#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	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
NUMB	8650	broad.mit.edu	37	14	73750946	73750946	+	Silent	SNP	C	C	T			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr14:73750946C>T	ENST00000355058.3	-	10	1070	c.792G>A	c.(790-792)cgG>cgA	p.R264R	NUMB_ENST00000555738.2_Intron|NUMB_ENST00000555394.1_Silent_p.R264R|NUMB_ENST00000554546.1_Silent_p.R253R|NUMB_ENST00000560335.1_Intron|NUMB_ENST00000356296.4_Silent_p.R264R|NUMB_ENST00000554521.2_Intron|NUMB_ENST00000544991.3_Intron|NUMB_ENST00000557597.1_Silent_p.R253R|NUMB_ENST00000454166.4_Intron|NUMB_ENST00000359560.3_Silent_p.R253R|NUMB_ENST00000555238.1_Silent_p.R264R|NUMB_ENST00000559312.1_Intron|NUMB_ENST00000535282.1_Silent_p.R253R|NUMB_ENST00000556772.1_Silent_p.R120R			P49757	NUMB_HUMAN	numb homolog (Drosophila)	264					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|lateral ventricle development (GO:0021670)|lung epithelial cell differentiation (GO:0060487)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein localization to plasma membrane (GO:1903077)|neuroblast division in subventricular zone (GO:0021849)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration (GO:0030335)|positive regulation of neurogenesis (GO:0050769)|positive regulation of polarized epithelial cell differentiation (GO:0030862)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		TTGGAGCATGCCGGCGTGGGA	0.552																																						ENST00000556772.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28						c.(358-360)cgG>cgA		numb homolog (Drosophila)							164.0	149.0	154.0					14																	73750946		2203	4300	6503	SO:0001819	synonymous_variant	8650				axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane		g.chr14:73750946C>T	L40393	CCDS9814.1, CCDS32115.1, CCDS32116.1, CCDS55927.1	14q24.3	2011-11-25	2001-11-28			ENSG00000133961			8060	protein-coding gene	gene with protein product		603728	"""numb (Drosophila) homolog"", ""chromosome 14 open reading frame 41"""	C14orf41			Standard	NM_003744		Approved		uc001xny.1	P49757		ENST00000355058.3:c.792G>A	14.37:g.73750946C>T						NUMB_ENST00000554521.2_Intron|NUMB_ENST00000559312.1_Intron|NUMB_ENST00000557597.1_Silent_p.R253R|NUMB_ENST00000544991.3_Intron|NUMB_ENST00000535282.1_Silent_p.R253R|NUMB_ENST00000554546.1_Silent_p.R253R|NUMB_ENST00000454166.4_Intron|NUMB_ENST00000555394.1_Silent_p.R264R|NUMB_ENST00000555238.1_Silent_p.R264R|NUMB_ENST00000560335.1_Intron|NUMB_ENST00000555738.2_Intron|NUMB_ENST00000359560.3_Silent_p.R253R|NUMB_ENST00000356296.4_Silent_p.R264R|NUMB_ENST00000355058.3_Silent_p.R264R	p.R120R			P49757	NUMB_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)	4	2647	-			264			PID.		B1P2N5|B1P2N6|B1P2N7|B1P2N8|B1P2N9|B4E2B1|Q6NUQ7|Q86SY1|Q8WW73|Q9UBG1|Q9UEQ4|Q9UKE8|Q9UKE9|Q9UKF0|Q9UQJ4	Silent	SNP	ENST00000355058.3	37	c.360G>A	CCDS32116.1																																																																																				0.552	NUMB-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414416.1			4	167	0	0	0	1	0	4	167				
CHAMP1	283489	broad.mit.edu	37	13	115090966	115090966	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr13:115090966T>C	ENST00000361283.1	+	3	1958	c.1649T>C	c.(1648-1650)cTt>cCt	p.L550P		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	550	Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										AAACGTGCCCTTTTTCCAGAG	0.517																																						ENST00000361283.1																			0											c.(1648-1650)cTt>cCt		chromosome alignment maintaining phosphoprotein 1							211.0	240.0	230.0					13																	115090966		2203	4300	6503	SO:0001583	missense	283489				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	g.chr13:115090966T>C	AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"""Zinc fingers, C2H2-type"""	20311	protein-coding gene	gene with protein product	"""chromosome alignment-maintaining phosphoprotein"""		"""chromosome 13 open reading frame 8"", ""zinc finger protein 828"""	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.1649T>C	13.37:g.115090966T>C	ENSP00000354730:p.Leu550Pro						p.L550P	NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN			3	1958	+			550			Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich.		B3KU06|Q6P181|Q8NC88|Q9BST0	Missense_Mutation	SNP	ENST00000361283.1	37	c.1649T>C	CCDS9545.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.020892	0.54576	.	.	ENSG00000198824	ENST00000361283	T	0.01902	4.57	5.59	5.59	0.84812	.	0.000000	0.51477	D	0.000081	T	0.07188	0.0182	M	0.65498	2.005	0.58432	D	0.999996	P	0.51537	0.946	P	0.51777	0.679	T	0.19257	-1.0311	9	.	.	.	-17.4144	14.3423	0.66636	0.0:0.0:0.0:1.0	.	550	Q96JM3	ZN828_HUMAN	P	550	ENSP00000354730:L550P	.	L	+	2	0	ZNF828	114109068	0.995000	0.38212	0.981000	0.43875	0.990000	0.78478	3.159000	0.50731	2.126000	0.65437	0.528000	0.53228	CTT		0.517	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436		5	485	0	0	0	1	0	5	485				
TBCD	6904	broad.mit.edu	37	17	80847559	80847559	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr17:80847559A>G	ENST00000355528.4	+	16	1679	c.1549A>G	c.(1549-1551)Aat>Gat	p.N517D	TBCD_ENST00000539345.2_Missense_Mutation_p.N517D|TBCD_ENST00000397466.2_Missense_Mutation_p.N131D	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	517					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CTTCCAGGAGAATGTGGGGAG	0.502																																						ENST00000355528.4																			0											c.(1549-1551)Aat>Gat		tubulin folding cofactor D							103.0	102.0	103.0					17																	80847559		1974	4159	6133	SO:0001583	missense	6904				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80847559A>G	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.1549A>G	17.37:g.80847559A>G	ENSP00000347719:p.Asn517Asp					TBCD_ENST00000539345.2_Missense_Mutation_p.N517D|TBCD_ENST00000397466.2_Missense_Mutation_p.N131D	p.N517D	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		16	1679	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	517					O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Missense_Mutation	SNP	ENST00000355528.4	37	c.1549A>G	CCDS45818.1	.	.	.	.	.	.	.	.	.	.	a	21.9	4.210295	0.79240	.	.	ENSG00000141556	ENST00000355528;ENST00000334614;ENST00000397466;ENST00000536182	T;T	0.67865	-0.29;-0.29	4.7	4.7	0.59300	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.84570	0.5501	M	0.91300	3.195	0.45318	D	0.998312	D;D;P	0.89917	1.0;1.0;0.877	D;D;P	0.91635	0.998;0.999;0.66	D	0.88066	0.2797	9	.	.	.	.	13.637	0.62227	1.0:0.0:0.0:0.0	.	517;517;517	Q9BTW9;Q9BTW9-4;F5H8C7	TBCD_HUMAN;.;.	D	517;268;131;517	ENSP00000347719:N517D;ENSP00000380608:N131D	.	N	+	1	0	TBCD	78440848	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.545000	0.73883	1.884000	0.54569	0.392000	0.25879	AAT		0.502	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		6	34	0	0	0	1	0	6	34				
MYO18B	84700	broad.mit.edu	37	22	26294373	26294373	+	Missense_Mutation	SNP	G	G	A	rs372589915		TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr22:26294373G>A	ENST00000407587.2	+	29	4940	c.4771G>A	c.(4771-4773)Gtc>Atc	p.V1591I	CTA-125H2.2_ENST00000609809.1_RNA|MYO18B_ENST00000536101.1_Missense_Mutation_p.V1590I|CTA-125H2.2_ENST00000453457.3_RNA|CTA-125H2.2_ENST00000609823.1_RNA|CTA-125H2.2_ENST00000608921.1_RNA|CTA-125H2.2_ENST00000595102.1_RNA|CTA-125H2.2_ENST00000609889.1_RNA|CTA-125H2.2_ENST00000608115.1_RNA|CTA-125H2.2_ENST00000600903.1_RNA|CTA-125H2.2_ENST00000607895.1_RNA|CTA-125H2.2_ENST00000593715.1_RNA|CTA-125H2.2_ENST00000609157.1_RNA|CTA-125H2.2_ENST00000608257.1_RNA|CTA-125H2.2_ENST00000594585.1_RNA|CTA-125H2.2_ENST00000609275.1_RNA|CTA-125H2.2_ENST00000597284.1_RNA|CTA-125H2.2_ENST00000599080.1_RNA|CTA-125H2.2_ENST00000595093.1_RNA|CTA-125H2.2_ENST00000599792.1_RNA|CTA-125H2.2_ENST00000600211.1_RNA|CTA-125H2.2_ENST00000609820.1_RNA|CTA-125H2.2_ENST00000597548.1_RNA|CTA-125H2.2_ENST00000597614.2_RNA|CTA-125H2.2_ENST00000596813.1_RNA|CTA-125H2.2_ENST00000609570.1_RNA|CTA-125H2.2_ENST00000600269.1_RNA|MYO18B_ENST00000335473.7_Missense_Mutation_p.V1590I|CTA-125H2.2_ENST00000594856.1_RNA|CTA-125H2.2_ENST00000594542.1_RNA|CTA-125H2.2_ENST00000608507.1_RNA			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1590	Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGATACCTGCGTCCTGCTAGA	0.527																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(4768-4770)Gtc>Atc		myosin XVIIIB		G	ILE/VAL	0,4150		0,0,2075	131.0	133.0	132.0		4768	-1.3	0.0	22		132	1,8387		0,1,4193	no	missense	MYO18B	NM_032608.5	29	0,1,6268	AA,AG,GG		0.0119,0.0,0.0080	benign	1590/2568	26294373	1,12537	2075	4194	6269	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26294373G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.4771G>A	22.37:g.26294373G>A	ENSP00000386096:p.Val1591Ile					CTA-125H2.2_ENST00000600903.1_RNA|CTA-125H2.2_ENST00000597284.1_RNA|CTA-125H2.2_ENST00000599080.1_RNA|CTA-125H2.2_ENST00000595102.1_RNA|MYO18B_ENST00000407587.2_Missense_Mutation_p.V1591I|CTA-125H2.2_ENST00000594585.1_RNA|CTA-125H2.2_ENST00000594856.1_RNA|CTA-125H2.2_ENST00000600211.1_RNA|CTA-125H2.2_ENST00000453457.2_RNA|CTA-125H2.2_ENST00000599792.1_RNA|CTA-125H2.2_ENST00000597548.1_RNA|CTA-125H2.2_ENST00000594542.1_RNA|MYO18B_ENST00000536101.1_Missense_Mutation_p.V1590I|CTA-125H2.2_ENST00000600269.1_RNA	p.V1590I	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			29	5018	+			1590			Tail.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.4768G>A		.	.	.	.	.	.	.	.	.	.	G	11.31	1.600744	0.28534	0.0	1.19E-4	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;T	0.86694	-2.16;-2.16;-1.13	5.9	-1.31	0.09230	.	0.476618	0.19321	N	0.117153	T	0.74099	0.3672	L	0.50333	1.59	0.09310	N	0.999999	P;P;B;P	0.40180	0.573;0.581;0.275;0.705	B;B;B;B	0.26693	0.045;0.033;0.021;0.072	T	0.66333	-0.5950	10	0.59425	D	0.04	.	3.2027	0.06655	0.1444:0.2353:0.4748:0.1455	.	1103;1590;1591;1590	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	I	1590;1590;1591	ENSP00000441229:V1590I;ENSP00000334563:V1590I;ENSP00000386096:V1591I	ENSP00000334563:V1590I	V	+	1	0	MYO18B	24624373	0.987000	0.35691	0.036000	0.18154	0.435000	0.31806	1.942000	0.40243	-0.119000	0.11830	-0.136000	0.14681	GTC		0.527	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		53	99	0	0	0	1	0	53	99				
CCDC85A	114800	broad.mit.edu	37	2	56419681	56419681	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr2:56419681C>T	ENST00000407595.2	+	2	848	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	116										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GGATGATGACCGGCAGAAAGG	0.527																																						ENST00000407595.2																			0				breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38						c.(346-348)Cgg>Tgg		coiled-coil domain containing 85A							77.0	84.0	82.0					2																	56419681		1973	4161	6134	SO:0001583	missense	114800							g.chr2:56419681C>T	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.346C>T	2.37:g.56419681C>T	ENSP00000384040:p.Arg116Trp					RP11-482H16.1_ENST00000607540.1_RNA	p.R116W	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		2	848	+			116						Missense_Mutation	SNP	ENST00000407595.2	37	c.346C>T	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294470	0.60086	.	.	ENSG00000055813	ENST00000407595	.	.	.	5.27	3.23	0.37069	.	0.051335	0.85682	D	0.000000	T	0.80037	0.4550	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84428	0.0575	9	0.87932	D	0	-27.2196	15.6135	0.76748	0.3706:0.6294:0.0:0.0	.	116	Q96PX6	CC85A_HUMAN	W	116	.	ENSP00000384040:R116W	R	+	1	2	CCDC85A	56273185	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.360000	0.34125	1.189000	0.43028	0.655000	0.94253	CGG		0.527	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			28	56	0	0	0	1	0	28	56				
GCNT2	2651	broad.mit.edu	37	6	10529594	10529594	+	Silent	SNP	T	T	A			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr6:10529594T>A	ENST00000379597.3	+	1	1006	c.450T>A	c.(448-450)gcT>gcA	p.A150A	GCNT2_ENST00000495262.1_Silent_p.A150A|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	150					maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TCCCAAATGCTTTTCTGGCTT	0.512																																						ENST00000379597.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12						c.(448-450)gcT>gcA		glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)							67.0	62.0	63.0					6																	10529594		2203	4300	6503	SO:0001819	synonymous_variant	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10529594T>A	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.450T>A	6.37:g.10529594T>A						GCNT2_ENST00000495262.1_Silent_p.A150A|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron	p.A150A			Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	1	1006	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	150						Silent	SNP	ENST00000379597.3	37	c.450T>A	CCDS34338.1																																																																																				0.512	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		39	56	0	0	0	1	0	39	56				
TEX37	200523	broad.mit.edu	37	2	88826009	88826009	+	Silent	SNP	G	G	A			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr2:88826009G>A	ENST00000303254.3	+	3	256	c.114G>A	c.(112-114)ccG>ccA	p.P38P		NM_152670.2	NP_689883.1	Q96LM6	TEX37_HUMAN	testis expressed 37	38						nucleus (GO:0005634)											GGGTCACGCCGCAAGAGGTAG	0.478																																						ENST00000303254.3																			0											c.(112-114)ccG>ccA		testis expressed 37							106.0	84.0	92.0					2																	88826009		2203	4300	6503	SO:0001819	synonymous_variant	200523							g.chr2:88826009G>A	AK058098	CCDS2003.1	2p11.2	2014-01-28	2012-09-14	2012-09-14	ENSG00000172073	ENSG00000172073			26341	protein-coding gene	gene with protein product	"""Testis-Specific Conserved gene 21kDa"""		"""chromosome 2 open reading frame 51"""	C2orf51		17091336	Standard	NM_152670		Approved	FLJ25369, TSC21	uc002stb.2	Q96LM6	OTTHUMG00000130332	ENST00000303254.3:c.114G>A	2.37:g.88826009G>A							p.P38P	NM_152670.2	NP_689883.1					3	256	+									Silent	SNP	ENST00000303254.3	37	c.114G>A	CCDS2003.1																																																																																				0.478	TEX37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252682.1	NM_152670		5	35	0	0	0	1	0	5	35				
DNAJC28	54943	broad.mit.edu	37	21	34861298	34861298	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr21:34861298G>A	ENST00000314399.3	-	2	841	c.403C>T	c.(403-405)Cat>Tat	p.H135Y	DNAJC28_ENST00000381947.3_Missense_Mutation_p.H135Y|DNAJC28_ENST00000402202.1_Missense_Mutation_p.H135Y	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	135										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						CTTAAATAATGTCGGTGTTGG	0.403																																						ENST00000314399.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						c.(403-405)Cat>Tat		DnaJ (Hsp40) homolog, subfamily C, member 28							109.0	96.0	101.0					21																	34861298		2203	4300	6503	SO:0001583	missense	54943						heat shock protein binding	g.chr21:34861298G>A	AK000468	CCDS13626.1	21q22.11	2011-09-02	2008-06-17	2008-06-17	ENSG00000177692	ENSG00000177692		"""Heat shock proteins / DNAJ (HSP40)"""	1297	protein-coding gene	gene with protein product	"""Orf28"""		"""chromosome 21 open reading frame 55"""	C21orf55			Standard	NM_017833		Approved	C21orf78	uc002yrw.3	Q9NX36	OTTHUMG00000065531	ENST00000314399.3:c.403C>T	21.37:g.34861298G>A	ENSP00000320303:p.His135Tyr					DNAJC28_ENST00000402202.1_Missense_Mutation_p.H135Y|DNAJC28_ENST00000381947.3_Missense_Mutation_p.H135Y	p.H135Y	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN			2	841	-			135					D3DSF2	Missense_Mutation	SNP	ENST00000314399.3	37	c.403C>T	CCDS13626.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976890	0.74360	.	.	ENSG00000177692	ENST00000381947;ENST00000314399;ENST00000402202	T;T;T	0.54866	0.55;0.55;0.55	5.38	5.38	0.77491	.	0.048758	0.85682	D	0.000000	T	0.73583	0.3605	M	0.83692	2.655	0.47183	D	0.999344	D	0.89917	1.0	D	0.66716	0.946	T	0.73078	-0.4096	10	0.33141	T	0.24	-13.9707	17.9044	0.88914	0.0:0.0:1.0:0.0	.	135	Q9NX36	DJC28_HUMAN	Y	135	ENSP00000371373:H135Y;ENSP00000320303:H135Y;ENSP00000385777:H135Y	ENSP00000320303:H135Y	H	-	1	0	DNAJC28	33783168	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.181000	0.94874	2.530000	0.85305	0.655000	0.94253	CAT		0.403	DNAJC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140454.3			16	48	0	0	0	1	0	16	48				
CD1C	911	broad.mit.edu	37	1	158260938	158260938	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr1:158260938G>A	ENST00000368170.3	+	2	355	c.76G>A	c.(76-78)Gtc>Atc	p.V26I		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	26					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					CCAGGAACACGTCTCCTTCCA	0.483																																						ENST00000368170.3																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39						c.(76-78)Gtc>Atc		CD1c molecule							70.0	60.0	64.0					1																	158260938		2203	4300	6503	SO:0001583	missense	911				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	g.chr1:158260938G>A	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1636	protein-coding gene	gene with protein product		188340	"""CD1C antigen, c polypeptide"", ""CD1c antigen"""	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.76G>A	1.37:g.158260938G>A	ENSP00000357152:p.Val26Ile						p.V26I	NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN			2	355	+	all_hematologic(112;0.0378)		26					Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP	ENST00000368170.3	37	c.76G>A	CCDS1175.1	.	.	.	.	.	.	.	.	.	.	-	0.011	-1.714147	0.00706	.	.	ENSG00000158481	ENST00000368169;ENST00000368170	T	0.06142	3.34	3.32	-0.372	0.12520	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.051030	0.07613	N	0.925743	T	0.00440	0.0014	N	0.01405	-0.89	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.46555	-0.9183	10	0.02654	T	1	.	3.3717	0.07223	0.4424:0.2865:0.2711:0.0	.	26	P29017	CD1C_HUMAN	I	26	ENSP00000357152:V26I	ENSP00000357151:V26I	V	+	1	0	CD1C	156527562	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-1.950000	0.01530	-0.086000	0.12550	-0.312000	0.09012	GTC		0.483	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		18	44	0	0	0	1	0	18	44				
UBR4	23352	broad.mit.edu	37	1	19403307	19403307	+	Silent	SNP	G	G	T			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr1:19403307G>T	ENST00000375254.3	-	105	15441	c.15414C>A	c.(15412-15414)gcC>gcA	p.A5138A	UBR4_ENST00000543981.1_Silent_p.A802A|UBR4_ENST00000375217.2_Silent_p.A5131A|UBR4_ENST00000429347.2_Silent_p.A661A|UBR4_ENST00000375224.1_Silent_p.A845A|UBR4_ENST00000375225.3_Silent_p.A213A|UBR4_ENST00000375226.2_Silent_p.A5114A|UBR4_ENST00000375267.2_Silent_p.A5159A|RP5-1126H10.2_ENST00000606379.1_RNA	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	5138					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGGCTTTGTCGGCAGCTTCGT	0.522																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(15475-15477)gcC>gcA		ubiquitin protein ligase E3 component n-recognin 4							208.0	186.0	193.0					1																	19403307		2203	4300	6503	SO:0001819	synonymous_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19403307G>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.15414C>A	1.37:g.19403307G>T						UBR4_ENST00000375254.3_Silent_p.A5138A|UBR4_ENST00000375217.2_Silent_p.A5131A|UBR4_ENST00000375226.2_Silent_p.A5114A|UBR4_ENST00000375224.1_Silent_p.A845A|UBR4_ENST00000429347.2_Silent_p.A661A|UBR4_ENST00000375225.3_Silent_p.A213A|UBR4_ENST00000543981.1_Silent_p.A802A	p.A5159A			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	106	15480	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	5138					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	c.15477C>A	CCDS189.1																																																																																				0.522	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		73	167	1	0	5.04879e-28	1	5.89025e-28	73	167				
SELP	6403	broad.mit.edu	37	1	169586560	169586560	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr1:169586560G>A	ENST00000263686.6	-	3	224	c.187C>T	c.(187-189)Cgc>Tgc	p.R63C	SELP_ENST00000367794.2_Missense_Mutation_p.R63C|SELP_ENST00000367788.2_Missense_Mutation_p.R63C|SELP_ENST00000367786.2_Missense_Mutation_p.R63C|SELP_ENST00000367793.2_Missense_Mutation_p.R63C|SELP_ENST00000367791.2_Missense_Mutation_p.R63C|SELP_ENST00000458599.2_Missense_Mutation_p.R63C|SELP_ENST00000367792.2_Missense_Mutation_p.R63C	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	63	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)	p.R63C(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	TCTGTGTAGCGATTCTGGCAG	0.403																																						ENST00000263686.6																			1	Substitution - Missense(1)	p.R63C(1)	skin(1)	breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(187-189)Cgc>Tgc		selectin P (granule membrane protein 140kDa, antigen CD62)	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						157.0	144.0	148.0					1																	169586560		2203	4300	6503	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169586560G>A	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.187C>T	1.37:g.169586560G>A	ENSP00000263686:p.Arg63Cys					SELP_ENST00000458599.2_Missense_Mutation_p.R63C|SELP_ENST00000367788.2_Missense_Mutation_p.R63C|SELP_ENST00000367791.2_Missense_Mutation_p.R63C|SELP_ENST00000367792.2_Missense_Mutation_p.R63C|SELP_ENST00000367786.2_Missense_Mutation_p.R63C|SELP_ENST00000367794.2_Missense_Mutation_p.R63C|SELP_ENST00000367793.2_Missense_Mutation_p.R63C	p.R63C	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN			3	224	-	all_hematologic(923;0.208)		63			C-type lectin.		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.187C>T	CCDS1282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.46|10.46	1.356678|1.356678	0.24598|0.24598	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599|ENST00000446728	T;T;T;T;T;T;T|.	0.19250|.	2.16;2.16;2.16;2.16;2.16;2.16;2.16|.	5.77|5.77	-3.25|-3.25	0.05079|0.05079	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);|.	1.497470|.	0.04283|.	N|.	0.344200|.	T|T	0.36138|0.36138	0.0956|0.0956	M|M	0.83223|0.83223	2.63|2.63	0.09310|0.09310	N|N	1|1	D;D|.	0.60160|.	0.987;0.977|.	P;P|.	0.55923|.	0.787;0.787|.	T|T	0.48570|0.48570	-0.9024|-0.9024	10|5	0.39692|.	T|.	0.17|.	-5.2149|-5.2149	6.549|6.549	0.22423|0.22423	0.2254:0.0:0.5243:0.2502|0.2254:0.0:0.5243:0.2502	.|.	63;63|.	Q6NUL9;P16109|.	.;LYAM3_HUMAN|.	C|L	63;63;62;63;63;63;63;63;63;63;63;63;48|62	ENSP00000263686:R63C;ENSP00000356767:R63C;ENSP00000356768:R63C;ENSP00000356766:R63C;ENSP00000356765:R63C;ENSP00000356762:R63C;ENSP00000356760:R63C|.	ENSP00000263686:R63C|.	R|S	-|-	1|2	0|0	SELP|SELP	167853184|167853184	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	-0.249000|-0.249000	0.08842|0.08842	-0.882000|-0.882000	0.03987|0.03987	0.467000|0.467000	0.42956|0.42956	CGC|TCG		0.403	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		66	130	0	0	0	1	0	66	130				
IL17A	3605	broad.mit.edu	37	6	52053926	52053926	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr6:52053926G>A	ENST00000340057.1	+	3	349	c.304G>A	c.(304-306)Gct>Act	p.A102T		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	102					apoptotic process (GO:0006915)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|fibroblast activation (GO:0072537)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein glycosylation (GO:0006486)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					CTGCATCAACGCTGATGGGAA	0.582																																						ENST00000340057.1																			0				endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17						c.(304-306)Gct>Act		interleukin 17A							86.0	72.0	77.0					6																	52053926		2203	4300	6503	SO:0001583	missense	3605				apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity	g.chr6:52053926G>A	U32659	CCDS4937.1	6p12	2011-07-14	2006-04-26	2006-04-26	ENSG00000112115	ENSG00000112115		"""Interleukins and interleukin receptors"""	5981	protein-coding gene	gene with protein product	"""cytotoxic T-lymphocyte-associated protein 8"""	603149	"""interleukin 17 (cytotoxic T-lymphocyte-associated serine esterase 8)"""	CTLA8, IL17		8390535	Standard	NM_002190		Approved	IL-17A, IL-17	uc003pak.1	Q16552	OTTHUMG00000014840	ENST00000340057.1:c.304G>A	6.37:g.52053926G>A	ENSP00000344192:p.Ala102Thr						p.A102T	NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN			3	349	+	Lung NSC(77;0.116)		102					Q5T2P0	Missense_Mutation	SNP	ENST00000340057.1	37	c.304G>A	CCDS4937.1	.	.	.	.	.	.	.	.	.	.	G	9.554	1.116567	0.20795	.	.	ENSG00000112115	ENST00000340057	T	0.56275	0.47	5.51	2.58	0.30949	.	0.700993	0.14364	N	0.324253	T	0.25680	0.0625	M	0.65975	2.015	0.09310	N	1	B	0.23442	0.085	B	0.14578	0.011	T	0.26395	-1.0104	10	0.48119	T	0.1	-1.7893	5.1803	0.15156	0.0729:0.3286:0.417:0.1815	.	102	Q16552	IL17_HUMAN	T	102	ENSP00000344192:A102T	ENSP00000344192:A102T	A	+	1	0	IL17A	52161885	0.000000	0.05858	0.001000	0.08648	0.087000	0.18053	-0.131000	0.10482	0.221000	0.20879	0.511000	0.50034	GCT		0.582	IL17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040892.1	NM_002190		25	28	0	0	0	1	0	25	28				
DDX4	54514	broad.mit.edu	37	5	55094308	55094308	+	Silent	SNP	G	G	A			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr5:55094308G>A	ENST00000505374.1	+	18	1616	c.1524G>A	c.(1522-1524)gtG>gtA	p.V508V	DDX4_ENST00000353507.5_Silent_p.V474V|DDX4_ENST00000354991.5_Silent_p.V474V|DDX4_ENST00000511853.1_Silent_p.V359V|DDX4_ENST00000514278.2_Silent_p.V488V	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	508					male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TTGGACAAGTGGGTGGAGCAT	0.393																																						ENST00000505374.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(1522-1524)gtG>gtA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 4							166.0	164.0	164.0					5																	55094308		2203	4300	6503	SO:0001819	synonymous_variant	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55094308G>A	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"""DEAD-boxes"""	18700	protein-coding gene	gene with protein product		605281	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"""			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.1524G>A	5.37:g.55094308G>A						DDX4_ENST00000511853.1_Silent_p.V359V|DDX4_ENST00000354991.5_Silent_p.V474V|DDX4_ENST00000514278.2_Silent_p.V488V|DDX4_ENST00000353507.5_Silent_p.V474V	p.V508V	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN			18	1616	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	508					A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Silent	SNP	ENST00000505374.1	37	c.1524G>A	CCDS3969.1																																																																																				0.393	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		27	101	0	0	0	1	0	27	101				
PARP1	142	broad.mit.edu	37	1	226555255	226555255	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr1:226555255G>A	ENST00000366794.5	-	17	2475	c.2332C>T	c.(2332-2334)Ctc>Ttc	p.L778F	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	778	PARP alpha-helical. {ECO:0000255|PROSITE- ProRule:PRU00398}.				base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CCTCCCCTGAGCAGACTGTAG	0.512								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000366794.5																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44						c.(2332-2334)Ctc>Ttc	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 1							157.0	136.0	143.0					1																	226555255		2203	4300	6503	SO:0001583	missense	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226555255G>A	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.2332C>T	1.37:g.226555255G>A	ENSP00000355759:p.Leu778Phe					PARP1_ENST00000490921.1_5'UTR	p.L778F	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	17	2475	-	Breast(184;0.133)		778			PARP alpha-helical.		B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	ENST00000366794.5	37	c.2332C>T	CCDS1554.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.697460	0.88830	.	.	ENSG00000143799	ENST00000366794	T	0.14022	2.54	5.56	5.56	0.83823	Poly(ADP-ribose) polymerase, regulatory domain (4);	0.000000	0.85682	D	0.000000	T	0.40862	0.1134	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.34403	-0.9830	10	0.72032	D	0.01	.	12.8111	0.57639	0.0746:0.0:0.9254:0.0	.	778	P09874	PARP1_HUMAN	F	778	ENSP00000355759:L778F	ENSP00000355759:L778F	L	-	1	0	PARP1	224621878	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.411000	0.73298	2.626000	0.88956	0.655000	0.94253	CTC		0.512	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		38	71	0	0	0	1	0	38	71				
ZNF827	152485	broad.mit.edu	37	4	146824152	146824152	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr4:146824152C>A	ENST00000508784.1	-	2	486	c.259G>T	c.(259-261)Gac>Tac	p.D87Y	ZNF827_ENST00000379448.4_Missense_Mutation_p.D87Y|ZNF827_ENST00000513320.1_Intron			Q17R98	ZN827_HUMAN	zinc finger protein 827	87					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					ACCTCACTGTCCAGTGCCACC	0.602																																						ENST00000508784.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(259-261)Gac>Tac		zinc finger protein 827							72.0	63.0	66.0					4																	146824152		2203	4300	6503	SO:0001583	missense	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146824152C>A	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.259G>T	4.37:g.146824152C>A	ENSP00000421863:p.Asp87Tyr					ZNF827_ENST00000379448.4_Missense_Mutation_p.D87Y|ZNF827_ENST00000513320.1_Intron	p.D87Y			Q17R98	ZN827_HUMAN			2	486	-	all_hematologic(180;0.151)		87					B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	ENST00000508784.1	37	c.259G>T		.	.	.	.	.	.	.	.	.	.	C	11.61	1.690427	0.29962	.	.	ENSG00000151612	ENST00000508784;ENST00000379448;ENST00000281318	T;T	0.11385	2.78;2.82	5.93	5.09	0.68999	.	0.086220	0.85682	D	0.000000	T	0.15696	0.0378	N	0.19112	0.55	0.53688	D	0.999979	P;P	0.51537	0.911;0.946	P;P	0.55161	0.594;0.77	T	0.02885	-1.1098	10	0.87932	D	0	-26.0842	15.1601	0.72778	0.0:0.9325:0.0:0.0675	.	87;87	Q17R98;Q17R98-2	ZN827_HUMAN;.	Y	87;87;86	ENSP00000421863:D87Y;ENSP00000368761:D87Y	ENSP00000281318:D86Y	D	-	1	0	ZNF827	147043602	1.000000	0.71417	0.051000	0.19133	0.328000	0.28507	7.416000	0.80143	1.524000	0.49035	-0.258000	0.10820	GAC		0.602	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		27	40	1	0	1.1804e-14	1	1.32795e-14	27	40				
UBAP2	55833	broad.mit.edu	37	9	33923825	33923825	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr9:33923825G>A	ENST00000379238.1	-	24	2881	c.2764C>T	c.(2764-2766)Ccc>Tcc	p.P922S	UBAP2_ENST00000539807.1_Missense_Mutation_p.P677S|UBAP2_ENST00000379235.1_Missense_Mutation_p.P161S|UBAP2_ENST00000449054.1_Missense_Mutation_p.P922S|UBAP2_ENST00000379239.4_Missense_Mutation_p.P655S|UBAP2_ENST00000360802.1_Missense_Mutation_p.P922S					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		AAGGCACTGGGCATGCCTGTG	0.572																																						ENST00000379238.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32						c.(2764-2766)Ccc>Tcc		ubiquitin associated protein 2							197.0	156.0	170.0					9																	33923825		2203	4300	6503	SO:0001583	missense	55833							g.chr9:33923825G>A	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.2764C>T	9.37:g.33923825G>A	ENSP00000368540:p.Pro922Ser					UBAP2_ENST00000360802.1_Missense_Mutation_p.P922S|UBAP2_ENST00000379239.4_Missense_Mutation_p.P655S|UBAP2_ENST00000539807.1_Missense_Mutation_p.P677S|UBAP2_ENST00000449054.1_Missense_Mutation_p.P922S|UBAP2_ENST00000379235.1_Missense_Mutation_p.P161S	p.P922S			Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	24	2881	-			922						Missense_Mutation	SNP	ENST00000379238.1	37	c.2764C>T	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.451786	0.63290	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379235;ENST00000379239;ENST00000539807;ENST00000351580	T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.62672	0.2447	M	0.82323	2.585	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.997	T	0.65026	-0.6268	10	0.72032	D	0.01	-19.5347	20.3214	0.98679	0.0:0.0:1.0:0.0	.	847;677;655;831;922	F5H4D5;F5H2U4;A6NCA8;F5H2C8;Q5T6F2	.;.;.;.;UBAP2_HUMAN	S	922;922;922;831;161;655;677;356	ENSP00000368540:P922S;ENSP00000416932:P922S;ENSP00000354039:P922S;ENSP00000368537:P161S;ENSP00000368541:P655S;ENSP00000439329:P677S	ENSP00000259602:P356S	P	-	1	0	UBAP2	33913825	1.000000	0.71417	1.000000	0.80357	0.370000	0.29829	9.434000	0.97515	2.804000	0.96469	0.655000	0.94253	CCC		0.572	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		34	70	0	0	0	1	0	34	70				
XG	7499	broad.mit.edu	37	X	2726251	2726251	+	Silent	SNP	C	C	T			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chrX:2726251C>T	ENST00000381174.5	+	8	624	c.399C>T	c.(397-399)ggC>ggT	p.G133G	XG_ENST00000426774.1_Silent_p.G134G|XG_ENST00000419513.2_Silent_p.G148G			P55808	XG_HUMAN	Xg blood group	133						integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CAACGTATGGCAATCCAGAAG	0.493																																						ENST00000426774.1																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8						c.(400-402)ggC>ggT		Xg blood group							120.0	86.0	97.0					X																	2726251		2203	4298	6501	SO:0001819	synonymous_variant	7499					integral to membrane|plasma membrane		g.chrX:2726251C>T	AF380356	CCDS14120.1, CCDS48073.1	Xp22.32	2014-07-19	2006-01-12		ENSG00000124343	ENSG00000124343		"""Blood group antigens"", ""Pseudoautosomal regions / PAR1"""	12806	protein-coding gene	gene with protein product		300879	"""Xg blood group (pseudoautosomal boundary-divided on the X chromosome)"""	PBDX		8054981	Standard	NM_175569		Approved		uc004cqp.3	P55808	OTTHUMG00000021075	ENST00000381174.5:c.399C>T	X.37:g.2726251C>T						XG_ENST00000381174.5_Silent_p.G133G|XG_ENST00000419513.2_Silent_p.G148G	p.G134G	NM_001141920.1|NM_175569.2	NP_001135392.1|NP_780778.1	P55808	XG_HUMAN			8	625	+		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	133					E9PCH1|Q496N8|Q496N9|Q496P0|Q71BZ5	Silent	SNP	ENST00000381174.5	37	c.402C>T	CCDS14120.1																																																																																				0.493	XG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055633.2	NM_175569		3	22	0	0	0	1	0	3	22				
KRTAP4-7	100132476	broad.mit.edu	37	17	39240627	39240627	+	Missense_Mutation	SNP	T	T	C	rs189343211		TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr17:39240627T>C	ENST00000391417.4	+	1	169	c.169T>C	c.(169-171)Tct>Cct	p.S57P		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	57	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.S57P(4)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						GTGCTGCCAGTCTGTGTGCTG	0.667																																						ENST00000391417.4																			4	Substitution - Missense(4)	p.S57P(4)	urinary_tract(2)|kidney(2)	NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(169-171)Tct>Cct		keratin associated protein 4-7							18.0	28.0	25.0					17																	39240627		691	1590	2281	SO:0001583	missense	100132476							g.chr17:39240627T>C	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.169T>C	17.37:g.39240627T>C	ENSP00000375236:p.Ser57Pro						p.S57P	NM_033061.3	NP_149050.3					1	169	+								A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	c.169T>C	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	0.387	-0.925721	0.02377	.	.	ENSG00000240871;ENSG00000212722	ENST00000391417;ENST00000377734	T	0.01272	5.07	3.6	-0.386	0.12466	.	1.254490	0.05892	N	0.628448	T	0.00695	0.0023	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.43572	-0.9383	9	0.02654	T	1	.	4.4551	0.11639	0.0:0.4346:0.1731:0.3923	.	57	Q9BYR0	KRA47_HUMAN	P	57	ENSP00000375236:S57P	ENSP00000375236:S57P	S	+	1	0	KRTAP4-9;KRTAP4-7	36494153	0.000000	0.05858	0.033000	0.17914	0.157000	0.22087	-0.806000	0.04525	0.004000	0.14682	0.374000	0.22700	TCT		0.667	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			4	86	0	0	0	1	0	4	86				
COIL	8161	broad.mit.edu	37	17	55038183	55038183	+	Missense_Mutation	SNP	C	C	G	rs201582973		TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr17:55038183C>G	ENST00000240316.4	-	1	232	c.198G>C	c.(196-198)ttG>ttC	p.L66F		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	66						Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					CGGCGGGGGGCAAGAGCCCCC	0.697																																						ENST00000240316.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15						c.(196-198)ttG>ttC		coilin																																				SO:0001583	missense	8161					Cajal body|nucleolus	protein C-terminus binding	g.chr17:55038183C>G	U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.198G>C	17.37:g.55038183C>G	ENSP00000240316:p.Leu66Phe						p.L66F	NM_004645.2	NP_004636.1	P38432	COIL_HUMAN			1	232	-	Breast(9;6.15e-08)		66					B2R931	Missense_Mutation	SNP	ENST00000240316.4	37	c.198G>C	CCDS11592.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280674	0.80692	.	.	ENSG00000121058	ENST00000240316	T	0.53640	0.61	4.32	2.16	0.27623	.	0.000000	0.64402	D	0.000001	T	0.63367	0.2505	M	0.74647	2.275	0.53688	D	0.999979	D	0.89917	1.0	D	0.87578	0.998	T	0.65434	-0.6169	10	0.87932	D	0	-7.22	8.381	0.32472	0.0:0.7562:0.1558:0.088	.	66	P38432	COIL_HUMAN	F	66	ENSP00000240316:L66F	ENSP00000240316:L66F	L	-	3	2	COIL	52393182	1.000000	0.71417	0.994000	0.49952	0.960000	0.62799	1.914000	0.39966	1.178000	0.42870	0.455000	0.32223	TTG		0.697	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440618.1			7	10	0	0	0	1	0	7	10				
AGTR1	185	broad.mit.edu	37	3	148459144	148459144	+	Missense_Mutation	SNP	G	G	A	rs373362261		TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr3:148459144G>A	ENST00000497524.1	+	2	713	c.322G>A	c.(322-324)Gtc>Atc	p.V108I	AGTR1_ENST00000418473.2_Missense_Mutation_p.V108I|AGTR1_ENST00000349243.3_Missense_Mutation_p.V108I|AGTR1_ENST00000461609.1_Missense_Mutation_p.V108I|AGTR1_ENST00000404754.2_Missense_Mutation_p.V108I|AGTR1_ENST00000474935.1_Missense_Mutation_p.V108I|AGTR1_ENST00000475347.1_Missense_Mutation_p.V108I|AGTR1_ENST00000542281.1_Missense_Mutation_p.V108I|AGTR1_ENST00000402260.1_Missense_Mutation_p.V108I	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	108					angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	TTCAGCCAGCGTCAGTTTCAA	0.478																																						ENST00000542281.1																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(322-324)Gtc>Atc		angiotensin II receptor, type 1	Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	95.0	92.0	93.0		322,322,322,322,322	2.2	1.0	3		93	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	AGTR1	NM_000685.4,NM_004835.3,NM_009585.3,NM_031850.2,NM_032049.2	29,29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	108/360,108/360,108/360,108/360,108/360	148459144	1,13005	2203	4300	6503	SO:0001583	missense	185				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	g.chr3:148459144G>A	M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"""GPCR / Class A : Angiotensin receptors"""	336	protein-coding gene	gene with protein product		106165	"""angiotensin receptor 1B"""	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.322G>A	3.37:g.148459144G>A	ENSP00000419422:p.Val108Ile					AGTR1_ENST00000404754.2_Missense_Mutation_p.V108I|AGTR1_ENST00000474935.1_Missense_Mutation_p.V108I|AGTR1_ENST00000475347.1_Missense_Mutation_p.V108I|AGTR1_ENST00000497524.1_Missense_Mutation_p.V108I|AGTR1_ENST00000461609.1_Missense_Mutation_p.V108I|AGTR1_ENST00000349243.3_Missense_Mutation_p.V108I|AGTR1_ENST00000402260.1_Missense_Mutation_p.V108I|AGTR1_ENST00000418473.2_Missense_Mutation_p.V108I	p.V108I	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		4	768	+			108					Q13725|Q8TBK4	Missense_Mutation	SNP	ENST00000497524.1	37	c.322G>A	CCDS3137.1	.	.	.	.	.	.	.	.	.	.	G	4.361	0.066561	0.08388	0.0	1.16E-4	ENSG00000144891	ENST00000497524;ENST00000349243;ENST00000542281;ENST00000418473;ENST00000404754;ENST00000475347;ENST00000474935;ENST00000461609;ENST00000402260	T;T;T;T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24	5.48	2.24	0.28232	GPCR, rhodopsin-like superfamily (1);	0.470389	0.21792	N	0.069041	T	0.13030	0.0316	N	0.02802	-0.49	0.22754	N	0.998774	B	0.02656	0.0	B	0.06405	0.002	T	0.30001	-0.9993	10	0.09338	T	0.73	-11.4653	9.24	0.37491	0.3835:0.0:0.6165:0.0	.	108	P30556	AGTR1_HUMAN	I	108	ENSP00000419422:V108I;ENSP00000273430:V108I;ENSP00000443186:V108I;ENSP00000398832:V108I;ENSP00000385612:V108I;ENSP00000419783:V108I;ENSP00000418084:V108I;ENSP00000418851:V108I;ENSP00000385641:V108I	ENSP00000273430:V108I	V	+	1	0	AGTR1	149941834	1.000000	0.71417	0.972000	0.41901	0.995000	0.86356	3.436000	0.52856	0.674000	0.31244	0.655000	0.94253	GTC		0.478	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355807.1			50	80	0	0	0	1	0	50	80				
GOLGA6L17P	642402	broad.mit.edu	37	15	85053124	85053124	+	RNA	SNP	G	G	T	rs192508624	byFrequency	TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr15:85053124G>T	ENST00000414190.2	-	0	328					NR_003246.2																						TAAATGTTTTGTTTTTTTTTT	0.353																																						ENST00000414190.2																			0																																																			0							g.chr15:85053124G>T																													15.37:g.85053124G>T								NR_003246.2						0	328	-									RNA	SNP	ENST00000414190.2	37																																																																																						0.353	GOLGA6L5-003	KNOWN	mRNA_end_NF|basic	processed_transcript	pseudogene	OTTHUMT00000418579.1			6	20	1	0	0.0215528	1	0.023014	6	20				
CFAP53	220136	broad.mit.edu	37	18	47753887	47753887	+	Missense_Mutation	SNP	C	C	T	rs147186159		TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr18:47753887C>T	ENST00000398545.4	-	8	1526	c.1409G>A	c.(1408-1410)cGc>cAc	p.R470H		NM_145020.3	NP_659457.2														endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		AAACTCTCGGCGTTTCTCTTC	0.502																																						ENST00000398545.4																			0				endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20						c.(1408-1410)cGc>cAc		coiled-coil domain containing 11							241.0	239.0	240.0					18																	47753887		2009	4174	6183	SO:0001583	missense	220136							g.chr18:47753887C>T																												ENST00000398545.4:c.1409G>A	18.37:g.47753887C>T	ENSP00000381553:p.Arg470His						p.R470H	NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN		STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)	8	1526	-			470						Missense_Mutation	SNP	ENST00000398545.4	37	c.1409G>A	CCDS11940.2	.	.	.	.	.	.	.	.	.	.	C	16.41	3.116355	0.56505	.	.	ENSG00000172361	ENST00000398545	T	0.10477	2.87	5.38	5.38	0.77491	.	0.129638	0.51477	D	0.000092	T	0.24967	0.0606	L	0.50333	1.59	0.36085	D	0.843068	D	0.89917	1.0	D	0.91635	0.999	T	0.07083	-1.0791	10	0.15066	T	0.55	-5.2134	14.9816	0.71316	0.0:1.0:0.0:0.0	.	470	Q96M91	CCD11_HUMAN	H	470	ENSP00000381553:R470H	ENSP00000381553:R470H	R	-	2	0	CCDC11	46007885	0.846000	0.29590	0.960000	0.40013	0.968000	0.65278	0.563000	0.23547	2.688000	0.91661	0.650000	0.86243	CGC		0.502	CCDC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255922.3			28	157	0	0	0	1	0	28	157				
LTBR	4055	broad.mit.edu	37	12	6494476	6494476	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr12:6494476T>G	ENST00000228918.4	+	4	729	c.403T>G	c.(403-405)Tgg>Ggg	p.W135G	LTBR_ENST00000543190.1_Missense_Mutation_p.W28G|LTBR_ENST00000539925.1_Missense_Mutation_p.W116G|LTBR_ENST00000541102.1_Missense_Mutation_p.W28G	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	135					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						CTGTGCTGCCTGGGCCCTCGA	0.622																																						ENST00000228918.4																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						c.(403-405)Tgg>Ggg		lymphotoxin beta receptor (TNFR superfamily, member 3)							53.0	56.0	55.0					12																	6494476		2203	4300	6503	SO:0001583	missense	4055				apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity	g.chr12:6494476T>G	L04270	CCDS8544.1, CCDS59233.1	12p13	2013-05-22				ENSG00000111321		"""Tumor necrosis factor receptor superfamily"""	6718	protein-coding gene	gene with protein product		600979		D12S370		8171323, 8486360	Standard	NM_002342		Approved	TNFCR, TNFR-RP, TNFR2-RP, TNF-R-III, TNFRSF3	uc001qny.2	P36941		ENST00000228918.4:c.403T>G	12.37:g.6494476T>G	ENSP00000228918:p.Trp135Gly					LTBR_ENST00000541102.1_Missense_Mutation_p.W28G|LTBR_ENST00000543190.1_Missense_Mutation_p.W28G|LTBR_ENST00000539925.1_Missense_Mutation_p.W116G	p.W135G	NM_002342.1	NP_002333.1	P36941	TNR3_HUMAN			4	729	+			135					B7Z1D2|D3DUR2|F5GXE7	Missense_Mutation	SNP	ENST00000228918.4	37	c.403T>G	CCDS8544.1	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.663508	0.00772	.	.	ENSG00000111321	ENST00000539925;ENST00000228918;ENST00000540343;ENST00000536876;ENST00000543190;ENST00000541102	T;T;T;T;T	0.71461	1.08;1.08;1.08;-0.57;-0.57	4.26	-8.52	0.00920	TNFR/CD27/30/40/95 cysteine-rich region (1);	1.278260	0.05851	N	0.621226	T	0.46092	0.1375	L	0.28054	0.825	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.22103	-1.0226	9	.	.	.	0.0011	1.9926	0.03449	0.1987:0.4097:0.2006:0.1909	.	116;116;135	F5GXE7;B7Z1D2;P36941	.;.;TNR3_HUMAN	G	116;135;28;130;28;28	ENSP00000440875:W116G;ENSP00000228918:W135G;ENSP00000437647:W130G;ENSP00000438955:W28G;ENSP00000438605:W28G	.	W	+	1	0	LTBR	6364737	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-5.926000	0.00090	-1.952000	0.01027	-1.840000	0.00586	TGG		0.622	LTBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399422.1			29	65	0	0	0	1	0	29	65				
MLLT3	4300	broad.mit.edu	37	9	20414373	20414373	+	Silent	SNP	G	G	A			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr9:20414373G>A	ENST00000380338.4	-	5	757	c.471C>T	c.(469-471)agC>agT	p.S157S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S154S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	157	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S157S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S157S(5)	endometrium(3)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(469-471)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	14.0	12.0					9																	20414373		1757	3647	5404	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414373G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.471C>T	9.37:g.20414373G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S154S|MLLT3_ENST00000355930.6_5'UTR	p.S157S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	757	-			157			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.471C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	79	0	0	0	1	0	4	79				
F10	2159	broad.mit.edu	37	13	113795319	113795319	+	Missense_Mutation	SNP	C	C	T	rs138587138		TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr13:113795319C>T	ENST00000375559.3	+	5	495	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C	F10_ENST00000409306.1_Missense_Mutation_p.R153C|F10_ENST00000375551.3_Missense_Mutation_p.R153C	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	153	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	CTCCTGCGCCCGCGGGTACAC	0.657																																						ENST00000375559.3																			0				endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18						c.(457-459)Cgc>Tgc		coagulation factor X	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	C	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	93.0	79.0	84.0		457	-5.8	0.0	13	dbSNP_134	84	0,8600		0,0,4300	no	missense	F10	NM_000504.3	180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	153/489	113795319	2,13004	2203	4300	6503	SO:0001583	missense	2159				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity	g.chr13:113795319C>T		CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.457C>T	13.37:g.113795319C>T	ENSP00000364709:p.Arg153Cys					F10_ENST00000375551.3_Missense_Mutation_p.R153C|F10_ENST00000409306.1_Missense_Mutation_p.R153C	p.R153C	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	all cancers(43;0.0805)|Epithelial(84;0.231)		5	495	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	153			EGF-like 2.		Q14340	Missense_Mutation	SNP	ENST00000375559.3	37	c.457C>T	CCDS9530.1	.	.	.	.	.	.	.	.	.	.	C	8.088	0.773803	0.16051	4.54E-4	0.0	ENSG00000126218	ENST00000409306;ENST00000375551;ENST00000375559	D;D;D	0.96459	-4.02;-4.02;-4.02	4.68	-5.85	0.02311	Epidermal growth factor-like (1);EGF-like region, conserved site (1);	1.869560	0.02477	N	0.088109	D	0.93569	0.7947	L	0.60904	1.88	0.09310	N	1	D;D;P	0.60160	0.965;0.987;0.927	B;B;B	0.43783	0.353;0.431;0.103	D	0.87970	0.2736	10	0.66056	D	0.02	.	3.8529	0.08963	0.1801:0.454:0.2562:0.1097	.	153;153;153	B7ZBK1;Q5JVE8;P00742	.;.;FA10_HUMAN	C	153	ENSP00000387092:R153C;ENSP00000364701:R153C;ENSP00000364709:R153C	ENSP00000364701:R153C	R	+	1	0	F10	112843320	0.000000	0.05858	0.006000	0.13384	0.032000	0.12392	-1.359000	0.02602	-0.713000	0.04981	-1.393000	0.01150	CGC		0.657	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3			31	66	0	0	0	1	0	31	66				
GGA1	26088	broad.mit.edu	37	22	38028487	38028487	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr22:38028487A>G	ENST00000343632.4	+	16	2160	c.1774A>G	c.(1774-1776)Atc>Gtc	p.I592V	GGA1_ENST00000337437.4_Missense_Mutation_p.I559V|GGA1_ENST00000406772.1_Missense_Mutation_p.I519V|GGA1_ENST00000381756.5_Missense_Mutation_p.I609V|GGA1_ENST00000325180.8_Missense_Mutation_p.I505V	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	592	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					CCCCTCAGCAATCACCCAGGT	0.637																																						ENST00000406772.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10						c.(1555-1557)Atc>Gtc		golgi-associated, gamma adaptin ear containing, ARF binding protein 1							125.0	113.0	117.0					22																	38028487		2203	4300	6503	SO:0001583	missense	26088				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding	g.chr22:38028487A>G	AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083			17842	protein-coding gene	gene with protein product		606004				10747088, 10747089, 16407204	Standard	NM_013365		Approved		uc003atc.3	Q9UJY5	OTTHUMG00000030985	ENST00000343632.4:c.1774A>G	22.37:g.38028487A>G	ENSP00000341344:p.Ile592Val					GGA1_ENST00000381756.5_Missense_Mutation_p.I609V|GGA1_ENST00000325180.8_Missense_Mutation_p.I505V|GGA1_ENST00000337437.4_Missense_Mutation_p.I559V|GGA1_ENST00000343632.4_Missense_Mutation_p.I592V	p.I519V	NM_001172688.1	NP_001166159.1	Q9UJY5	GGA1_HUMAN			17	2207	+	Melanoma(58;0.0574)		592			GAE.		A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Missense_Mutation	SNP	ENST00000343632.4	37	c.1555A>G	CCDS13951.1	.	.	.	.	.	.	.	.	.	.	A	7.518	0.656092	0.14580	.	.	ENSG00000100083	ENST00000343632;ENST00000381756;ENST00000325180;ENST00000337437;ENST00000406772	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.3	4.24	0.50183	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, gamma-adaptin, appendage (2);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);	0.114666	0.64402	D	0.000014	T	0.48978	0.1530	L	0.31157	0.91	0.80722	D	1	B;P;B	0.46656	0.025;0.882;0.025	B;D;B	0.68765	0.034;0.96;0.034	T	0.29427	-1.0012	10	0.22109	T	0.4	-30.363	12.151	0.54050	0.8566:0.1434:0.0:0.0	.	609;505;592	Q6IC75;Q86YA9;Q9UJY5	.;.;GGA1_HUMAN	V	592;609;505;559;519	ENSP00000341344:I592V;ENSP00000371175:I609V;ENSP00000321288:I505V;ENSP00000338647:I559V;ENSP00000385287:I519V	ENSP00000321288:I505V	I	+	1	0	GGA1	36358433	0.946000	0.32159	0.647000	0.29507	0.217000	0.24651	2.128000	0.42045	0.816000	0.34421	0.459000	0.35465	ATC		0.637	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075873.3	NM_013365		16	162	0	0	0	1	0	16	162				
SIPA1	6494	broad.mit.edu	37	11	65414869	65414869	+	Silent	SNP	C	C	T			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr11:65414869C>T	ENST00000394224.3	+	9	2342	c.2046C>T	c.(2044-2046)ggC>ggT	p.G682G	SIPA1_ENST00000527525.1_Silent_p.G580G|SIPA1_ENST00000394227.3_Silent_p.G580G|MIR4489_ENST00000578869.1_RNA|SIPA1_ENST00000534313.1_Silent_p.G682G	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	682					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						TGAGCCGTGGCTGCGAGACCC	0.756																																						ENST00000394224.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(2044-2046)ggC>ggT		signal-induced proliferation-associated 1							4.0	3.0	3.0					11																	65414869		1633	3035	4668	SO:0001819	synonymous_variant	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65414869C>T	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.2046C>T	11.37:g.65414869C>T						SIPA1_ENST00000527525.1_Silent_p.G580G|SIPA1_ENST00000394227.3_Silent_p.G580G|SIPA1_ENST00000534313.1_Silent_p.G682G	p.G682G	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN			9	2342	+			682					O14518|O60484|O60618|Q2YD83	Silent	SNP	ENST00000394224.3	37	c.2046C>T	CCDS8108.1																																																																																				0.756	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		3	0	0	0	0	1	0	3	0				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs201948955		TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr21:14414855A>G	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		GCCAATGGCCATGCAGAAGTA	0.448																																						ENST00000507941.1																			0																																																			0							g.chr21:14414855A>G	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414855A>G														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.448	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		5	35	0	0	0	1	0	5	35				
GCK	2645	broad.mit.edu	37	7	44198715	44198715	+	Intron	SNP	G	G	A			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr7:44198715G>A	ENST00000403799.3	-	2	515				GCK_ENST00000476008.1_Intron|GCK_ENST00000345378.2_Missense_Mutation_p.A2V|GCK_ENST00000395796.3_5'UTR|GCK_ENST00000437084.1_Intron	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)						calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)	p.A2V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GACATCCATCGCCATCTCTCC	0.592																																						ENST00000345378.2																			1	Substitution - Missense(1)	p.A2V(1)	large_intestine(1)	central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						c.(4-6)gCg>gTg		glucokinase (hexokinase 4)							134.0	121.0	126.0					7																	44198715		2203	4300	6503	SO:0001627	intron_variant	2645				cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	g.chr7:44198715G>A	AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"""maturity onset diabetes of the young 2"""	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.46-5653C>T	7.37:g.44198715G>A						GCK_ENST00000476008.1_Intron|GCK_ENST00000395796.3_5'UTR|GCK_ENST00000403799.3_Intron|GCK_ENST00000437084.1_Intron	p.A2V	NM_033507.1	NP_277042.1	P35557	HXK4_HUMAN			1	166	-			0					A4D2J2|A4D2J3|Q05810	Missense_Mutation	SNP	ENST00000403799.3	37	c.5C>T	CCDS5479.1	.	.	.	.	.	.	.	.	.	.	G	8.831	0.939839	0.18281	.	.	ENSG00000106633	ENST00000345378	D	0.97404	-4.37	3.05	2.17	0.27698	.	2.388090	0.02053	N	0.050199	D	0.92260	0.7545	.	.	.	0.09310	N	0.999999	B	0.21452	0.056	B	0.10450	0.005	D	0.85420	0.1142	9	0.15952	T	0.53	-5.6747	6.1893	0.20516	0.1417:0.0:0.8583:0.0	.	2	P35557-2	.	V	2	ENSP00000223366:A2V	ENSP00000223366:A2V	A	-	2	0	GCK	44165240	0.107000	0.21998	0.010000	0.14722	0.073000	0.16967	1.208000	0.32345	0.843000	0.35070	0.462000	0.41574	GCG		0.592	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2			5	111	0	0	0	1	0	5	111				
C2orf54	79919	broad.mit.edu	37	2	241827877	241827877	+	Silent	SNP	G	G	A			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr2:241827877G>A	ENST00000388934.4	-	4	1241	c.1083C>T	c.(1081-1083)cgC>cgT	p.R361R	C2orf54_ENST00000307486.8_Silent_p.R212R|C2orf54_ENST00000402775.2_Silent_p.R193R	NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	361										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		AGCCCTCCACGCGCTGGTAGA	0.736																																						ENST00000307486.8																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6						c.(634-636)cgC>cgT		chromosome 2 open reading frame 54							7.0	11.0	9.0					2																	241827877		2008	4107	6115	SO:0001819	synonymous_variant	79919							g.chr2:241827877G>A	AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478			26216	protein-coding gene	gene with protein product							Standard	NM_001282921		Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000388934.4:c.1083C>T	2.37:g.241827877G>A						C2orf54_ENST00000388934.4_Silent_p.R361R|C2orf54_ENST00000402775.2_Silent_p.R193R	p.R212R			Q08AI8	CB054_HUMAN		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	4	734	-		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	361					B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Silent	SNP	ENST00000388934.4	37	c.636C>T	CCDS42839.1																																																																																				0.736	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324353.1	NM_024861, NM_001085437		7	26	0	0	0	1	0	7	26				
PLCH1	23007	broad.mit.edu	37	3	155198914	155198914	+	Missense_Mutation	SNP	G	G	A	rs200586305		TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr3:155198914G>A	ENST00000340059.7	-	23	4924	c.4925C>T	c.(4924-4926)aCg>aTg	p.T1642M	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.T1604M|PLCH1_ENST00000414191.1_Missense_Mutation_p.T1604M|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000460012.1_Missense_Mutation_p.T1604M	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1642					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ACCCCCTTTCGTGTTCTTCAG	0.557																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(4810-4812)aCg>aTg		phospholipase C, eta 1		G	MET/THR,,MET/THR	1,4405	2.1+/-5.4	0,1,2202	60.0	64.0	63.0		4925,,4811	-2.5	0.0	3		63	0,8600		0,0,4300	no	missense,utr-3,missense	PLCH1	NM_001130960.1,NM_001130961.1,NM_014996.2	81,,81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,,benign	1642/1694,,1604/1656	155198914	1,13005	2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155198914G>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.4925C>T	3.37:g.155198914G>A	ENSP00000345988:p.Thr1642Met					PLCH1_ENST00000334686.6_Missense_Mutation_p.T1604M|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.T1604M|PLCH1_ENST00000340059.7_Missense_Mutation_p.T1642M|PLCH1_ENST00000494598.1_Intron	p.T1604M			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	5168	-			1642					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.4811C>T	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	G	1.576	-0.532827	0.04112	2.27E-4	0.0	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.20069	2.1;2.1;2.1;2.1	4.86	-2.48	0.06423	.	3.732820	0.00610	N	0.000408	T	0.07234	0.0183	N	0.02011	-0.69	0.09310	N	1	B;B	0.13145	0.007;0.004	B;B	0.09377	0.004;0.002	T	0.17137	-1.0379	10	0.23891	T	0.37	.	2.4575	0.04533	0.5469:0.1593:0.162:0.1318	.	1604;1642	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	M	1604;1642;1604;1604	ENSP00000417502:T1604M;ENSP00000345988:T1642M;ENSP00000335469:T1604M;ENSP00000412977:T1604M	ENSP00000335469:T1604M	T	-	2	0	PLCH1	156681608	.	.	0.000000	0.03702	0.252000	0.25951	.	.	-0.327000	0.08551	-0.732000	0.03574	ACG		0.557	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		12	89	0	0	0	1	0	12	89				
USP15	9958	broad.mit.edu	37	12	62777656	62777656	+	Silent	SNP	A	A	G			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr12:62777656A>G	ENST00000280377.5	+	10	1183	c.1125A>G	c.(1123-1125)ggA>ggG	p.G375G	USP15_ENST00000393654.3_Silent_p.G350G|USP15_ENST00000353364.3_Silent_p.G346G	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	375	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AGTTCTCTGGATATCAGCAGC	0.348																																					Melanoma(181;615 2041 39364 49691 50001)	ENST00000280377.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(1123-1125)ggA>ggG		ubiquitin specific peptidase 15							109.0	104.0	105.0					12																	62777656		2203	4299	6502	SO:0001819	synonymous_variant	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62777656A>G	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.1125A>G	12.37:g.62777656A>G						USP15_ENST00000353364.3_Silent_p.G346G|USP15_ENST00000393654.3_Silent_p.G350G	p.G375G	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	10	1183	+			375					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Silent	SNP	ENST00000280377.5	37	c.1125A>G	CCDS58251.1																																																																																				0.348	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		24	42	0	0	0	1	0	24	42				
CELSR2	1952	broad.mit.edu	37	1	109801499	109801499	+	Silent	SNP	C	C	T			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr1:109801499C>T	ENST00000271332.3	+	2	3817	c.3756C>T	c.(3754-3756)tcC>tcT	p.S1252S		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1252	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TCGACTCCTCCGCGCCCTTCA	0.692																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(3754-3756)tcC>tcT		cadherin, EGF LAG seven-pass G-type receptor 2							45.0	38.0	40.0					1																	109801499		2203	4300	6503	SO:0001819	synonymous_variant	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109801499C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.3756C>T	1.37:g.109801499C>T							p.S1252S	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	2	3817	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1252			EGF-like 1; calcium-binding.		Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	c.3756C>T	CCDS796.1																																																																																				0.692	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		7	29	0	0	0	1	0	7	29				
RUFY3	22902	broad.mit.edu	37	4	71640889	71640889	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr4:71640889G>T	ENST00000226328.4	+	7	1326	c.763G>T	c.(763-765)Ggt>Tgt	p.G255C	RUFY3_ENST00000417478.2_Missense_Mutation_p.G315C|RUFY3_ENST00000502653.1_Missense_Mutation_p.G202C|RUFY3_ENST00000536664.1_Missense_Mutation_p.G239C|RUFY3_ENST00000381006.3_Missense_Mutation_p.G255C	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	255					negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			CCCCAGAGACGGTCAGATTAC	0.358																																						ENST00000226328.4																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16						c.(763-765)Ggt>Tgt		RUN and FYVE domain containing 3							59.0	62.0	61.0					4																	71640889		2203	4300	6503	SO:0001583	missense	22902				negative regulation of axonogenesis	filopodium|growth cone		g.chr4:71640889G>T	AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"""Zinc fingers, FYVE domain containing"""	30285	protein-coding gene	gene with protein product	"""single axon-related 1"""	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000226328.4:c.763G>T	4.37:g.71640889G>T	ENSP00000226328:p.Gly255Cys					RUFY3_ENST00000381006.3_Missense_Mutation_p.G255C|RUFY3_ENST00000502653.1_Missense_Mutation_p.G202C|RUFY3_ENST00000536664.1_Missense_Mutation_p.G239C|RUFY3_ENST00000417478.2_Missense_Mutation_p.G315C	p.G255C	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	Lung(101;0.235)		7	1326	+		all_hematologic(202;0.248)	255					B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Missense_Mutation	SNP	ENST00000226328.4	37	c.763G>T	CCDS3547.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586375	0.86851	.	.	ENSG00000018189	ENST00000417478;ENST00000381006;ENST00000226328;ENST00000536664;ENST00000513597;ENST00000502653	T;T;T;T;T;T	0.23348	2.62;3.02;2.65;2.64;1.91;3.03	5.59	5.59	0.84812	.	0.773311	0.12961	N	0.425004	T	0.51176	0.1659	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.76494	0.996;0.999;0.999;0.998	P;D;D;D	0.65874	0.899;0.939;0.931;0.936	T	0.42327	-0.9458	10	0.59425	D	0.04	-13.3819	19.5491	0.95310	0.0:0.0:1.0:0.0	.	239;255;255;315	B4DKC2;Q7L099-3;Q7L099;Q7L099-2	.;.;RUFY3_HUMAN;.	C	315;255;255;239;191;202	ENSP00000399771:G315C;ENSP00000370394:G255C;ENSP00000226328:G255C;ENSP00000443652:G239C;ENSP00000425574:G191C;ENSP00000425400:G202C	ENSP00000226328:G255C	G	+	1	0	RUFY3	71859753	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	9.245000	0.95431	2.788000	0.95919	0.585000	0.79938	GGT		0.358	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2	NM_014961		15	68	1	0	0.0332995	1	0.0349645	15	68				
CFH	3075	broad.mit.edu	37	1	196658725	196658725	+	Silent	SNP	G	G	A			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr1:196658725G>A	ENST00000359637.2	+	7	1010	c.948G>A	c.(946-948)tcG>tcA	p.S316S	CFH_ENST00000367429.4_Silent_p.S380S|CFH_ENST00000439155.2_Silent_p.S380S			P08603	CFAH_HUMAN	complement factor H	380	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATGGATGGTCGCCAGCAGTAC	0.393																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(1138-1140)tcG>tcA		complement factor H							107.0	105.0	105.0					1																	196658725		2203	4300	6503	SO:0001819	synonymous_variant	3075				complement activation, alternative pathway	extracellular space		g.chr1:196658725G>A	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.948G>A	1.37:g.196658725G>A						CFH_ENST00000359637.2_Silent_p.S316S|CFH_ENST00000439155.2_Silent_p.S380S	p.S380S	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			8	1380	+			380			Sushi 6.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Silent	SNP	ENST00000359637.2	37	c.1140G>A																																																																																					0.393	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186		43	68	0	0	0	1	0	43	68				
PCDHB7	56129	broad.mit.edu	37	5	140553173	140553173	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr5:140553173G>T	ENST00000231137.3	+	1	931	c.757G>T	c.(757-759)Gaa>Taa	p.E253*		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	253	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E253K(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGGTGCCCGAAAATAGCCC	0.517																																						ENST00000231137.3																			1	Substitution - Missense(1)	p.E253K(1)	large_intestine(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(757-759)Gaa>Taa									65.0	70.0	69.0					5																	140553173		2203	4300	6503	SO:0001587	stop_gained	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553173G>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.757G>T	5.37:g.140553173G>T	ENSP00000231137:p.Glu253*						p.E253*	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	931	+			253			Cadherin 3.		A1L3Y8	Nonsense_Mutation	SNP	ENST00000231137.3	37	c.757G>T	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.849173	0.71603	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	.	.	.	4.61	4.61	0.57282	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.4139	0.87494	0.0:0.0:1.0:0.0	.	.	.	.	X	253;36	.	ENSP00000231137:E253X	E	+	1	0	PCDHB7	140533357	1.000000	0.71417	0.034000	0.17996	0.077000	0.17291	9.783000	0.99037	2.248000	0.74166	0.655000	0.94253	GAA		0.517	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		47	70	1	0	1.22102e-19	1	1.39862e-19	47	70				
FAHD2A	51011	broad.mit.edu	37	2	96072721	96072721	+	Missense_Mutation	SNP	G	G	A	rs373739961		TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr2:96072721G>A	ENST00000233379.4	+	3	431	c.278G>A	c.(277-279)cGg>cAg	p.R93Q	FAHD2A_ENST00000447036.1_Missense_Mutation_p.R93Q	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing 2A	93							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						GTCCTACCACGGTCGGAGGTA	0.597																																						ENST00000233379.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						c.(277-279)cGg>cAg		fumarylacetoacetate hydrolase domain containing 2A		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	81.0	65.0	70.0		278	3.3	1.0	2		70	0,8600		0,0,4300	no	missense	FAHD2A	NM_016044.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	93/315	96072721	1,13005	2203	4300	6503	SO:0001583	missense	51011						hydrolase activity|metal ion binding	g.chr2:96072721G>A	AF151863	CCDS2014.1	2q11.2	2008-02-05			ENSG00000115042	ENSG00000115042			24252	protein-coding gene	gene with protein product							Standard	NM_016044		Approved	CGI-105	uc002sur.3	Q96GK7	OTTHUMG00000130397	ENST00000233379.4:c.278G>A	2.37:g.96072721G>A	ENSP00000233379:p.Arg93Gln					FAHD2A_ENST00000447036.1_Missense_Mutation_p.R93Q	p.R93Q	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN			3	431	+			93					Q9Y3B0	Missense_Mutation	SNP	ENST00000233379.4	37	c.278G>A	CCDS2014.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.814323	0.50527	2.27E-4	0.0	ENSG00000115042	ENST00000447036;ENST00000233379;ENST00000418606	T;T	0.30714	1.52;1.52	3.35	3.35	0.38373	Fumarylacetoacetase, C-terminal-related (1);	0.069040	0.64402	D	0.000013	T	0.25419	0.0618	L	0.52206	1.635	0.40083	D	0.976157	B	0.20459	0.045	B	0.17722	0.019	T	0.07121	-1.0789	10	0.12430	T	0.62	.	12.5392	0.56158	0.0:0.0:1.0:0.0	.	93	Q96GK7	FAH2A_HUMAN	Q	93	ENSP00000406424:R93Q;ENSP00000233379:R93Q	ENSP00000233379:R93Q	R	+	2	0	FAHD2A	95436448	1.000000	0.71417	0.986000	0.45419	0.784000	0.44337	5.590000	0.67530	1.856000	0.53863	0.561000	0.74099	CGG		0.597	FAHD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252778.1	NM_016044		16	36	0	0	0	1	0	16	36				
FAM45A	404636	broad.mit.edu	37	10	120883051	120883051	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr10:120883051G>A	ENST00000361432.2	+	6	690	c.664G>A	c.(664-666)Gat>Aat	p.D222N	FAM45A_ENST00000489988.1_3'UTR|FAM45A_ENST00000544016.1_Missense_Mutation_p.D71N|FAM45A_ENST00000535029.1_Silent_p.P184P	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN	family with sequence similarity 45, member A	222										breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		CCTCAACGCCGATGAGCTGGA	0.507																																						ENST00000361432.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14						c.(664-666)Gat>Aat		family with sequence similarity 45, member A							78.0	65.0	69.0					10																	120883051		2203	4300	6503	SO:0001583	missense	404636							g.chr10:120883051G>A	AF168713	CCDS7609.1	10q25	2008-09-04			ENSG00000119979	ENSG00000119979			31793	protein-coding gene	gene with protein product							Standard	NM_207009		Approved			Q8TCE6	OTTHUMG00000019143	ENST00000361432.2:c.664G>A	10.37:g.120883051G>A	ENSP00000354688:p.Asp222Asn					FAM45A_ENST00000489988.1_3'UTR|FAM45A_ENST00000544016.1_Missense_Mutation_p.D71N|FAM45A_ENST00000535029.1_Silent_p.P184P	p.D222N	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN		all cancers(201;0.0293)	6	690	+		Lung NSC(174;0.094)|all_lung(145;0.123)	222					B1AMV6|B4DDC3|D3DRC8|Q9NXW4	Missense_Mutation	SNP	ENST00000361432.2	37	c.664G>A	CCDS7609.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.64|10.64	1.408012|1.408012	0.25378|0.25378	.|.	.|.	ENSG00000119979|ENSG00000119979	ENST00000361432;ENST00000544016|ENST00000546291	.|.	.|.	.|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.523113|.	0.21920|.	N|.	0.067167|.	T|T	0.55986|0.55986	0.1955|0.1955	L|L	0.46157|0.46157	1.445|1.445	0.22552|0.22552	N|N	0.998998|0.998998	P;P;P;P|.	0.47545|.	0.774;0.897;0.733;0.882|.	B;B;B;B|.	0.40329|.	0.255;0.323;0.165;0.326|.	T|T	0.54118|0.54118	-0.8341|-0.8341	9|6	0.42905|0.87932	T|D	0.14|0	.|.	17.3699|17.3699	0.87373|0.87373	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	149;71;214;222|.	B4DNL9;B4DMU4;Q8TCE6-2;Q8TCE6|.	.;.;.;FA45A_HUMAN|.	N|Q	222;71|221	.|.	ENSP00000354688:D222N|ENSP00000442471:R221Q	D|R	+|+	1|2	0|0	FAM45A|FAM45A	120873041|120873041	0.991000|0.991000	0.36638|0.36638	0.055000|0.055000	0.19348|0.19348	0.067000|0.067000	0.16453|0.16453	2.620000|2.620000	0.46410|0.46410	2.547000|2.547000	0.85894|0.85894	0.543000|0.543000	0.68304|0.68304	GAT|CGA		0.507	FAM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050623.1	NM_207009		4	19	0	0	0	1	0	4	19				
RAB33B	83452	broad.mit.edu	37	4	140393995	140393995	+	Silent	SNP	T	T	C			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr4:140393995T>C	ENST00000305626.5	+	2	794	c.405T>C	c.(403-405)caT>caC	p.H135H		NM_031296.1	NP_112586.1	Q9H082	RB33B_HUMAN	RAB33B, member RAS oncogene family	135					autophagy (GO:0006914)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of retrograde vesicle-mediated transport, Golgi to ER (GO:2000156)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_hematologic(180;0.162)					GCAAACAACATTTGCTAGCCA	0.393																																						ENST00000305626.5																			0				large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						c.(403-405)caT>caC		RAB33B, member RAS oncogene family							131.0	125.0	127.0					4																	140393995		2203	4300	6503	SO:0001819	synonymous_variant	83452				protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	g.chr4:140393995T>C	AF350420	CCDS3747.1	4q28	2008-02-05			ENSG00000172007	ENSG00000172007		"""RAB, member RAS oncogene"""	16075	protein-coding gene	gene with protein product		605950					Standard	NM_031296		Approved	DKFZP434G099	uc003ihv.3	Q9H082	OTTHUMG00000133384	ENST00000305626.5:c.405T>C	4.37:g.140393995T>C							p.H135H	NM_031296.1	NP_112586.1	Q9H082	RB33B_HUMAN			2	794	+	all_hematologic(180;0.162)		135					B2R987|Q4W5B0	Silent	SNP	ENST00000305626.5	37	c.405T>C	CCDS3747.1																																																																																				0.393	RAB33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257235.2	NM_031296		53	75	0	0	0	1	0	53	75				
LRP1B	53353	broad.mit.edu	37	2	140990833	140990833	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr2:140990833G>T	ENST00000389484.3	-	91	14693	c.13722C>A	c.(13720-13722)aaC>aaA	p.N4574K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4574					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCCTAAGGAGTTTCGACAGT	0.323										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(13720-13722)aaC>aaA		low density lipoprotein receptor-related protein 1B							100.0	99.0	99.0					2																	140990833		2202	4299	6501	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:140990833G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.13722C>A	2.37:g.140990833G>T	ENSP00000374135:p.Asn4574Lys	TSP Lung(27;0.18)					p.N4574K	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	91	14693	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4574					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.13722C>A	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.435|8.435	0.849511|0.849511	0.17034|0.17034	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	T|.	0.43688|.	0.94|.	5.69|5.69	1.38|1.38	0.22167|0.22167	.|.	0.069032|.	0.56097|.	U|.	0.000030|.	T|T	0.30386|0.30386	0.0763|0.0763	N|N	0.19112|0.19112	0.55|0.55	0.29736|0.29736	N|N	0.837517|0.837517	B|.	0.12013|.	0.005|.	B|.	0.14023|.	0.01|.	T|T	0.28522|0.28522	-1.0041|-1.0041	10|5	0.28530|.	T|.	0.3|.	.|.	11.7752|11.7752	0.51981|0.51981	0.274:0.0:0.726:0.0|0.274:0.0:0.726:0.0	.|.	4574|.	Q9NZR2|.	LRP1B_HUMAN|.	K|N	4574;4512|773	ENSP00000374135:N4574K|.	ENSP00000374135:N4574K|.	N|T	-|-	3|2	2|0	LRP1B|LRP1B	140707303|140707303	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.343000|1.343000	0.33930|0.33930	0.350000|0.350000	0.24002|0.24002	0.585000|0.585000	0.79938|0.79938	AAC|ACT		0.323	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		9	14	1	0	2.17888e-05	1	2.40823e-05	9	14				
APC	324	broad.mit.edu	37	5	112179432	112179432	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr5:112179432G>A	ENST00000457016.1	+	16	8521	c.8141G>A	c.(8140-8142)cGt>cAt	p.R2714H	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.R2714H|APC_ENST00000508376.2_Missense_Mutation_p.R2714H			P25054	APC_HUMAN	adenomatous polyposis coli	2714	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.R2714H(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GTTCCCATGCGTACCGTGGGT	0.423		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		2	Substitution - Missense(1)|Unknown(1)	p.R2714H(1)|p.?(1)	endometrium(1)|skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(8140-8142)cGt>cAt		adenomatous polyposis coli							102.0	101.0	101.0					5																	112179432		2202	4300	6502	SO:0001583	missense	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112179432G>A	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.8141G>A	5.37:g.112179432G>A	ENSP00000413133:p.Arg2714His	TSP Lung(16;0.13)				APC_ENST00000508376.2_Missense_Mutation_p.R2714H|APC_ENST00000257430.4_Missense_Mutation_p.R2714H|CTC-554D6.1_ENST00000520401.1_Intron	p.R2714H			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	8521	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	2714			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.8141G>A	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	7.962	0.747236	0.15710	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	T;T;T	0.80653	-1.4;-1.4;-1.4	6.17	5.24	0.73138	EB-1 binding (1);	0.398468	0.27052	N	0.021175	T	0.65749	0.2721	N	0.24115	0.695	0.23277	N	0.997998	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.50972	-0.8764	9	.	.	.	-0.2176	8.1829	0.31322	0.1251:0.0:0.8749:0.0	.	2716;2714	Q4LE70;P25054	.;APC_HUMAN	H	2714	ENSP00000413133:R2714H;ENSP00000257430:R2714H;ENSP00000427089:R2714H	.	R	+	2	0	APC	112207331	0.519000	0.26242	0.064000	0.19789	0.713000	0.41058	3.096000	0.50243	1.427000	0.47276	0.655000	0.94253	CGT		0.423	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		33	96	0	0	0	1	0	33	96				
B3GAT1	27087	broad.mit.edu	37	11	134253732	134253732	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr11:134253732G>A	ENST00000524765.1	-	3	5007	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C	B3GAT1_ENST00000312527.4_Missense_Mutation_p.R155C|B3GAT1_ENST00000537389.1_Missense_Mutation_p.R168C|B3GAT1_ENST00000392580.1_Missense_Mutation_p.R155C|B3GAT1_ENST00000531510.1_5'Flank			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	155					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GCGTCTCCGCGCAGCTTGTAG	0.736																																						ENST00000524765.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(463-465)Cgc>Tgc		beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)							27.0	26.0	26.0					11																	134253732		2176	4235	6411	SO:0001583	missense	27087				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	g.chr11:134253732G>A	AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"""CD molecules"", ""Beta-1,3-glucuronyltransferases"""	921	protein-coding gene	gene with protein product	"""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1"", ""glucuronosyltransferase P"""	151290	"""CD57 antigen"""	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.463C>T	11.37:g.134253732G>A	ENSP00000433847:p.Arg155Cys					B3GAT1_ENST00000312527.4_Missense_Mutation_p.R155C|B3GAT1_ENST00000392580.1_Missense_Mutation_p.R155C|B3GAT1_ENST00000537389.1_Missense_Mutation_p.R168C	p.R155C			Q9P2W7	B3GA1_HUMAN		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)	3	5007	-	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)	155					Q96FS7	Missense_Mutation	SNP	ENST00000524765.1	37	c.463C>T	CCDS8500.1	.	.	.	.	.	.	.	.	.	.	G	34	5.410077	0.96072	.	.	ENSG00000109956	ENST00000392580;ENST00000312527;ENST00000524765;ENST00000537389	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.39	5.39	0.77823	.	0.108809	0.64402	D	0.000005	T	0.51736	0.1692	L	0.50333	1.59	0.80722	D	1	D;D	0.71674	0.998;0.997	P;P	0.57009	0.729;0.811	T	0.52147	-0.8614	10	0.59425	D	0.04	-19.8928	12.7916	0.57537	0.0:0.0:0.7136:0.2864	.	168;155	F5H0S0;Q9P2W7	.;B3GA1_HUMAN	C	155;155;155;168	ENSP00000376359:R155C;ENSP00000307875:R155C;ENSP00000433847:R155C;ENSP00000445983:R168C	ENSP00000307875:R155C	R	-	1	0	B3GAT1	133758942	1.000000	0.71417	0.993000	0.49108	0.945000	0.59286	3.265000	0.51561	2.541000	0.85698	0.561000	0.74099	CGC		0.736	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393639.1	NM_018644		4	17	0	0	0	1	0	4	17				
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575|rs397516437		TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr17:7577548C>T	ENST00000269305.4	-	7	922	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000420246.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010463|CM900210|CM920674	TP53	M	rs28934575	c.(733-735)Ggc>Agc	Other conserved DNA damage response genes	tumor protein p53		C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	149.0	112.0	125.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	733,733,733,733,337,337,337	4.6	1.0	17	dbSNP_125	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	56,56,56,56,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	245/394,245/394,245/347,245/342,113/262,113/210,113/215	7577548	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577548C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.733G>A	17.37:g.7577548C>T	ENSP00000269305:p.Gly245Ser	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S	p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	865	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.733G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		27	32	0	0	0	1	0	27	32				
POLR3A	11128	broad.mit.edu	37	10	79742556	79742556	+	Missense_Mutation	SNP	C	C	T	rs371116845		TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr10:79742556C>T	ENST00000372371.3	-	27	3586	c.3449G>A	c.(3448-3450)aGa>aAa	p.R1150K		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	1150					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GATGGAATATCTCACTGTCTC	0.507																																						ENST00000372371.3																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(3448-3450)aGa>aAa		polymerase (RNA) III (DNA directed) polypeptide A, 155kDa		C	LYS/ARG	0,4406		0,0,2203	128.0	102.0	111.0		3449	5.0	0.7	10		111	1,8599	1.2+/-3.3	0,1,4299	no	missense	POLR3A	NM_007055.3	26	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1150/1391	79742556	1,13005	2203	4300	6503	SO:0001583	missense	11128				innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	g.chr10:79742556C>T	AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.3449G>A	10.37:g.79742556C>T	ENSP00000361446:p.Arg1150Lys						p.R1150K	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)		27	3586	-	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		1150					Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	37	c.3449G>A	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	C	4.783	0.145565	0.09134	0.0	1.16E-4	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.67171	-0.25	5.92	5.01	0.66863	RNA polymerase Rpb1, domain 5 (1);	0.000000	0.85682	D	0.000000	T	0.50154	0.1599	N	0.13272	0.32	0.54753	D	0.999988	B	0.18741	0.03	B	0.17098	0.017	T	0.41610	-0.9499	9	.	.	.	-24.2459	16.698	0.85341	0.1302:0.8698:0.0:0.0	.	1150	O14802	RPC1_HUMAN	K	1150;1129	ENSP00000361446:R1150K	.	R	-	2	0	POLR3A	79412562	1.000000	0.71417	0.692000	0.30179	0.061000	0.15899	5.542000	0.67218	1.483000	0.48342	0.655000	0.94253	AGA		0.507	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		5	58	0	0	0	1	0	5	58				
OR4A16	81327	broad.mit.edu	37	11	55111605	55111605	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr11:55111605G>A	ENST00000314721.2	+	1	979	c.929G>A	c.(928-930)aGa>aAa	p.R310K		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GTTAGAAAAAGAGTATCTCCC	0.348																																						ENST00000314721.2																			0				NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						c.(928-930)aGa>aAa		olfactory receptor, family 4, subfamily A, member 16							31.0	32.0	32.0					11																	55111605		2201	4293	6494	SO:0001583	missense	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55111605G>A	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.929G>A	11.37:g.55111605G>A	ENSP00000325128:p.Arg310Lys						p.R310K	NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN			1	979	+			310					Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	c.929G>A	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	g	8.185	0.794773	0.16327	.	.	ENSG00000181961	ENST00000314721	T	0.38077	1.16	3.02	-0.365	0.12549	.	.	.	.	.	T	0.14874	0.0359	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.15484	0.013	T	0.27536	-1.0071	9	0.21014	T	0.42	.	3.838	0.08902	0.2306:0.4546:0.3147:0.0	.	310	Q8NH70	O4A16_HUMAN	K	310	ENSP00000325128:R310K	ENSP00000325128:R310K	R	+	2	0	OR4A16	54868181	0.000000	0.05858	0.015000	0.15790	0.034000	0.12701	-0.048000	0.11944	0.074000	0.16767	0.423000	0.28283	AGA		0.348	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		7	36	0	0	0	1	0	7	36				
ARHGEF2	9181	broad.mit.edu	37	1	155931554	155931554	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr1:155931554G>A	ENST00000361247.4	-	11	1465	c.1366C>T	c.(1366-1368)Cca>Tca	p.P456S	ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.P457S|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.P428S|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.P428S|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.P501S|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.P455S	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	456					actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCAGGCACTGGGGTTTGGGCC	0.602																																					Melanoma(178;35 2768 6610 28839)	ENST00000368316.1																			0				breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40						c.(1282-1284)Cca>Tca		Rho/Rac guanine nucleotide exchange factor (GEF) 2							63.0	63.0	63.0					1																	155931554		2203	4300	6503	SO:0001583	missense	9181				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	g.chr1:155931554G>A	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.1366C>T	1.37:g.155931554G>A	ENSP00000354837:p.Pro456Ser					ARHGEF2_ENST00000361247.4_Missense_Mutation_p.P456S|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.P457S|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.P455S|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.P428S	p.P428S			Q92974	ARHG2_HUMAN			15	1752	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		456			DH.		D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	c.1282C>T	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.352360	0.41700	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000313667	T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05	4.95	4.95	0.65309	Pleckstrin homology-type (1);	0.000000	0.46758	D	0.000263	T	0.30166	0.0756	L	0.44542	1.39	0.30675	N	0.752969	B;P;B	0.43231	0.245;0.801;0.359	B;B;B	0.35353	0.017;0.201;0.038	T	0.16482	-1.0401	10	0.14252	T	0.57	-23.6489	11.0118	0.47667	0.0:0.0:0.8142:0.1858	.	500;456;455	D3DVA5;Q92974;Q92974-2	.;ARHG2_HUMAN;.	S	428;456;457;428;455	ENSP00000315325:P428S;ENSP00000354837:P456S;ENSP00000357298:P457S;ENSP00000357299:P428S;ENSP00000314787:P455S	ENSP00000314787:P455S	P	-	1	0	ARHGEF2	154198178	0.549000	0.26481	0.998000	0.56505	0.997000	0.91878	0.714000	0.25808	2.724000	0.93272	0.655000	0.94253	CCA		0.602	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		22	82	0	0	0	1	0	22	82				
OPRL1	4987	broad.mit.edu	37	20	62730104	62730104	+	Silent	SNP	C	C	T	rs367711919		TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr20:62730104C>T	ENST00000349451.3	+	6	1477	c.1065C>T	c.(1063-1065)gaC>gaT	p.D355D	OPRL1_ENST00000355631.4_Silent_p.D355D|OPRL1_ENST00000336866.2_Silent_p.D355D	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	355					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TTGCCAAGGACGTGGCCCTGG	0.647																																						ENST00000349451.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19						c.(1063-1065)gaC>gaT		opiate receptor-like 1			,,	0,4402		0,0,2201	62.0	55.0	58.0		1065,1065,1065	-1.0	0.5	20		58	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	OPRL1	NM_000913.4,NM_001200019.1,NM_182647.2	,,	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	,,	355/371,355/371,355/371	62730104	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	4987				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity	g.chr20:62730104C>T		CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"""GPCR / Class A : Opioid receptors"""	8155	protein-coding gene	gene with protein product	"""LC132 receptor-like"", ""orphanin FQ receptor"", ""kappa3-related opioid receptor"""	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.1065C>T	20.37:g.62730104C>T						OPRL1_ENST00000355631.4_Silent_p.D355D|OPRL1_ENST00000336866.2_Silent_p.D355D	p.D355D	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN			6	1477	+	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)		355					Q8TD34|Q8WYH9|Q9H4K4	Silent	SNP	ENST00000349451.3	37	c.1065C>T	CCDS13556.1																																																																																				0.647	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	NM_182647		27	52	0	0	0	1	0	27	52				
PLEC	5339	broad.mit.edu	37	8	144995284	144995284	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr8:144995284C>T	ENST00000322810.4	-	32	9285	c.9116G>A	c.(9115-9117)cGg>cAg	p.R3039Q	PLEC_ENST00000436759.2_Missense_Mutation_p.R2929Q|PLEC_ENST00000354958.2_Missense_Mutation_p.R2880Q|PLEC_ENST00000356346.3_Missense_Mutation_p.R2888Q|PLEC_ENST00000527096.1_Missense_Mutation_p.R2925Q|PLEC_ENST00000398774.2_Missense_Mutation_p.R2870Q|PLEC_ENST00000345136.3_Missense_Mutation_p.R2902Q|PLEC_ENST00000357649.2_Missense_Mutation_p.R2906Q|PLEC_ENST00000354589.3_Missense_Mutation_p.R2902Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3039	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AAAGACGTCCCGGGCCTCGGA	0.622																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(9115-9117)cGg>cAg		plectin							59.0	66.0	64.0					8																	144995284		2203	4300	6503	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144995284C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.9116G>A	8.37:g.144995284C>T	ENSP00000323856:p.Arg3039Gln					PLEC_ENST00000356346.3_Missense_Mutation_p.R2888Q|PLEC_ENST00000345136.3_Missense_Mutation_p.R2902Q|PLEC_ENST00000527096.1_Missense_Mutation_p.R2925Q|PLEC_ENST00000398774.2_Missense_Mutation_p.R2870Q|PLEC_ENST00000354589.3_Missense_Mutation_p.R2902Q|PLEC_ENST00000436759.2_Missense_Mutation_p.R2929Q|PLEC_ENST00000354958.2_Missense_Mutation_p.R2880Q|PLEC_ENST00000357649.2_Missense_Mutation_p.R2906Q	p.R3039Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	9285	-			3039			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.9116G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.604130	0.28534	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.79247	-1.21;-1.21;-1.25;-1.24;-1.23;-1.21;-1.21;-1.21;-1.21	4.82	4.82	0.62117	.	0.092479	0.42548	U	0.000691	T	0.63686	0.2532	L	0.48362	1.52	0.39414	D	0.966801	P;P;P;P;P;P;P;P	0.51791	0.948;0.948;0.948;0.913;0.948;0.948;0.948;0.948	B;B;B;B;B;B;B;B	0.34418	0.182;0.182;0.182;0.121;0.182;0.182;0.182;0.182	T	0.67806	-0.5575	10	0.42905	T	0.14	.	7.8077	0.29213	0.0:0.818:0.0:0.182	.	2929;2888;2880;3039;2870;2902;2906;2902	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	2902;2906;2902;2870;3039;2880;2888;2929;2925	ENSP00000344848:R2902Q;ENSP00000350277:R2906Q;ENSP00000346602:R2902Q;ENSP00000381756:R2870Q;ENSP00000323856:R3039Q;ENSP00000347044:R2880Q;ENSP00000348702:R2888Q;ENSP00000388180:R2929Q;ENSP00000434583:R2925Q	ENSP00000323856:R3039Q	R	-	2	0	PLEC	145067272	0.989000	0.36119	0.900000	0.35374	0.405000	0.30901	2.621000	0.46418	2.404000	0.81709	0.448000	0.29417	CGG		0.622	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		79	52	0	0	0	1	0	79	52				
NR2E3	10002	broad.mit.edu	37	15	72105883	72105883	+	RNA	SNP	G	G	T	rs375364175		TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr15:72105883G>T	ENST00000398840.2	+	0	1092							Q9Y5X4	NR2E3_HUMAN	nuclear receptor subfamily 2, group E, member 3						eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction (GO:0007602)|positive regulation of rhodopsin gene expression (GO:0045872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(1)	3						ATGGAGACGCGTGTCCTGCAG	0.647																																						ENST00000398840.2																			0				breast(1)|endometrium(1)|lung(1)	3								nuclear receptor subfamily 2, group E, member 3							49.0	53.0	51.0					15																	72105883		1990	4161	6151			10002				phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr15:72105883G>T		CCDS73750.1, CCDS73751.1	15q23	2013-01-16			ENSG00000031544	ENSG00000278570		"""Nuclear hormone receptors"""	7974	protein-coding gene	gene with protein product		604485				10220376	Standard	NM_016346		Approved	PNR, rd7, RP37	uc002ath.1	Q9Y5X4	OTTHUMG00000172841		15.37:g.72105883G>T										Q9Y5X4	NR2E3_HUMAN			0	1092	+								B6ZGU0|Q9UHM4	RNA	SNP	ENST00000398840.2	37			.	.	.	.	.	.	.	.	.	.	G	11.34	1.610350	0.28712	.	.	ENSG00000031544	ENST00000326995;ENST00000398840	.	.	.	5.36	3.01	0.34805	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.082780	0.47455	U	0.000239	T	0.75384	0.3842	M	0.90252	3.1	0.58432	D	0.999997	P	0.41041	0.736	P	0.50049	0.629	D	0.85001	0.0900	8	0.87932	D	0	.	11.5782	0.50877	0.1733:0.0:0.8267:0.0	.	301	Q9Y5X4	NR2E3_HUMAN	L	213;301	.	ENSP00000317199:R213L	R	+	2	0	NR2E3	69892937	1.000000	0.71417	0.023000	0.16930	0.649000	0.38597	5.609000	0.67661	1.162000	0.42619	0.561000	0.74099	CGT		0.647	NR2E3-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014249		3	37	1	0	0.115264	1	0.119043	3	37				
CHI3L2	1117	broad.mit.edu	37	1	111783985	111783985	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr1:111783985C>T	ENST00000445067.2	+	11	1726	c.955C>T	c.(955-957)Ctc>Ttc	p.L319F	CHI3L2_ENST00000529459.1_3'UTR|CHI3L2_ENST00000466741.1_Missense_Mutation_p.L240F|CHI3L2_ENST00000369748.4_Missense_Mutation_p.L319F|CHI3L2_ENST00000369744.2_Missense_Mutation_p.L309F|CHI3L2_ENST00000524472.1_Missense_Mutation_p.L240F			Q15782	CH3L2_HUMAN	chitinase 3-like 2	319					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)	extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		GATCACGCGGCTCCAGGATCA	0.537																																						ENST00000445067.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19						c.(955-957)Ctc>Ttc		chitinase 3-like 2							99.0	87.0	91.0					1																	111783985		2203	4300	6503	SO:0001583	missense	1117				chitin catabolic process	extracellular space	cation binding|chitinase activity	g.chr1:111783985C>T	U49835	CCDS30802.1, CCDS30803.1, CCDS41367.1	1p13.3	2008-02-05			ENSG00000064886	ENSG00000064886			1933	protein-coding gene	gene with protein product		601526				8702629	Standard	NM_001025197		Approved	YKL-39, YKL39	uc001eam.3	Q15782	OTTHUMG00000012174	ENST00000445067.2:c.955C>T	1.37:g.111783985C>T	ENSP00000437082:p.Leu319Phe					CHI3L2_ENST00000466741.1_Missense_Mutation_p.L240F|CHI3L2_ENST00000369744.2_Missense_Mutation_p.L309F|CHI3L2_ENST00000529459.1_3'UTR|CHI3L2_ENST00000524472.1_Missense_Mutation_p.L240F|CHI3L2_ENST00000369748.4_Missense_Mutation_p.L319F	p.L319F			Q15782	CH3L2_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)	11	1726	+		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)	319					A6NNY3|B4DPR7|Q15749|Q15783|Q5VUV7|Q96F97	Missense_Mutation	SNP	ENST00000445067.2	37	c.955C>T	CCDS30802.1	.	.	.	.	.	.	.	.	.	.	C	6.324	0.427800	0.11987	.	.	ENSG00000064886	ENST00000445067;ENST00000369744;ENST00000369748;ENST00000466741;ENST00000524472;ENST00000497220;ENST00000472825	T;T;T;T;T;T;T	0.14391	3.43;3.43;3.43;3.43;3.43;3.52;2.51	3.59	-2.64	0.06114	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.289830	0.18617	U	0.136000	T	0.02610	0.0079	L	0.46819	1.47	0.09310	N	1	B;B	0.23990	0.095;0.095	B;B	0.28784	0.094;0.094	T	0.47182	-0.9137	10	0.09338	T	0.73	-2.2846	6.6071	0.22731	0.6286:0.2676:0.0:0.1039	.	309;319	A6NNY3;Q15782	.;CH3L2_HUMAN	F	319;309;319;240;240;112;15	ENSP00000437082:L319F;ENSP00000358759:L309F;ENSP00000358763:L319F;ENSP00000437086:L240F;ENSP00000432049:L240F;ENSP00000435250:L112F;ENSP00000435935:L15F	ENSP00000358759:L309F	L	+	1	0	CHI3L2	111585508	0.324000	0.24652	0.001000	0.08648	0.412000	0.31113	1.126000	0.31344	-0.454000	0.07066	0.655000	0.94253	CTC		0.537	CHI3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033669.4	NM_004000		34	69	0	0	0	1	0	34	69				
MRPL23	6150	broad.mit.edu	37	11	1972238	1972238	+	Missense_Mutation	SNP	C	C	T	rs377509219		TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr11:1972238C>T	ENST00000397298.3	+	2	212	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	MRPL23_ENST00000397297.3_Missense_Mutation_p.R43W|MRPL23_ENST00000381514.3_Missense_Mutation_p.R43W|MRPL23_ENST00000486931.1_3'UTR|MRPL23_ENST00000381519.1_Missense_Mutation_p.R43W|MRPL23_ENST00000397294.3_Missense_Mutation_p.R43W	NM_021134.3	NP_066957.3	Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23	43					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		CGTGCAGTTCCGGATCCCCAT	0.657																																						ENST00000381514.3																			0				large_intestine(2)|lung(1)|ovary(1)	4						c.(127-129)Cgg>Tgg		mitochondrial ribosomal protein L23		C	TRP/ARG	0,4396		0,0,2198	34.0	27.0	30.0		127	2.5	1.0	11		30	1,8591		0,1,4295	no	missense	MRPL23	NM_021134.3	101	0,1,6493	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	43/154	1972238	1,12987	2198	4296	6494	SO:0001583	missense	6150				translation	mitochondrial large ribosomal subunit	nucleotide binding|RNA binding|structural constituent of ribosome	g.chr11:1972238C>T	AB051340	CCDS31336.1	11p15.5	2012-09-13			ENSG00000214026	ENSG00000214026		"""Mitochondrial ribosomal proteins / large subunits"""	10322	protein-coding gene	gene with protein product		600789		RPL23L		8541832	Standard	NM_021134		Approved	L23MRP	uc001lux.3	Q16540	OTTHUMG00000012476	ENST00000397298.3:c.127C>T	11.37:g.1972238C>T	ENSP00000380466:p.Arg43Trp					MRPL23_ENST00000381519.1_Missense_Mutation_p.R43W|MRPL23_ENST00000397297.3_Missense_Mutation_p.R43W|MRPL23_ENST00000397298.3_Missense_Mutation_p.R43W|MRPL23_ENST00000397294.3_Missense_Mutation_p.R43W|MRPL23_ENST00000486931.1_3'UTR	p.R43W			Q16540	RM23_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)	2	149	+		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	43					A8MT29|Q96Q71	Missense_Mutation	SNP	ENST00000397298.3	37	c.127C>T	CCDS31336.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.286267	0.80803	0.0	1.16E-4	ENSG00000214026	ENST00000397298;ENST00000381519;ENST00000397297;ENST00000381514;ENST00000397294	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	4.46	2.55	0.30701	Ribosomal protein L23/L15e (1);Nucleotide-binding, alpha-beta plait (1);	0.070104	0.64402	U	0.000016	T	0.58892	0.2154	M	0.75447	2.3	0.53688	D	0.999976	D	0.89917	1.0	D	0.68621	0.959	T	0.60352	-0.7280	10	0.51188	T	0.08	.	10.195	0.43049	0.0:0.8351:0.0:0.1649	.	43	Q16540	RM23_HUMAN	W	43	ENSP00000380466:R43W;ENSP00000370930:R43W;ENSP00000380465:R43W;ENSP00000370925:R43W;ENSP00000380462:R43W	ENSP00000370925:R43W	R	+	1	2	MRPL23	1928814	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.466000	0.53071	1.010000	0.39314	0.491000	0.48974	CGG		0.657	MRPL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034765.2	NM_021134		6	11	0	0	0	1	0	6	11				
TNS1	7145	broad.mit.edu	37	2	218683397	218683397	+	Missense_Mutation	SNP	G	G	A	rs151035362		TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr2:218683397G>A	ENST00000171887.4	-	24	3798	c.3346C>T	c.(3346-3348)Cgc>Tgc	p.R1116C	TNS1_ENST00000419504.1_Missense_Mutation_p.R1103C|TNS1_ENST00000430930.1_Missense_Mutation_p.R1095C	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1116	Ser-rich.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CTGCCTGAGCGGAAGCCAGAC	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		17099	0.0		0.0	False		,,,				2504	0.001					ENST00000171887.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(3346-3348)Cgc>Tgc		tensin 1		G	CYS/ARG	0,4406		0,0,2203	38.0	43.0	41.0		3346	3.9	1.0	2	dbSNP_134	41	3,8597	3.0+/-9.4	0,3,4297	yes	missense	TNS1	NM_022648.4	180	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	1116/1736	218683397	3,13003	2203	4300	6503	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218683397G>A	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.3346C>T	2.37:g.218683397G>A	ENSP00000171887:p.Arg1116Cys					TNS1_ENST00000430930.1_Missense_Mutation_p.R1095C|TNS1_ENST00000419504.1_Missense_Mutation_p.R1103C	p.R1116C	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	24	3798	-		Renal(207;0.0483)|Lung NSC(271;0.213)	1116			Ser-rich.		Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.3346C>T	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.128493	0.37533	0.0	3.49E-4	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	D;T;D;D	0.91945	-2.94;2.07;-2.94;-2.94	4.74	3.87	0.44632	.	0.758651	0.12681	N	0.448019	D	0.91012	0.7173	L	0.34521	1.04	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.996	P;P;P	0.56343	0.796;0.72;0.551	D	0.88520	0.3095	10	0.62326	D	0.03	.	8.1008	0.30857	0.0798:0.0:0.7636:0.1566	.	1116;1095;1103	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	C	1116;254;1103;1095	ENSP00000171887:R1116C;ENSP00000394171:R254C;ENSP00000408724:R1103C;ENSP00000406016:R1095C	ENSP00000171887:R1116C	R	-	1	0	TNS1	218391642	1.000000	0.71417	0.997000	0.53966	0.169000	0.22640	4.040000	0.57333	1.237000	0.43756	-0.136000	0.14681	CGC		0.637	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		42	58	0	0	0	1	0	42	58				
NKD2	85409	broad.mit.edu	37	5	1038447	1038449	+	In_Frame_Del	DEL	CAC	CAC	-	rs3840989		TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr5:1038447_1038449delCAC	ENST00000296849.5	+	10	1544_1546	c.1315_1317delCAC	c.(1315-1317)cacdel	p.H447del	NKD2_ENST00000274150.4_3'UTR|NKD2_ENST00000382730.2_In_Frame_Del_p.P86del	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	447	His-rich.				exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410)	calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			ccaccacgagcaccaccaccacc	0.69																																						ENST00000296849.5																			0				breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14						c.(1315-1317)del		naked cuticle homolog 2 (Drosophila)																																				SO:0001651	inframe_deletion	85409				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding	g.chr5:1038447_1038449delCAC	AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506		"""EF-hand domain containing"""	17046	protein-coding gene	gene with protein product	"""naked cuticle-2"", ""Dvl-binding protein NKD2"""	607852				11356022, 11604995	Standard	NM_033120		Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000296849.5:c.1315_1317delCAC	5.37:g.1038456_1038458delCAC	ENSP00000296849:p.His447del					NKD2_ENST00000382730.2_In_Frame_Del_p.AP78del|NKD2_ENST00000274150.4_3'UTR	p.H447del	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)		10	1544_1546	+	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		447			His-rich.		Q96EK8|Q9BSN0	In_Frame_Del	DEL	ENST00000296849.5	37	c.1315_1317delCAC	CCDS3859.1																																																																																				0.690	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206720.2	NM_033120		2	4						2	4	---	---	---	---
TMPRSS4-AS1	100526771	broad.mit.edu	37	11	117907821	117907821	+	RNA	DEL	C	C	-	rs150598905	byFrequency	TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr11:117907821delC	ENST00000606951.1	-	0	195				TMPRSS4-AS1_ENST00000527329.1_RNA|TMPRSS4-AS1_ENST00000527695.1_RNA	NR_038318.1				TMPRSS4 antisense RNA 1																		gtctctcagtcccccctctca	0.532													CCCCCC|CCCCCC|CCCCC|deletion	809	0.161542	0.0779	0.2421	5008	,	,		19950	0.0625		0.3171	False		,,,				2504	0.1595					ENST00000606951.1																			0																																																			0							g.chr11:117907821delC			11q23.3	2012-10-12	2012-08-15		ENSG00000255274	ENSG00000255274		"""Long non-coding RNAs"""	44179	non-coding RNA	RNA, long non-coding			"""TMPRSS4 antisense RNA 1 (non-protein coding)"""				Standard	NR_038318		Approved		uc001pry.1		OTTHUMG00000166993		11.37:g.117907821delC						TMPRSS4-AS1_ENST00000527695.1_RNA|TMPRSS4-AS1_ENST00000527329.1_RNA		NR_038318.1						0	195	-									RNA	DEL	ENST00000606951.1	37																																																																																						0.532	TMPRSS4-AS1-003	KNOWN	basic	antisense	antisense	OTTHUMT00000470982.1	NR_038318		5	4						5	4	---	---	---	---
CCDC64	92558	broad.mit.edu	37	12	120427782	120427784	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr12:120427782_120427784delCCG	ENST00000397558.2	+	1	110_112	c.110_112delCCG	c.(109-114)cccgcc>ccc	p.A42del		NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	42					Golgi to secretory granule transport (GO:0055107)|neuron projection development (GO:0031175)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	dynactin binding (GO:0034452)|Rab GTPase binding (GO:0017137)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTCCGGAGTCCCGCCGCCGCCGC	0.759																																						ENST00000397558.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(109-114)ccc>c		coiled-coil domain containing 64				5,1289		2,1,644						-1.2	0.0			2	22,3806		6,10,1898	no	coding	CCDC64	NM_207311.2		8,11,2542	A1A1,A1R,RR		0.5747,0.3864,0.5271				27,5095				SO:0001651	inframe_deletion	92558				Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding	g.chr12:120427782_120427784delCCG	U88834, AK129960	CCDS41845.1	12q24.23	2006-01-24				ENSG00000135127			28095	protein-coding gene	gene with protein product							Standard	NM_207311		Approved	FLJ26450	uc001txl.1	Q6ZP65	OTTHUMG00000169311	ENST00000397558.2:c.110_112delCCG	12.37:g.120427791_120427793delCCG	ENSP00000380690:p.Ala42del						p.PA37del	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN			1	110_112	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		37					A8MUC8|B4DWL0|B5MDJ0|O95000	In_Frame_Del	DEL	ENST00000397558.2	37	c.110_112delCCG	CCDS41845.1																																																																																				0.759	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403390.2	NM_207311		3	4						3	4	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102299886	102299887	+	RNA	INS	-	-	G	rs199996275	byFrequency	TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr15:102299886_102299887insG	ENST00000561463.1	+	0	7932_7933									DNM1 pseudogene 47																		AACCTGTACTCGCGTCGGAACC	0.589													|||unknown(NO_COVERAGE)	758	0.151358	0.2511	0.1167	5008	,	,		74102	0.0595		0.163	False		,,,				2504	0.1237					ENST00000561463.1																			0																																																			0							g.chr15:102299886_102299887insG	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102299887_102299887dupG														0	7932_7933	+									RNA	INS	ENST00000561463.1	37																																																																																						0.589	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		5	4						5	4	---	---	---	---
SLC8A2	6543	broad.mit.edu	37	19	47935681	47935683	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr19:47935681_47935683delTCC	ENST00000236877.6	-	9	2525_2527	c.2130_2132delGGA	c.(2128-2133)gaggac>gac	p.E710del	SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000542837.1_In_Frame_Del_p.E466del|SLC8A2_ENST00000539381.1_In_Frame_Del_p.E173del	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	710					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCGGGACCCGTCCTCCTCCTCCT	0.616																																						ENST00000236877.6																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31						c.(2128-2133)gac>ga		solute carrier family 8 (sodium/calcium exchanger), member 2																																				SO:0001651	inframe_deletion	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47935681_47935683delTCC	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.2130_2132delGGA	19.37:g.47935690_47935692delTCC	ENSP00000236877:p.Glu710del					SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000542837.1_In_Frame_Del_p.ED466del|SLC8A2_ENST00000539381.1_In_Frame_Del_p.ED173del	p.ED710del	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	9	2525_2527	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	710					B4DYQ9	In_Frame_Del	DEL	ENST00000236877.6	37	c.2130_2132delGGA	CCDS33065.1																																																																																				0.616	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			7	142						7	142	---	---	---	---
DGKK	139189	broad.mit.edu	37	X	50113412	50113412	+	RNA	DEL	G	G	-			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chrX:50113412delG	ENST00000376025.2	-	0	3795							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CTCTGCCTGTGGGGGAGACTT	0.488																																						ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa							98.0	98.0	98.0					X																	50113412		1931	4130	6061			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50113412delG	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50113412delG										Q5KSL6	DGKK_HUMAN			0	3795	-	Ovarian(276;0.236)							B2RP91	RNA	DEL	ENST00000376025.2	37																																																																																						0.488	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		2	4						2	4	---	---	---	---
YIPF6	286451	broad.mit.edu	37	X	67718941	67718941	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chrX:67718941delG	ENST00000462683.1	+	1	777	c.33delG	c.(31-33)ccgfs	p.P11fs	YIPF6_ENST00000470730.1_3'UTR|YIPF6_ENST00000374622.2_Frame_Shift_Del_p.P11fs	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6	11					intestinal epithelial cell development (GO:0060576)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						CAGGAGACCCGGGGACAGCAT	0.667																																						ENST00000462683.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						c.(31-33)ccfs		Yip1 domain family, member 6							31.0	30.0	31.0					X																	67718941		2186	4282	6468	SO:0001589	frameshift_variant	286451					endoplasmic reticulum|integral to membrane		g.chrX:67718941delG	BC012469	CCDS14389.1, CCDS56604.1	Xq13.1	2008-02-05			ENSG00000181704	ENSG00000181704		"""Yip1 domain family"""	28304	protein-coding gene	gene with protein product						12477932	Standard	NM_173834		Approved	MGC21416, FinGER6	uc004dwz.3	Q96EC8	OTTHUMG00000021745	ENST00000462683.1:c.33delG	X.37:g.67718941delG	ENSP00000417573:p.Pro11fs					YIPF6_ENST00000374622.2_Frame_Shift_Del_p.P11fs|YIPF6_ENST00000470730.1_3'UTR	p.P11fs	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN			1	777	+			11					B4E1U7|G5E997|Q5JP08	Frame_Shift_Del	DEL	ENST00000462683.1	37	c.33delG	CCDS14389.1																																																																																				0.667	YIPF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057016.1	NM_173834		2	4						2	4	---	---	---	---
