation_p.V1905M|ACACB_ENST00000543201.1_Missense_Mutation_p.V571M			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1905	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TGGCTTGGGCGTGGAGAATCT	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		17992	0.0		0.001	False		,,,				2504	0.0					uc001tob.3																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(5713-5715)Gtg>Atg		Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	Biotin(DB00121)	G	MET/VAL	0,4406		0,0,2203	156.0	145.0	149.0		5713	3.8	1.0	12		149	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACACB	NM_001093.3	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1905/2459	109687832	1,13005	2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109687832G>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.5713G>A	12.37:g.109687832G>A	ENSP00000341044:p.Val1905Met					ACACB_uc001toc.3_Missense_Mutation_p.V1905M|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Missense_Mutation_p.V571M	p.V1905M	NM_001093	NP_001084	O00763	ACACB_HUMAN			40	5832	+			1905			Carboxyltransferase.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.5713G>A	CCDS31898.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.54	2.564832	0.45694	0.0	1.16E-4	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201;ENST00000396233	D;D;D;D	0.98234	-4.81;-4.81;-4.81;-4.81	5.58	3.77	0.43336	Carboxyl transferase (1);Acetyl-coenzyme A carboxyltransferase, N-terminal (1);	0.119890	0.56097	N	0.000031	D	0.98324	0.9444	H	0.95079	3.62	0.80722	D	1	P	0.40731	0.728	B	0.41236	0.351	D	0.97670	1.0166	10	0.87932	D	0	.	12.6349	0.56677	0.1345:0.0:0.8655:0.0	.	1905	O00763	ACACB_HUMAN	M	1905;1905;1835;1136;571;14	ENSP00000341044:V1905M;ENSP00000367079:V1905M;ENSP00000367085:V1835M;ENSP00000444075:V571M	ENSP00000341044:V1905M	V	+	1	0	ACACB	108172215	1.000000	0.71417	0.986000	0.45419	0.003000	0.03518	5.795000	0.69074	0.845000	0.35118	-0.136000	0.14681	GTG		0.493	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093	
GCN1L1	10985	broad.mit.edu	37	12	120582480	120582480	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr12:120582480G>A	ENST00000300648.6	-	41	5327	c.5315C>T	c.(5314-5316)aCt>aTt	p.T1772I		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1772					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CACATAAGGAGTAAACTTGTC	0.512																																						uc001txo.3																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(5314-5316)aCt>aTt		Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.							136.0	136.0	136.0					12																	120582480		2003	4173	6176	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120582480G>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.5315C>T	12.37:g.120582480G>A	ENSP00000300648:p.Thr1772Ile						p.T1772I	NM_006836	NP_006827	Q92616	GCN1L_HUMAN			40	5328	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1772					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.5315C>T	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092034	0.55968	.	.	ENSG00000089154	ENST00000300648	T	0.64618	-0.11	5.95	5.95	0.96441	Armadillo-like helical (1);Armadillo-type fold (1);	0.047409	0.85682	D	0.000000	T	0.55194	0.1905	L	0.41824	1.3	0.80722	D	1	B	0.09022	0.002	B	0.14023	0.01	T	0.47837	-0.9086	10	0.40728	T	0.16	.	15.517	0.75833	0.0676:0.0:0.9324:0.0	.	1772	Q92616	GCN1L_HUMAN	I	1772	ENSP00000300648:T1772I	ENSP00000300648:T1772I	T	-	2	0	GCN1L1	119066863	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.406000	0.73276	2.824000	0.97209	0.655000	0.94253	ACT		0.512	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1		
ZC3H13	23091	broad.mit.edu	37	13	46549530	46549530	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr13:46549530G>A	ENST00000242848.4	-	12	2704	c.2356C>T	c.(2356-2358)Cgc>Tgc	p.R786C	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R786C			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	786	Arg/Glu-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCCCTTTGGCGTTCTCGTTCT	0.498																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	uc010tfw.1																			0		p.R786H(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(2356-2358)Cgc>Tgc		Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.							442.0	360.0	387.0					13																	46549530		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46549530G>A	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2356C>T	13.37:g.46549530G>A	ENSP00000242848:p.Arg786Cys					ZC3H13_uc001vas.1_Missense_Mutation_p.R786C|ZC3H13_uc001vat.1_Missense_Mutation_p.R786C	p.R786C	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	10	2362	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	786			Arg/Glu-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.2356C>T		.	.	.	.	.	.	.	.	.	.	G	12.15	1.851960	0.32699	.	.	ENSG00000123200	ENST00000242848;ENST00000282007	T;T	0.38722	2.11;1.12	5.38	5.38	0.77491	.	0.000000	0.52532	D	0.000075	T	0.63200	0.2491	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.67231	0.818;0.95	T	0.61917	-0.6964	9	0.40728	T	0.16	.	17.6956	0.88281	0.0:0.0:1.0:0.0	.	786;786	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	C	786	ENSP00000242848:R786C;ENSP00000282007:R786C	ENSP00000242848:R786C	R	-	1	0	ZC3H13	45447531	1.000000	0.71417	0.438000	0.26821	0.841000	0.47740	6.231000	0.72307	2.526000	0.85167	0.313000	0.20887	CGC		0.498	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070	
PCID2	55795	broad.mit.edu	37	13	113834511	113834511	+	Missense_Mutation	SNP	T	T	A	rs193206568		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr13:113834511T>A	ENST00000337344.4	-	11	897	c.821A>T	c.(820-822)tAt>tTt	p.Y274F	PCID2_ENST00000375477.1_Missense_Mutation_p.Y274F|PCID2_ENST00000493650.1_5'UTR|PCID2_ENST00000246505.5_Missense_Mutation_p.Y328F|PCID2_ENST00000375457.2_Missense_Mutation_p.Y272F|PCID2_ENST00000375459.1_Missense_Mutation_p.Y272F|PCID2_ENST00000375479.2_Missense_Mutation_p.Y274F	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	274					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536)					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			CATCAGGTGATACTTTTTCAG	0.413																																						uc021rmt.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20						c.(982-984)tAt>tTt		Homo sapiens PCI domain containing 2 (PCID2), transcript variant 3, mRNA.							129.0	124.0	126.0					13																	113834511		2203	4300	6503	SO:0001583	missense	55795				negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding	g.chr13:113834511T>A	AK002167	CCDS9532.2, CCDS58301.1, CCDS58302.1	13q34	2006-03-31			ENSG00000126226	ENSG00000126226			25653	protein-coding gene	gene with protein product		613713				12477932	Standard	NM_001127203		Approved	FLJ11305	uc031qnm.1	Q5JVF3	OTTHUMG00000017385	ENST00000337344.4:c.821A>T	13.37:g.113834511T>A	ENSP00000337405:p.Tyr274Phe					PCID2_uc001vtb.2_Missense_Mutation_p.Y107F|PCID2_uc021rmq.1_Missense_Mutation_p.Y274F|PCID2_uc021rmr.1_Missense_Mutation_p.Y274F|PCID2_uc021rms.1_Missense_Mutation_p.Y274F	p.Y328F	NM_018386	NP_060856	Q5JVF3	PCID2_HUMAN	all cancers(43;0.104)		10	1064	-	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	274			PCI.		A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	Missense_Mutation	SNP	ENST00000337344.4	37	c.983A>T	CCDS9532.2	.	.	.	.	.	.	.	.	.	.	T	19.85	3.903144	0.72754	.	.	ENSG00000126226	ENST00000337344;ENST00000375479;ENST00000375477;ENST00000246505;ENST00000375459;ENST00000375457;ENST00000375462;ENST00000246506;ENST00000351317	.	.	.	5.85	4.62	0.57501	PCI/PINT associated module (1);	0.000000	0.85682	D	0.000000	T	0.62974	0.2472	L	0.52759	1.655	0.80722	D	1	D;P	0.53312	0.959;0.773	P;P	0.58210	0.835;0.456	T	0.57254	-0.7843	9	0.15952	T	0.53	-28.3082	13.2496	0.60043	0.0:0.0:0.132:0.868	.	328;274	Q5JVF3-4;Q5JVF3	.;PCID2_HUMAN	F	274;274;274;328;272;272;251;274;251	.	ENSP00000246505:Y328F	Y	-	2	0	PCID2	112882512	1.000000	0.71417	1.000000	0.80357	0.202000	0.24057	5.948000	0.70249	2.233000	0.73108	0.533000	0.62120	TAT		0.413	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045897.1	NM_018386	
OR4E2	26686	broad.mit.edu	37	14	22134222	22134222	+	Missense_Mutation	SNP	C	C	T	rs376029887		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr14:22134222C>T	ENST00000408935.1	+	1	926	c.926C>T	c.(925-927)aCg>aTg	p.T309M		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	309						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)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		GTTTTTTTCACGAAATCATAT	0.393																																						uc010tmd.2																			0		p.T309T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15						c.(925-927)aCg>aTg		Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.							33.0	30.0	31.0					14																	22134222		1924	4142	6066	SO:0001583	missense	26686				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22134222C>T		CCDS41916.1	14q11.2	2013-09-23			ENSG00000221977	ENSG00000221977		"""GPCR / Class A : Olfactory receptors"""	8297	protein-coding gene	gene with protein product							Standard	NM_001001912		Approved		uc010tmd.2	Q8NGC2	OTTHUMG00000168979	ENST00000408935.1:c.926C>T	14.37:g.22134222C>T	ENSP00000386195:p.Thr309Met						p.T309M	NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN		GBM - Glioblastoma multiforme(265;0.0137)	0	926	+	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	309					Q6IET6|Q96R62	Missense_Mutation	SNP	ENST00000408935.1	37	c.926C>T	CCDS41916.1	.	.	.	.	.	.	.	.	.	.	c	1.122	-0.655064	0.03480	.	.	ENSG00000221977	ENST00000408935	T	0.11169	2.8	5.76	0.553	0.17235	.	.	.	.	.	T	0.06600	0.0169	N	0.19112	0.55	0.09310	N	0.999999	B	0.14805	0.011	B	0.06405	0.002	T	0.36601	-0.9741	9	0.42905	T	0.14	.	6.5188	0.22262	0.2067:0.1356:0.0:0.6577	.	309	Q8NGC2	OR4E2_HUMAN	M	309	ENSP00000386195:T309M	ENSP00000386195:T309M	T	+	2	0	OR4E2	21204062	0.003000	0.15002	0.163000	0.22734	0.253000	0.25986	-0.232000	0.09055	-0.079000	0.12707	-2.249000	0.00283	ACG		0.393	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401874.1		
JAG2	3714	broad.mit.edu	37	14	105622280	105622280	+	Silent	SNP	C	C	T	rs200966804	byFrequency	TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr14:105622280C>T	ENST00000331782.3	-	4	925	c.522G>A	c.(520-522)ccG>ccA	p.P174P	RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Silent_p.P174P	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	174					auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		AGCGGTCCTCCGGGTTGATCA	0.652													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16241	0.0		0.0	False		,,,				2504	0.0					uc001yqg.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(520-522)ccG>ccA		Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.		C	,	1,4399	2.1+/-5.4	0,1,2199	38.0	33.0	35.0		522,522	-8.7	0.6	14		35	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous,coding-synonymous	JAG2	NM_002226.3,NM_145159.1	,	0,2,6492	TT,TC,CC		0.0116,0.0227,0.0154	,	174/1239,174/1201	105622280	2,12986	2200	4294	6494	SO:0001819	synonymous_variant	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105622280C>T	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.522G>A	14.37:g.105622280C>T						JAG2_uc001yqh.3_Silent_p.P174P	p.P174P	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	3	926	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	174					Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Silent	SNP	ENST00000331782.3	37	c.522G>A	CCDS9998.1																																																																																				0.652	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2		
UNC13C	440279	broad.mit.edu	37	15	54786821	54786821	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr15:54786821G>A	ENST00000260323.11	+	19	4949	c.4949G>A	c.(4948-4950)cGg>cAg	p.R1650Q	UNC13C_ENST00000545554.1_Missense_Mutation_p.R1650Q|UNC13C_ENST00000537900.1_Missense_Mutation_p.R1648Q	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1650	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAAAATCAGCGGTTATGCAAG	0.308																																						uc021smr.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(4942-4944)cGg>cAg		Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.							82.0	76.0	77.0					15																	54786821		1809	4063	5872	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54786821G>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4949G>A	15.37:g.54786821G>A	ENSP00000260323:p.Arg1650Gln					UNC13C_uc021sms.1_Missense_Mutation_p.R1650Q	p.R1648Q	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	17	4943	+			1650			MHD1.		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.4943G>A	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	34	5.311890	0.95655	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.82526	-1.6;-1.62;-1.61	5.87	5.87	0.94306	Munc13 homology 1 (1);	0.000000	0.85682	D	0.000000	D	0.91761	0.7394	M	0.85197	2.74	0.58432	D	0.999993	D	0.89917	1.0	D	0.63957	0.92	D	0.91790	0.5443	10	0.62326	D	0.03	.	19.5705	0.95413	0.0:0.0:1.0:0.0	.	1650	Q8NB66	UN13C_HUMAN	Q	1650;1650;1648	ENSP00000260323:R1650Q;ENSP00000438156:R1650Q;ENSP00000442569:R1648Q	ENSP00000260323:R1650Q	R	+	2	0	UNC13C	52574113	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.716000	0.68437	2.941000	0.99782	0.655000	0.94253	CGG		0.308	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	
CSK	1445	broad.mit.edu	37	15	75092831	75092831	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr15:75092831G>A	ENST00000220003.9	+	6	1270	c.541G>A	c.(541-543)Gat>Aat	p.D181N	CSK_ENST00000309470.9_Missense_Mutation_p.D181N|CSK_ENST00000439220.2_Missense_Mutation_p.D181N|CSK_ENST00000567571.1_Missense_Mutation_p.D181N	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	181					adherens junction organization (GO:0034332)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cellular response to peptide hormone stimulus (GO:0071375)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of bone resorption (GO:0045779)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of kinase activity (GO:0033673)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of phagocytosis (GO:0050765)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein C-terminus binding (GO:0008022)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|lung(2)	3						GGCGGCCCAGGATGAGTTCTA	0.632											OREG0023291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010bkb.1																			0				central_nervous_system(1)|lung(2)	3						c.(541-543)Gat>Aat		Homo sapiens c-src tyrosine kinase (CSK), transcript variant 2, mRNA.							98.0	84.0	89.0					15																	75092831		2197	4296	6493	SO:0001583	missense	1445				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding	g.chr15:75092831G>A		CCDS10269.1	15q24.1	2013-02-14			ENSG00000103653	ENSG00000103653	2.7.10.1	"""SH2 domain containing"""	2444	protein-coding gene	gene with protein product		124095				1377109	Standard	NM_004383		Approved		uc010bka.3	P41240	OTTHUMG00000142814	ENST00000220003.9:c.541G>A	15.37:g.75092831G>A	ENSP00000220003:p.Asp181Asn		OREG0023291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1157	CSK_uc002ays.2_Missense_Mutation_p.D181N|CSK_uc010bkc.1_5'UTR	p.D181N	NM_001127190	NP_004374	P41240	CSK_HUMAN			6	724	+			181					Q2M3N2|Q6FGZ6	Missense_Mutation	SNP	ENST00000220003.9	37	c.541G>A	CCDS10269.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325748	0.81580	.	.	ENSG00000103653	ENST00000220003;ENST00000439220;ENST00000451345;ENST00000309470	T;T;T	0.75589	-0.95;-0.95;-0.95	5.35	5.35	0.76521	Protein kinase-like domain (1);SH2 motif (1);	0.000000	0.85682	D	0.000000	T	0.72859	0.3513	L	0.59436	1.845	0.80722	D	1	B	0.15719	0.014	B	0.08055	0.003	T	0.67845	-0.5565	10	0.44086	T	0.13	-22.1392	18.8481	0.92215	0.0:0.0:1.0:0.0	.	181	P41240	CSK_HUMAN	N	181;181;130;181	ENSP00000220003:D181N;ENSP00000414764:D181N;ENSP00000438808:D181N	ENSP00000220003:D181N	D	+	1	0	CSK	72879884	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.122000	0.94380	2.790000	0.95986	0.591000	0.81541	GAT		0.632	CSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286398.2	NM_004383	
ADAMTS7	11173	broad.mit.edu	37	15	79057006	79057006	+	Missense_Mutation	SNP	C	C	T	rs200895233	byFrequency	TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr15:79057006C>T	ENST00000388820.4	-	20	4520	c.4310G>A	c.(4309-4311)cGc>cAc	p.R1437H	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1437	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GGAGCTACAGCGCACCGGCCT	0.726													c|||	2	0.000399361	0.0	0.0029	5008	,	,		12781	0.0		0.0	False		,,,				2504	0.0					uc002bej.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(4309-4311)cGc>cAc		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.		C	HIS/ARG	1,4301		0,1,2150	11.0	13.0	12.0		4310	0.2	0.7	15		12	9,8515		0,9,4253	no	missense	ADAMTS7	NM_014272.3	29	0,10,6403	TT,TC,CC		0.1056,0.0232,0.078	probably-damaging	1437/1687	79057006	10,12816	2151	4262	6413	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79057006C>T	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.4310G>A	15.37:g.79057006C>T	ENSP00000373472:p.Arg1437His						p.R1437H	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN			19	4521	-			1437			TSP type-1 5.		Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.4310G>A	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	c	17.07	3.294784	0.60086	2.32E-4	0.001056	ENSG00000136378	ENST00000388820	T	0.54866	0.55	4.47	0.248	0.15526	.	0.551628	0.19377	N	0.115750	T	0.55114	0.1900	L	0.60904	1.88	0.27873	N	0.939978	D	0.71674	0.998	P	0.58577	0.841	T	0.52253	-0.8600	10	0.14252	T	0.57	.	8.4946	0.33121	0.0:0.6514:0.0:0.3486	.	1437	Q9UKP4	ATS7_HUMAN	H	1437	ENSP00000373472:R1437H	ENSP00000373472:R1437H	R	-	2	0	ADAMTS7	76844061	0.004000	0.15560	0.719000	0.30619	0.478000	0.33099	-0.361000	0.07612	0.019000	0.15079	0.472000	0.43445	CGC		0.726	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272	
ALPK3	57538	broad.mit.edu	37	15	85383056	85383056	+	Silent	SNP	C	C	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr15:85383056C>T	ENST00000258888.5	+	5	1319	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	384					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGCGCTGGTTCGCCAAGTTGA	0.617																																						uc002ble.3																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(1150-1152)ttC>ttT		Homo sapiens alpha-kinase 3 (ALPK3), mRNA.							70.0	66.0	67.0					15																	85383056		2203	4299	6502	SO:0001819	synonymous_variant	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85383056C>T	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.1152C>T	15.37:g.85383056C>T							p.F384F	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		4	1319	+			384					Q9P2L6	Silent	SNP	ENST00000258888.5	37	c.1152C>T	CCDS10333.1																																																																																				0.617	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778	
BLM	641	broad.mit.edu	37	15	91341566	91341566	+	Splice_Site	SNP	G	G	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr15:91341566G>A	ENST00000355112.3	+	17	3475	c.3357G>A	c.(3355-3357)ttG>ttA	p.L1119L	BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Splice_Site_p.L1119L	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1119					alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			ACATTTTCTTGGGTAAGTCAT	0.294			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													uc002bpr.3			yes	Rec		Bloom Syndrome	15	15q26.1	641	"""Mis, N, F"""	Bloom Syndrome			"""L, E"""		"""leukemia, lymphoma, skin squamous cell , other cancers"""			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.e17+1	Genes defective in diseases associated with sensitivity to DNA damaging agents	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.							122.0	123.0	123.0					15																	91341566		2198	4295	6493	SO:0001630	splice_region_variant	641	Bloom syndrome	Familial Cancer Database		double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	g.chr15:91341566G>A	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.3358+1G>A	15.37:g.91341566G>A						BLM_uc010uqh.2_Splice_Site_p.G1120_splice|BLM_uc010uqi.2_Splice_Site_p.G745_splice|BLM_uc010bnx.3_Splice_Site_p.E1120_splice	p.G1120_splice	NM_000057	NP_000048	P54132	BLM_HUMAN	Lung(145;0.189)		17	3455	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		1120					Q52M96	Silent	SNP	ENST00000355112.3	37	c.3358_splice	CCDS10363.1																																																																																				0.294	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1		Silent
MEF2A	4205	broad.mit.edu	37	15	100230604	100230604	+	Missense_Mutation	SNP	C	C	G	rs373219260		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr15:100230604C>G	ENST00000557785.1	+	8	1178	c.829C>G	c.(829-831)Cct>Gct	p.P277A	MEF2A_ENST00000557942.1_Missense_Mutation_p.P277A|MEF2A_ENST00000449277.2_Missense_Mutation_p.P209A|MEF2A_ENST00000354410.5_Missense_Mutation_p.P279A|MEF2A_ENST00000338042.6_Missense_Mutation_p.P277A|MEF2A_ENST00000558812.1_Missense_Mutation_p.P209A|MEF2A_ENST00000453228.2_Missense_Mutation_p.P277A	NM_001171894.1	NP_001165365.1	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	279	Required for interaction with MAPKs.				apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			TGTCATCCCCCCTTCAAGCAA	0.428																																						uc010urw.2																			0				endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12						c.(835-837)Cct>Gct		Homo sapiens myocyte enhancer factor 2A (MEF2A), transcript variant 1, mRNA.							56.0	55.0	55.0					15																	100230604		1901	4117	6018	SO:0001583	missense	4205				apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding	g.chr15:100230604C>G		CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"""Myocyte enhancer factors"""	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000557785.1:c.829C>G	15.37:g.100230604C>G	ENSP00000453441:p.Pro277Ala					MEF2A_uc002bve.3_Missense_Mutation_p.P277A|MEF2A_uc002bvg.3_Missense_Mutation_p.P277A|MEF2A_uc010urv.2_Missense_Mutation_p.P209A|MEF2A_uc010bos.3_Missense_Mutation_p.P277A|MEF2A_uc002bvf.3_Missense_Mutation_p.P279A|MEF2A_uc002bvi.3_Missense_Mutation_p.P277A|MEF2A_uc010bot.3_Missense_Mutation_p.P209A	p.P279A	NM_005587	NP_005578	Q02078	MEF2A_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00085)		6	1194	+	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		279		P -> L.	Required for interaction with MAPKs.		B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Missense_Mutation	SNP	ENST00000557785.1	37	c.835C>G	CCDS53978.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.776832	0.49786	.	.	ENSG00000068305	ENST00000453228;ENST00000354410;ENST00000338042;ENST00000449277	T;T;T;T	0.20738	2.05;2.05;2.05;2.05	5.85	4.94	0.65067	.	0.096997	0.64402	D	0.000001	T	0.45094	0.1325	M	0.66939	2.045	0.42398	D	0.992554	B;B;D;D;B;D	0.89917	0.019;0.189;0.999;1.0;0.032;0.999	B;B;D;D;B;D	0.91635	0.029;0.065;0.991;0.999;0.065;0.996	T	0.46233	-0.9206	10	0.66056	D	0.02	-11.2521	14.5191	0.67840	0.0:0.9302:0.0:0.0698	.	279;209;198;277;279;277	Q02078;B4DFQ7;Q7Z6C9;Q02078-6;Q02078-5;Q02078-2	MEF2A_HUMAN;.;.;.;.;.	A	277;279;277;209	ENSP00000404110:P277A;ENSP00000346389:P279A;ENSP00000337202:P277A;ENSP00000399460:P209A	ENSP00000337202:P277A	P	+	1	0	MEF2A	98048127	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.658000	0.61497	1.478000	0.48253	0.650000	0.86243	CCT		0.428	MEF2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415985.1		
DNM1P47	100216544	broad.mit.edu	37	15	102292811	102292811	+	RNA	SNP	C	C	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr15:102292811C>A	ENST00000561463.1	+	0	857									DNM1 pseudogene 47									p.R133R(1)									CCTGCACTCGCGTGGGAACGA	0.607																																						uc010usj.2																			1	Substitution - coding silent(1)	p.R133R(1)	prostate(1)								c.(397-399)cgC>cgA		Homo sapiens cDNA clone IMAGE:40009338.																																						100216544							g.chr15:102292811C>A	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292811C>A						DQ597539_uc002bxo.3_Non-coding_Transcript|DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank|DQ588425_uc002byr.3_5'Flank	p.R133R							3	458	+									Silent	SNP	ENST00000561463.1	37	c.399C>A																																																																																					0.607	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149	
ACSM2A	123876	broad.mit.edu	37	16	20494409	20494409	+	Silent	SNP	G	G	A	rs201744736		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr16:20494409G>A	ENST00000573854.1	+	13	1653	c.1539G>A	c.(1537-1539)tcG>tcA	p.S513S	ACSM2A_ENST00000219054.6_Silent_p.S513S|ACSM2A_ENST00000536134.1_Silent_p.S285S|ACSM2A_ENST00000396104.2_Silent_p.S513S|ACSM2A_ENST00000417235.2_Silent_p.S434S|ACSM2A_ENST00000575690.1_Silent_p.S513S	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	513			S -> L (in dbSNP:rs1133607). {ECO:0000269|PubMed:10493829, ECO:0000269|PubMed:12654705, ECO:0000269|PubMed:16521160}.		fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TCCTGGCCTCGCAGTTCCTGT	0.498																																						uc010bwe.3																			0		p.S513P(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						c.(1537-1539)tcG>tcA		Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	198.0	176.0	184.0		1539	-6.5	1.0	16		184	0,8600		0,0,4300	no	coding-synonymous	ACSM2A	NM_001010845.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		513/578	20494409	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20494409G>A	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1539G>A	16.37:g.20494409G>A						ACSM2A_uc002dhf.4_Silent_p.S513S|ACSM2A_uc002dhg.4_Silent_p.S513S|ACSM2A_uc010vay.2_Silent_p.S434S|ACSM2A_uc002dhh.4_Silent_p.S143S	p.S513S	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			13	1778	+			513		S -> L (in dbSNP:rs1133607).			B3KTT9|O75202	Silent	SNP	ENST00000573854.1	37	c.1539G>A	CCDS32401.1																																																																																				0.498	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845	
CDH5	1003	broad.mit.edu	37	16	66432371	66432371	+	Missense_Mutation	SNP	A	A	C	rs375598428		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr16:66432371A>C	ENST00000341529.3	+	10	1646	c.1498A>C	c.(1498-1500)Atc>Ctc	p.I500L	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	500	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	GGTCCTGCAGATCTCCGCAAT	0.493																																						uc002eom.4																			0				central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(1498-1500)Atc>Ctc		Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.							143.0	121.0	128.0					16																	66432371		2201	4300	6501	SO:0001583	missense	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66432371A>C	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.1498A>C	16.37:g.66432371A>C	ENSP00000344115:p.Ile500Leu						p.I500L	NM_001795	NP_001786	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	9	1654	+		Ovarian(137;0.0955)	500			Cadherin 5.		Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	c.1498A>C	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.029462	0.75504	.	.	ENSG00000179776	ENST00000341529;ENST00000379531;ENST00000539262	T	0.47177	0.85	4.95	4.95	0.65309	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.42471	0.1204	L	0.28400	0.85	0.80722	D	1	B	0.27910	0.193	B	0.38194	0.267	T	0.40496	-0.9560	9	0.46703	T	0.11	.	12.1099	0.53834	1.0:0.0:0.0:0.0	.	500	P33151	CADH5_HUMAN	L	500;385;241	ENSP00000344115:I500L	ENSP00000344115:I500L	I	+	1	0	CDH5	64989872	1.000000	0.71417	0.983000	0.44433	0.995000	0.86356	4.544000	0.60691	2.093000	0.63338	0.459000	0.35465	ATC		0.493	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795	
NF1	4763	broad.mit.edu	37	17	29556484	29556484	+	Splice_Site	SNP	G	G	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr17:29556484G>A	ENST00000358273.4	+	21	3233		c.e21+1		NF1_ENST00000356175.3_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(7)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCAAGGACAGGTAAAGTGTTC	0.343			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	15	Whole gene deletion(8)|Unknown(7)	p.0?(8)|p.?(7)	soft_tissue(10)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599	GRCh37	CS031788|CS086413	NF1	S		c.e21+1		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.							74.0	77.0	76.0					17																	29556484		2200	4297	6497	SO:0001630	splice_region_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29556484G>A		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2850+1G>A	17.37:g.29556484G>A		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.3_Splice_Site_p.Q950_splice|NF1_uc010csn.2_Splice_Site_p.Q810_splice|NF1_uc002hgi.1_5'UTR	p.Q950_splice	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	21	3233	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	950					O00662|Q14284|Q14930|Q14931|Q9UMK3	Splice_Site	SNP	ENST00000358273.4	37	c.2850_splice	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073877	0.76415	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3532	0.94398	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NF1	26580610	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.434000	0.97515	2.594000	0.87642	0.455000	0.32223	.		0.343	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	Intron
NF1	4763	broad.mit.edu	37	17	29683590	29683590	+	Frame_Shift_Del	DEL	T	T	-			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr17:29683590delT	ENST00000358273.4	+	52	8111	c.7728delT	c.(7726-7728)gatfs	p.D2576fs	NF1_ENST00000417592.2_3'UTR|NF1_ENST00000444181.2_Frame_Shift_Del_p.D369fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.D2555fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2576					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CAGAAACTGATTATGAAATGG	0.378			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(7726-7728)gatfs		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.							84.0	71.0	75.0					17																	29683590		2203	4300	6503	SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29683590delT		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7728delT	17.37:g.29683590delT	ENSP00000351015:p.Asp2576fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.3_Frame_Shift_Del_p.D2555fs|NF1_uc010cso.3_Frame_Shift_Del_p.D764fs|NF1_uc010wbt.1_Frame_Shift_Del_p.D54fs|NF1_uc010wbu.1_Non-coding_Transcript	p.D2576fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	51	8111	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2576					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.7728delT	CCDS42292.1																																																																																				0.378	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
RAB11FIP4	84440	broad.mit.edu	37	17	29850996	29850997	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr17:29850996_29850997delAC	ENST00000325874.8	+	9	1344_1345	c.1115_1116delAC	c.(1114-1116)aacfs	p.N372fs	RAB11FIP4_ENST00000394744.2_Frame_Shift_Del_p.N270fs	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	372	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032)	cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				AAGCAAGAGAACACACAGCTGG	0.599																																						uc002hgn.1																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1114-1116)aacfs		Homo sapiens RAB11 family interacting protein 4 (class II) (RAB11FIP4), mRNA.																																				SO:0001589	frameshift_variant	84440				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	g.chr17:29850996_29850997delAC	AB058724	CCDS11267.1	17q11.2	2013-01-10			ENSG00000131242	ENSG00000131242		"""EF-hand domain containing"""	30267	protein-coding gene	gene with protein product		611999				11347906, 11468690	Standard	NM_032932		Approved	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131	uc002hgn.1	Q86YS3	OTTHUMG00000132787	ENST00000325874.8:c.1115_1116delAC	17.37:g.29851000_29851001delAC	ENSP00000312837:p.Asn372fs					RAB11FIP4_uc002hgo.2_Frame_Shift_Del_p.N270fs	p.N372fs	NM_032932	NP_116321	Q86YS3	RFIP4_HUMAN			8	1344_1345	+		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)	372			Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.		Q52LI1|Q8N829|Q8NDT7|Q969D8	Frame_Shift_Del	DEL	ENST00000325874.8	37	c.1115_1116delAC	CCDS11267.1																																																																																				0.599	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256195.2	NM_032932	
ANKRD30B	374860	broad.mit.edu	37	18	14779969	14779969	+	Missense_Mutation	SNP	C	C	G	rs9675365	byFrequency	TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr18:14779969C>G	ENST00000358984.4	+	11	1611	c.1431C>G	c.(1429-1431)ttC>ttG	p.F477L	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.F477L	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	477			F -> L (in dbSNP:rs9675365).					p.F477L(2)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ATCAGATGTTCCCATCAGAAT	0.279													C|||	2332	0.465655	0.4773	0.4265	5008	,	,		15526	0.4187		0.5159	False		,,,				2504	0.4744					uc010dlo.2																			2	Substitution - Missense(2)	p.F477L(3)	prostate(2)	breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(1429-1431)ttC>ttG		Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.							167.0	153.0	157.0					18																	14779969		692	1591	2283	SO:0001583	missense	374860							g.chr18:14779969C>G	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.1431C>G	18.37:g.14779969C>G	ENSP00000351875:p.Phe477Leu					ANKRD30B_uc010xak.2_Non-coding_Transcript|ANKRD30B_uc021uhy.1_Missense_Mutation_p.F477L	p.F477L	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN			10	1611	+			477		F -> L (in dbSNP:rs9675365).			B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.1431C>G	CCDS54182.1	1018	0.4661172161172161	231	0.4695121951219512	157	0.43370165745856354	240	0.4195804195804196	390	0.5145118733509235	N	12.12	1.843849	0.32606	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.39406	1.08;1.4	1.69	-2.4	0.06583	.	.	.	.	.	T	0.00012	0.0000	L	0.47716	1.5	0.80722	P	0.0	B	0.30584	0.286	B	0.22753	0.041	T	0.48547	-0.9026	8	0.07990	T	0.79	.	0.2761	0.00238	0.3065:0.2974:0.1877:0.2084	rs9675365;rs52827349;rs59076177;rs9675365	477	F8WAG3	.	L	477	ENSP00000351875:F477L;ENSP00000399031:F477L	ENSP00000351875:F477L	F	+	3	2	ANKRD30B	14769969	0.988000	0.35896	0.000000	0.03702	0.155000	0.21991	0.095000	0.15127	-0.611000	0.05709	0.297000	0.19635	TTC		0.279	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029	
MISP	126353	broad.mit.edu	37	19	757476	757476	+	Missense_Mutation	SNP	G	G	A	rs377309090		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr19:757476G>A	ENST00000215582.6	+	2	633	c.530G>A	c.(529-531)cGg>cAg	p.R177Q		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	177					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											GGCCCACCTCGGTCCACGCCC	0.667																																						uc002lpo.3																			0		p.R177R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(529-531)cGg>cAg		Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.							18.0	22.0	21.0					19																	757476		2192	4295	6487	SO:0001583	missense	126353							g.chr19:757476G>A	BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"""mitotic interactor and substrate of Plk1"""	615289	"""chromosome 19 open reading frame 21"""	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.530G>A	19.37:g.757476G>A	ENSP00000215582:p.Arg177Gln						p.R177Q	NM_173481	NP_775752	Q8IVT2	CS021_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	613	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)	177						Missense_Mutation	SNP	ENST00000215582.6	37	c.530G>A	CCDS12042.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.262172	0.23051	.	.	ENSG00000099812	ENST00000215582	T	0.62788	0.0	3.87	-7.45	0.01374	.	4.722090	0.00913	N	0.002495	T	0.33059	0.0850	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.19321	-1.0309	10	0.20519	T	0.43	-0.4719	2.2606	0.04066	0.1941:0.3753:0.2943:0.1362	.	177	Q8IVT2	CS021_HUMAN	Q	177	ENSP00000215582:R177Q	ENSP00000215582:R177Q	R	+	2	0	C19orf21	708476	0.000000	0.05858	0.000000	0.03702	0.433000	0.31745	-2.133000	0.01308	-1.995000	0.00971	0.313000	0.20887	CGG		0.667	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457600.2	NM_173481	
REXO1	57455	broad.mit.edu	37	19	1827011	1827011	+	Missense_Mutation	SNP	C	C	G	rs201699355	byFrequency	TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr19:1827011C>G	ENST00000170168.4	-	2	1871	c.1777G>C	c.(1777-1779)Gcg>Ccg	p.A593P	CTB-31O20.4_ENST00000593201.1_RNA|REXO1_ENST00000587524.1_5'Flank|CTB-31O20.4_ENST00000587741.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	593						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCGCCCCCGCGCTggaggtg	0.697																																						uc002lua.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16						c.(1777-1779)Gcg>Ccg		Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.							8.0	6.0	6.0					19																	1827011		2146	4177	6323	SO:0001583	missense	57455					nucleus	exonuclease activity|nucleic acid binding	g.chr19:1827011C>G	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"""elongin A binding protein 1"""	609614	"""transcription elongation factor B polypeptide 3 binding protein 1"""	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.1777G>C	19.37:g.1827011C>G	ENSP00000170168:p.Ala593Pro					REXO1_uc010dsr.1_Missense_Mutation_p.A547P	p.A593P	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	1872	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	593					Q9ULT2	Missense_Mutation	SNP	ENST00000170168.4	37	c.1777G>C	CCDS32866.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.571145	0.28003	.	.	ENSG00000079313	ENST00000170168	T	0.22336	1.96	3.4	-3.61	0.04556	.	0.374687	0.19118	U	0.122249	T	0.05777	0.0151	N	0.08118	0	0.09310	N	1	P	0.43094	0.799	B	0.33339	0.162	T	0.34576	-0.9823	10	0.38643	T	0.18	-4.7851	3.216	0.06699	0.294:0.3539:0.0:0.352	.	593	Q8N1G1	REXO1_HUMAN	P	593	ENSP00000170168:A593P	ENSP00000170168:A593P	A	-	1	0	REXO1	1778011	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.220000	0.17660	-0.922000	0.03789	-0.693000	0.03709	GCG		0.697	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695	
FCER2	2208	broad.mit.edu	37	19	7763247	7763247	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr19:7763247C>T	ENST00000346664.5	-	4	397	c.185G>A	c.(184-186)cGg>cAg	p.R62Q	FCER2_ENST00000597921.1_Missense_Mutation_p.R62Q|FCER2_ENST00000360067.4_Missense_Mutation_p.R61Q	NM_001220500.1|NM_002002.4	NP_001207429.1|NP_001993.2	P06734	FCER2_HUMAN	Fc fragment of IgE, low affinity II, receptor for (CD23)	62			R -> W (in dbSNP:rs2228137).		Notch signaling pathway (GO:0007219)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						CATACCGTTCCGGGCAGCCCT	0.622																																						uc002mhn.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						c.(184-186)cGg>cAg		Homo sapiens Fc fragment of IgE, low affinity II, receptor for (CD23) (FCER2), transcript variant 3, mRNA.							93.0	71.0	79.0					19																	7763247		2203	4300	6503	SO:0001583	missense	2208				positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding	g.chr19:7763247C>T	M15059	CCDS12184.1	19p13.3	2011-08-30	2006-03-09			ENSG00000104921		"""C-type lectin domain containing"", ""CD molecules"""	3612	protein-coding gene	gene with protein product		151445	"""Fc fragment of IgE, low affinity II, receptor for (CD23A)"""	CD23A, FCE2			Standard	NM_002002		Approved	CLEC4J, CD23	uc002mhm.2	P06734		ENST00000346664.5:c.185G>A	19.37:g.7763247C>T	ENSP00000264072:p.Arg62Gln					FCER2_uc021unx.1_Missense_Mutation_p.R61Q|FCER2_uc002mhm.2_Missense_Mutation_p.R62Q|FCER2_uc010xjt.2_5'UTR|FCER2_uc010dvo.2_Missense_Mutation_p.R62Q	p.R62Q	NM_001220500	NP_001207429	P06734	FCER2_HUMAN			3	402	-			62		R -> W (in dbSNP:rs2228137).				Missense_Mutation	SNP	ENST00000346664.5	37	c.185G>A	CCDS12184.1	.	.	.	.	.	.	.	.	.	.	C	7.982	0.751447	0.15778	.	.	ENSG00000104921	ENST00000346664;ENST00000360067	T;T	0.02498	4.28;4.27	4.24	-7.69	0.01263	.	1.265470	0.06051	N	0.656637	T	0.00845	0.0028	N	0.01048	-1.04	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.46119	-0.9214	10	0.02654	T	1	.	8.2167	0.31516	0.1073:0.2642:0.0:0.6285	.	61;62	P06734-2;P06734	.;FCER2_HUMAN	Q	62;61	ENSP00000264072:R62Q;ENSP00000353178:R61Q	ENSP00000264072:R62Q	R	-	2	0	FCER2	7669247	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-3.801000	0.00363	-1.848000	0.01172	-2.048000	0.00412	CGG		0.622	FCER2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461832.1	NM_002002	
FBN3	84467	broad.mit.edu	37	19	8183822	8183822	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr19:8183822G>A	ENST00000600128.1	-	26	3710	c.3296C>T	c.(3295-3297)cCc>cTc	p.P1099L	FBN3_ENST00000601739.1_Missense_Mutation_p.P1099L|FBN3_ENST00000270509.2_Missense_Mutation_p.P1099L			Q75N90	FBN3_HUMAN	fibrillin 3	1099	EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ATGCCCAGGGGGACACTGGCA	0.592																																						uc002mjf.3																			0		p.C1098C(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(3295-3297)cCc>cTc		Homo sapiens fibrillin 3 (FBN3), mRNA.							160.0	117.0	131.0					19																	8183822		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8183822G>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.3296C>T	19.37:g.8183822G>A	ENSP00000470498:p.Pro1099Leu						p.P1099L	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			24	3313	-			1099			EGF-like 14; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.3296C>T	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414692	0.62511	.	.	ENSG00000142449	ENST00000270509	D	0.92299	-3.01	4.18	3.11	0.35812	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.93956	0.8065	L	0.55990	1.75	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	D	0.92623	0.6109	10	0.39692	T	0.17	.	13.3784	0.60752	0.0:0.0:0.8411:0.1589	.	1099	Q75N90	FBN3_HUMAN	L	1099	ENSP00000270509:P1099L	ENSP00000270509:P1099L	P	-	2	0	FBN3	8089822	1.000000	0.71417	0.920000	0.36463	0.416000	0.31233	7.290000	0.78711	0.841000	0.35020	0.313000	0.20887	CCC		0.592	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447	
MSH6	2956	broad.mit.edu	37	2	48023188	48023190	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr2:48023188_48023190delGAA	ENST00000234420.5	+	3	765_767	c.613_615delGAA	c.(613-615)gaadel	p.E207del	MSH6_ENST00000538136.1_5'UTR|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	207	Poly-Glu.				ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCCAGAAGAGGAAGAAGAGATGG	0.438			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													uc002rwd.4			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"""Mis, N, F, S"""	mutS homolog 6 (E. coli)			E		"""colorectal, endometrial, ovarian"""	colorectal		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229						c.(613-615)gaadel	Mismatch excision repair (MMR)	Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA.																																				SO:0001651	inframe_deletion	2956	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48023188_48023190delGAA	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.613_615delGAA	2.37:g.48023191_48023193delGAA	ENSP00000234420:p.Glu207del					MSH6_uc002rwc.2_In_Frame_Del_p.E207del|MSH6_uc010fbj.3_Intron|MSH6_uc010yoj.2_5'UTR	p.E207del	NM_000179	NP_000170	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		2	765_767	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	207			Poly-Glu.		B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	In_Frame_Del	DEL	ENST00000234420.5	37	c.613_615delGAA	CCDS1836.1																																																																																				0.438	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179	
SCN3A	6328	broad.mit.edu	37	2	165952115	165952115	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr2:165952115A>G	ENST00000360093.3	-	25	4828	c.4337T>C	c.(4336-4338)tTa>tCa	p.L1446S	SCN3A_ENST00000283254.7_Missense_Mutation_p.L1446S|SCN3A_ENST00000540861.1_5'Flank|SCN3A_ENST00000465043.1_5'Flank|SCN3A_ENST00000409101.3_Missense_Mutation_p.L1397S	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1446					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GACAAAGTATAAATACATGTA	0.269																																						uc002ucx.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(4336-4338)tTa>tCa		Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	Lamotrigine(DB00555)						71.0	68.0	69.0					2																	165952115		2202	4298	6500	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165952115A>G	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4337T>C	2.37:g.165952115A>G	ENSP00000353206:p.Leu1446Ser					SCN3A_uc010zcy.2_5'Flank|SCN3A_uc002ucy.3_Missense_Mutation_p.L1397S|SCN3A_uc002ucz.3_Missense_Mutation_p.L1397S	p.L1446S	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			24	4829	-			1446					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.4337T>C		.	.	.	.	.	.	.	.	.	.	A	22.2	4.254616	0.80135	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101	D;D;D	0.98835	-5.17;-5.17;-5.17	5.25	5.25	0.73442	.	0.103484	0.38381	N	0.001705	D	0.99093	0.9688	H	0.94964	3.605	0.45452	D	0.998428	P;P;P	0.49307	0.557;0.557;0.922	B;B;P	0.52386	0.234;0.234;0.697	D	0.99433	1.0936	10	0.87932	D	0	.	15.619	0.76790	1.0:0.0:0.0:0.0	.	1397;1397;1446	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	S	1446;1446;1397	ENSP00000353206:L1446S;ENSP00000283254:L1446S;ENSP00000386726:L1397S	ENSP00000283254:L1446S	L	-	2	0	SCN3A	165660361	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.087000	0.94110	2.333000	0.79357	0.482000	0.46254	TTA		0.269	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922	
METTL5	29081	broad.mit.edu	37	2	170677785	170677785	+	Splice_Site	SNP	T	T	C			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr2:170677785T>C	ENST00000260953.5	-	3	541		c.e3-2		METTL5_ENST00000409340.1_Intron|METTL5_ENST00000308099.3_Splice_Site|METTL5_ENST00000392640.2_Splice_Site|METTL5_ENST00000410097.1_Splice_Site|METTL5_ENST00000409837.1_Splice_Site|METTL5_ENST00000409965.1_Splice_Site	NM_014168.2	NP_054887.2	Q9NRN9	METL5_HUMAN	methyltransferase like 5								methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			breast(2)|central_nervous_system(1)|large_intestine(5)|lung(1)|prostate(1)	10						ACACACAACCTATAAATACAA	0.303																																						uc002ufn.3																			0				breast(2)|central_nervous_system(1)|large_intestine(5)|lung(1)|prostate(1)	10						c.e3-1		Homo sapiens methyltransferase like 5 (METTL5), mRNA.							73.0	73.0	73.0					2																	170677785		2203	4298	6501	SO:0001630	splice_region_variant	29081						methyltransferase activity|nucleic acid binding	g.chr2:170677785T>C	AF201938	CCDS33320.1	2q31.1	2011-01-28			ENSG00000138382	ENSG00000138382			25006	protein-coding gene	gene with protein product						11042152	Standard	XM_005246478		Approved	HSPC133	uc002ufn.3	Q9NRN9	OTTHUMG00000154117	ENST00000260953.5:c.225-2A>G	2.37:g.170677785T>C						METTL5_uc002ufo.3_Splice_Site_p.G75_splice|METTL5_uc002ufp.3_Splice_Site_p.G75_splice	p.G75_splice	NM_014168	NP_054887	Q9NRN9	METL5_HUMAN			3	471	-			75					D3DPC9|Q9NVX1	Splice_Site	SNP	ENST00000260953.5	37	c.225_splice	CCDS33320.1	.	.	.	.	.	.	.	.	.	.	T	19.42	3.825016	0.71143	.	.	ENSG00000138382	ENST00000409837;ENST00000540464;ENST00000260953;ENST00000409965;ENST00000392640;ENST00000308099;ENST00000410097	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.078	0.72090	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	METTL5	170386031	1.000000	0.71417	0.851000	0.33527	0.974000	0.67602	7.806000	0.86020	2.014000	0.59158	0.533000	0.62120	.		0.303	METTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333957.1	NM_014168	Intron
CHRNG	1146	broad.mit.edu	37	2	233404776	233404776	+	Missense_Mutation	SNP	G	G	A	rs186589083	byFrequency	TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr2:233404776G>A	ENST00000389494.3	+	2	151	c.130G>A	c.(130-132)Gcg>Acg	p.A44T	CHRNG_ENST00000389492.3_Missense_Mutation_p.A44T	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	44					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	CCTGCGGCCCGCGGAACGAGA	0.632													G|||	4	0.000798722	0.0	0.0	5008	,	,		17737	0.004		0.0	False		,,,				2504	0.0					uc002vsx.1																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22						c.(130-132)Gcg>Acg		Homo sapiens cholinergic receptor, nicotinic, gamma (CHRNG), mRNA.							62.0	68.0	66.0					2																	233404776		2203	4300	6503	SO:0001583	missense	1146				muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity	g.chr2:233404776G>A	X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1967	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, gamma (muscle)"""	100730	"""cholinergic receptor, nicotinic, gamma"""	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.130G>A	2.37:g.233404776G>A	ENSP00000374145:p.Ala44Thr					CHRNG_uc010fyd.3_Missense_Mutation_p.A44T|CHRNG_uc010fye.1_Missense_Mutation_p.A44T	p.A44T	NM_005199	NP_005190	P07510	ACHG_HUMAN		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	1	151	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	44					B3KWM8|Q14DU4|Q53RG2	Missense_Mutation	SNP	ENST00000389494.3	37	c.130G>A	CCDS33400.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	14.24	2.475403	0.43942	.	.	ENSG00000196811	ENST00000389494;ENST00000541596;ENST00000389492	T;T	0.77489	-1.1;-1.1	4.01	4.01	0.46588	Neurotransmitter-gated ion-channel ligand-binding (3);	0.152135	0.43579	D	0.000557	T	0.71710	0.3372	L	0.49640	1.575	0.42256	D	0.991997	B;B	0.24092	0.079;0.097	B;B	0.37144	0.034;0.242	T	0.76315	-0.3004	10	0.51188	T	0.08	.	16.2992	0.82801	0.0:0.0:1.0:0.0	.	44;44	Q14DU4;P07510	.;ACHG_HUMAN	T	44	ENSP00000374145:A44T;ENSP00000374143:A44T	ENSP00000374143:A44T	A	+	1	0	CHRNG	233113020	0.984000	0.35163	0.095000	0.20976	0.171000	0.22731	4.343000	0.59348	2.063000	0.61619	0.448000	0.29417	GCG		0.632	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330743.1	NM_005199	
FRG1B	284802	broad.mit.edu	37	20	29625885	29625885	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr20:29625885A>T	ENST00000278882.3	+	5	509	c.129A>T	c.(127-129)aaA>aaT	p.K43N	FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N|FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	43								p.K43N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCGCCCTGAAATCTGGCTATG	0.353																																						uc010ztl.1																			2	Substitution - Missense(2)	p.K43N(2)|p.V12V(1)	prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(37-39)aaA>aaT		Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.																																				SO:0001583	missense	284802							g.chr20:29625885A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.129A>T	20.37:g.29625885A>T	ENSP00000278882:p.Lys43Asn					FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron	p.K13N							1	71	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.39A>T		.	.	.	.	.	.	.	.	.	.	a	10.23	1.292024	0.23564	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62364	0.03	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.74145	0.3678	.	.	.	0.48762	D	0.999701	D	0.71674	0.998	D	0.79784	0.993	T	0.74598	-0.3612	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	48	F5H5R5	.	N	43;48;43	ENSP00000408863:K48N	ENSP00000278882:K43N	K	+	3	2	FRG1B	28239546	1.000000	0.71417	1.000000	0.80357	0.064000	0.16182	0.595000	0.24029	1.028000	0.39785	0.155000	0.16302	AAA		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	
SALL4	57167	broad.mit.edu	37	20	50407510	50407510	+	Silent	SNP	G	G	A	rs138804604		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr20:50407510G>A	ENST00000217086.4	-	2	1623	c.1512C>T	c.(1510-1512)ccC>ccT	p.P504P	SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	504					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCAGGTCACCGGGCAAGGAGC	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		18873	0.0		0.0	False		,,,				2504	0.001					uc002xwh.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1510-1512)ccC>ccT		Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.		G		2,4404	4.2+/-10.8	0,2,2201	97.0	105.0	102.0		1512	4.4	0.3	20	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SALL4	NM_020436.3		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		504/1054	50407510	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50407510G>A	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.1512C>T	20.37:g.50407510G>A						SALL4_uc010gii.3_Intron|SALL4_uc002xwi.4_Intron	p.P504P	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN			1	1613	-			504					A2A2D8|Q540H3|Q6Y8G6	Silent	SNP	ENST00000217086.4	37	c.1512C>T	CCDS13438.1																																																																																				0.567	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3		
LAMA5	3911	broad.mit.edu	37	20	60928193	60928193	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr20:60928193C>G	ENST00000252999.3	-	3	631	c.565G>C	c.(565-567)Gcc>Ccc	p.A189P	LAMA5_ENST00000370677.3_Missense_Mutation_p.A189P|RP11-157P1.5_ENST00000478167.1_RNA|RP11-157P1.5_ENST00000477848.1_RNA|RP11-157P1.5_ENST00000456721.2_RNA|RP11-157P1.5_ENST00000487421.1_RNA|LAMA5_ENST00000370692.3_Missense_Mutation_p.A189P	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	189	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GACTCACAGGCAAAGAACTGC	0.662																																						uc002ycq.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(565-567)Gcc>Ccc		Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						26.0	27.0	27.0					20																	60928193		2164	4255	6419	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60928193C>G	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.565G>C	20.37:g.60928193C>G	ENSP00000252999:p.Ala189Pro					LAMA5_uc021wfw.1_Missense_Mutation_p.A189P	p.A189P	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		2	632	-	Breast(26;1.57e-08)		189			Laminin N-terminal.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.565G>C	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	C	31	5.090162	0.94149	.	.	ENSG00000130702	ENST00000252999;ENST00000370692;ENST00000370677	T;T;T	0.80123	-1.34;-1.34;-1.34	4.4	4.4	0.53042	Laminin, N-terminal (3);	0.123149	0.53938	U	0.000050	D	0.92221	0.7533	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94587	0.7784	10	0.87932	D	0	.	16.98	0.86324	0.0:1.0:0.0:0.0	.	189	O15230	LAMA5_HUMAN	P	189	ENSP00000252999:A189P;ENSP00000359726:A189P;ENSP00000359711:A189P	ENSP00000252999:A189P	A	-	1	0	LAMA5	60361588	1.000000	0.71417	0.976000	0.42696	0.891000	0.51852	5.687000	0.68219	2.019000	0.59389	0.462000	0.41574	GCC		0.662	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560	
KRTAP10-12	386685	broad.mit.edu	37	21	46117243	46117243	+	Missense_Mutation	SNP	G	G	A	rs199900483		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr21:46117243G>A	ENST00000400365.3	+	1	157	c.127G>A	c.(127-129)Gcc>Acc	p.A43T	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	43	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(8)	9						CCCCTGCTGCGCCCCGGCCCC	0.677																																						uc002zfw.1																			0				large_intestine(1)|lung(8)	9						c.(127-129)Gcc>Acc		Homo sapiens keratin associated protein 10-12 (KRTAP10-12), mRNA.		G	,THR/ALA	0,4172		0,0,2086	44.0	52.0	49.0		,127	0.5	0.7	21		49	2,8452		0,2,4225	no	intron,missense	TSPEAR,KRTAP10-12	NM_144991.2,NM_198699.1	,58	0,2,6311	AA,AG,GG		0.0237,0.0,0.0158	,probably-damaging	,43/246	46117243	2,12624	2086	4227	6313	SO:0001583	missense	386685					keratin filament		g.chr21:46117243G>A	AB076364	CCDS42967.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000189169	ENSG00000189169		"""Keratin associated proteins"""	20533	protein-coding gene	gene with protein product			"""keratin associated protein 18-12"""	KRTAP18-12			Standard	NM_198699		Approved	KRTAP18.12, KAP10.12	uc002zfw.1	P60413	OTTHUMG00000057629	ENST00000400365.3:c.127G>A	21.37:g.46117243G>A	ENSP00000383216:p.Ala43Thr					TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	p.A43T	NM_198699	NP_941972	P60413	KR10C_HUMAN			0	157	+			43			19 X 5 AA repeats of C-C-X(3).		B2RPA3	Missense_Mutation	SNP	ENST00000400365.3	37	c.127G>A	CCDS42967.1	.	.	.	.	.	.	.	.	.	.	N	7.053	0.564762	0.13498	0.0	2.37E-4	ENSG00000189169	ENST00000400365	T	0.04654	3.58	3.61	0.506	0.16961	.	.	.	.	.	T	0.03305	0.0096	N	0.20986	0.625	0.22446	N	0.999096	B	0.09022	0.002	B	0.04013	0.001	T	0.43861	-0.9365	9	0.39692	T	0.17	.	4.6012	0.12354	0.216:0.3464:0.4376:0.0	.	43	P60413	KR10C_HUMAN	T	43	ENSP00000383216:A43T	ENSP00000383216:A43T	A	+	1	0	KRTAP10-12	44941671	.	.	0.700000	0.30305	0.237000	0.25408	.	.	-0.159000	0.11021	-0.736000	0.03550	GCC		0.677	KRTAP10-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128032.1	NM_198699	
POTEH	23784	broad.mit.edu	37	22	16287770	16287770	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr22:16287770C>T	ENST00000343518.6	-	1	167	c.116G>A	c.(115-117)gGc>gAc	p.G39D		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	39										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GTTGCTCTTGCCGCTCCCCCT	0.592																																						uc010gqp.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(115-117)gGc>gAc		Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.							88.0	108.0	101.0					22																	16287770		1970	3758	5728	SO:0001583	missense	23784							g.chr22:16287770C>T	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.116G>A	22.37:g.16287770C>T	ENSP00000340610:p.Gly39Asp					POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR	p.G39D	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN			0	168	-			39					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.116G>A	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	10.31	1.313845	0.23908	.	.	ENSG00000198062	ENST00000359587;ENST00000343518;ENST00000355872	T	0.57752	0.38	.	.	.	.	.	.	.	.	T	0.42131	0.1189	L	0.29908	0.895	0.09310	N	1	D	0.61697	0.99	P	0.52823	0.71	T	0.32134	-0.9918	7	0.07644	T	0.81	.	.	.	.	.	39	Q6S545	POTEH_HUMAN	D	39	ENSP00000340610:G39D	ENSP00000340610:G39D	G	-	2	0	POTEH	14667770	0.002000	0.14202	0.022000	0.16811	0.022000	0.10575	0.904000	0.28491	0.073000	0.16731	0.074000	0.15403	GGC		0.592	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213	
LZTR1	8216	broad.mit.edu	37	22	21342326	21342326	+	Missense_Mutation	SNP	A	A	C			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr22:21342326A>C	ENST00000215739.8	+	5	787	c.428A>C	c.(427-429)aAt>aCt	p.N143T	LZTR1_ENST00000389355.3_Missense_Mutation_p.N124T|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	143					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ATTTATTCCAATTCTAACTTG	0.438																																						uc002zto.3																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42						c.(427-429)aAt>aCt		Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.							82.0	83.0	83.0					22																	21342326		2203	4300	6503	SO:0001583	missense	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21342326A>C	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.428A>C	22.37:g.21342326A>C	ENSP00000215739:p.Asn143Thr					LZTR1_uc002ztn.3_Missense_Mutation_p.N102T|LZTR1_uc011ahy.2_Missense_Mutation_p.N124T|LZTR1_uc010gsr.1_Missense_Mutation_p.N14T	p.N143T	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		4	531	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	143					Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	c.428A>C	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.742625	0.89573	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.67171	-0.24;-0.25	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.82033	0.4949	M	0.83692	2.655	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.998	D;D;D;D	0.97110	0.999;1.0;0.997;0.991	T	0.82979	-0.0188	10	0.42905	T	0.14	-22.5753	13.5984	0.62004	1.0:0.0:0.0:0.0	.	124;102;143;102	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	T	102;143;124	ENSP00000215739:N143T;ENSP00000374006:N124T	ENSP00000215739:N143T	N	+	2	0	LZTR1	19672326	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.313000	0.96297	2.102000	0.63906	0.459000	0.35465	AAT		0.438	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767	
C1QTNF6	114904	broad.mit.edu	37	22	37581479	37581479	+	Missense_Mutation	SNP	G	G	T	rs375717787		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr22:37581479G>T	ENST00000337843.2	-	2	143	c.68C>A	c.(67-69)gCc>gAc	p.A23D	C1QTNF6_ENST00000255836.6_5'Flank|C1QTNF6_ENST00000470655.1_5'UTR|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000397110.2_Missense_Mutation_p.A23D	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	4			P -> R (in dbSNP:rs229526). {ECO:0000269|PubMed:12975309}.		protein heterotrimerization (GO:0070208)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						ACCCAGGGCGGCTGTCCCCAT	0.602																																						uc003aqx.1																			0				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(67-69)gCc>gAc		Homo sapiens C1q and tumor necrosis factor related protein 6 (C1QTNF6), transcript variant 2, mRNA.							32.0	33.0	33.0					22																	37581479		2203	4300	6503	SO:0001583	missense	114904					collagen		g.chr22:37581479G>T	AF329842	CCDS13943.1	22q13.1	2014-02-21			ENSG00000133466	ENSG00000133466			14343	protein-coding gene	gene with protein product		614910				12975309	Standard	NM_031910		Approved	CTRP6, ZACRP6	uc003aqy.1	Q9BXI9	OTTHUMG00000150538	ENST00000337843.2:c.68C>A	22.37:g.37581479G>T	ENSP00000338812:p.Ala23Asp					C1QTNF6_uc003aqw.1_Missense_Mutation_p.A4D|C1QTNF6_uc003aqy.1_Missense_Mutation_p.A23D|C1QTNF6_uc003aqz.1_Non-coding_Transcript	p.A23D	NM_182486	NP_872292	Q9BXI9	C1QT6_HUMAN			1	331	-			4		P -> R (in dbSNP:rs229526).			Q5H9G8|Q6ZRM7	Missense_Mutation	SNP	ENST00000337843.2	37	c.68C>A	CCDS13943.1	.	.	.	.	.	.	.	.	.	.	G	6.797	0.516165	0.12944	.	.	ENSG00000133466	ENST00000397110;ENST00000337843	T;T	0.39787	1.06;1.06	4.49	3.1	0.35709	.	0.934197	0.08948	N	0.870492	T	0.44201	0.1282	M	0.63428	1.95	0.09310	N	1	P;P	0.47677	0.899;0.718	P;B	0.45681	0.49;0.296	T	0.35051	-0.9804	10	0.72032	D	0.01	.	5.3959	0.16268	0.2246:0.1584:0.617:0.0	.	23;4	Q9BXI9-2;Q9BXI9	.;C1QT6_HUMAN	D	23	ENSP00000380299:A23D;ENSP00000338812:A23D	ENSP00000338812:A23D	A	-	2	0	C1QTNF6	35911425	0.000000	0.05858	0.003000	0.11579	0.429000	0.31625	-0.222000	0.09190	0.716000	0.32124	0.491000	0.48974	GCC		0.602	C1QTNF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318807.1	NM_182486	
UGT2A1	10941	broad.mit.edu	37	4	70455172	70455172	+	Missense_Mutation	SNP	G	G	A	rs184187801	byFrequency	TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr4:70455172G>A	ENST00000503640.1	-	6	1557	c.1502C>T	c.(1501-1503)aCg>aTg	p.T501M	UGT2A1_ENST00000502343.1_5'Flank|UGT2A1_ENST00000286604.4_Missense_Mutation_p.T501M|UGT2A1_ENST00000512704.1_Missense_Mutation_p.T457M|UGT2A2_ENST00000457664.2_Missense_Mutation_p.T510M|UGT2A1_ENST00000514019.1_Missense_Mutation_p.T667M	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	501					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AAATATAGCCGTTGTCACACA	0.413													G|||	3	0.000599042	0.0008	0.0	5008	,	,		17398	0.002		0.0	False		,,,				2504	0.0					uc011caq.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(1999-2001)aCg>aTg		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.		G	MET/THR,MET/THR	0,4406		0,0,2203	103.0	101.0	102.0		1529,1502	2.3	0.0	4		102	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	UGT2A1,UGT2A2	NM_001105677.2,NM_006798.2	81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	510/537,501/528	70455172	1,13005	2203	4300	6503	SO:0001583	missense	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	g.chr4:70455172G>A	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.1502C>T	4.37:g.70455172G>A	ENSP00000424478:p.Thr501Met					UGT2A1_uc010ihu.3_Missense_Mutation_p.T501M|UGT2A1_uc003hem.4_Missense_Mutation_p.T501M|UGT2A1_uc010ihs.3_Missense_Mutation_p.T510M|UGT2A1_uc021xox.1_Missense_Mutation_p.T466M|UGT2A1_uc010iht.3_Missense_Mutation_p.T457M	p.T667M	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN			6	2116	-			501					B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	c.2000C>T	CCDS3529.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	2.472	-0.321615	0.05386	0.0	1.16E-4	ENSG00000173610	ENST00000457664;ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604	T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11	5.08	2.32	0.28847	.	0.827519	0.11205	N	0.588302	T	0.66066	0.2752	M	0.67397	2.05	.	.	.	D;P;D;P;D	0.71674	0.998;0.689;0.983;0.939;0.993	P;B;P;P;P	0.57283	0.807;0.254;0.817;0.534;0.817	T	0.68439	-0.5408	9	0.72032	D	0.01	.	6.9021	0.24288	0.1669:0.1451:0.688:0.0	.	667;667;457;510;501	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1-2;Q9Y4X1	.;.;.;.;UD2A1_HUMAN	M	510;501;457;667;501	ENSP00000387888:T510M;ENSP00000424478:T501M;ENSP00000421432:T457M;ENSP00000425497:T667M;ENSP00000286604:T501M	ENSP00000286604:T501M	T	-	2	0	UGT2A1	70489761	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.543000	0.23237	0.601000	0.29879	-0.317000	0.08691	ACG		0.413	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798	
NAP1L5	266812	broad.mit.edu	37	4	89618484	89618486	+	In_Frame_Del	DEL	TCC	TCC	-	rs201095744|rs147461195	byFrequency	TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr4:89618484_89618486delTCC	ENST00000323061.5	-	1	900_902	c.420_422delGGA	c.(418-423)gaggaa>gaa	p.140_141EE>E	HERC3_ENST00000402738.1_Intron|HERC3_ENST00000264345.3_Intron|HERC3_ENST00000543130.1_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	140	Glu-rich.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		gtactcctcttcctcctcctcct	0.606														5	0.000998403	0.0008	0.0058	5008	,	,		14727	0.0		0.0	False		,,,				2504	0.0					uc003hrx.3																			0				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7						c.(418-423)gaggaa>gaa		Homo sapiens nucleosome assembly protein 1-like 5 (NAP1L5), mRNA.																																				SO:0001651	inframe_deletion	266812				nucleosome assembly	nucleus	protein binding	g.chr4:89618484_89618486delTCC	NM_153757	CCDS3632.1	4q21-q22	2006-04-12			ENSG00000177432	ENSG00000177432			19968	protein-coding gene	gene with protein product		612203				12383514	Standard	NM_153757		Approved	DRLM	uc003hrx.3	Q96NT1	OTTHUMG00000130950	ENST00000323061.5:c.420_422delGGA	4.37:g.89618493_89618495delTCC	ENSP00000320488:p.Glu143del					HERC3_uc011cdn.1_Intron|HERC3_uc003hrw.1_Intron|HERC3_uc011cdo.1_Intron	p.140_141EE>E	NM_153757	NP_715638	Q96NT1	NP1L5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000181)	0	538_540	-			140			Glu-rich.			In_Frame_Del	DEL	ENST00000323061.5	37	c.420_422delGGA	CCDS3632.1																																																																																				0.606	NAP1L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253551.1	NM_153757	
FGA	2243	broad.mit.edu	37	4	155507683	155507683	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr4:155507683A>T	ENST00000302053.3	-	5	976	c.898T>A	c.(898-900)Tct>Act	p.S300T	FGA_ENST00000403106.3_Missense_Mutation_p.S300T	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	300					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CCAGGTCCAGAGCTCCCAGAG	0.562																																					NSCLC(143;340 1922 20892 22370 48145)	uc003iod.1																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(898-900)Tct>Act		Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						94.0	103.0	100.0					4																	155507683		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155507683A>T		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.898T>A	4.37:g.155507683A>T	ENSP00000306361:p.Ser300Thr					FGA_uc003ioe.1_Missense_Mutation_p.S300T|FGA_uc003iof.1_Intron	p.S300T	NM_000508	NP_000499	P02671	FIBA_HUMAN			4	956	-	all_hematologic(180;0.215)	Renal(120;0.0458)	300					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.898T>A	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	A	2.855	-0.237461	0.05944	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	T;T	0.80994	-1.44;-1.44	4.08	-1.59	0.08453	.	16.970000	0.00166	N	0.000000	T	0.65144	0.2663	L	0.27053	0.805	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.001	T	0.47586	-0.9106	10	0.10902	T	0.67	.	3.2959	0.06966	0.5313:0.0:0.1799:0.2887	.	300;300	P02671-2;P02671	.;FIBA_HUMAN	T	300	ENSP00000306361:S300T;ENSP00000385981:S300T	ENSP00000306361:S300T	S	-	1	0	FGA	155727133	0.000000	0.05858	0.002000	0.10522	0.066000	0.16364	-0.546000	0.06062	-0.123000	0.11745	-0.500000	0.04577	TCT		0.562	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508	
STOX2	56977	broad.mit.edu	37	4	184938294	184938294	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr4:184938294C>T	ENST00000308497.4	+	4	4073	c.2638C>T	c.(2638-2640)Cgt>Tgt	p.R880C		NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	880					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		AAGTAACCGTCGTCAGAACCC	0.502																																						uc003ivz.1																			0				breast(1)|endometrium(7)|lung(6)	14						c.(2638-2640)Cgt>Tgt		Homo sapiens storkhead box 2 (STOX2), mRNA.							40.0	42.0	41.0					4																	184938294		1869	4098	5967	SO:0001583	missense	56977				embryo development|maternal placenta development			g.chr4:184938294C>T	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.2638C>T	4.37:g.184938294C>T	ENSP00000311257:p.Arg880Cys					AK001394_uc003iwb.1_5'Flank|STOX2_uc003iwa.1_3'UTR	p.R880C	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)	3	4073	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	880					A6H8U4|Q9NPS8	Missense_Mutation	SNP	ENST00000308497.4	37	c.2638C>T	CCDS47167.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.8|23.8	4.462294|4.462294	0.84425|0.84425	.|.	.|.	ENSG00000173320|ENSG00000173320	ENST00000308497|ENST00000513034	D|.	0.82255|.	-1.59|.	5.73|5.73	4.87|4.87	0.63330|0.63330	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56411|0.56411	0.1983|0.1983	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.80764|.	0.994|.	T|T	0.52472|0.52472	-0.8571|-0.8571	10|5	0.87932|.	D|.	0|.	-14.6333|-14.6333	15.5361|15.5361	0.76004|0.76004	0.1395:0.8605:0.0:0.0|0.1395:0.8605:0.0:0.0	.|.	880|.	Q9P2F5|.	STOX2_HUMAN|.	C|L	880|69	ENSP00000311257:R880C|.	ENSP00000311257:R880C|.	R|S	+|+	1|2	0|0	STOX2|STOX2	185175288|185175288	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.942000|0.942000	0.58702|0.58702	3.087000|3.087000	0.50167|0.50167	1.381000|1.381000	0.46364|0.46364	0.557000|0.557000	0.71058|0.71058	CGT|TCG		0.502	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225	
DNAH5	1767	broad.mit.edu	37	5	13885213	13885213	+	Silent	SNP	G	G	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr5:13885213G>A	ENST00000265104.4	-	19	2972	c.2868C>T	c.(2866-2868)cgC>cgT	p.R956R	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	956	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R956R(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGAGTAACTCGCGGGCTTCTT	0.443									Kartagener syndrome																													uc003jfd.2																			2	Substitution - coding silent(2)	p.R956R(4)	large_intestine(1)|lung(1)	NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(2866-2868)cgC>cgT		Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.							126.0	120.0	122.0					5																	13885213		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13885213G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.2868C>T	5.37:g.13885213G>A							p.R956R	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			18	2910	-	Lung NSC(4;0.00476)		956			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.2868C>T	CCDS3882.1																																																																																				0.443	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
PIK3R1	5295	broad.mit.edu	37	5	67522740	67522741	+	Frame_Shift_Ins	INS	-	-	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr5:67522740_67522741insA	ENST00000521381.1	+	2	853_854	c.237_238insA	c.(238-240)aaafs	p.K80fs	PIK3R1_ENST00000396611.1_Frame_Shift_Ins_p.K80fs|PIK3R1_ENST00000521657.1_Frame_Shift_Ins_p.K80fs|PIK3R1_ENST00000274335.5_Frame_Shift_Ins_p.K80fs	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	80					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	ATATTGGAAGGAAAAAAATCTC	0.49			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												uc003jva.3				Rec	yes		5	5q13.1	5295	"""Mis, F, O"""	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			"""gliobastoma, ovarian, colorectal"""		1	Whole gene deletion(1)	p.0?(1)	large_intestine(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(235-240)aggaaafs		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	Isoproterenol(DB01064)																																			SO:0001589	frameshift_variant	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67522740_67522741insA	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.244dupA	5.37:g.67522747_67522747dupA	ENSP00000428056:p.Lys80fs	TCGA GBM(4;<1E-08)					p.R79fs	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	1	817_818	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	79			SH3.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Frame_Shift_Ins	INS	ENST00000521381.1	37	c.237_238insA	CCDS3993.1																																																																																				0.490	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	
GPR98	84059	broad.mit.edu	37	5	89992775	89992775	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr5:89992775T>C	ENST00000405460.2	+	34	8063	c.7967T>C	c.(7966-7968)aTt>aCt	p.I2656T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2656	Calx-beta 18. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAGACAGTCATTTTAACCATC	0.368																																						uc003kju.3																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(7966-7968)aTt>aCt		Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.							106.0	95.0	98.0					5																	89992775		1846	4084	5930	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89992775T>C	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.7967T>C	5.37:g.89992775T>C	ENSP00000384582:p.Ile2656Thr					GPR98_uc003kjt.3_Missense_Mutation_p.I362T|GPR98_uc003kjv.3_Missense_Mutation_p.I256T	p.I2656T	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	33	8063	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2656			Calx-beta 18.		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.7967T>C	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.506|0.506	-0.868765|-0.868765	0.02570|0.02570	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000509621|ENST00000405460;ENST00000296619	.|T	.|0.27557	.|1.66	5.92|5.92	0.982|0.982	0.19762|0.19762	.|Na-Ca exchanger/integrin-beta4 (2);	.|0.640972	.|0.17629	.|N	.|0.167446	T|T	0.07234|0.07234	0.0183|0.0183	N|N	0.00471|0.00471	-1.455|-1.455	0.09310|0.09310	N|N	1|1	.|B;B	.|0.09022	.|0.002;0.0	.|B;B	.|0.11329	.|0.006;0.006	T|T	0.39860|0.39860	-0.9593|-0.9593	5|10	.|0.07030	.|T	.|0.85	.|.	9.4556|9.4556	0.38753|0.38753	0.0:0.4332:0.0:0.5668|0.0:0.4332:0.0:0.5668	.|.	.|2656;2656	.|E7ETI5;Q8WXG9	.|.;GPR98_HUMAN	L|T	222|2656	.|ENSP00000384582:I2656T	.|ENSP00000296619:I2656T	F|I	+|+	1|2	0|0	GPR98|GPR98	90028531|90028531	0.004000|0.004000	0.15560|0.15560	0.157000|0.157000	0.22605|0.22605	0.958000|0.958000	0.62258|0.62258	1.851000|1.851000	0.39338|0.39338	0.478000|0.478000	0.27488|0.27488	0.459000|0.459000	0.35465|0.35465	TTT|ATT		0.368	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
ARAP3	64411	broad.mit.edu	37	5	141049346	141049346	+	Missense_Mutation	SNP	C	C	T	rs377450993		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr5:141049346C>T	ENST00000239440.4	-	16	2347	c.2282G>A	c.(2281-2283)gGg>gAg	p.G761E	ARAP3_ENST00000513878.1_Missense_Mutation_p.G423E|ARAP3_ENST00000508305.1_Missense_Mutation_p.G663E	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	761					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GATCCTCCCCCCAGCGAGGAT	0.587																																						uc003llm.3																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(2281-2283)gGg>gAg		Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.							92.0	82.0	85.0					5																	141049346		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141049346C>T	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.2282G>A	5.37:g.141049346C>T	ENSP00000239440:p.Gly761Glu					ARAP3_uc011dbe.2_Missense_Mutation_p.G423E|ARAP3_uc003lln.3_Missense_Mutation_p.G663E	p.G761E	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN			15	2360	-			761					B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.2282G>A	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270200	0.59540	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.11930	2.73;2.73;2.73	5.22	4.35	0.52113	Pleckstrin homology domain (1);	0.208531	0.42053	D	0.000770	T	0.28566	0.0707	L	0.61218	1.895	0.36314	D	0.857808	P;D;D	0.60575	0.609;0.988;0.979	B;P;P	0.58721	0.254;0.844;0.63	T	0.26538	-1.0100	10	0.46703	T	0.11	.	12.9998	0.58667	0.0:0.8377:0.1622:0.0	.	423;663;761	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	E	663;761;423	ENSP00000421826:G663E;ENSP00000239440:G761E;ENSP00000421468:G423E	ENSP00000239440:G761E	G	-	2	0	ARAP3	141029530	0.951000	0.32395	0.996000	0.52242	0.968000	0.65278	3.821000	0.55700	1.198000	0.43158	-0.266000	0.10368	GGG		0.587	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481	
FAT2	2196	broad.mit.edu	37	5	150920247	150920247	+	Missense_Mutation	SNP	G	G	A	rs201177490		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr5:150920247G>A	ENST00000261800.5	-	10	8932	c.8920C>T	c.(8920-8922)Cgc>Tgc	p.R2974C		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2974	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTATGCTCGCGGTCCAGGGTC	0.527																																						uc003lue.4																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(8920-8922)Cgc>Tgc		Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.							106.0	88.0	94.0					5																	150920247		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150920247G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.8920C>T	5.37:g.150920247G>A	ENSP00000261800:p.Arg2974Cys						p.R2974C	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	8933	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2974			Cadherin 26.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.8920C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845847	0.71603	.	.	ENSG00000086570	ENST00000261800	T	0.01745	4.66	5.26	5.26	0.73747	Cadherin (4);Cadherin-like (1);	0.000000	0.56097	D	0.000033	T	0.16342	0.0393	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01541	-1.1329	10	0.46703	T	0.11	.	13.0097	0.58724	0.0:0.0:0.7286:0.2714	.	2974	Q9NYQ8	FAT2_HUMAN	C	2974	ENSP00000261800:R2974C	ENSP00000261800:R2974C	R	-	1	0	FAT2	150900440	1.000000	0.71417	0.999000	0.59377	0.877000	0.50540	2.953000	0.49105	2.471000	0.83476	0.563000	0.77884	CGC		0.527	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
KHDC3L	154288	broad.mit.edu	37	6	74073351	74073351	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr6:74073351G>A	ENST00000370367.3	+	3	475	c.422G>A	c.(421-423)cGg>cAg	p.R141Q		NM_001017361.2	NP_001017361.1	Q587J8	KHD3L_HUMAN	KH domain containing 3-like, subcortical maternal complex member	141							RNA binding (GO:0003723)										ATAGAAGTCCGGGAGGCCGGG	0.657																																						uc003pgt.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|stomach(1)	19						c.(421-423)cGg>cAg		Homo sapiens chromosome 6 open reading frame 221 (C6orf221), mRNA.							30.0	36.0	34.0					6																	74073351		2202	4300	6502	SO:0001583	missense	154288							g.chr6:74073351G>A	AB211062	CCDS34484.1	6q13	2012-06-25	2012-06-25	2012-06-25	ENSG00000203908	ENSG00000203908			33699	protein-coding gene	gene with protein product	"""ES cell associated transcript 1"""	611687	"""chromosome 6 open reading frame 221"""	C6orf221		21885028	Standard	NM_001017361		Approved	ECAT1	uc003pgt.4	Q587J8	OTTHUMG00000015024	ENST00000370367.3:c.422G>A	6.37:g.74073351G>A	ENSP00000359392:p.Arg141Gln						p.R141Q	NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN			2	475	+			141					B2RNW7	Missense_Mutation	SNP	ENST00000370367.3	37	c.422G>A	CCDS34484.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300647	0.40694	.	.	ENSG00000203908	ENST00000370367	T	0.51817	0.69	2.91	-4.6	0.03390	.	1.126930	0.06886	N	0.803352	T	0.11537	0.0281	L	0.52573	1.65	0.09310	N	1	P	0.48350	0.909	B	0.33454	0.164	T	0.08472	-1.0720	10	0.45353	T	0.12	-2.7233	0.8683	0.01208	0.3157:0.2931:0.2427:0.1485	.	141	Q587J8	ECAT1_HUMAN	Q	141	ENSP00000359392:R141Q	ENSP00000359392:R141Q	R	+	2	0	C6orf221	74130072	0.000000	0.05858	0.000000	0.03702	0.379000	0.30106	-0.631000	0.05496	-1.220000	0.02594	-0.136000	0.14681	CGG		0.657	KHDC3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041202.3	NM_001017361	
FYN	2534	broad.mit.edu	37	6	112015863	112015863	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr6:112015863T>C	ENST00000354650.3	-	11	1693	c.1087A>G	c.(1087-1089)Aaa>Gaa	p.K363E	FYN_ENST00000229470.5_Missense_Mutation_p.K311E|FYN_ENST00000368667.2_Missense_Mutation_p.K363E|FYN_ENST00000368678.4_Missense_Mutation_p.K360E|FYN_ENST00000476769.2_5'Flank|FYN_ENST00000229471.4_Missense_Mutation_p.K308E|FYN_ENST00000538466.1_Missense_Mutation_p.K360E|FYN_ENST00000356013.2_Missense_Mutation_p.K308E|FYN_ENST00000368682.3_Missense_Mutation_p.K360E	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase	363	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	TTTGGTAATTTCAGAGCTCTT	0.383																																						uc003pvj.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1087-1089)Aaa>Gaa		Homo sapiens FYN oncogene related to SRC, FGR, YES (FYN), transcript variant 1, mRNA.	Dasatinib(DB01254)						173.0	163.0	166.0					6																	112015863		2203	4300	6503	SO:0001583	missense	2534				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity	g.chr6:112015863T>C	AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"""SH2 domain containing"""	4037	protein-coding gene	gene with protein product		137025	"""FYN oncogene related to SRC, FGR, YES"""			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.1087A>G	6.37:g.112015863T>C	ENSP00000346671:p.Lys363Glu					FYN_uc003pvi.3_Missense_Mutation_p.K308E|FYN_uc003pvk.3_Missense_Mutation_p.K363E|FYN_uc003pvh.3_Missense_Mutation_p.K360E|FYN_uc010kdy.1_Missense_Mutation_p.K54E	p.K363E	NM_002037	NP_002028	P06241	FYN_HUMAN		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	9	1427	-		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)	363			Protein kinase.		B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Missense_Mutation	SNP	ENST00000354650.3	37	c.1087A>G	CCDS5094.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.968639	0.74131	.	.	ENSG00000010810	ENST00000368682;ENST00000354650;ENST00000229471;ENST00000368667;ENST00000368678;ENST00000229470;ENST00000356013;ENST00000538466;ENST00000544792	T;T;T;T;T;T;T;T	0.10960	2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82	5.95	5.95	0.96441	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.02807	0.0084	N	0.02225	-0.63	0.80722	D	1	P;B;B;P	0.38195	0.622;0.022;0.106;0.622	B;B;B;B	0.39419	0.299;0.042;0.059;0.299	T	0.50457	-0.8826	10	0.54805	T	0.06	.	16.4237	0.83790	0.0:0.0:0.0:1.0	.	311;363;308;360	B3KPS6;P06241;P06241-3;E1P556	.;FYN_HUMAN;.;.	E	360;363;308;363;360;311;308;360;311	ENSP00000357671:K360E;ENSP00000346671:K363E;ENSP00000229471:K308E;ENSP00000357656:K363E;ENSP00000357667:K360E;ENSP00000229470:K311E;ENSP00000348295:K308E;ENSP00000440646:K360E	ENSP00000229470:K311E	K	-	1	0	FYN	112122556	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.279000	0.76181	0.533000	0.62120	AAA		0.383	FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043655.1		
GRM1	2911	broad.mit.edu	37	6	146350671	146350672	+	Frame_Shift_Ins	INS	-	-	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr6:146350671_146350672insT	ENST00000282753.1	+	1	253_254	c.18_19insT	c.(19-21)tttfs	p.F7fs	GRM1_ENST00000361719.2_Frame_Shift_Ins_p.F7fs|GRM1_ENST00000392299.2_Frame_Shift_Ins_p.F7fs|GRM1_ENST00000492807.2_Frame_Shift_Ins_p.F7fs|GRM1_ENST00000507907.1_Frame_Shift_Ins_p.F7fs|GRM1_ENST00000355289.4_Frame_Shift_Ins_p.F7fs			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	7					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GGCTCCTTTTGTTTTTTTTCCC	0.644																																						uc010khw.1																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(16-21)ttgtttfs		Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)		,	13,4249		0,13,2118					,	5.4	0.9			109	6,8248		0,6,4121	no	frameshift,frameshift	GRM1	NM_001114329.1,NM_000838.3	,	0,19,6239	A1A1,A1R,RR		0.0727,0.305,0.1518	,	,		19,12497				SO:0001589	frameshift_variant	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146350671_146350672insT	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.26dupT	6.37:g.146350679_146350679dupT	ENSP00000282753:p.Phe7fs					GRM1_uc010khu.1_Frame_Shift_Ins_p.L6fs|GRM1_uc010khv.1_Frame_Shift_Ins_p.L6fs|GRM1_uc003qll.2_Frame_Shift_Ins_p.L6fs|GRM1_uc011edz.1_Frame_Shift_Ins_p.L6fs|GRM1_uc011eea.1_Frame_Shift_Ins_p.L6fs	p.L6fs	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	1	488_489	+		Ovarian(120;0.0387)	6					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Frame_Shift_Ins	INS	ENST00000282753.1	37	c.18_19insT	CCDS5209.1																																																																																				0.644	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838	
CNKSR3	154043	broad.mit.edu	37	6	154831213	154831213	+	Silent	SNP	C	C	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr6:154831213C>T	ENST00000607772.1	-	1	580	c.36G>A	c.(34-36)gtG>gtA	p.V12V		NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	12	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		TCCAGTCCACCACTTGTTTGG	0.652																																						uc021zhc.1																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(34-36)gtG>gtA		Homo sapiens CNKSR family member 3 (CNKSR3), mRNA.							155.0	132.0	140.0					6																	154831213		2203	4300	6503	SO:0001819	synonymous_variant	154043				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane		g.chr6:154831213C>T	AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"""Sterile alpha motif (SAM) domain containing"""	23034	protein-coding gene	gene with protein product			"""membrane associated guanylate kinase interacting protein-like 1"""	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.36G>A	6.37:g.154831213C>T						CNKSR3_uc003qpy.3_Silent_p.V12V	p.V12V	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)	0	541	-		Ovarian(120;0.196)	12			SAM.		Q5SGD5|Q96N65	Silent	SNP	ENST00000607772.1	37	c.36G>A	CCDS5246.1																																																																																				0.652	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042792.2	NM_173515	
SUMF2	25870	broad.mit.edu	37	7	56144570	56144570	+	Silent	SNP	C	C	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr7:56144570C>T	ENST00000413756.1	+	6	602	c.579C>T	c.(577-579)acC>acT	p.T193T	SUMF2_ENST00000434526.2_Silent_p.T212T|SUMF2_ENST00000275607.9_Silent_p.T105T|SUMF2_ENST00000342190.6_Silent_p.T212T|SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000437307.2_Intron|SUMF2_ENST00000395436.2_Silent_p.T197T			Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	193					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAAACCGCACCAACCTGTGGC	0.567																																						uc011kcw.2																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14						c.(634-636)acC>acT		Homo sapiens sulfatase modifying factor 2 (SUMF2), transcript variant 2, mRNA.							101.0	91.0	94.0					7																	56144570		2203	4300	6503	SO:0001819	synonymous_variant	25870					endoplasmic reticulum lumen	metal ion binding	g.chr7:56144570C>T	AK075477	CCDS5524.2, CCDS43588.2, CCDS43589.2, CCDS47589.1, CCDS55111.1	7q11.1	2004-04-30			ENSG00000129103	ENSG00000129103			20415	protein-coding gene	gene with protein product		607940				12757706	Standard	NM_015411		Approved	DKFZp566I1024	uc003trv.3	Q8NBJ7	OTTHUMG00000129373	ENST00000413756.1:c.579C>T	7.37:g.56144570C>T						PSPH_uc003trj.3_Intron|SUMF2_uc011kcv.2_Non-coding_Transcript|SUMF2_uc003trt.3_Silent_p.T105T|SUMF2_uc003trv.3_Silent_p.T212T|SUMF2_uc011kcy.2_Silent_p.T197T|SUMF2_uc011kcz.2_Intron|SUMF2_uc003trx.3_Non-coding_Transcript|SUMF2_uc011kda.2_5'UTR|SUMF2_uc011kcx.2_Intron	p.T212T	NM_015411	NP_001139805	Q8NBJ7	SUMF2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		5	667	+	Breast(14;0.214)		193					B4DU41|B4DWQ0|Q14DW5|Q53ZE3|Q96BH2|Q9BRN3|Q9BWI1|Q9Y405	Silent	SNP	ENST00000413756.1	37	c.636C>T																																																																																					0.567	SUMF2-013	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000341457.2	NM_015411	
CACNA2D1	781	broad.mit.edu	37	7	81611940	81611940	+	Missense_Mutation	SNP	G	G	A	rs149510838		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr7:81611940G>A	ENST00000356253.5	-	24	2189	c.1934C>T	c.(1933-1935)tCg>tTg	p.S645L	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.S633L			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	645					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CAGGGTTTCCGAATCTGCAAA	0.333																																						uc003uhr.1																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(1897-1899)tCg>tTg		Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	G	LEU/SER	0,4406		0,0,2203	89.0	95.0	93.0		1898	5.8	1.0	7	dbSNP_134	93	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CACNA2D1	NM_000722.2	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	633/1092	81611940	1,13005	2203	4300	6503	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81611940G>A	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.1934C>T	7.37:g.81611940G>A	ENSP00000348589:p.Ser645Leu						p.S633L	NM_000722	NP_000713	P54289	CA2D1_HUMAN			23	2154	-			645					Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.1898C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.593|9.593	1.126559|1.126559	0.20959|0.20959	0.0|0.0	1.16E-4|1.16E-4	ENSG00000153956|ENSG00000153956	ENST00000443883|ENST00000356860;ENST00000284088;ENST00000356253	.|D;T	.|0.81739	.|-1.53;-1.02	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	.|0.312791	.|0.36409	.|N	.|0.002606	T|T	0.78227|0.78227	0.4250|0.4250	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	.|B	.|0.16396	.|0.017	.|B	.|0.20767	.|0.031	T|T	0.70857|0.70857	-0.4758|-0.4758	5|10	.|0.34782	.|T	.|0.22	-15.1723|-15.1723	20.1306|20.1306	0.97998|0.97998	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|633	.|P54289-2	.|.	W|L	144|633;652;645	.|ENSP00000349320:S633L;ENSP00000348589:S645L	.|ENSP00000284088:S652L	R|S	-|-	1|2	2|0	CACNA2D1|CACNA2D1	81449876|81449876	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.753000|0.753000	0.42808|0.42808	4.394000|4.394000	0.59671|0.59671	2.751000|2.751000	0.94390|0.94390	0.655000|0.655000	0.94253|0.94253	CGG|TCG		0.333	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding			
UBR5	51366	broad.mit.edu	37	8	103340098	103340099	+	Frame_Shift_Ins	INS	-	-	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr8:103340098_103340099insA	ENST00000520539.1	-	12	1958_1959	c.1352_1353insT	c.(1351-1353)ttafs	p.L451fs	UBR5_ENST00000220959.4_Frame_Shift_Ins_p.L451fs|UBR5_ENST00000521922.1_Frame_Shift_Ins_p.L445fs	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	451					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CCACAGAACTTAAAGTTTCATC	0.376																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.2																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(1351-1353)ttafs		Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.																																				SO:0001589	frameshift_variant	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103340098_103340099insA	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.1353dupT	8.37:g.103340101_103340101dupA	ENSP00000429084:p.Leu451fs					UBR5_uc003yks.2_Frame_Shift_Ins_p.L451fs	p.L451fs	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		11	1807_1808	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		451					B2RP24|J3KMW7|O94970|Q9NPL3	Frame_Shift_Ins	INS	ENST00000520539.1	37	c.1352_1353insT	CCDS34933.1																																																																																				0.376	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902	
CTHRC1	115908	broad.mit.edu	37	8	104388028	104388028	+	Silent	SNP	C	C	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr8:104388028C>T	ENST00000330295.5	+	2	355	c.213C>T	c.(211-213)gcC>gcT	p.A71A	CTHRC1_ENST00000415886.2_Silent_p.A71A|CTHRC1_ENST00000520880.1_5'Flank|CTHRC1_ENST00000520337.1_Silent_p.A57A	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	71	Collagen-like.				cell migration (GO:0016477)|cochlea morphogenesis (GO:0090103)|establishment of planar polarity involved in neural tube closure (GO:0090177)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|ossification involved in bone remodeling (GO:0043932)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein binding (GO:0032092)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)		p.A71A(1)		endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			GCCCTGGGGCCAATGGCATTC	0.522																																						uc003ylk.3																			1	Substitution - coding silent(1)	p.A71A(2)	lung(1)	endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12						c.(211-213)gcC>gcT		Homo sapiens collagen triple helix repeat containing 1 (CTHRC1), transcript variant 1, mRNA.							104.0	116.0	112.0					8																	104388028		2203	4300	6503	SO:0001819	synonymous_variant	115908					collagen		g.chr8:104388028C>T	BC014245	CCDS6299.1, CCDS59110.1	8q22.3	2008-08-07			ENSG00000164932	ENSG00000164932			18831	protein-coding gene	gene with protein product		610635				15618538	Standard	NM_138455		Approved		uc003ylk.4	Q96CG8	OTTHUMG00000164887	ENST00000330295.5:c.213C>T	8.37:g.104388028C>T						CTHRC1_uc011lhq.1_Silent_p.A71A	p.A71A	NM_138455	NP_612464	Q96CG8	CTHR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		1	312	+			71			Collagen-like.		G3V141|Q6UW91|Q8IX63	Silent	SNP	ENST00000330295.5	37	c.213C>T	CCDS6299.1																																																																																				0.522	CTHRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380792.1	NM_138455	
EPPK1	83481	broad.mit.edu	37	8	144940918	144940918	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr8:144940918G>T	ENST00000525985.1	-	2	6575	c.6504C>A	c.(6502-6504)agC>agA	p.S2168R				P58107	EPIPL_HUMAN	epiplakin 1	2168						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGTGTTTGTTGCTGGTTTCCT	0.507																																						uc003zaa.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6502-6504)agC>agA		Homo sapiens epiplakin 1 (EPPK1), mRNA.							254.0	259.0	257.0					8																	144940918		2069	4204	6273	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940918G>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6504C>A	8.37:g.144940918G>T	ENSP00000436337:p.Ser2168Arg						p.S2168R	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		0	6517	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2168					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6504C>A		.	.	.	.	.	.	.	.	.	.	G	7.857	0.725207	0.15439	.	.	ENSG00000227184	ENST00000525985	T	0.66460	-0.21	4.55	-0.907	0.10521	.	.	.	.	.	T	0.30262	0.0759	N	0.01297	-0.9	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.27297	-1.0078	9	0.11485	T	0.65	.	6.8307	0.23909	0.0:0.2963:0.2247:0.479	.	2168	E9PPU0	.	R	2168	ENSP00000436337:S2168R	ENSP00000436337:S2168R	S	-	3	2	EPPK1	145012906	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.242000	0.08928	-0.015000	0.14150	-0.283000	0.09986	AGC		0.507	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308	
