#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
TNFRSF8	943	broad.mit.edu	37	1	12172043	12172043	+	Silent	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:12172043C>T	ENST00000263932.2	+	7	987	c.765C>T	c.(763-765)cgC>cgT	p.R255R	TNFRSF8_ENST00000417814.2_Silent_p.R144R	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	255					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	AGGCCGGCCGCTGCACGGCCT	0.587																																						uc001atq.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27						c.(763-765)cgC>cgT		Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA.							46.0	44.0	45.0					1																	12172043		2203	4300	6503	SO:0001819	synonymous_variant	943				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		g.chr1:12172043C>T	M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.765C>T	1.37:g.12172043C>T						TNFRSF8_uc010obc.2_Silent_p.R144R	p.R255R	NM_001243	NP_001234	P28908	TNR8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	6	987	+	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	255					B1AN79|B9EGD9|D3YTD8|Q6P4D9	Silent	SNP	ENST00000263932.2	37	c.765C>T	CCDS144.1																																																																																				0.587	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1		
Unknown	0	broad.mit.edu	37	1	13183578	13183578	+	IGR	SNP	G	G	A	rs115194400	byFrequency	TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:13183578G>A								RP13-221M14.3 (19110 upstream) : PRAMEF26 (32777 downstream)																							GCTGCGGATCGTTTCACACCT	0.502																																						uc010obg.2																			0											c.(295-297)Cga>Tga		Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.							97.0	75.0	82.0					1																	13183578		692	1591	2283	SO:0001628	intergenic_variant	440563					ribonucleoprotein complex	nucleic acid binding|nucleotide binding	g.chr1:13183578G>A																													1.37:g.13183578G>A							p.R99*	NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN			1	538	-			99						Nonsense_Mutation	SNP		37	c.295C>T																																																																																				0	0.502								
EPHA10	284656	broad.mit.edu	37	1	38227194	38227194	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:38227194C>T	ENST00000373048.4	-	3	732	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	EPHA10_ENST00000427468.2_Missense_Mutation_p.E245K|EPHA10_ENST00000319637.6_Missense_Mutation_p.E245K	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	245					ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGCTCCCCTTCCGAGTGCGCC	0.736																																						uc009vvi.3																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(733-735)Gaa>Aaa		Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.							17.0	19.0	19.0					1																	38227194		2189	4260	6449	SO:0001583	missense	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38227194C>T	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.733G>A	1.37:g.38227194C>T	ENSP00000362139:p.Glu245Lys					EPHA10_uc001cbw.4_Missense_Mutation_p.E245K	p.E245K	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN			2	819	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	245					A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	c.733G>A	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.237654	0.58886	.	.	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	T;T;T	0.76448	-1.02;-1.02;4.41	4.4	4.4	0.53042	.	0.000000	0.42964	D	0.000623	T	0.70710	0.3255	L	0.52126	1.63	0.80722	D	1	P;P	0.45126	0.851;0.516	B;B	0.38755	0.253;0.281	T	0.72693	-0.4216	10	0.37606	T	0.19	.	13.9287	0.63981	0.0:0.8468:0.1531:0.0	.	245;245	Q5JZY3;Q5JZY3-2	EPHAA_HUMAN;.	K	245	ENSP00000397746:E245K;ENSP00000362139:E245K;ENSP00000316395:E245K	ENSP00000316395:E245K	E	-	1	0	EPHA10	37999781	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	3.649000	0.54417	2.411000	0.81874	0.551000	0.68910	GAA		0.736	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641	
MACF1	23499	broad.mit.edu	37	1	39924911	39924911	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:39924911G>A	ENST00000372915.3	+	90	21134	c.21047G>A	c.(21046-21048)cGg>cAg	p.R7016Q	MACF1_ENST00000361689.2_Missense_Mutation_p.R5058Q|MACF1_ENST00000567887.1_Missense_Mutation_p.R7154Q|MACF1_ENST00000539005.1_Missense_Mutation_p.R4928Q|MACF1_ENST00000564288.1_Missense_Mutation_p.R7117Q|MACF1_ENST00000289893.4_Missense_Mutation_p.R5560Q|MACF1_ENST00000317713.7_Missense_Mutation_p.R5058Q|MACF1_ENST00000545844.1_Missense_Mutation_p.R5058Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7016					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCCTTGGATCGGCTGGAGGAG	0.512																																						uc021olw.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(16678-16680)cGg>cAg		Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.							59.0	53.0	55.0					1																	39924911		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39924911G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.21047G>A	1.37:g.39924911G>A	ENSP00000362006:p.Arg7016Gln					MACF1_uc021ols.1_Missense_Mutation_p.R5055Q|MACF1_uc021olt.1_Missense_Mutation_p.R5058Q|MACF1_uc001cde.2_5'Flank	p.R5560Q	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		55	16679	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	7016					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.16679G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.2|24.2	4.507542|4.507542	0.85282|0.85282	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000360115|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.63913	.|-0.04;0.02;-0.04;-0.07;0.13;1.12	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	.|0.000000	.|0.56097	.|D	.|0.000038	T|T	0.78534|0.78534	0.4298|0.4298	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.85130	.|0.997;0.973	T|T	0.75110|0.75110	-0.3433|-0.3433	5|9	.|.	.|.	.|.	.|.	20.4135|20.4135	0.99023|0.99023	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|7016;5058	.|Q9UPN3;F8W8Q1	.|MACF1_HUMAN;.	S|Q	160|5058;7016;5058;5058;4928;5560	.|ENSP00000439537:R5058Q;ENSP00000362006:R7016Q;ENSP00000354573:R5058Q;ENSP00000313438:R5058Q;ENSP00000444364:R4928Q;ENSP00000289893:R5560Q	.|.	G|R	+|+	1|2	0|0	MACF1|MACF1	39697498|39697498	1.000000|1.000000	0.71417|0.71417	0.935000|0.935000	0.37517|0.37517	0.113000|0.113000	0.19764|0.19764	9.744000|9.744000	0.98853|0.98853	2.835000|2.835000	0.97688|0.97688	0.591000|0.591000	0.81541|0.81541	GGC|CGG		0.512	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
SZT2	23334	broad.mit.edu	37	1	43912755	43912755	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:43912755G>A	ENST00000562955.1	+	65	9031	c.9031G>A	c.(9031-9033)Ggc>Agc	p.G3011S	SZT2_ENST00000372442.1_Missense_Mutation_p.G2169S|SZT2-AS1_ENST00000396885.2_RNA	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	3068					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GCTGCGGCACGGCTACCACCT	0.607																																						uc001cjk.2																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(6505-6507)Ggc>Agc		Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.							131.0	91.0	105.0					1																	43912755		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43912755G>A	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.9031G>A	1.37:g.43912755G>A	ENSP00000457168:p.Gly3011Ser					SZT2_uc001cjl.2_Missense_Mutation_p.G157S	p.G2169S	NM_015284	NP_056099	Q5T011	SZT2_HUMAN			64	9115	+			3068					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.6505G>A	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	G	22.4	4.287352	0.80803	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.73860	0.3641	L	0.40543	1.245	0.42205	D	0.991786	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.73672	-0.3909	9	0.49607	T	0.09	.	19.6025	0.95569	0.0:0.0:1.0:0.0	.	3068;3011	Q5T011;Q5T011-5	SZT2_HUMAN;.	S	2169	.	ENSP00000361519:G2169S	G	+	1	0	SZT2	43685342	1.000000	0.71417	0.995000	0.50966	0.909000	0.53808	9.613000	0.98350	2.708000	0.92522	0.655000	0.94253	GGC		0.607	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284	
JUN	3725	broad.mit.edu	37	1	59248392	59248392	+	Silent	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:59248392G>A	ENST00000371222.2	-	1	1393	c.351C>T	c.(349-351)gcC>gcT	p.A117A	RP4-794H19.2_ENST00000419531.2_lincRNA	NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	117					aging (GO:0007568)|angiogenesis (GO:0001525)|axon regeneration (GO:0031103)|cellular response to calcium ion (GO:0071277)|cellular response to potassium ion starvation (GO:0051365)|circadian rhythm (GO:0007623)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leading edge cell differentiation (GO:0035026)|learning (GO:0007612)|liver development (GO:0001889)|membrane depolarization (GO:0051899)|microglial cell activation (GO:0001774)|monocyte differentiation (GO:0030224)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA binding (GO:0043392)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990441)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|SMAD protein import into nucleus (GO:0007184)|SMAD protein signal transduction (GO:0060395)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nuclear chromosome (GO:0000228)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|R-SMAD binding (GO:0070412)|Rho GTPase activator activity (GO:0005100)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Pseudoephedrine(DB00852)|Vinblastine(DB00570)	GTTCGGCCAGGGCGCGCACGA	0.697			A		sarcoma																																	uc001cze.3				Dom	yes		1	1p32-p31	3725	A	jun oncogene			M			sarcoma		0				breast(2)|kidney(2)|lung(5)|skin(1)	10						c.(349-351)gcC>gcT		Homo sapiens jun proto-oncogene (JUN), mRNA.	Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)						42.0	45.0	44.0					1																	59248392		2196	4286	6482	SO:0001819	synonymous_variant	3725				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr1:59248392G>A	AY217548	CCDS610.1	1p32-p31	2013-01-10	2010-08-27		ENSG00000177606	ENSG00000177606		"""basic leucine zipper proteins"""	6204	protein-coding gene	gene with protein product		165160	"""v-jun avian sarcoma virus 17 oncogene homolog"", ""v-jun sarcoma virus 17 oncogene homolog (avian)"", ""jun oncogene"""			3194415	Standard	NM_002228		Approved	c-Jun, AP-1	uc001cze.3	P05412	OTTHUMG00000008376	ENST00000371222.2:c.351C>T	1.37:g.59248392G>A						LOC100131060_uc001czf.2_5'Flank|LOC100131060_uc010oop.1_5'Flank	p.A117A	NM_002228	NP_002219	P05412	JUN_HUMAN			0	1394	-	all_cancers(7;8.55e-07)		117					Q6FHM7|Q96G93	Silent	SNP	ENST00000371222.2	37	c.351C>T	CCDS610.1																																																																																				0.697	JUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023042.1	NM_002228	
CTSS	1520	broad.mit.edu	37	1	150730364	150730364	+	Silent	SNP	G	G	A	rs139535421		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:150730364G>A	ENST00000368985.3	-	3	479	c.219C>T	c.(217-219)taC>taT	p.Y73Y	CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Silent_p.Y73Y	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	73					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|basement membrane disassembly (GO:0034769)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of inflammatory response (GO:0050729)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			TGCCCAGATCGTATGAGTGCA	0.428																																						uc001evn.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(217-219)taC>taT		Homo sapiens cathepsin S (CTSS), transcript variant 1, mRNA.		G	,	1,4405	2.1+/-5.4	0,1,2202	125.0	108.0	114.0		219,219	-5.1	0.0	1	dbSNP_134	114	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CTSS	NM_001199739.1,NM_004079.4	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	73/282,73/332	150730364	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1520				immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity	g.chr1:150730364G>A	M90696	CCDS968.1, CCDS55634.1	1q21	2008-02-05			ENSG00000163131	ENSG00000163131	3.4.22.27	"""Cathepsins"""	2545	protein-coding gene	gene with protein product		116845				1373132	Standard	NM_001199739		Approved		uc001evn.3	P25774	OTTHUMG00000035010	ENST00000368985.3:c.219C>T	1.37:g.150730364G>A						CTSS_uc010pcj.2_Silent_p.Y73Y	p.Y73Y	NM_004079	NP_004070	P25774	CATS_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)		2	480	-	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		73					B4DWC9|D3DV05|Q5T5I0|Q6FHS5|Q9BUG3	Silent	SNP	ENST00000368985.3	37	c.219C>T	CCDS968.1																																																																																				0.428	CTSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084737.1	NM_004079	
FLG	2312	broad.mit.edu	37	1	152285059	152285059	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:152285059G>A	ENST00000368799.1	-	3	2338	c.2303C>T	c.(2302-2304)gCt>gTt	p.A768V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	768	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGTGACCAGCCTGTCCATG	0.562									Ichthyosis																													uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(2302-2304)gCt>gTt		Homo sapiens filaggrin (FLG), mRNA.							361.0	339.0	347.0					1																	152285059		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152285059G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2303C>T	1.37:g.152285059G>A	ENSP00000357789:p.Ala768Val					AK056431_uc001ezv.3_5'Flank	p.A768V	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	2339	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		768			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.2303C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	8.938	0.965168	0.18583	.	.	ENSG00000143631	ENST00000368799	T	0.01725	4.67	2.81	2.81	0.32909	.	.	.	.	.	T	0.00936	0.0031	M	0.78223	2.4	0.09310	N	1	P	0.41232	0.743	B	0.28991	0.097	T	0.45833	-0.9234	9	0.36615	T	0.2	.	8.9131	0.35565	0.0:0.0:1.0:0.0	.	768	P20930	FILA_HUMAN	V	768	ENSP00000357789:A768V	ENSP00000357789:A768V	A	-	2	0	FLG	150551683	0.010000	0.17322	0.002000	0.10522	0.012000	0.07955	1.677000	0.37576	1.418000	0.47098	0.479000	0.44913	GCT		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
NUF2	83540	broad.mit.edu	37	1	163315530	163315530	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:163315530G>T	ENST00000271452.3	+	11	1149	c.870G>T	c.(868-870)caG>caT	p.Q290H	NUF2_ENST00000367900.3_Missense_Mutation_p.Q290H|NUF2_ENST00000524800.1_Intron	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	290	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					CTTCATGTCAGTTGGAAGTGC	0.358																																						uc001gcq.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(868-870)caG>caT		Homo sapiens NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae) (NUF2), transcript variant 1, mRNA.							102.0	101.0	102.0					1																	163315530		2203	4300	6503	SO:0001583	missense	83540				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	g.chr1:163315530G>T	BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"""cancer/testis antigen 106"""	611772	"""cell division cycle associated 1"", ""NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.870G>T	1.37:g.163315530G>T	ENSP00000271452:p.Gln290His					NUF2_uc001gcr.1_Missense_Mutation_p.Q290H	p.Q290H	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN			10	1170	+	all_hematologic(923;0.101)		290			Interaction with the N-terminus of NDC80.		Q8WU69|Q96HJ4|Q96Q78	Missense_Mutation	SNP	ENST00000271452.3	37	c.870G>T	CCDS1245.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.429770	0.43122	.	.	ENSG00000143228	ENST00000367900;ENST00000271452	T;T	0.33865	1.39;1.39	4.88	0.885	0.19188	.	0.051542	0.85682	D	0.000000	T	0.35828	0.0945	L	0.59436	1.845	0.40113	D	0.976513	D	0.89917	1.0	D	0.85130	0.997	T	0.22208	-1.0223	9	0.52906	T	0.07	-18.352	7.2262	0.26016	0.3739:0.0:0.6261:0.0	.	290	Q9BZD4	NUF2_HUMAN	H	290	ENSP00000356875:Q290H;ENSP00000271452:Q290H	ENSP00000271452:Q290H	Q	+	3	2	NUF2	161582154	0.473000	0.25878	0.425000	0.26659	0.727000	0.41649	0.627000	0.24506	0.270000	0.21984	-0.229000	0.12294	CAG		0.358	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1	NM_145697	
HMCN1	83872	broad.mit.edu	37	1	186092310	186092310	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:186092310G>A	ENST00000271588.4	+	81	12686	c.12457G>A	c.(12457-12459)Gta>Ata	p.V4153I	HMCN1_ENST00000367492.2_Missense_Mutation_p.V4153I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4153	Ig-like C2-type 40.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGCAGCCAATGTAGCAGGATC	0.498																																						uc001grq.1																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(12457-12459)Gta>Ata		Homo sapiens hemicentin 1 (HMCN1), mRNA.							58.0	43.0	48.0					1																	186092310		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186092310G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.12457G>A	1.37:g.186092310G>A	ENSP00000271588:p.Val4153Ile					MIR548F1_uc021pgf.1_Intron	p.V4153I	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			80	12686	+			4153			Ig-like C2-type 40.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.12457G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	8.189	0.795518	0.16327	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66638	-0.22;-0.22	5.85	4.93	0.64822	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.378356	0.29480	N	0.012030	T	0.52322	0.1727	N	0.26092	0.79	0.22050	N	0.999399	B	0.33448	0.412	B	0.37198	0.243	T	0.46076	-0.9217	10	0.35671	T	0.21	.	7.5249	0.27650	0.1468:0.1372:0.716:0.0	.	4153	Q96RW7	HMCN1_HUMAN	I	4153	ENSP00000271588:V4153I;ENSP00000356462:V4153I	ENSP00000271588:V4153I	V	+	1	0	HMCN1	184358933	0.008000	0.16893	0.584000	0.28653	0.012000	0.07955	1.104000	0.31074	1.449000	0.47699	0.655000	0.94253	GTA		0.498	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
CAMSAP2	23271	broad.mit.edu	37	1	200823985	200823985	+	Silent	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:200823985C>T	ENST00000236925.4	+	15	3946	c.3897C>T	c.(3895-3897)aaC>aaT	p.N1299N	CAMSAP2_ENST00000413307.2_Silent_p.N1272N|CAMSAP2_ENST00000358823.2_Silent_p.N1288N			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1299					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										CGGGTGATAACGAGAGTGTAC	0.343																																						uc001gvl.3																			0											c.(3895-3897)aaC>aaT		Homo sapiens calmodulin regulated spectrin-associated protein family, member 2 (CAMSAP2), mRNA.							92.0	88.0	89.0					1																	200823985		2203	4300	6503	SO:0001819	synonymous_variant	23271					cytoplasm|microtubule	protein binding	g.chr1:200823985C>T	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.3897C>T	1.37:g.200823985C>T						CAMSAP2_uc001gvk.3_Silent_p.N1288N|CAMSAP2_uc001gvm.3_Silent_p.N1272N	p.N1299N	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN			14	4167	+			1299					B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Silent	SNP	ENST00000236925.4	37	c.3897C>T																																																																																					0.343	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459	
CHML	1122	broad.mit.edu	37	1	241797187	241797187	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:241797187G>A	ENST00000366553.1	-	1	2045	c.1882C>T	c.(1882-1884)Cct>Tct	p.P628S	OPN3_ENST00000366554.2_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	628					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)	p.P628S(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TTGGTTCCAGGAGCCTCTGGC	0.418																																						uc001hzd.3																			1	Substitution - Missense(1)	p.P628S(2)	ovary(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26						c.(1882-1884)Cct>Tct		Homo sapiens choroideremia-like (Rab escort protein 2) (CHML), mRNA.							148.0	155.0	152.0					1																	241797187		2203	4299	6502	SO:0001583	missense	1122				intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chr1:241797187G>A	X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.1882C>T	1.37:g.241797187G>A	ENSP00000355511:p.Pro628Ser					OPN3_uc001hza.3_Intron|OPN3_uc001hzb.3_Intron|OPN3_uc001hzc.3_Intron	p.P628S	NM_001821	NP_001812	P26374	RAE2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		0	2046	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	628					B2RAB9|Q17RE0|Q9H1Y4	Missense_Mutation	SNP	ENST00000366553.1	37	c.1882C>T	CCDS31073.1	.	.	.	.	.	.	.	.	.	.	G	0.280	-0.986950	0.02180	.	.	ENSG00000203668	ENST00000366553	D	0.87729	-2.29	4.55	-2.9	0.05648	.	1.182510	0.06378	N	0.714704	T	0.66799	0.2826	.	.	.	0.09310	N	1	B	0.12630	0.006	B	0.11329	0.006	T	0.59408	-0.7460	9	0.02654	T	1	0.241	6.4577	0.21938	0.5583:0.0:0.3099:0.1318	.	628	P26374	RAE2_HUMAN	S	628	ENSP00000355511:P628S	ENSP00000355511:P628S	P	-	1	0	CHML	239863810	0.001000	0.12720	0.016000	0.15963	0.125000	0.20455	-0.591000	0.05753	-0.566000	0.06054	-0.122000	0.15005	CCT		0.418	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	NM_001821	
MYOF	26509	broad.mit.edu	37	10	95134679	95134679	+	Silent	SNP	G	G	A	rs372347097		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr10:95134679G>A	ENST00000359263.4	-	23	2141	c.2142C>T	c.(2140-2142)aaC>aaT	p.N714N	MYOF_ENST00000358334.5_Silent_p.N701N|MYOF_ENST00000371501.4_Silent_p.N714N|MYOF_ENST00000371502.4_Silent_p.N714N	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	714					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GAACTGTGACGTTGGCTTTTC	0.448																																						uc001kin.3																			0				NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(2140-2142)aaC>aaT		Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.							67.0	64.0	65.0					10																	95134679		1914	4122	6036	SO:0001819	synonymous_variant	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95134679G>A	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.2142C>T	10.37:g.95134679G>A						MYOF_uc001kio.3_Silent_p.N701N|MYOF_uc009xue.3_Non-coding_Transcript	p.N714N	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN			22	2265	-			714					B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Silent	SNP	ENST00000359263.4	37	c.2142C>T	CCDS41551.1																																																																																				0.448	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451	
LRRC27	80313	broad.mit.edu	37	10	134165159	134165159	+	Silent	SNP	G	G	A	rs147065829		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr10:134165159G>A	ENST00000368614.3	+	7	1080	c.975G>A	c.(973-975)ccG>ccA	p.P325P	LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000344079.5_Missense_Mutation_p.R357H|LRRC27_ENST00000368613.4_Silent_p.P325P|LRRC27_ENST00000432555.2_Silent_p.P198P|LRRC27_ENST00000368612.1_Silent_p.P263P|LRRC27_ENST00000368610.3_Silent_p.P263P|LRRC27_ENST00000392638.2_Missense_Mutation_p.R357H|LRRC27_ENST00000368615.3_Silent_p.P325P	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	325										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		TCTTGTCACCGTACCAAATGG	0.527																																						uc010quw.1																			0		p.P325Q(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18						c.(973-975)ccG>ccA		Homo sapiens leucine rich repeat containing 27 (LRRC27), transcript variant 1, mRNA.		G	,,HIS/ARG,	1,4405	2.1+/-5.4	0,1,2202	138.0	151.0	146.0		975,975,1070,975	-8.8	0.0	10	dbSNP_134	146	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,missense,coding-synonymous	LRRC27	NM_001143757.1,NM_001143758.1,NM_001143759.1,NM_030626.2	,,29,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	325/531,325/384,357/384,325/531	134165159	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80313							g.chr10:134165159G>A	AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.975G>A	10.37:g.134165159G>A						LRRC27_uc001llf.2_Missense_Mutation_p.R357H|LRRC27_uc010quv.1_Silent_p.P325P|LRRC27_uc001llg.2_Non-coding_Transcript|LRRC27_uc001lli.2_Silent_p.P325P|LRRC27_uc001llj.2_Silent_p.P263P|LRRC27_uc001llk.4_Silent_p.P198P	p.P325P	NM_030626	NP_085129	Q9C0I9	LRC27_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)	6	1170	+		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	325					A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Silent	SNP	ENST00000368614.3	37	c.975G>A	CCDS31316.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925167	0.52759	2.27E-4	0.0	ENSG00000148814	ENST00000392638;ENST00000344079	T;T	0.19394	2.15;2.15	4.41	-8.83	0.00806	.	.	.	.	.	T	0.10508	0.0257	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.25187	-1.0139	8	0.48119	T	0.1	1.3643	3.1131	0.06365	0.4867:0.1876:0.231:0.0947	.	357	Q9C0I9-3	.	H	357	ENSP00000376413:R357H;ENSP00000342641:R357H	ENSP00000342641:R357H	R	+	2	0	LRRC27	134015149	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.965000	0.00670	-2.911000	0.00308	-1.020000	0.02445	CGT		0.527	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	XM_290462	
FAM160A2	84067	broad.mit.edu	37	11	6239211	6239211	+	Silent	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr11:6239211G>A	ENST00000449352.2	-	9	1868	c.1605C>T	c.(1603-1605)ggC>ggT	p.G535G	FAM160A2_ENST00000524416.1_Silent_p.G535G|FAM160A2_ENST00000529360.1_5'Flank|FAM160A2_ENST00000265978.4_Silent_p.G549G			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	535					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TAGGCCGTCGGCCAGGGCTGG	0.652																																						uc001mck.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1645-1647)ggC>ggT		Homo sapiens family with sequence similarity 160, member A2 (FAM160A2), transcript variant 1, mRNA.							39.0	40.0	40.0					11																	6239211		2201	4296	6497	SO:0001819	synonymous_variant	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6239211G>A		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.1605C>T	11.37:g.6239211G>A						FAM160A2_uc001mcl.4_Silent_p.G535G|FAM160A2_uc001mcm.2_Silent_p.G535G	p.G549G	NM_032127	NP_115503	Q8N612	F16A2_HUMAN			8	2006	-			535					Q9C0A4|Q9H0N3|Q9H624	Silent	SNP	ENST00000449352.2	37	c.1647C>T	CCDS44530.1																																																																																				0.652	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127	
SLC35C1	55343	broad.mit.edu	37	11	45827648	45827648	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr11:45827648C>T	ENST00000314134.3	+	1	1692	c.296C>T	c.(295-297)cCt>cTt	p.P99L	SLC35C1_ENST00000456334.1_Missense_Mutation_p.P86L|SLC35C1_ENST00000442528.2_Missense_Mutation_p.P86L	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	99					carbohydrate transport (GO:0008643)|lipid glycosylation (GO:0030259)|negative regulation of Notch signaling pathway (GO:0045746)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		GCCTGCTGCCCTGGTGCCGTG	0.652																																						uc001nbp.3																			0				endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(295-297)cCt>cTt		Homo sapiens solute carrier family 35, member C1 (SLC35C1), transcript variant 1, mRNA.							73.0	62.0	66.0					11																	45827648		2203	4299	6502	SO:0001583	missense	55343					Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity	g.chr11:45827648C>T		CCDS7914.1, CCDS44575.1	11p11.2	2014-09-17	2013-07-17			ENSG00000181830		"""Solute carriers"""	20197	protein-coding gene	gene with protein product		605881	"""solute carrier family 35, member C1"""			11326279, 11326280	Standard	NM_018389		Approved	FUCT1, FLJ11320	uc010rgm.2	Q96A29		ENST00000314134.3:c.296C>T	11.37:g.45827648C>T	ENSP00000313318:p.Pro99Leu					SLC35C1_uc001nbo.3_Missense_Mutation_p.P86L|SLC35C1_uc010rgm.2_Missense_Mutation_p.P86L	p.P99L	NM_018389	NP_001138738	Q96A29	FUCT1_HUMAN		GBM - Glioblastoma multiforme(35;0.227)	0	1008	+			99					B2RDB2|Q9BV76|Q9NUJ8	Missense_Mutation	SNP	ENST00000314134.3	37	c.296C>T	CCDS7914.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.756729	0.89843	.	.	ENSG00000181830	ENST00000442528;ENST00000456334;ENST00000314134;ENST00000530471;ENST00000540685	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	4.97	3.07	0.35406	Drug/metabolite transporter (1);	0.000000	0.85682	D	0.000000	T	0.67757	0.2927	M	0.89840	3.065	0.80722	D	1	D	0.69078	0.997	D	0.69307	0.963	T	0.69551	-0.5115	10	0.42905	T	0.14	-18.9755	8.1477	0.31121	0.0:0.726:0.1406:0.1334	.	99	Q96A29	FUCT1_HUMAN	L	86;86;99;86;99	ENSP00000412408:P86L;ENSP00000399779:P86L;ENSP00000313318:P99L;ENSP00000432669:P86L	ENSP00000313318:P99L	P	+	2	0	SLC35C1	45784224	1.000000	0.71417	0.937000	0.37676	0.971000	0.66376	5.649000	0.67936	2.313000	0.78055	0.557000	0.71058	CCT		0.652	SLC35C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390139.1	NM_018389	
OR4C11	219429	broad.mit.edu	37	11	55371296	55371296	+	Missense_Mutation	SNP	A	A	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr11:55371296A>T	ENST00000302231.4	-	1	578	c.554T>A	c.(553-555)cTt>cAt	p.L185H		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	185						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						CATGCAGGCAAGTTTCAACAA	0.398																																						uc010rii.2																			0		p.L185L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						c.(553-555)cTt>cAt		Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.							85.0	69.0	75.0					11																	55371296		2177	4010	6187	SO:0001583	missense	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371296A>T	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"""GPCR / Class A : Olfactory receptors"""	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.554T>A	11.37:g.55371296A>T	ENSP00000306651:p.Leu185His						p.L185H	NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN			0	579	-			185					B9EIL4|Q8NGL8	Missense_Mutation	SNP	ENST00000302231.4	37	c.554T>A	CCDS31503.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.136439	0.77662	.	.	ENSG00000172188	ENST00000302231	T	0.00411	7.53	4.34	4.34	0.51931	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39407	U	0.001377	T	0.02047	0.0064	H	0.96805	3.885	0.34086	D	0.660095	D	0.89917	1.0	D	0.97110	1.0	T	0.03576	-1.1023	10	0.87932	D	0	.	12.7832	0.57489	1.0:0.0:0.0:0.0	.	185	Q6IEV9	OR4CB_HUMAN	H	185	ENSP00000306651:L185H	ENSP00000306651:L185H	L	-	2	0	OR4C11	55127872	0.992000	0.36948	1.000000	0.80357	0.995000	0.86356	7.551000	0.82182	1.962000	0.57031	0.391000	0.25812	CTT		0.398	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700	
OR4P4	81300	broad.mit.edu	37	11	55405976	55405976	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr11:55405976C>T	ENST00000314612.2	+	1	143	c.143C>T	c.(142-144)aCg>aTg	p.T48M		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						ATTTCTATCACGTGCACCCAG	0.388																																						uc010rij.2																			0		p.T48A(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						c.(142-144)aCg>aTg		Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA.							176.0	152.0	161.0					11																	55405976		2180	4034	6214	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55405976C>T	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.143C>T	11.37:g.55405976C>T	ENSP00000324831:p.Thr48Met						p.T48M	NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN			0	143	+			48						Missense_Mutation	SNP	ENST00000314612.2	37	c.143C>T	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	C	8.396	0.840944	0.16891	.	.	ENSG00000181927	ENST00000314612	T	0.01084	5.36	5.09	0.536	0.17138	GPCR, rhodopsin-like superfamily (1);	0.417145	0.17977	N	0.155643	T	0.01189	0.0039	L	0.55481	1.735	0.09310	N	1	P	0.35401	0.499	B	0.36504	0.226	T	0.44862	-0.9300	10	0.23891	T	0.37	-3.3823	1.8499	0.03167	0.1403:0.4836:0.1366:0.2395	.	48	Q8NGL7	OR4P4_HUMAN	M	48	ENSP00000324831:T48M	ENSP00000324831:T48M	T	+	2	0	OR4P4	55162552	0.000000	0.05858	0.182000	0.23118	0.428000	0.31595	-3.627000	0.00410	0.565000	0.29255	-0.185000	0.12909	ACG		0.388	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124	
OR5M1	390168	broad.mit.edu	37	11	56380780	56380780	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr11:56380780A>G	ENST00000526538.1	-	1	198	c.199T>C	c.(199-201)Tcc>Ccc	p.S67P		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TCTACAAAGGAGAGGTGGCCA	0.463																																						uc001nja.1																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						c.(199-201)Tcc>Ccc		Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.							176.0	171.0	172.0					11																	56380780		1956	4156	6112	SO:0001583	missense	390168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56380780A>G	AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"""GPCR / Class A : Olfactory receptors"""	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.199T>C	11.37:g.56380780A>G	ENSP00000435416:p.Ser67Pro					OR8U8_uc001nit.2_Intron	p.S67P	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN			0	199	-			67					Q6IF60|Q96RB6	Missense_Mutation	SNP	ENST00000526538.1	37	c.199T>C	CCDS53631.1	.	.	.	.	.	.	.	.	.	.	A	14.13	2.442541	0.43326	.	.	ENSG00000255012	ENST00000526538	T	0.02067	4.47	3.71	1.18	0.20946	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39475	N	0.001354	T	0.13372	0.0324	H	0.96460	3.825	0.24499	N	0.994262	D	0.67145	0.996	P	0.62649	0.905	T	0.04991	-1.0913	10	0.72032	D	0.01	-52.5691	5.6496	0.17608	0.5814:0.3212:0.0973:0.0	.	67	Q8NGP8	OR5M1_HUMAN	P	67	ENSP00000435416:S67P	ENSP00000435416:S67P	S	-	1	0	OR5M1	56137356	0.834000	0.29399	0.999000	0.59377	0.871000	0.50021	1.900000	0.39828	0.502000	0.28037	0.232000	0.17820	TCC		0.463	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740	
OR5AR1	219493	broad.mit.edu	37	11	56431356	56431356	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr11:56431356C>A	ENST00000302969.2	+	1	219	c.195C>A	c.(193-195)aaC>aaA	p.N65K		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TCCTCTGCAACCTCTCCTTTG	0.453																																						uc010rjm.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						c.(193-195)aaC>aaA		Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.							262.0	261.0	261.0					11																	56431356		2201	4296	6497	SO:0001583	missense	219493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56431356C>A	AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"""GPCR / Class A : Olfactory receptors"""	15260	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AR, member 1"""				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.195C>A	11.37:g.56431356C>A	ENSP00000302639:p.Asn65Lys					OR8U8_uc001nit.2_Intron	p.N65K	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN			0	195	+			65					Q6IF61	Missense_Mutation	SNP	ENST00000302969.2	37	c.195C>A	CCDS31535.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325960	0.60743	.	.	ENSG00000172459	ENST00000302969	T	0.01947	4.54	5.16	0.189	0.15119	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000089	T	0.08891	0.0220	M	0.92691	3.335	0.28234	N	0.925965	D	0.62365	0.991	P	0.53490	0.727	T	0.04900	-1.0919	10	0.72032	D	0.01	.	6.3612	0.21429	0.0:0.4948:0.1302:0.375	.	65	Q8NGP9	O5AR1_HUMAN	K	65	ENSP00000302639:N65K	ENSP00000302639:N65K	N	+	3	2	OR5AR1	56187932	0.001000	0.12720	0.998000	0.56505	0.941000	0.58515	-0.101000	0.10973	0.011000	0.14865	0.573000	0.79308	AAC		0.453	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1	NM_001004730	
LRP5	4041	broad.mit.edu	37	11	68191121	68191121	+	Silent	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr11:68191121G>A	ENST00000294304.7	+	14	3298	c.3192G>A	c.(3190-3192)ggG>ggA	p.G1064G		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1064	Beta-propeller 4.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGCTGCGTGGGGACCGCGACA	0.677																																						uc001ont.3																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(3190-3192)ggG>ggA		Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.							81.0	74.0	77.0					11																	68191121		2200	4294	6494	SO:0001819	synonymous_variant	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68191121G>A	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.3192G>A	11.37:g.68191121G>A						LRP5_uc009ysg.3_Silent_p.G474G	p.G1064G	NM_002335	NP_002326	O75197	LRP5_HUMAN			13	3267	+			1064			Beta-propeller 4.		Q96TD6|Q9UES7|Q9UP66	Silent	SNP	ENST00000294304.7	37	c.3192G>A	CCDS8181.1																																																																																				0.677	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335	
CLPB	81570	broad.mit.edu	37	11	72005108	72005108	+	Silent	SNP	G	G	A	rs147296630	byFrequency	TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr11:72005108G>A	ENST00000294053.3	-	16	2006	c.1833C>T	c.(1831-1833)gaC>gaT	p.D611D	CLPB_ENST00000543042.1_Silent_p.D410D|CLPB_ENST00000437826.2_Silent_p.D566D|CLPB_ENST00000538021.1_Silent_p.D219D|CLPB_ENST00000538039.1_Silent_p.D581D|CLPB_ENST00000340729.5_Silent_p.D552D	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	611					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						CATTGTAGCCGTCGACCAGCA	0.612																																						uc001osj.3																			0				endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						c.(1831-1833)gaC>gaT		Homo sapiens ClpB caseinolytic peptidase B homolog (E. coli) (CLPB), mRNA.		G		0,4400		0,0,2200	103.0	67.0	80.0		1833	-8.7	0.8	11	dbSNP_134	80	1,8585	1.2+/-3.3	0,1,4292	no	coding-synonymous	CLPB	NM_030813.3		0,1,6492	AA,AG,GG		0.0116,0.0,0.0077		611/708	72005108	1,12985	2200	4293	6493	SO:0001819	synonymous_variant	81570				cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr11:72005108G>A	BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"""Ankyrin repeat domain containing"""	30664	protein-coding gene	gene with protein product	"""suppressor of potassium transport defect 3"""					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.1833C>T	11.37:g.72005108G>A						CLPB_uc010rqx.2_Silent_p.D566D|CLPB_uc010rqy.2_Silent_p.D552D|CLPB_uc001osk.3_Silent_p.D581D|CLPB_uc010rqz.2_Silent_p.D410D|CLPB_uc001osi.3_Silent_p.D219D	p.D611D	NM_030813	NP_110440	Q9H078	CLPB_HUMAN			15	1883	-			611					B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Silent	SNP	ENST00000294053.3	37	c.1833C>T	CCDS8215.1																																																																																				0.612	CLPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396889.1	NM_030813	
TMEM25	84866	broad.mit.edu	37	11	118403822	118403822	+	Silent	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr11:118403822C>T	ENST00000313236.5	+	4	626	c.573C>T	c.(571-573)acC>acT	p.T191T	RP11-770J1.3_ENST00000532597.1_RNA|TMEM25_ENST00000442938.2_Silent_p.T191T|RP11-770J1.3_ENST00000554407.1_RNA|RP11-770J1.3_ENST00000528578.1_RNA|TMEM25_ENST00000524725.1_Silent_p.T191T|TMEM25_ENST00000359862.4_Silent_p.T191T|TMEM25_ENST00000544878.1_Intron|TMEM25_ENST00000354284.4_Silent_p.T191T|TMEM25_ENST00000354064.7_Silent_p.T87T|TMEM25_ENST00000411589.2_Silent_p.T191T|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000556583.1_RNA|TMEM25_ENST00000533102.1_Silent_p.T191T|TMEM25_ENST00000529001.1_3'UTR	NM_032780.3	NP_116169.2	Q86YD3	TMM25_HUMAN	transmembrane protein 25	191						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		CCTGGCTCACCAACCACACGG	0.632																																						uc001ptk.4																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13						c.(571-573)acC>acT		Homo sapiens transmembrane protein 25 (TMEM25), transcript variant 4, mRNA.							78.0	63.0	68.0					11																	118403822		2200	4295	6495	SO:0001819	synonymous_variant	84866					extracellular region|integral to membrane|plasma membrane		g.chr11:118403822C>T	AK075437	CCDS8398.1, CCDS44745.1, CCDS44746.1, CCDS44747.1, CCDS44748.1	11q23.3	2013-01-11			ENSG00000149582	ENSG00000149582		"""Immunoglobulin superfamily / C2-set domain containing"""	25890	protein-coding gene	gene with protein product		613934				15254712, 12975309	Standard	NM_001144034		Approved	FLJ14399	uc010rye.2	Q86YD3	OTTHUMG00000166339	ENST00000313236.5:c.573C>T	11.37:g.118403822C>T						TMEM25_uc010ryd.1_Silent_p.T191T|TMEM25_uc010ryf.2_Intron|TMEM25_uc010rye.2_Silent_p.T191T|TMEM25_uc009zad.3_Silent_p.T191T|TMEM25_uc001pth.3_Silent_p.T191T|TMEM25_uc001pti.3_Silent_p.T87T|TMEM25_uc001ptl.2_Silent_p.T191T|TMEM25_uc001ptm.2_Silent_p.T191T	p.T191T	NM_001144037	NP_001137509	Q86YD3	TMM25_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	3	747	+	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)	191					A8K8J4|B0YJA6|B0YJA7|B0YJA9|G5E9U4|Q6UW89|Q86UA7|Q8NBL5|Q96KA6|Q96MW9	Silent	SNP	ENST00000313236.5	37	c.573C>T	CCDS8398.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.56|10.56	1.385654|1.385654	0.25031|0.25031	.|.	.|.	ENSG00000149582|ENSG00000149582	ENST00000526973|ENST00000526853	.|.	.|.	.|.	5.97|5.97	5.06|5.06	0.68205|0.68205	.|.	.|.	.|.	.|.	.|.	T|.	0.64360|.	0.2591|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.63202|.	-0.6690|.	4|.	.|.	.|.	.|.	-34.9147|-34.9147	12.7617|12.7617	0.57367|0.57367	0.0:0.9245:0.0:0.0755|0.0:0.9245:0.0:0.0755	.|.	.|.	.|.	.|.	L|X	75|26	.|.	.|.	P|Q	+|+	2|1	0|0	TMEM25|TMEM25	117909032|117909032	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.953000|0.953000	0.61014|0.61014	2.654000|2.654000	0.46699|0.46699	1.536000|1.536000	0.49237|0.49237	0.655000|0.655000	0.94253|0.94253	CCA|CAA		0.632	TMEM25-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389266.1	NM_032780	
AICDA	57379	broad.mit.edu	37	12	8757515	8757515	+	Missense_Mutation	SNP	T	T	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr12:8757515T>A	ENST00000229335.6	-	4	534	c.431A>T	c.(430-432)tAt>tTt	p.Y144F	AICDA_ENST00000537228.1_Intron	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	144					B cell differentiation (GO:0030183)|cellular response to lipopolysaccharide (GO:0071222)|DNA demethylation (GO:0080111)|isotype switching (GO:0045190)|mRNA processing (GO:0006397)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|somatic diversification of immunoglobulins (GO:0016445)|somatic hypermutation of immunoglobulin genes (GO:0016446)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					GCAGTAAAAATAATCTTCAAA	0.428																																					GBM(62;896 1067 5527 26594 30137)	uc001qur.2																			0		p.Y144H(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16						c.(430-432)tAt>tTt		Homo sapiens activation-induced cytidine deaminase (AICDA), mRNA.							42.0	40.0	40.0					12																	8757515		1791	4059	5850	SO:0001583	missense	57379				B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding	g.chr12:8757515T>A	AB040430	CCDS41747.1	12p13	2014-09-17			ENSG00000111732	ENSG00000111732		"""Apolipoprotein B mRNA editing enzymes"""	13203	protein-coding gene	gene with protein product		605257					Standard	NM_020661		Approved	HIGM2, CDA2, ARP2, AID	uc001qur.2	Q9GZX7	OTTHUMG00000168676	ENST00000229335.6:c.431A>T	12.37:g.8757515T>A	ENSP00000229335:p.Tyr144Phe					AICDA_uc001qup.1_Intron|AICDA_uc001quq.1_Intron|AICDA_uc009zgd.1_Intron	p.Y144F	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN			3	510	-	Lung SC(5;0.184)		144					Q6QJ81|Q8NFC1	Missense_Mutation	SNP	ENST00000229335.6	37	c.431A>T	CCDS41747.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	1.444|1.444	-0.566734|-0.566734	0.03910|0.03910	.|.	.|.	ENSG00000111732|ENSG00000111732	ENST00000545512|ENST00000229335	.|T	.|0.62788	.|-0.0	5.44|5.44	5.44|5.44	0.79542|0.79542	.|APOBEC-like, C-terminal (1);Cytidine deaminase-like (1);	.|0.367274	.|0.31566	.|N	.|0.007423	T|T	0.28366|0.28366	0.0701|0.0701	N|N	0.02721|0.02721	-0.515|-0.515	0.80722|0.80722	D|D	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.08055	.|0.003	T|T	0.34304|0.34304	-0.9834|-0.9834	5|10	.|0.02654	.|T	.|1	-14.7489|-14.7489	5.0339|5.0339	0.14424|0.14424	0.1615:0.0849:0.0:0.7537|0.1615:0.0849:0.0:0.7537	.|.	.|144	.|Q9GZX7	.|AICDA_HUMAN	F|F	143|144	.|ENSP00000229335:Y144F	.|ENSP00000229335:Y144F	I|Y	-|-	1|2	0|0	AICDA|AICDA	8648782|8648782	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.890000|0.890000	0.51754|0.51754	1.801000|1.801000	0.38843|0.38843	2.059000|2.059000	0.61396|0.61396	0.533000|0.533000	0.62120|0.62120	ATT|TAT		0.428	AICDA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400575.1	NM_020661	
MFSD5	84975	broad.mit.edu	37	12	53646716	53646716	+	Missense_Mutation	SNP	T	T	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr12:53646716T>A	ENST00000329548.4	+	2	288	c.97T>A	c.(97-99)Tgc>Agc	p.C33S	MFSD5_ENST00000534842.1_Missense_Mutation_p.C140S	NM_032889.4	NP_116278.3	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	33					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						TGGAAGGGCCTGCAGCAATCC	0.572																																						uc001sch.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						c.(418-420)Tgc>Agc		Homo sapiens major facilitator superfamily domain containing 5 (MFSD5), transcript variant 1, mRNA.							105.0	112.0	110.0					12																	53646716		2203	4300	6503	SO:0001583	missense	84975				transport	integral to membrane		g.chr12:53646716T>A	AK097576	CCDS8851.1, CCDS53796.1	12q13.13	2012-03-09			ENSG00000182544	ENSG00000182544			28156	protein-coding gene	gene with protein product							Standard	NM_032889		Approved	MGC11308	uc001sch.2	Q6N075	OTTHUMG00000170028	ENST00000329548.4:c.97T>A	12.37:g.53646716T>A	ENSP00000332624:p.Cys33Ser					MFSD5_uc001sci.2_Missense_Mutation_p.C33S|MFSD5_uc021qye.1_Missense_Mutation_p.C33S	p.C140S	NM_001170790	NP_116278	Q6N075	MFSD5_HUMAN			1	565	+			33					G3V1N7|Q6NW04|Q8N7W8|Q8NCK0|Q96IA5	Missense_Mutation	SNP	ENST00000329548.4	37	c.418T>A	CCDS8851.1	.	.	.	.	.	.	.	.	.	.	T	3.449	-0.112471	0.06881	.	.	ENSG00000182544	ENST00000551660;ENST00000534842;ENST00000328704;ENST00000329548	.	.	.	4.3	4.3	0.51218	.	0.242590	0.31821	N	0.007002	T	0.17704	0.0425	N	0.02011	-0.69	0.37756	D	0.926138	B;B	0.15141	0.003;0.012	B;B	0.17979	0.002;0.02	T	0.17623	-1.0363	9	0.06494	T	0.89	-4.9904	8.9899	0.36017	0.0:0.0:0.1868:0.8132	.	33;140	Q6N075;G3V1N7	MFSD5_HUMAN;.	S	140;140;140;33	.	ENSP00000331231:C140S	C	+	1	0	MFSD5	51932983	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.961000	0.40432	1.817000	0.53016	0.459000	0.35465	TGC		0.572	MFSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406896.1	NM_032889	
SPIC	121599	broad.mit.edu	37	12	101880531	101880531	+	Silent	SNP	A	A	G			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr12:101880531A>G	ENST00000551346.1	+	6	888	c.729A>G	c.(727-729)ctA>ctG	p.L243L	SPIC_ENST00000299272.5_Silent_p.L243L			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	243					blastocyst development (GO:0001824)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						ACCATGAGCTAAATCACCATG	0.323																																						uc001tid.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						c.(727-729)ctA>ctG		Homo sapiens Spi-C transcription factor (Spi-1/PU.1 related) (SPIC), mRNA.							43.0	52.0	49.0					12																	101880531		2196	4285	6481	SO:0001819	synonymous_variant	121599					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:101880531A>G	AF518404	CCDS9082.1	12q23	2005-10-18				ENSG00000166211			29549	protein-coding gene	gene with protein product		612568				12459275	Standard	NM_152323		Approved	MGC40611, SPI-C	uc021rcq.1	Q8N5J4	OTTHUMG00000170273	ENST00000551346.1:c.729A>G	12.37:g.101880531A>G						SPIC_uc010svp.2_Silent_p.L243L|SPIC_uc009zua.3_Silent_p.L118L|SPIC_uc021rcq.1_Silent_p.L118L	p.L243L	NM_152323	NP_689536	Q8N5J4	SPIC_HUMAN			5	888	+			243						Silent	SNP	ENST00000551346.1	37	c.729A>G	CCDS9082.1																																																																																				0.323	SPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408260.1	NM_152323	
CIT	11113	broad.mit.edu	37	12	120148180	120148180	+	Silent	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr12:120148180C>T	ENST00000261833.7	-	38	4873	c.4821G>A	c.(4819-4821)gtG>gtA	p.V1607V	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Silent_p.V1649V	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1607	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CCTCGGTGCCCACCAACACCA	0.512																																						uc001txj.2																			0		p.N1649S(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(4945-4947)gtG>gtA		Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.							73.0	71.0	72.0					12																	120148180		2203	4300	6503	SO:0001819	synonymous_variant	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120148180C>T	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.4821G>A	12.37:g.120148180C>T						CIT_uc001txh.2_Silent_p.V1126V|CIT_uc001txi.2_Silent_p.V1607V	p.V1649V	NM_001206999	NP_001193928	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	38	5003	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	1607			CNH.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Silent	SNP	ENST00000261833.7	37	c.4947G>A	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.399440	0.25291	.	.	ENSG00000122966	ENST00000392520	.	.	.	5.86	1.84	0.25277	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.3357	0.11085	0.2091:0.5584:0.1047:0.1278	.	.	.	.	X	1220	.	.	W	-	2	0	CIT	118632563	0.995000	0.38212	1.000000	0.80357	0.996000	0.88848	0.438000	0.21559	0.825000	0.34637	0.655000	0.94253	TGG		0.512	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174	
OASL	8638	broad.mit.edu	37	12	121471350	121471350	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr12:121471350A>G	ENST00000257570.5	-	2	665	c.395T>C	c.(394-396)gTc>gCc	p.V132A	OASL_ENST00000339275.5_Missense_Mutation_p.V132A	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	132					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|transferase activity (GO:0016740)			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGCATCGGGGACTCTCTGCTC	0.587																																					Colon(192;517 2041 31392 31913 39966)	uc001tzj.1																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14						c.(394-396)gTc>gCc		Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA.							122.0	104.0	110.0					12																	121471350		2203	4300	6503	SO:0001583	missense	8638				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity	g.chr12:121471350A>G	AF063611	CCDS9211.1, CCDS9212.1, CCDS73536.1	12q24.2	2008-08-05			ENSG00000135114	ENSG00000135114			8090	protein-coding gene	gene with protein product		603281				10087211	Standard	NM_003733		Approved	TRIP14, p59OASL	uc001tzj.2	Q15646	OTTHUMG00000154981	ENST00000257570.5:c.395T>C	12.37:g.121471350A>G	ENSP00000257570:p.Val132Ala					OASL_uc001tzk.1_Missense_Mutation_p.V132A	p.V132A	NM_003733	NP_003724	Q15646	OASL_HUMAN			1	401	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		132					B2RAZ2|I1YDD2|O75686|Q17R95|Q9Y6K6|Q9Y6K7	Missense_Mutation	SNP	ENST00000257570.5	37	c.395T>C	CCDS9211.1	.	.	.	.	.	.	.	.	.	.	A	3.767	-0.048498	0.07407	.	.	ENSG00000135114	ENST00000257570;ENST00000339275	T;T	0.08193	3.12;3.12	4.67	2.24	0.28232	.	0.000000	0.35708	N	0.003031	T	0.05318	0.0141	L	0.45051	1.395	0.09310	N	1	B;B	0.13145	0.003;0.007	B;B	0.18871	0.023;0.006	T	0.45716	-0.9242	10	0.02654	T	1	-21.201	4.2082	0.10498	0.7279:0.0:0.0964:0.1757	.	132;132	Q15646-2;Q15646	.;OASL_HUMAN	A	132	ENSP00000257570:V132A;ENSP00000341125:V132A	ENSP00000257570:V132A	V	-	2	0	OASL	119955733	0.000000	0.05858	0.500000	0.27589	0.014000	0.08584	-0.755000	0.04782	0.356000	0.24157	0.459000	0.35465	GTC		0.587	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337875.2	NM_003733	
RIMBP2	23504	broad.mit.edu	37	12	130927081	130927081	+	Silent	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr12:130927081G>A	ENST00000261655.4	-	8	928	c.765C>T	c.(763-765)tcC>tcT	p.S255S	RIMBP2_ENST00000536002.1_Silent_p.S163S|RIMBP2_ENST00000535703.1_Silent_p.S163S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	255					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGCCGATGCCGGAATGGTTGA	0.597																																						uc001uil.2																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(763-765)tcC>tcT		Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.							193.0	179.0	184.0					12																	130927081		2203	4300	6503	SO:0001819	synonymous_variant	23504					cell junction|synapse		g.chr12:130927081G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.765C>T	12.37:g.130927081G>A						RIMBP2_uc001uim.3_Silent_p.S163S	p.S255S	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	7	981	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	255					Q96ID2	Silent	SNP	ENST00000261655.4	37	c.765C>T	CCDS31925.1																																																																																				0.597	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347	
PABPC3	5042	broad.mit.edu	37	13	25671129	25671129	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr13:25671129C>T	ENST00000281589.3	+	1	830	c.793C>T	c.(793-795)Cga>Tga	p.R265*		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	265	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TTACGTTGGTCGAGCTCAGAA	0.403																																						uc001upy.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(793-795)Cga>Tga		Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.							149.0	135.0	140.0					13																	25671129		2203	4300	6503	SO:0001587	stop_gained	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671129C>T	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.793C>T	13.37:g.25671129C>T	ENSP00000281589:p.Arg265*						p.R265*	NM_030979	NP_112241	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	0	854	+		Lung SC(185;0.0225)|Breast(139;0.0602)	265			RRM 3.		Q8NHV0|Q9H086	Nonsense_Mutation	SNP	ENST00000281589.3	37	c.793C>T	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	C	38	6.870043	0.97901	.	.	ENSG00000151846	ENST00000281589	.	.	.	0.875	0.875	0.19130	.	0.000000	0.40385	U	0.001106	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5489	0.27783	0.0:1.0:0.0:0.0	.	.	.	.	X	265	.	ENSP00000281589:R265X	R	+	1	2	PABPC3	24569129	1.000000	0.71417	0.991000	0.47740	0.924000	0.55760	3.630000	0.54273	0.759000	0.33084	0.313000	0.20887	CGA		0.403	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979	
OR4M1	441670	broad.mit.edu	37	14	20249075	20249075	+	Silent	SNP	G	G	T	rs182710959		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr14:20249075G>T	ENST00000315957.4	+	1	675	c.594G>T	c.(592-594)gtG>gtT	p.V198V		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGGAGTTAGTGATGATCTGTA	0.478																																						uc010tku.2																			0		p.V198L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42						c.(592-594)gtG>gtT		Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.							412.0	345.0	368.0					14																	20249075		2203	4300	6503	SO:0001819	synonymous_variant	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20249075G>T		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.594G>T	14.37:g.20249075G>T							p.V198V	NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	0	594	+	all_cancers(95;0.00108)		198					B9EH18|Q6IFA3	Silent	SNP	ENST00000315957.4	37	c.594G>T	CCDS32021.1																																																																																				0.478	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1		
JPH4	84502	broad.mit.edu	37	14	24040215	24040215	+	Silent	SNP	C	C	T	rs144311601		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr14:24040215C>T	ENST00000397118.3	-	6	2627	c.1725G>A	c.(1723-1725)tcG>tcA	p.S575S	JPH4_ENST00000544177.1_Silent_p.S240S|JPH4_ENST00000356300.4_Silent_p.S575S|AP1G2_ENST00000308724.5_5'Flank|RP11-66N24.3_ENST00000555968.1_RNA	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	575					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)		p.S575S(1)		endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CCCTCGAGGACGAGCCCCTCA	0.687																																						uc001wkq.2																			1	Substitution - coding silent(1)	p.S575S(2)	prostate(1)	endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1723-1725)tcG>tcA		Homo sapiens junctophilin 4 (JPH4), transcript variant 1, mRNA.		C	,	0,4406		0,0,2203	33.0	35.0	35.0		1725,1725	-9.6	0.0	14	dbSNP_134	35	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous	JPH4	NM_001146028.1,NM_032452.2	,	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	,	575/629,575/629	24040215	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	84502				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane		g.chr14:24040215C>T	AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"""junctophilin like 1"""	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1725G>A	14.37:g.24040215C>T						AP1G2_uc001wkl.2_5'Flank|AP1G2_uc001wkn.2_5'Flank|AP1G2_uc010tnp.1_5'Flank|AP1G2_uc010akt.3_5'Flank|JPH4_uc010tnr.1_Silent_p.S240S|JPH4_uc001wkr.2_Silent_p.S575S	p.S575S	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	5	2643	-	all_cancers(95;0.000251)		575					D3DS53|Q8ND44|Q96DQ0	Silent	SNP	ENST00000397118.3	37	c.1725G>A	CCDS9603.1																																																																																				0.687	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1	NM_032452	
IRF9	10379	broad.mit.edu	37	14	24635334	24635334	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr14:24635334G>A	ENST00000396864.3	+	9	1398	c.1111G>A	c.(1111-1113)Gag>Aag	p.E371K	IRF9_ENST00000557894.1_Missense_Mutation_p.G311E|RP11-468E2.4_ENST00000558468.1_3'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	371					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		AATACAGATGGAGCAGGCCTT	0.597																																						uc001wmq.3																			0				NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						c.(1111-1113)Gag>Aag		Homo sapiens interferon regulatory factor 9 (IRF9), mRNA.							60.0	57.0	58.0					14																	24635334		2203	4300	6503	SO:0001583	missense	10379				interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr14:24635334G>A	M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"""interferon-stimulated transcription factor 3, gamma (48kD)"", ""interferon-stimulated transcription factor 3, gamma 48kDa"""	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.1111G>A	14.37:g.24635334G>A	ENSP00000380073:p.Glu371Lys					RNF31_uc001wmp.3_Non-coding_Transcript|IRF9_uc010alj.3_Missense_Mutation_p.E155K	p.E371K	NM_006084	NP_006075	Q00978	IRF9_HUMAN		GBM - Glioblastoma multiforme(265;0.00853)	8	1931	+			371					D3DS61	Missense_Mutation	SNP	ENST00000396864.3	37	c.1111G>A	CCDS9615.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736066	0.89482	.	.	ENSG00000213928	ENST00000396864;ENST00000324076	D;D	0.94497	-3.44;-3.44	5.02	5.02	0.67125	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.799301	0.10413	U	0.677732	D	0.97188	0.9081	M	0.80422	2.495	0.31358	N	0.681751	D	0.64830	0.994	D	0.64506	0.926	D	0.94932	0.8083	10	0.87932	D	0	-12.9058	15.8875	0.79261	0.0:0.0:1.0:0.0	.	371	Q00978	IRF9_HUMAN	K	371;187	ENSP00000380073:E371K;ENSP00000313529:E187K	ENSP00000313529:E187K	E	+	1	0	IRF9	23705174	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	4.667000	0.61561	2.607000	0.88179	0.561000	0.74099	GAG		0.597	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071927.2		
FNTB	2342	broad.mit.edu	37	14	65520032	65520032	+	Silent	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr14:65520032G>A	ENST00000246166.2	+	10	1266	c.1032G>A	c.(1030-1032)caG>caA	p.Q344Q	FNTB_ENST00000447296.2_Silent_p.Q378Q|MAX_ENST00000341653.2_Intron|CHURC1-FNTB_ENST00000549987.1_Silent_p.Q379Q|FNTB_ENST00000542227.1_Silent_p.Q298Q	NM_002028.3	NP_002019.1	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	344					negative regulation of cell proliferation (GO:0008285)|phototransduction, visible light (GO:0007603)|positive regulation of cell cycle (GO:0045787)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|protein farnesylation (GO:0018343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to cytokine (GO:0034097)|response to inorganic substance (GO:0010035)|response to organic cyclic compound (GO:0014070)|rhodopsin mediated signaling pathway (GO:0016056)|wound healing (GO:0042060)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	farnesyltranstransferase activity (GO:0004311)|protein farnesyltransferase activity (GO:0004660)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		TGTGCTGCCAGTGCCCTGCGG	0.592																																						uc001xia.3																			0											c.(1030-1032)caG>caA		Homo sapiens farnesyltransferase, CAAX box, beta (FNTB), mRNA.							39.0	37.0	38.0					14																	65520032		2203	4300	6503	SO:0001819	synonymous_variant	2342				multicellular organismal development|positive regulation of transcription, DNA-dependent		transferase activity|zinc ion binding	g.chr14:65520032G>A		CCDS9769.1	14q23.3	2011-09-28			ENSG00000257365	ENSG00000257365			3785	protein-coding gene	gene with protein product		134636				8276393	Standard	NM_002028		Approved	FPTB		P49356	OTTHUMG00000142811	ENST00000246166.2:c.1032G>A	14.37:g.65520032G>A						CHURC1-FNTB_uc010tsl.2_Silent_p.Q405Q|CHURC1-FNTB_uc010tsm.2_Silent_p.Q298Q|MAX_uc001xic.1_Intron|CHURC1-FNTB_uc001xid.3_Silent_p.Q100Q|CHURC1-FNTB_uc010tso.2_Silent_p.Q259Q	p.Q344Q	NM_002028	NP_002019	B4DL54	B4DL54_HUMAN			9	1197	+			378					B2RDX6|B4E1A0	Silent	SNP	ENST00000246166.2	37	c.1032G>A	CCDS9769.1																																																																																				0.592	FNTB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000286392.1	NM_002028	
MAP1A	4130	broad.mit.edu	37	15	43820051	43820051	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr15:43820051C>G	ENST00000300231.5	+	4	6830	c.6380C>G	c.(6379-6381)cCt>cGt	p.P2127R	MAP1A_ENST00000399453.1_Missense_Mutation_p.P2127R|MAP1A_ENST00000382031.1_Missense_Mutation_p.P2365R			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2127					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TCCCCAAGTCCTCCTCACCCC	0.582																																						uc001zrt.3																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(6379-6381)cCt>cGt		Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	Estramustine(DB01196)						51.0	54.0	53.0					15																	43820051		1959	4155	6114	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43820051C>G	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.6380C>G	15.37:g.43820051C>G	ENSP00000300231:p.Pro2127Arg						p.P2127R	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	3	6847	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	2127					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.6380C>G	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.528021	0.27299	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01998	4.51;4.51;4.51	4.9	4.9	0.64082	.	0.000000	0.33691	N	0.004654	T	0.05914	0.0154	L	0.32530	0.975	0.47862	D	0.999537	D	0.57257	0.979	D	0.63793	0.918	T	0.33954	-0.9848	10	0.62326	D	0.03	-12.17	10.9433	0.47285	0.0:0.9142:0.0:0.0858	.	2127	P78559	MAP1A_HUMAN	R	2365;2127;2127	ENSP00000371462:P2365R;ENSP00000382380:P2127R;ENSP00000300231:P2127R	ENSP00000300231:P2127R	P	+	2	0	MAP1A	41607343	1.000000	0.71417	0.994000	0.49952	0.699000	0.40488	5.393000	0.66279	2.535000	0.85469	0.655000	0.94253	CCT		0.582	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373	
FGF7	2252	broad.mit.edu	37	15	49776594	49776594	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr15:49776594G>A	ENST00000267843.4	+	4	1089	c.478G>A	c.(478-480)Gga>Aga	p.G160R	FGF7_ENST00000560704.1_3'UTR|FAM227B_ENST00000299338.6_Intron|FAM227B_ENST00000561064.1_Intron	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	160					actin cytoskeleton reorganization (GO:0031532)|branching involved in salivary gland morphogenesis (GO:0060445)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle morphogenesis (GO:0031069)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization to cell surface (GO:0034394)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|response to wounding (GO:0009611)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)		GACACACAACGGAGGGGAAAT	0.353																																						uc001zxn.3																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(478-480)Gga>Aga		Homo sapiens fibroblast growth factor 7 (FGF7), mRNA.	Palifermin(DB00039)						50.0	49.0	49.0					15																	49776594		2033	3875	5908	SO:0001583	missense	2252				actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity	g.chr15:49776594G>A	M60828	CCDS10131.1	15q21.2	2014-01-30	2010-08-18		ENSG00000140285	ENSG00000140285		"""Endogenous ligands"""	3685	protein-coding gene	gene with protein product	"""keratinocyte growth factor"""	148180	"""fibroblast growth factor 7 (keratinocyte growth factor)"""			7749227, 1409637	Standard	NM_002009		Approved	KGF	uc001zxn.3	P21781	OTTHUMG00000131517	ENST00000267843.4:c.478G>A	15.37:g.49776594G>A	ENSP00000267843:p.Gly160Arg					C15orf33_uc001zxl.2_Intron|C15orf33_uc001zxm.3_Intron	p.G160R	NM_002009	NP_002000	P21781	FGF7_HUMAN		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	3	1007	+		all_lung(180;0.00391)	160					H0YNY5|Q6FGV5|Q96FG5	Missense_Mutation	SNP	ENST00000267843.4	37	c.478G>A	CCDS10131.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253508	0.59212	.	.	ENSG00000140285	ENST00000267843	T	0.68331	-0.32	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.83487	0.5265	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84536	0.0636	9	0.59425	D	0.04	.	19.2747	0.94027	0.0:0.0:1.0:0.0	.	160	P21781	FGF7_HUMAN	R	160	ENSP00000267843:G160R	ENSP00000267843:G160R	G	+	1	0	FGF7	47563886	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	4.766000	0.62279	2.628000	0.89032	0.650000	0.86243	GGA		0.353	FGF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254374.3	NM_002009	
BCL2L10	10017	broad.mit.edu	37	15	52404684	52404684	+	Silent	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr15:52404684C>T	ENST00000561198.1	-	1	281	c.240G>A	c.(238-240)ctG>ctA	p.L80L	BCL2L10_ENST00000260442.3_Silent_p.L80L			Q9HD36	B2L10_HUMAN	BCL2-like 10 (apoptosis facilitator)	70					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|female gamete generation (GO:0007292)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2				all cancers(107;0.0148)		AATCCGCCATCAGCGCCACCA	0.692																																						uc002abq.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2						c.(238-240)ctG>ctA		Homo sapiens BCL2-like 10 (apoptosis facilitator) (BCL2L10), mRNA.							13.0	16.0	15.0					15																	52404684		2187	4282	6469	SO:0001819	synonymous_variant	10017				activation of caspase activity|anti-apoptosis|female gamete generation|spermatogenesis	cytosol|integral to membrane|membrane fraction|mitochondrion|nuclear membrane	protein binding	g.chr15:52404684C>T	AF285092	CCDS10148.1	15q21	2007-03-02			ENSG00000137875	ENSG00000137875			993	protein-coding gene	gene with protein product		606910				9829980, 9878060	Standard	NM_020396		Approved	Diva, Boo, BCL-B	uc002abq.3	Q9HD36	OTTHUMG00000131893	ENST00000561198.1:c.240G>A	15.37:g.52404684C>T							p.L80L	NM_020396	NP_065129	Q9HD36	B2L10_HUMAN		all cancers(107;0.0148)	0	289	-			70					Q3SX80|Q52LQ9|Q8TCS9	Silent	SNP	ENST00000561198.1	37	c.240G>A																																																																																					0.692	BCL2L10-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000419386.1		
RFX7	64864	broad.mit.edu	37	15	56387837	56387837	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr15:56387837G>T	ENST00000559447.2	-	9	2069	c.1798C>A	c.(1798-1800)Caa>Aaa	p.Q600K	RFX7_ENST00000423270.1_Missense_Mutation_p.Q697K|RFX7_ENST00000317318.6_Missense_Mutation_p.Q697K|RFX7_ENST00000422057.1_Missense_Mutation_p.Q600K			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	600					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GGAACCTTTTGGTCCTTCTTA	0.453																																						uc010bfn.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(2089-2091)Caa>Aaa		Homo sapiens regulatory factor X, 7 (RFX7), mRNA.							127.0	116.0	120.0					15																	56387837		1916	4130	6046	SO:0001583	missense	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56387837G>T			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.1798C>A	15.37:g.56387837G>T	ENSP00000453281:p.Gln600Lys					RFX7_uc010ugk.1_Non-coding_Transcript|RFX7_uc002adn.1_Missense_Mutation_p.Q511K	p.Q697K	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN			8	2089	-			600					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000559447.2	37	c.2089C>A		.	.	.	.	.	.	.	.	.	.	G	6.118	0.390064	0.11581	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.53857	0.6;0.6;0.6	5.57	4.59	0.56863	.	0.570815	0.17241	N	0.181527	T	0.27798	0.0684	N	0.08118	0	0.26495	N	0.97487	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.11036	-1.0604	10	0.08179	T	0.78	-1.7287	10.2228	0.43207	0.0:0.1465:0.702:0.1516	.	600;600	Q2KHR2;C9JU50	RFX7_HUMAN;.	K	600;697;697	ENSP00000387504:Q600K;ENSP00000313299:Q697K;ENSP00000397644:Q697K	ENSP00000313299:Q697K	Q	-	1	0	RFX7	54175129	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.662000	0.61525	2.600000	0.87896	0.655000	0.94253	CAA		0.453	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841	
RPP25	54913	broad.mit.edu	37	15	75248658	75248658	+	Silent	SNP	C	C	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr15:75248658C>A	ENST00000322177.5	-	1	1147	c.267G>T	c.(265-267)gcG>gcT	p.A89A	RPP25_ENST00000499788.2_Silent_p.A89A	NM_017793.2	NP_060263.2	Q9BUL9	RPP25_HUMAN	ribonuclease P/MRP 25kDa subunit	89					tRNA processing (GO:0008033)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ribonuclease P activity (GO:0004526)			breast(1)|lung(1)	2						GGTGCAGGCCCGCCAGGCGGC	0.736																																						uc002azj.1																			0				breast(1)|lung(1)	2						c.(265-267)gcG>gcT		Homo sapiens ribonuclease P/MRP 25kDa subunit (RPP25), mRNA.							9.0	13.0	12.0					15																	75248658		2168	4239	6407	SO:0001819	synonymous_variant	54913				tRNA processing	nucleus	protein binding|ribonuclease P activity|RNA binding	g.chr15:75248658C>A	AY034074	CCDS10274.1	15q24.2	2012-05-21	2007-06-26		ENSG00000178718	ENSG00000178718			30361	protein-coding gene	gene with protein product	"""RNase P protein subunit p25"""		"""ribonuclease P 25kDa subunit"""			12003489	Standard	NM_017793		Approved	FLJ20374	uc002azj.1	Q9BUL9	OTTHUMG00000142822	ENST00000322177.5:c.267G>T	15.37:g.75248658C>A							p.A89A	NM_017793	NP_060263	Q9BUL9	RPP25_HUMAN			0	1118	-			89					D3DW70|Q9NX88	Silent	SNP	ENST00000322177.5	37	c.267G>T	CCDS10274.1																																																																																				0.736	RPP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286413.1	NM_017793	
IGF1R	3480	broad.mit.edu	37	15	99251218	99251218	+	Silent	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr15:99251218C>T	ENST00000268035.6	+	2	1133	c.522C>T	c.(520-522)ccC>ccT	p.P174P	IGF1R_ENST00000558762.1_Silent_p.P174P	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	174					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	GGAATAAGCCCCCAAAGGAAT	0.517																																						uc002bul.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(520-522)ccC>ccT		Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						115.0	103.0	107.0					15																	99251218		2197	4297	6494	SO:0001819	synonymous_variant	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99251218C>T	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.522C>T	15.37:g.99251218C>T						IGF1R_uc010urq.2_Silent_p.P174P|IGF1R_uc010bon.3_Silent_p.P174P	p.P174P	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		1	572	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		174					B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	ENST00000268035.6	37	c.522C>T	CCDS10378.1																																																																																				0.517	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875	
TEKT5	146279	broad.mit.edu	37	16	10788195	10788195	+	Missense_Mutation	SNP	G	G	A	rs370491307		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr16:10788195G>A	ENST00000283025.2	-	1	607	c.536C>T	c.(535-537)gCg>gTg	p.A179V	RP11-109M19.1_ENST00000576710.1_RNA	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	179						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						CTCATTGGCCGCGCACTCCAG	0.577																																						uc002czz.1																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						c.(535-537)gCg>gTg		Homo sapiens tektin 5 (TEKT5), mRNA.		G	VAL/ALA	0,4394		0,0,2197	139.0	153.0	148.0		536	4.6	0.4	16		148	1,8599	1.2+/-3.3	0,1,4299	no	missense	TEKT5	NM_144674.1	64	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	179/486	10788195	1,12993	2197	4300	6497	SO:0001583	missense	146279				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr16:10788195G>A		CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.536C>T	16.37:g.10788195G>A	ENSP00000283025:p.Ala179Val						p.A179V	NM_144674	NP_653275	Q96M29	TEKT5_HUMAN			0	608	-			179					A1L3Z3	Missense_Mutation	SNP	ENST00000283025.2	37	c.536C>T	CCDS10542.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012630	0.54468	0.0	1.16E-4	ENSG00000153060	ENST00000283025	T	0.03386	3.95	5.63	4.62	0.57501	.	0.201088	0.34879	N	0.003607	T	0.17450	0.0419	M	0.80422	2.495	0.58432	D	0.999999	D	0.67145	0.996	D	0.66497	0.944	T	0.00104	-1.2058	10	0.62326	D	0.03	-25.0158	14.7687	0.69659	0.0:0.1451:0.8549:0.0	.	179	Q96M29	TEKT5_HUMAN	V	179	ENSP00000283025:A179V	ENSP00000283025:A179V	A	-	2	0	TEKT5	10695696	1.000000	0.71417	0.357000	0.25798	0.006000	0.05464	4.926000	0.63433	2.640000	0.89533	0.650000	0.86243	GCG		0.577	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674	
ITGAM	3684	broad.mit.edu	37	16	31286944	31286944	+	Silent	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr16:31286944C>T	ENST00000287497.8	+	9	1008	c.933C>T	c.(931-933)caC>caT	p.H311H	ITGAM_ENST00000544665.3_Silent_p.H311H			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	311	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CTCGTGATCACGTGTTCCAGG	0.512																																						uc002ebr.3																			0				endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.(931-933)caC>caT		Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.							93.0	95.0	95.0					16																	31286944		2034	4208	6242	SO:0001819	synonymous_variant	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31286944C>T	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.933C>T	16.37:g.31286944C>T						ITGAM_uc002ebq.3_Silent_p.H311H|ITGAM_uc010cam.1_5'UTR	p.H311H	NM_001145808	NP_001139280	P11215	ITAM_HUMAN			8	1031	+			311			VWFA.		Q4VAK0|Q4VAK1|Q4VAK2	Silent	SNP	ENST00000287497.8	37	c.933C>T	CCDS45470.1																																																																																				0.512	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632	
CNGB1	1258	broad.mit.edu	37	16	57992360	57992360	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr16:57992360T>C	ENST00000251102.8	-	11	851	c.791A>G	c.(790-792)gAg>gGg	p.E264G	CNGB1_ENST00000564448.1_Missense_Mutation_p.E258G|CNGB1_ENST00000311183.4_Missense_Mutation_p.E264G	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	264					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CAAGGCCATCTCCAGCCTGTG	0.622																																					Colon(156;1293 1853 16336 28962 38659)	uc002emt.2																			0				breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						c.(790-792)gAg>gGg		Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.							67.0	82.0	77.0					16																	57992360		2140	4250	6390	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57992360T>C	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.791A>G	16.37:g.57992360T>C	ENSP00000251102:p.Glu264Gly					CNGB1_uc010cdh.2_Missense_Mutation_p.E258G|CNGB1_uc002emu.2_Missense_Mutation_p.E264G	p.E264G	NM_001297	NP_001288	Q14028	CNGB1_HUMAN			10	856	-			264					H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.791A>G	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	T	18.47	3.631145	0.67015	.	.	ENSG00000070729	ENST00000251102;ENST00000311183	D;T	0.98585	-5.01;0.25	4.14	4.14	0.48551	.	0.186469	0.26130	N	0.026173	D	0.98058	0.9360	L	0.55990	1.75	0.24087	N	0.99593	D;D	0.76494	0.999;0.983	D;P	0.69479	0.964;0.537	D	0.93735	0.7045	10	0.87932	D	0	.	9.8442	0.41017	0.0:0.0:0.0:1.0	.	264;264	Q14028-3;Q14028	.;CNGB1_HUMAN	G	264	ENSP00000251102:E264G;ENSP00000311670:E264G	ENSP00000251102:E264G	E	-	2	0	CNGB1	56549861	1.000000	0.71417	0.995000	0.50966	0.672000	0.39443	3.087000	0.50167	2.091000	0.63221	0.533000	0.62120	GAG		0.622	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297	
CTDNEP1	23399	broad.mit.edu	37	17	7154554	7154554	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr17:7154554C>T	ENST00000573600.1	-	2	483	c.62G>A	c.(61-63)tGg>tAg	p.W21*	ELP5_ENST00000396628.2_5'Flank|ELP5_ENST00000574993.1_5'Flank|ELP5_ENST00000356683.2_5'Flank|ELP5_ENST00000354429.2_5'Flank|CTDNEP1_ENST00000574322.1_Nonsense_Mutation_p.W21*|ELP5_ENST00000573657.1_5'Flank|ELP5_ENST00000396627.2_5'Flank|CTDNEP1_ENST00000572043.1_Intron|ELP5_ENST00000574255.1_5'Flank|RP1-4G17.5_ENST00000577138.1_Intron|CTDNEP1_ENST00000318988.6_Nonsense_Mutation_p.W21*			O95476	CNEP1_HUMAN	CTD nuclear envelope phosphatase 1	21					gamete generation (GO:0007276)|mesoderm development (GO:0007498)|nuclear envelope organization (GO:0006998)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of triglyceride biosynthetic process (GO:0010867)|protein dephosphorylation (GO:0006470)|protein localization to nucleus (GO:0034504)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|Nem1-Spo7 phosphatase complex (GO:0071595)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(9)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	15						GAAGAAGCTCCAGAGCTTGGC	0.692																																						uc002gfd.2																			0				central_nervous_system(9)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(61-63)tGg>tAg		Homo sapiens CTD nuclear envelope phosphatase 1 (CTDNEP1), transcript variant 2, mRNA.							24.0	27.0	26.0					17																	7154554		2202	4298	6500	SO:0001587	stop_gained	23399				nuclear envelope organization|protein dephosphorylation	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein serine/threonine phosphatase activity	g.chr17:7154554C>T	AJ011916	CCDS11093.1	17p13	2012-11-27	2010-10-27	2010-10-27	ENSG00000175826	ENSG00000175826		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	19085	protein-coding gene	gene with protein product	"""C-terminal domain nuclear envelope phosphatase 1"""	610684	"""dullard homolog (Xenopus laevis)"""	DULLARD		12083771, 17141153	Standard	NM_015343		Approved	HSA011916, NET56	uc002gfd.2	O95476	OTTHUMG00000102180	ENST00000573600.1:c.62G>A	17.37:g.7154554C>T	ENSP00000461749:p.Trp21*					CTDNEP1_uc002gfe.2_Nonsense_Mutation_p.W21*|C17orf81_uc002gfg.1_5'Flank|C17orf81_uc010cmb.3_5'Flank|C17orf81_uc002gfh.1_5'Flank|C17orf81_uc002gfi.1_5'Flank|C17orf81_uc002gfj.3_5'Flank|C17orf81_uc002gfk.1_5'Flank|C17orf81_uc021toz.1_5'Flank	p.W21*	NM_001143775	NP_056158	O95476	CNEP1_HUMAN			0	442	-			21					D3DTN7|Q96GQ9	Nonsense_Mutation	SNP	ENST00000573600.1	37	c.62G>A	CCDS11093.1	.	.	.	.	.	.	.	.	.	.	C	35	5.519716	0.96416	.	.	ENSG00000175826	ENST00000318988	.	.	.	5.41	4.44	0.53790	.	0.151779	0.47852	D	0.000209	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.3874	11.1681	0.48556	0.0:0.9118:0.0:0.0882	.	.	.	.	X	21	.	ENSP00000321732:W21X	W	-	2	0	CTDNEP1	7095278	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.825000	0.48096	2.549000	0.85964	0.650000	0.86243	TGG		0.692	CTDNEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440215.1	NM_015343	
TP53	7157	broad.mit.edu	37	17	7577568	7577568	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr17:7577568C>A	ENST00000269305.4	-	7	902	c.713G>T	c.(712-714)tGt>tTt	p.C238F	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.C238F|TP53_ENST00000455263.2_Missense_Mutation_p.C238F|TP53_ENST00000359597.4_Missense_Mutation_p.C238F|TP53_ENST00000413465.2_Missense_Mutation_p.C238F|TP53_ENST00000445888.2_Missense_Mutation_p.C238F	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	238	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(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)	GGAACTGTTACACATGTAGTT	0.572		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)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		158	Substitution - Missense(131)|Deletion - In frame(10)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(4)	p.C238Y(122)|p.M237I(109)|p.C238F(82)|p.C238S(28)|p.C238R(14)|p.M237K(9)|p.0?(8)|p.M237_N239delMCN(6)|p.M237V(6)|p.?(5)|p.C145Y(5)|p.C145F(5)|p.C238*(4)|p.M237fs*10(4)|p.C238del(3)|p.M237R(3)|p.M237L(3)|p.Y236_M243delYMCNSSCM(2)|p.C238_M246delCNSSCMGGM(2)|p.C238W(2)|p.C238fs*21(2)|p.C238G(2)|p.M237fs*1(2)|p.H233_C242del10(2)|p.M237T(2)|p.C238_N239insX(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.C238fs*9(1)|p.Y236_M237>*L(1)|p.M144_N146delMCN(1)|p.C238C(1)|p.Y236_M237delYM(1)|p.C145S(1)|p.H233fs*6(1)|p.Y236_M237insXX(1)|p.N239_C242del(1)|p.M237_C238insX(1)	breast(22)|ovary(17)|large_intestine(14)|haematopoietic_and_lymphoid_tissue(13)|endometrium(13)|lung(12)|upper_aerodigestive_tract(9)|pancreas(8)|soft_tissue(7)|urinary_tract(7)|oesophagus(7)|biliary_tract(6)|central_nervous_system(6)|liver(5)|bone(5)|stomach(4)|skin(2)|meninges(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	CM034930	TP53	M		c.(712-714)tGt>tTt	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							132.0	103.0	113.0					17																	7577568		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.chr17:7577568C>A	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.713G>T	17.37:g.7577568C>A	ENSP00000269305:p.Cys238Phe	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_uc002gig.1_Missense_Mutation_p.C238F|TP53_uc002gih.3_Missense_Mutation_p.C238F|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C106F|TP53_uc010cnf.1_Missense_Mutation_p.C106F|TP53_uc002gii.1_Missense_Mutation_p.C106F|TP53_uc010cni.1_Missense_Mutation_p.C238F|TP53_uc010cnh.1_Missense_Mutation_p.C238F|TP53_uc002gij.2_Missense_Mutation_p.C238F|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.C145F|TP53_uc002gio.2_Missense_Mutation_p.C106F|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank	p.C238F	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	907	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	238		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.713G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262614	0.80358	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99964	-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96	4.09	4.09	0.47781	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	0.99972	0.9991	M	0.92970	3.365	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.95847	0.8871	10	0.87932	D	0	-18.536	14.6088	0.68501	0.0:1.0:0.0:0.0	.	238;238;145;238;238;238	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	F	238;238;238;238;238;238;227;145;106;145	ENSP00000410739:C238F;ENSP00000352610:C238F;ENSP00000269305:C238F;ENSP00000398846:C238F;ENSP00000391127:C238F;ENSP00000391478:C238F;ENSP00000425104:C106F;ENSP00000423862:C145F	ENSP00000269305:C238F	C	-	2	0	TP53	7518293	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.556000	0.82233	2.564000	0.86499	0.462000	0.41574	TGT		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
NAA38	84316	broad.mit.edu	37	17	7760481	7760503	+	Frame_Shift_Del	DEL	CTCAGCCGCCGAGTCCTCGCGCT	CTCAGCCGCCGAGTCCTCGCGCT	-			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr17:7760481_7760503delCTCAGCCGCCGAGTCCTCGCGCT	ENST00000335155.5	-	2	94_116	c.95_117delAGCGCGAGGACTCGGCGGCTGAG	c.(94-117)gagcgcgaggactcggcggctgagfs	p.EREDSAAE32fs	LSMD1_ENST00000576384.1_5'UTR|LSMD1_ENST00000575208.1_De_novo_Start_OutOfFrame|LSMD1_ENST00000333775.5_Frame_Shift_Del_p.EREDSAAE80fs|CYB5D1_ENST00000570446.1_5'Flank|LSMD1_ENST00000570555.1_5'Flank|CYB5D1_ENST00000571846.1_5'Flank|CYB5D1_ENST00000332439.4_5'Flank|LSMD1_ENST00000575071.1_5'UTR|LSMD1_ENST00000576861.1_Frame_Shift_Del_p.EREDSAAE6fs|LSMD1_ENST00000575771.1_5'UTR			Q9BRA0	LSMD1_HUMAN		32					negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)|nucleus (GO:0005634)				endometrium(1)|lung(2)|ovary(1)	4		all_cancers(10;0.11)|Prostate(122;0.219)				GTCGGGCGCGCTCAGCCGCCGAGTCCTCGCGCTCTCCGTCCGA	0.682											OREG0024146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(66;626 1401 29924 42527)	uc002gja.3																			0				endometrium(1)|lung(2)|ovary(1)	4						c.(238-261)gagcgcgaggactcggcggctgagfs		Homo sapiens LSM domain containing 1 (LSMD1), mRNA.																																				SO:0001589	frameshift_variant	84316					cytoplasm|nucleus		g.chr17:7760481_7760503delCTCAGCCGCCGAGTCCTCGCGCT																												ENST00000335155.5:c.95_117delAGCGCGAGGACTCGGCGGCTGAG	17.37:g.7760481_7760503delCTCAGCCGCCGAGTCCTCGCGCT	ENSP00000335611:p.Glu32fs		OREG0024146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	644	LSMD1_uc002giz.3_Frame_Shift_Del_p.E32fs|CYB5D1_uc002gjb.4_5'Flank|CYB5D1_uc021tpi.1_5'Flank	p.E80fs	NM_032356	NP_115732	Q9BRA0	LSMD1_HUMAN			0	670_692	-		all_cancers(10;0.11)|Prostate(122;0.219)	32					Q8N4M0	Frame_Shift_Del	DEL	ENST00000335155.5	37	c.239_261delAGCGCGAGGACTCGGCGGCTGAG																																																																																					0.682	LSMD1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			
PER1	5187	broad.mit.edu	37	17	8048179	8048179	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr17:8048179G>A	ENST00000317276.4	-	18	2588	c.2351C>T	c.(2350-2352)tCc>tTc	p.S784F	PER1_ENST00000578089.1_Intron|PER1_ENST00000581082.1_Missense_Mutation_p.S764F|PER1_ENST00000354903.5_Missense_Mutation_p.S768F	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	784	Required for phosphorylation by CSNK1E. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGTGTGCAGGGACAGCACGGC	0.682			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																														uc002gkd.3				Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		"""AML, CMML"""		0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2350-2352)tCc>tTc	Other conserved DNA damage response genes	Homo sapiens period homolog 1 (Drosophila) (PER1), mRNA.							40.0	29.0	32.0					17																	8048179		2203	4299	6502	SO:0001583	missense	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8048179G>A	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.2351C>T	17.37:g.8048179G>A	ENSP00000314420:p.Ser784Phe					PER1_uc010cns.3_5'Flank|PER1_uc010vuq.2_Non-coding_Transcript|PER1_uc010vur.1_Missense_Mutation_p.S768F	p.S784F	NM_002616	NP_002607	O15534	PER1_HUMAN			17	2589	-			784			CSNK1E binding domain (By similarity).		B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	c.2351C>T	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.620176	0.87460	.	.	ENSG00000179094	ENST00000317276;ENST00000354903	T;T	0.55234	2.01;0.53	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.75206	0.3818	M	0.82517	2.595	0.54753	D	0.999984	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.942	T	0.79117	-0.1935	10	0.87932	D	0	-25.6112	16.6273	0.84975	0.0:0.0:1.0:0.0	.	768;784	B4DI49;O15534	.;PER1_HUMAN	F	784;768	ENSP00000314420:S784F;ENSP00000346979:S768F	ENSP00000314420:S784F	S	-	2	0	PER1	7988904	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.319000	0.79040	2.537000	0.85549	0.655000	0.94253	TCC		0.682	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2		
LLGL1	3996	broad.mit.edu	37	17	18135847	18135847	+	Missense_Mutation	SNP	G	G	A	rs369006714		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr17:18135847G>A	ENST00000316843.4	+	3	314	c.218G>A	c.(217-219)cGg>cAg	p.R73Q		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	73					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GGCCTGCACCGGGATGCAGCC	0.587																																						uc002gsp.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(217-219)cGg>cAg		Homo sapiens lethal giant larvae homolog 1 (Drosophila) (LLGL1), mRNA.		G	GLN/ARG	2,4402	4.2+/-10.8	0,2,2200	75.0	62.0	67.0		218	1.1	0.0	17		67	0,8600		0,0,4300	no	missense	LLGL1	NM_004140.3	43	0,2,6500	AA,AG,GG		0.0,0.0454,0.0154	benign	73/1065	18135847	2,13002	2202	4300	6502	SO:0001583	missense	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18135847G>A		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.218G>A	17.37:g.18135847G>A	ENSP00000321537:p.Arg73Gln						p.R73Q	NM_004140	NP_004131	Q15334	L2GL1_HUMAN			2	279	+	all_neural(463;0.228)		73					A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	ENST00000316843.4	37	c.218G>A	CCDS32586.1	.	.	.	.	.	.	.	.	.	.	G	8.150	0.787156	0.16189	4.54E-4	0.0	ENSG00000131899	ENST00000316843	D	0.95821	-3.82	5.78	1.08	0.20341	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.404782	0.27544	N	0.018893	D	0.85274	0.5659	N	0.12746	0.255	0.20489	N	0.999896	B	0.31009	0.303	B	0.19148	0.024	T	0.76553	-0.2917	10	0.36615	T	0.2	-1.1232	4.6337	0.12514	0.5918:0.1856:0.2226:0.0	.	73	Q15334	L2GL1_HUMAN	Q	73	ENSP00000321537:R73Q	ENSP00000321537:R73Q	R	+	2	0	LLGL1	18076572	0.006000	0.16342	0.042000	0.18584	0.505000	0.33919	2.217000	0.42880	0.069000	0.16605	-0.225000	0.12378	CGG		0.587	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3		
MBTD1	54799	broad.mit.edu	37	17	49270165	49270165	+	Silent	SNP	T	T	C			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr17:49270165T>C	ENST00000586178.1	-	15	2011	c.1668A>G	c.(1666-1668)caA>caG	p.Q556Q	MBTD1_ENST00000376381.2_3'UTR|MBTD1_ENST00000415868.1_Silent_p.Q556Q	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	556					chromatin modification (GO:0016568)|embryonic skeletal system development (GO:0048706)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.Q392Q(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			GAGGCTGTAGTTGATATCCAG	0.423																																						uc002itr.4																			2	Substitution - coding silent(2)	p.Q392Q(2)	ovary(1)|skin(1)	breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12						c.(1666-1668)caA>caG		Homo sapiens mbt domain containing 1 (MBTD1), mRNA.							162.0	150.0	154.0					17																	49270165		2203	4300	6503	SO:0001819	synonymous_variant	54799				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr17:49270165T>C	AK000062	CCDS11581.2	17q24.1	2003-01-15			ENSG00000011258	ENSG00000011258			19866	protein-coding gene	gene with protein product							Standard	NM_017643		Approved	SA49P01, FLJ20055	uc002itr.4	Q05BQ5	OTTHUMG00000150442	ENST00000586178.1:c.1668A>G	17.37:g.49270165T>C						MBTD1_uc002itp.4_Silent_p.Q392Q|MBTD1_uc002itq.4_3'UTR	p.Q556Q	NM_017643	NP_060113	Q05BQ5	MBTD1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		14	2012	-			556					Q6ZVU7|Q9NXU1	Silent	SNP	ENST00000586178.1	37	c.1668A>G	CCDS11581.2																																																																																				0.423	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318124.1		
BRIP1	83990	broad.mit.edu	37	17	59761146	59761147	+	Frame_Shift_Ins	INS	-	-	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr17:59761146_59761147insT	ENST00000259008.2	-	20	3527_3528	c.3260_3261insA	c.(3259-3261)aatfs	p.N1087fs		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1087					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						GTTCAGAATGATTTTTTCTAGT	0.376			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																														uc002izk.2			yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	"""F, N, Mis"""	BRCA1 interacting protein C-terminal helicase 1			"""L, E"""		"""AML, leukemia, breast"""			0				NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						c.(3259-3261)aatfs	Involved in tolerance or repair of DNA crosslinks	Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA.																																				SO:0001589	frameshift_variant	83990				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59761146_59761147insT	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.3261dupA	17.37:g.59761152_59761152dupT	ENSP00000259008:p.Asn1087fs						p.N1087fs	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN			19	3566_3567	-			1087					Q3MJE2|Q8NCI5	Frame_Shift_Ins	INS	ENST00000259008.2	37	c.3260_3261insA	CCDS11631.1																																																																																				0.376	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043	
ZBTB7C	201501	broad.mit.edu	37	18	45566526	45566526	+	Missense_Mutation	SNP	G	G	A	rs371251738		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr18:45566526G>A	ENST00000588982.1	-	3	1454	c.953C>T	c.(952-954)cCg>cTg	p.P318L	ZBTB7C_ENST00000586438.1_Missense_Mutation_p.P318L|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.P318L|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.P318L|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.P318L			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	318	Pro-rich.						metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.P318L(1)		endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						AGGCCCCCCCGGCAGGTCAGG	0.617																																						uc010dnv.3																			1	Substitution - Missense(1)	p.P318L(1)	large_intestine(1)	endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(1018-1020)cCg>cTg		Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.		G	LEU/PRO	0,4406		0,0,2203	48.0	53.0	51.0		953	5.3	0.7	18		51	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZBTB7C	NM_001039360.2	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	318/620	45566526	1,13005	2203	4300	6503	SO:0001583	missense	201501					intracellular	nucleic acid binding|zinc ion binding	g.chr18:45566526G>A	Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31700	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 36"""	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.953C>T	18.37:g.45566526G>A	ENSP00000468782:p.Pro318Leu					ZBTB7C_uc002ldb.3_Missense_Mutation_p.P318L|ZBTB7C_uc010dnu.3_Missense_Mutation_p.P327L|ZBTB7C_uc010dnw.3_Missense_Mutation_p.P318L|ZBTB7C_uc010dnx.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dny.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dnz.1_Missense_Mutation_p.P340L|ZBTB7C_uc010doi.1_Missense_Mutation_p.P318L|ZBTB7C_uc010doj.1_Missense_Mutation_p.P327L|ZBTB7C_uc010dok.1_Missense_Mutation_p.P367L|ZBTB7C_uc010dol.1_Missense_Mutation_p.P327L|ZBTB7C_uc010doa.1_Missense_Mutation_p.P340L|ZBTB7C_uc010dob.1_Missense_Mutation_p.P318L|ZBTB7C_uc010doc.1_Missense_Mutation_p.P327L|ZBTB7C_uc010dod.1_Missense_Mutation_p.P340L|ZBTB7C_uc010doe.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dof.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dog.1_Missense_Mutation_p.P318L|ZBTB7C_uc010doh.1_Missense_Mutation_p.P327L|ZBTB7C_uc010dom.1_Missense_Mutation_p.P327L|ZBTB7C_uc010don.1_Missense_Mutation_p.P326L|ZBTB7C_uc010dop.1_Missense_Mutation_p.P318L|ZBTB7C_uc010doq.1_Missense_Mutation_p.P327L|ZBTB7C_uc010dor.1_Missense_Mutation_p.P340L|ZBTB7C_uc010dos.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dot.1_Missense_Mutation_p.P318L|ZBTB7C_uc010doo.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dou.1_Missense_Mutation_p.P327L	p.P340L	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN			2	1455	-			318					O73453	Missense_Mutation	SNP	ENST00000588982.1	37	c.1019C>T	CCDS32830.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.576716	0.28092	0.0	1.16E-4	ENSG00000184828	ENST00000535628;ENST00000332053	T;T	0.13307	2.6;2.6	5.34	5.34	0.76211	.	0.467476	0.24752	N	0.035894	T	0.11067	0.0270	N	0.19112	0.55	0.53005	D	0.999968	P;P	0.49253	0.921;0.867	B;B	0.38880	0.284;0.284	T	0.07829	-1.0752	10	0.48119	T	0.1	.	19.0131	0.92882	0.0:0.0:1.0:0.0	.	318;318	B2RG49;A1YPR0	.;ZBT7C_HUMAN	L	318	ENSP00000439781:P318L;ENSP00000328732:P318L	ENSP00000328732:P318L	P	-	2	0	ZBTB7C	43820524	1.000000	0.71417	0.706000	0.30403	0.320000	0.28249	9.827000	0.99397	2.491000	0.84063	0.561000	0.74099	CCG		0.617	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450731.1	NM_001039360	
C3	718	broad.mit.edu	37	19	6680198	6680198	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr19:6680198G>T	ENST00000245907.6	-	36	4519	c.4427C>A	c.(4426-4428)gCa>gAa	p.A1476E	C3_ENST00000599668.1_5'Flank	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1476					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GACCTTGACTGCTCCAGGCTG	0.512																																						uc002mfm.3																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(4426-4428)gCa>gAa		Homo sapiens complement component 3 (C3), mRNA.							109.0	103.0	105.0					19																	6680198		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6680198G>T	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.4427C>A	19.37:g.6680198G>T	ENSP00000245907:p.Ala1476Glu						p.A1476E	NM_000064	NP_000055	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	35	4489	-			1476					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.4427C>A	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.651759	0.29336	.	.	ENSG00000125730	ENST00000245907	T	0.22945	1.93	4.97	2.81	0.32909	Alpha-macroglobulin, receptor-binding (3);	0.792906	0.11516	N	0.556228	T	0.42743	0.1216	M	0.73372	2.23	0.09310	N	1	D	0.54047	0.964	P	0.60345	0.873	T	0.21177	-1.0253	10	0.25751	T	0.34	.	9.418	0.38534	0.0807:0.1449:0.7744:0.0	.	1476	P01024	CO3_HUMAN	E	1476	ENSP00000245907:A1476E	ENSP00000245907:A1476E	A	-	2	0	C3	6631198	0.022000	0.18835	0.001000	0.08648	0.132000	0.20833	2.119000	0.41958	0.514000	0.28300	-0.291000	0.09656	GCA		0.512	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064	
KANK3	256949	broad.mit.edu	37	19	8389585	8389585	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr19:8389585C>T	ENST00000593649.1	-	9	2277	c.2212G>A	c.(2212-2214)Gag>Aag	p.E738K	KANK3_ENST00000330915.3_Missense_Mutation_p.E738K			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	738										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						CGCCCATACTCACTGGCACAC	0.627																																						uc010dwa.3																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						c.(2212-2214)Gag>Aag		Homo sapiens KN motif and ankyrin repeat domains 3 (KANK3), mRNA.							63.0	53.0	56.0					19																	8389585		2203	4300	6503	SO:0001583	missense	256949							g.chr19:8389585C>T	AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	24796	protein-coding gene	gene with protein product		614611	"""ankyrin repeat domain 47"""	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.2212G>A	19.37:g.8389585C>T	ENSP00000470728:p.Glu738Lys						p.E738K	NM_198471	NP_940873	Q6NY19	KANK3_HUMAN			8	2278	-			738					Q6NZI1|Q6ZQR3|Q8IUV2	Missense_Mutation	SNP	ENST00000593649.1	37	c.2212G>A		.	.	.	.	.	.	.	.	.	.	C	23.1	4.371173	0.82573	.	.	ENSG00000186994	ENST00000330915	T	0.65178	-0.14	4.78	4.78	0.61160	.	.	.	.	.	T	0.61375	0.2342	N	0.04203	-0.255	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71978	-0.4429	9	0.62326	D	0.03	-26.0733	16.5355	0.84372	0.0:1.0:0.0:0.0	.	738	Q6NY19-2	.	K	738	ENSP00000328923:E738K	ENSP00000328923:E738K	E	-	1	0	KANK3	8295585	1.000000	0.71417	0.955000	0.39395	0.320000	0.28249	5.805000	0.69143	2.474000	0.83562	0.561000	0.74099	GAG		0.627	KANK3-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000461379.1	NM_198471	
ZNF626	199777	broad.mit.edu	37	19	20807460	20807460	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr19:20807460T>C	ENST00000601440.1	-	4	1369	c.1223A>G	c.(1222-1224)tAc>tGc	p.Y408C	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	408					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y408C(1)		breast(1)|endometrium(1)|lung(3)|skin(1)	6						GTTAGAGGAGTACTTAAAAGC	0.408																																						uc002npb.1																			1	Substitution - Missense(1)	p.Y408C(1)	lung(1)	breast(1)|endometrium(1)|lung(3)|skin(1)	6						c.(1222-1224)tAc>tGc		Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.							59.0	62.0	61.0					19																	20807460		2156	4279	6435	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20807460T>C	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1223A>G	19.37:g.20807460T>C	ENSP00000469958:p.Tyr408Cys					ZNF626_uc002npc.1_Missense_Mutation_p.Y332C	p.Y408C	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN			3	1373	-			408					Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.1223A>G	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	0.009	-1.833357	0.00579	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.898	0.898	0.19264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28067	0.0692	L	0.31845	0.965	0.20074	N	0.999937	B	0.06786	0.001	B	0.15052	0.012	T	0.20739	-1.0266	8	0.34782	T	0.22	.	5.5612	0.17144	0.0:0.0:0.0:1.0	.	408	Q68DY1	ZN626_HUMAN	C	408;332;408	.	ENSP00000445201:Y408C	Y	-	2	0	ZNF626	20599300	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-5.822000	0.00096	0.243000	0.21327	0.240000	0.17902	TAC		0.408	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297	
ZNF257	113835	broad.mit.edu	37	19	22270778	22270778	+	Splice_Site	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr19:22270778G>A	ENST00000594947.1	+	4	370		c.e4-1		ZNF257_ENST00000600162.1_Splice_Site	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATTTCTTTTAGTTATGTGTTC	0.294																																						uc010ecx.3																			0				haematopoietic_and_lymphoid_tissue(2)|lung(4)	6						c.e4-1		Homo sapiens zinc finger protein 257 (ZNF257), mRNA.							37.0	38.0	38.0					19																	22270778		1885	4131	6016	SO:0001630	splice_region_variant	113835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22270778G>A	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.227-1G>A	19.37:g.22270778G>A						ZNF257_uc010ecy.3_Splice_Site_p.V44_splice	p.V76_splice	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN			4	396	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	76					B3KPS4|E9PG34|Q8NE34	Splice_Site	SNP	ENST00000594947.1	37	c.227_splice	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	G	1.300	-0.605219	0.03717	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.06	-0.866	0.10659	.	.	.	.	.	.	.	.	.	.	.	0.19775	N	0.999957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.6415	0.04972	0.0:0.3067:0.3861:0.3072	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF257	22062618	0.027000	0.19231	0.016000	0.15963	0.061000	0.15899	0.634000	0.24614	0.506000	0.28125	0.298000	0.19748	.		0.294	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1		Intron
ZNF302	55900	broad.mit.edu	37	19	35175737	35175737	+	Silent	SNP	C	C	G			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr19:35175737C>G	ENST00000446502.2	+	6	1135	c.927C>G	c.(925-927)gcC>gcG	p.A309A	ZNF302_ENST00000505242.1_Silent_p.A265A|ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000423823.2_Silent_p.A265A|ZNF302_ENST00000457781.2_Silent_p.A265A			Q9NR11	ZN302_HUMAN	zinc finger protein 302	344					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GTGGGAAGGCCTTTAGCCATG	0.448																																						uc002nvr.1																			0		p.Q309Q(1)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(925-927)gcC>gcG		Homo sapiens zinc finger protein 302 (ZNF302), transcript variant 1, mRNA.							97.0	95.0	96.0					19																	35175737		2203	4300	6503	SO:0001819	synonymous_variant	55900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35175737C>G	AF155656	CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1	19q13.2	2013-01-08			ENSG00000089335	ENSG00000089335		"""Zinc fingers, C2H2-type"", ""-"""	13848	protein-coding gene	gene with protein product							Standard	NM_018675		Approved	ZNF327, ZNF135L, ZNF140L	uc002nvq.1	Q9NR11	OTTHUMG00000163329	ENST00000446502.2:c.927C>G	19.37:g.35175737C>G						ZNF302_uc002nvp.1_Silent_p.A265A|ZNF302_uc002nvq.1_Silent_p.A265A|ZNF302_uc002nvs.1_Silent_p.A265A	p.A309A	NM_018443	NP_060913	Q9NR11	ZN302_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		5	1190	+	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		344					Q658J3|Q9BZD8|Q9P0J4	Silent	SNP	ENST00000446502.2	37	c.927C>G																																																																																					0.448	ZNF302-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372731.1		
CGB8	94115	broad.mit.edu	37	19	49551985	49551985	+	Silent	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr19:49551985G>A	ENST00000448456.3	-	1	378	c.12C>T	c.(10-12)ttC>ttT	p.F4F	CGB8_ENST00000355414.2_Silent_p.F2F|CGB1_ENST00000391869.3_Silent_p.F2F	NM_033183.2	NP_149439.1	P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide 8	4			F -> L (in dbSNP:rs6516). {ECO:0000269|PubMed:15489334}.		apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|female gamete generation (GO:0007292)|peptide hormone processing (GO:0016486)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			pancreas(1)	1		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GTCTTACCTGGAACATCTCCA	0.602																																						uc002pmb.4																			0				pancreas(1)	1						c.(10-12)ttC>ttT		Homo sapiens chorionic gonadotropin, beta polypeptide 8 (CGB8), mRNA.	Choriogonadotropin alfa(DB00097)						259.0	231.0	240.0					19																	49551985		2203	4300	6503	SO:0001819	synonymous_variant	94115				apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr19:49551985G>A	BG435249	CCDS12753.1	19q13.32	2011-05-26							16453	protein-coding gene	gene with protein product		608827				6194155	Standard	NM_033183		Approved		uc002pmb.4	P01233		ENST00000448456.3:c.12C>T	19.37:g.49551985G>A						CGB8_uc002pmc.3_Intron	p.F4F	NM_033183	NP_149439	P01233	CGHB_HUMAN		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	0	384	-		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	4		F -> L (in dbSNP:rs6516).			A1A5E0|B9ZVP5|Q13991|Q14000|Q3KPI3|Q3SY41|Q8WTT5|Q8WXL1|Q8WXL2|Q8WXL3|Q8WXL4	Silent	SNP	ENST00000448456.3	37	c.12C>T	CCDS12753.1																																																																																				0.602	CGB8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452168.1	NM_033183	
C19orf18	147685	broad.mit.edu	37	19	58485726	58485726	+	Silent	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr19:58485726C>T	ENST00000314391.3	-	1	176	c.75G>A	c.(73-75)ccG>ccA	p.P25P		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	25						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		CATCTGCATACGGCAAGCATA	0.393																																						uc002qqv.3																			0				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8						c.(73-75)ccG>ccA		Homo sapiens chromosome 19 open reading frame 18 (C19orf18), mRNA.							128.0	122.0	124.0					19																	58485726		2203	4300	6503	SO:0001819	synonymous_variant	147685					integral to membrane		g.chr19:58485726C>T	BC033933	CCDS12967.1	19q13.43	2013-03-11			ENSG00000177025	ENSG00000177025			28642	protein-coding gene	gene with protein product						12477932	Standard	NM_152474		Approved	MGC41906	uc002qqv.3	Q8NEA5	OTTHUMG00000183450	ENST00000314391.3:c.75G>A	19.37:g.58485726C>T							p.P25P	NM_152474	NP_689687	Q8NEA5	CS018_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)	0	177	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	25						Silent	SNP	ENST00000314391.3	37	c.75G>A	CCDS12967.1																																																																																				0.393	C19orf18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466704.1	NM_152474	
FBLN7	129804	broad.mit.edu	37	2	112944813	112944813	+	Silent	SNP	G	G	A	rs140504449		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr2:112944813G>A	ENST00000331203.2	+	8	1321	c.1050G>A	c.(1048-1050)acG>acA	p.T350T	FBLN7_ENST00000409450.3_Silent_p.T304T|FBLN7_ENST00000409903.1_Intron|FBLN7_ENST00000409667.3_Silent_p.T216T	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	350					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						ACCTGAAGACGCCCATCACGC	0.652																																						uc002tho.1																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1048-1050)acG>acA		Homo sapiens fibulin 7 (FBLN7), transcript variant 1, mRNA.		G	,	0,4406		0,0,2203	93.0	94.0	94.0		912,1050	-10.6	0.3	2	dbSNP_134	94	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	FBLN7	NM_001128165.1,NM_153214.2	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	304/394,350/440	112944813	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	129804				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding	g.chr2:112944813G>A		CCDS2095.1, CCDS46391.1	2q13	2010-06-15			ENSG00000144152	ENSG00000144152		"""Fibulins"""	26740	protein-coding gene	gene with protein product		611551				17699513	Standard	NM_153214		Approved	FLJ37440, TM14	uc002tho.1	Q53RD9	OTTHUMG00000153267	ENST00000331203.2:c.1050G>A	2.37:g.112944813G>A						FBLN7_uc010fki.1_Silent_p.T304T|FBLN7_uc010fkj.1_Silent_p.T216T	p.T350T	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN			7	1321	+			350					A0JNV1|A0JNV2|Q5H9P5|Q8N9G0	Silent	SNP	ENST00000331203.2	37	c.1050G>A	CCDS2095.1																																																																																				0.652	FBLN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330505.1	NM_153214	
XIRP2	129446	broad.mit.edu	37	2	168103045	168103045	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr2:168103045C>T	ENST00000409195.1	+	9	5232	c.5143C>T	c.(5143-5145)Cgt>Tgt	p.R1715C	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R1493C|XIRP2_ENST00000295237.9_Missense_Mutation_p.R1715C|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1540					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGATGTCAAACGTACCATTCA	0.338																																						uc002udx.3																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(5143-5145)Cgt>Tgt		Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.							141.0	134.0	136.0					2																	168103045		1872	4100	5972	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168103045C>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.5143C>T	2.37:g.168103045C>T	ENSP00000386840:p.Arg1715Cys					XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.R1540C|XIRP2_uc010fpq.3_Missense_Mutation_p.R1493C|XIRP2_uc010fpr.3_Intron	p.R1715C	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	5232	+			1540					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.5143C>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.908041	0.33721	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03212	4.01;4.01;4.01	5.59	3.73	0.42828	.	0.219986	0.45867	D	0.000321	T	0.14270	0.0345	M	0.63428	1.95	0.53005	D	0.999968	D;D;D	0.89917	1.0;1.0;1.0	P;D;D	0.66196	0.877;0.942;0.916	T	0.00260	-1.1869	10	0.62326	D	0.03	-1.1939	15.0392	0.71774	0.0:0.7298:0.2702:0.0	.	1540;1540;1493	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	C	1715;1715;1493	ENSP00000386840:R1715C;ENSP00000295237:R1715C;ENSP00000387255:R1493C	ENSP00000295237:R1715C	R	+	1	0	XIRP2	167811291	0.037000	0.19845	0.109000	0.21407	0.589000	0.36550	1.120000	0.31271	0.674000	0.31244	-0.172000	0.13284	CGT		0.338	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
ABCB11	8647	broad.mit.edu	37	2	169814525	169814525	+	Silent	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr2:169814525C>T	ENST00000263817.6	-	19	2416	c.2292G>A	c.(2290-2292)gtG>gtA	p.V764V		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	764	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CTGTCCCGTTCACAGCTGCAC	0.473																																						uc002ueo.1																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57						c.(2290-2292)gtG>gtA		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						68.0	67.0	68.0					2																	169814525		1928	4132	6060	SO:0001819	synonymous_variant	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169814525C>T	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.2292G>A	2.37:g.169814525C>T						ABCB11_uc010zda.1_Silent_p.V206V|ABCB11_uc010zdb.1_Silent_p.V240V	p.V764V	NM_003742	NP_003733	O95342	ABCBB_HUMAN			18	2418	-			764			ABC transmembrane type-1 2.		Q53TL2|Q9UNB2	Silent	SNP	ENST00000263817.6	37	c.2292G>A	CCDS46444.1																																																																																				0.473	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742	
TRAK2	66008	broad.mit.edu	37	2	202272228	202272229	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr2:202272228_202272229delAG	ENST00000332624.3	-	3	611_612	c.183_184delCT	c.(181-186)ctctttfs	p.F62fs	TRAK2_ENST00000430254.1_Frame_Shift_Del_p.F62fs	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	62	HAP1 N-terminal.				protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						TCATATAGAAAGAGAGTGTCTA	0.46																																						uc002uyb.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						c.(181-186)ctctttfs		Homo sapiens trafficking protein, kinesin binding 2 (TRAK2), mRNA.																																				SO:0001589	frameshift_variant	66008					early endosome|plasma membrane	GABA receptor binding	g.chr2:202272228_202272229delAG	AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.183_184delCT	2.37:g.202272232_202272233delAG	ENSP00000328875:p.Phe62fs					TRAK2_uc002uyc.2_Frame_Shift_Del_p.L61fs	p.L61fs	NM_015049	NP_055864	O60296	TRAK2_HUMAN			2	629_630	-			61					E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Frame_Shift_Del	DEL	ENST00000332624.3	37	c.183_184delCT	CCDS2347.1																																																																																				0.460	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	NM_015049	
DES	1674	broad.mit.edu	37	2	220286194	220286194	+	Missense_Mutation	SNP	C	C	T	rs369765867		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr2:220286194C>T	ENST00000373960.3	+	6	1242	c.1156C>T	c.(1156-1158)Cgc>Tgc	p.R386C		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	386	Coil 2B.|Rod.				cytoskeleton organization (GO:0007010)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart contraction (GO:0008016)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		CCGCCATCTGCGCGAGTACCA	0.622																																						uc002vll.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18						c.(1156-1158)Cgc>Tgc		Homo sapiens desmin (DES), mRNA.		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	66.0	62.0	64.0		1156	5.1	1.0	2		64	0,8600		0,0,4300	no	missense	DES	NM_001927.3	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	386/471	220286194	1,13005	2203	4300	6503	SO:0001583	missense	1674				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton	g.chr2:220286194C>T	AF521879	CCDS33383.1	2q35	2014-09-17			ENSG00000175084	ENSG00000175084		"""Intermediate filaments type III"""	2770	protein-coding gene	gene with protein product	"""intermediate filament protein"""	125660				2673923, 9736733	Standard	NM_001927		Approved	CMD1I, CSM1, CSM2	uc002vll.3	P17661	OTTHUMG00000058924	ENST00000373960.3:c.1156C>T	2.37:g.220286194C>T	ENSP00000363071:p.Arg386Cys						p.R386C	NM_001927	NP_001918	P17661	DESM_HUMAN		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)	5	1242	+		Renal(207;0.0183)	386			Coil 2B.|Rod.		Q15787|Q549R7|Q549R8|Q549R9|Q8IZR1|Q8IZR6|Q8NES2|Q8NEU6|Q8TAC4|Q8TCX2|Q8TD99|Q9UHN5|Q9UJ80	Missense_Mutation	SNP	ENST00000373960.3	37	c.1156C>T	CCDS33383.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312880	0.81358	2.27E-4	0.0	ENSG00000175084	ENST00000373960	D	0.90004	-2.6	5.12	5.12	0.69794	Filament (1);	0.000000	0.49916	D	0.000131	D	0.95217	0.8449	M	0.87971	2.92	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	D	0.95733	0.8776	10	0.87932	D	0	.	18.3699	0.90403	0.0:1.0:0.0:0.0	.	386	P17661	DESM_HUMAN	C	386	ENSP00000363071:R386C	ENSP00000363071:R386C	R	+	1	0	DES	219994438	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.774000	0.62339	2.646000	0.89796	0.655000	0.94253	CGC		0.622	DES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130240.1	NM_001927	
RALGAPA2	57186	broad.mit.edu	37	20	20571899	20571899	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr20:20571899C>T	ENST00000202677.7	-	17	2270	c.2263G>A	c.(2263-2265)Gtg>Atg	p.V755M		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	755					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TGCTGTCCCACTGTGAGATGG	0.512																																						uc002wrz.3																			0				endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						c.(2263-2265)Gtg>Atg		Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.							65.0	72.0	70.0					20																	20571899		2061	4193	6254	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20571899C>T	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.2263G>A	20.37:g.20571899C>T	ENSP00000202677:p.Val755Met					RALGAPA2_uc002wry.3_Missense_Mutation_p.V370M|RALGAPA2_uc010zsg.2_Missense_Mutation_p.V203M	p.V755M	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN			16	2406	-			755					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.2263G>A	CCDS46584.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.245091	0.22796	.	.	ENSG00000188559	ENST00000202677	T	0.69926	-0.44	5.73	2.71	0.32032	.	2.443310	0.01433	N	0.014828	T	0.52289	0.1725	L	0.28115	0.83	0.09310	N	1	B;B	0.29805	0.004;0.257	B;B	0.22386	0.007;0.039	T	0.44112	-0.9349	10	0.46703	T	0.11	.	3.6275	0.08119	0.1352:0.5863:0.1311:0.1474	.	593;755	A8MSM5;Q2PPJ7	.;RGPA2_HUMAN	M	755	ENSP00000202677:V755M	ENSP00000202677:V755M	V	-	1	0	RALGAPA2	20519899	0.000000	0.05858	0.016000	0.15963	0.138000	0.21146	-0.014000	0.12656	0.765000	0.33221	-0.176000	0.13171	GTG		0.512	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343	
MYLK2	85366	broad.mit.edu	37	20	30409482	30409482	+	Silent	SNP	C	C	T	rs374323310		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr20:30409482C>T	ENST00000375994.2	+	3	987	c.714C>T	c.(712-714)tcC>tcT	p.S238S	MYLK2_ENST00000375985.4_Silent_p.S238S			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	238					cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CAGAGAAATCCGAGGTGGGGC	0.637																																						uc002wwq.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33						c.(712-714)tcC>tcT		Homo sapiens myosin light chain kinase 2 (MYLK2), mRNA.		C		1,4405	2.1+/-5.4	0,1,2202	85.0	95.0	92.0		714	0.2	0.7	20		92	0,8600		0,0,4300	no	coding-synonymous	MYLK2	NM_033118.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		238/597	30409482	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	85366				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr20:30409482C>T	AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"""skeletal muscle myosin light chain kinase"""	606566	"""myosin light chain kinase 2, skeletal muscle"""				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.714C>T	20.37:g.30409482C>T							p.S238S	NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		3	816	+			238					Q569L1|Q96I84	Silent	SNP	ENST00000375994.2	37	c.714C>T	CCDS13191.1																																																																																				0.637	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	NM_033118	
TTPAL	79183	broad.mit.edu	37	20	43115268	43115268	+	Silent	SNP	T	T	C			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr20:43115268T>C	ENST00000372904.3	+	5	815	c.672T>C	c.(670-672)caT>caC	p.H224H	TTPAL_ENST00000372906.2_Intron|TTPAL_ENST00000262605.4_Silent_p.H224H	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	224	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					intracellular (GO:0005622)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						AAGCAGTCCATGTGGTGAATG	0.408																																						uc002xmc.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						c.(670-672)caT>caC		Homo sapiens tocopherol (alpha) transfer protein-like (TTPAL), transcript variant 1, mRNA.							121.0	115.0	117.0					20																	43115268		2203	4300	6503	SO:0001819	synonymous_variant	79183					intracellular	transporter activity	g.chr20:43115268T>C	BC003071	CCDS13332.2	20q13.12	2008-06-23	2008-06-23	2008-06-23	ENSG00000124120	ENSG00000124120			16114	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 121"""	C20orf121			Standard	NM_024331		Approved	dJ179M20.3	uc002xmd.2	Q9BTX7	OTTHUMG00000032536	ENST00000372904.3:c.672T>C	20.37:g.43115268T>C						TTPAL_uc002xmd.1_Silent_p.H224H|TTPAL_uc010ggr.1_Silent_p.H37H	p.H224H	NM_024331	NP_077307	Q9BTX7	TTPAL_HUMAN			4	796	+			224			CRAL-TRIO.		E1P5X3|Q5QPC1|Q9H1G2|Q9NQG8	Silent	SNP	ENST00000372904.3	37	c.672T>C	CCDS13332.2																																																																																				0.408	TTPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106886.2	NM_024331	
TRAPPC10	7109	broad.mit.edu	37	21	45513965	45513965	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr21:45513965G>A	ENST00000291574.4	+	20	3194	c.3019G>A	c.(3019-3021)Gtg>Atg	p.V1007M	TRAPPC10_ENST00000483973.1_3'UTR	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1007					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)	p.V1007L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CAAGCAGTCGGTGTTCTTCGT	0.542																																						uc002zea.3																			1	Substitution - Missense(1)	p.V1007L(2)|p.V1007A(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						c.(3019-3021)Gtg>Atg		Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.							147.0	130.0	136.0					21																	45513965		2203	4300	6503	SO:0001583	missense	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45513965G>A	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.3019G>A	21.37:g.45513965G>A	ENSP00000291574:p.Val1007Met					TRAPPC10_uc010gpo.3_Missense_Mutation_p.V718M|TRAPPC10_uc011afa.2_Missense_Mutation_p.V385M|TRAPPC10_uc011afb.1_Missense_Mutation_p.V112M	p.V1007M	NM_003274	NP_003265	P48553	TPC10_HUMAN			19	3188	+			1007					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	37	c.3019G>A	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159541	0.38119	.	.	ENSG00000160218	ENST00000291574;ENST00000542855	T	0.30714	1.52	5.11	4.22	0.49857	.	0.148349	0.46442	D	0.000294	T	0.27866	0.0686	L	0.43923	1.385	0.46927	D	0.99925	P;P;B	0.45428	0.858;0.512;0.163	B;B;B	0.43386	0.418;0.115;0.117	T	0.03807	-1.1002	10	0.59425	D	0.04	.	8.6692	0.34140	0.0822:0.2892:0.6285:0.0	.	112;266;1007	B4DV34;B4DI17;P48553	.;.;TPC10_HUMAN	M	1007;138	ENSP00000291574:V1007M	ENSP00000291574:V1007M	V	+	1	0	TRAPPC10	44338393	0.988000	0.35896	0.942000	0.38095	0.914000	0.54420	2.057000	0.41365	1.274000	0.44362	-0.150000	0.13652	GTG		0.542	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274	
COL6A1	1291	broad.mit.edu	37	21	47421892	47421892	+	Silent	SNP	G	G	A	rs568596125		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr21:47421892G>A	ENST00000361866.3	+	31	2088	c.1974G>A	c.(1972-1974)tcG>tcA	p.S658S	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	658	C-terminal globular domain.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		CAGGGCAGTCGTACGCGGGTG	0.652																																						uc002zhu.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1972-1974)tcG>tcA		Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	Palifermin(DB00039)						38.0	36.0	37.0					21																	47421892		2203	4300	6503	SO:0001819	synonymous_variant	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47421892G>A	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.1974G>A	21.37:g.47421892G>A						COL6A1_uc002zhv.1_5'UTR	p.S658S	NM_001848	NP_001839	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	30	2076	+	all_hematologic(128;0.24)		658			C-terminal globular domain.|VWFA 2.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Silent	SNP	ENST00000361866.3	37	c.1974G>A	CCDS13727.1																																																																																				0.652	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848	
CCT8L2	150160	broad.mit.edu	37	22	17072055	17072055	+	Silent	SNP	G	G	A	rs370876356		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr22:17072055G>A	ENST00000359963.3	-	1	1645	c.1386C>T	c.(1384-1386)gaC>gaT	p.D462D		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	462					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CTGCCATCACGTCTGAGACAG	0.527																																						uc002zlp.1																			0		p.D462H(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(1384-1386)gaC>gaT		Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	125.0	128.0	127.0		1386	-4.0	0.0	22		127	0,8600		0,0,4300	no	coding-synonymous	CCT8L2	NM_014406.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		462/558	17072055	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072055G>A	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.1386C>T	22.37:g.17072055G>A							p.D462D	NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN			0	1646	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	462					A4QPH3|Q9UJS3	Silent	SNP	ENST00000359963.3	37	c.1386C>T	CCDS13738.1																																																																																				0.527	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1		
SETD5	55209	broad.mit.edu	37	3	9489393	9489393	+	Silent	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr3:9489393C>T	ENST00000406341.1	+	14	1996	c.1806C>T	c.(1804-1806)gtC>gtT	p.V602V	SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000302463.6_Silent_p.V504V|SETD5_ENST00000402198.1_Silent_p.V602V|SETD5_ENST00000402466.1_Silent_p.V504V|SETD5_ENST00000407969.1_Silent_p.V621V			Q9C0A6	SETD5_HUMAN	SET domain containing 5	602										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AAAAACTAGTCCCCAAGCCAC	0.468																																						uc003brt.3																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1804-1806)gtC>gtT		Homo sapiens SET domain containing 5 (SETD5), mRNA.							92.0	95.0	94.0					3																	9489393		1881	4117	5998	SO:0001819	synonymous_variant	55209							g.chr3:9489393C>T	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.1806C>T	3.37:g.9489393C>T						SETD5_uc003brs.1_Silent_p.V583V|SETD5_uc003bru.3_Silent_p.V504V|SETD5_uc003brv.3_Silent_p.V491V|SETD5_uc010hck.3_Silent_p.V84V|SETD5_uc003brx.3_Silent_p.V271V	p.V602V	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	14	2241	+	Medulloblastoma(99;0.227)		602					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Silent	SNP	ENST00000406341.1	37	c.1806C>T	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	C	7.279	0.608743	0.14066	.	.	ENSG00000168137	ENST00000399686	.	.	.	5.69	1.47	0.22746	.	.	.	.	.	T	0.53514	0.1801	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41858	-0.9485	4	.	.	.	-1.5246	6.044	0.19750	0.0:0.4482:0.219:0.3328	.	.	.	.	S	270	.	.	P	+	1	0	SETD5	9464393	0.001000	0.12720	0.998000	0.56505	0.941000	0.58515	-0.028000	0.12350	0.228000	0.21019	0.655000	0.94253	CCC		0.468	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614	
FAM19A4	151647	broad.mit.edu	37	3	68929927	68929927	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr3:68929927G>T	ENST00000295569.7	-	3	576	c.84C>A	c.(82-84)tgC>tgA	p.C28*	RNA5SP135_ENST00000517019.1_RNA	NM_001005527.2|NM_182522.4	NP_001005527.1|NP_872328.1	Q96LR4	F19A4_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A4	28						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		TCAGCTTACAGCACACCATTA	0.512																																						uc021xag.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10						c.(82-84)tgC>tgA		Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A4 (FAM19A4), transcript variant 1, mRNA.							98.0	90.0	93.0					3																	68929927		2203	4300	6503	SO:0001587	stop_gained	151647					extracellular region		g.chr3:68929927G>T	AY325117	CCDS2907.1	3p14.1	2014-08-14			ENSG00000163377	ENSG00000163377			21591	protein-coding gene	gene with protein product						15028294, 25109685	Standard	NM_182522		Approved	TAFA-4	uc021xah.1	Q96LR4	OTTHUMG00000158744	ENST00000295569.7:c.84C>A	3.37:g.68929927G>T	ENSP00000295569:p.Cys28*					FAM19A4_uc021xah.1_Nonsense_Mutation_p.C28*|5S_rRNA_uc021xai.1_5'Flank	p.C28*	NM_182522	NP_872328	Q96LR4	F19A4_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)	2	577	-		Lung NSC(201;0.0198)	28					A8MVT2	Nonsense_Mutation	SNP	ENST00000295569.7	37	c.84C>A	CCDS2907.1	.	.	.	.	.	.	.	.	.	.	G	39	7.710657	0.98447	.	.	ENSG00000163377	ENST00000295569;ENST00000495737	.	.	.	5.08	5.08	0.68730	.	0.226622	0.46758	D	0.000268	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.4263	18.4864	0.90831	0.0:0.0:1.0:0.0	.	.	.	.	X	28	.	ENSP00000295569:C28X	C	-	3	2	FAM19A4	69012617	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.370000	0.59517	2.355000	0.79922	0.591000	0.81541	TGC		0.512	FAM19A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352002.1	NM_182522	
CEP97	79598	broad.mit.edu	37	3	101476715	101476715	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr3:101476715G>T	ENST00000341893.3	+	9	2017	c.1265G>T	c.(1264-1266)aGg>aTg	p.R422M	CEP97_ENST00000327230.4_Missense_Mutation_p.R422M|CEP97_ENST00000494050.1_Missense_Mutation_p.R363M			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	422	CCP110-binding.				cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GTTGAGCTGAGGCTGCAGGGC	0.473																																						uc003dvk.1																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1264-1266)aGg>aTg		Homo sapiens centrosomal protein 97kDa (CEP97), mRNA.							110.0	101.0	104.0					3																	101476715		2203	4300	6503	SO:0001583	missense	79598					centrosome|nucleus	protein binding	g.chr3:101476715G>T	AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"""leucine-rich repeats and IQ motif containing 2"""	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.1265G>T	3.37:g.101476715G>T	ENSP00000342510:p.Arg422Met					CEP97_uc010hpm.1_Missense_Mutation_p.R388M|CEP97_uc011bhf.1_Missense_Mutation_p.R363M|CEP97_uc003dvl.1_Missense_Mutation_p.R118M|CEP97_uc003dvm.1_Missense_Mutation_p.R260M	p.R422M	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN			8	1292	+			422			CEP110 binding.		B5MDY8|Q8NA71|Q9H5T9	Missense_Mutation	SNP	ENST00000341893.3	37	c.1265G>T	CCDS2944.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.742504	0.49151	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	T;T;T	0.59638	0.49;0.5;0.25	5.37	4.49	0.54785	.	0.134965	0.51477	D	0.000097	T	0.62380	0.2423	L	0.53249	1.67	0.36721	D	0.88116	D;D;P	0.57571	0.98;0.979;0.951	P;P;P	0.53593	0.635;0.73;0.541	T	0.69394	-0.5157	10	0.49607	T	0.09	-4.2638	11.1849	0.48650	0.1634:0.0:0.8366:0.0	.	363;422;422	E9PG22;Q8IW35-2;Q8IW35	.;.;CEP97_HUMAN	M	422;422;363	ENSP00000342510:R422M;ENSP00000325881:R422M;ENSP00000418185:R363M	ENSP00000325881:R422M	R	+	2	0	CEP97	102959405	1.000000	0.71417	0.989000	0.46669	0.368000	0.29767	3.185000	0.50934	1.234000	0.43709	0.305000	0.20034	AGG		0.473	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548	
SPON2	10417	broad.mit.edu	37	4	1165082	1165082	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr4:1165082G>T	ENST00000290902.5	-	3	745	c.413C>A	c.(412-414)gCg>gAg	p.A138E	SPON2_ENST00000431380.1_Missense_Mutation_p.A138E	NM_012445.3	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	138	Spondin. {ECO:0000255|PROSITE- ProRule:PRU00364}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		CTCCAGCTCCGCCGACGTCTG	0.786																																						uc003gco.4																			0		p.A138A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9						c.(412-414)gCg>gAg		Homo sapiens spondin 2, extracellular matrix protein (SPON2), transcript variant 1, mRNA.							4.0	5.0	4.0					4																	1165082		1712	3542	5254	SO:0001583	missense	10417				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding	g.chr4:1165082G>T	AB027466	CCDS3347.1	4p16.3	2008-07-29			ENSG00000159674	ENSG00000159674			11253	protein-coding gene	gene with protein product	"""Mindin"", ""M-spondin"""	605918				10512675, 15094111	Standard	NM_012445		Approved	DIL1	uc003gco.4	Q9BUD6	OTTHUMG00000089002	ENST00000290902.5:c.413C>A	4.37:g.1165082G>T	ENSP00000290902:p.Ala138Glu					SPON2_uc021xkj.1_Missense_Mutation_p.A138E|SPON2_uc010ibr.3_Missense_Mutation_p.A138E|SPON2_uc003gcm.1_Missense_Mutation_p.A56E	p.A138E	NM_012445	NP_036577	Q9BUD6	SPON2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)	2	742	-			138			Spondin.		D3DVN9|Q4W5N4|Q9ULW1	Missense_Mutation	SNP	ENST00000290902.5	37	c.413C>A	CCDS3347.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.911409	0.72983	.	.	ENSG00000159674	ENST00000290902;ENST00000431380	T;T	0.51325	0.71;0.71	4.59	3.74	0.42951	Spondin, N-terminal (2);	0.508381	0.23142	N	0.051455	T	0.58637	0.2136	L	0.57536	1.79	0.24118	N	0.995812	D;D;D	0.58970	0.984;0.97;0.966	P;P;P	0.58577	0.671;0.572;0.841	T	0.53012	-0.8498	10	0.72032	D	0.01	.	12.0703	0.53611	0.0864:0.0:0.9136:0.0	.	138;138;2	D3DVN9;Q9BUD6;Q9H7I1	.;SPON2_HUMAN;.	E	138	ENSP00000290902:A138E;ENSP00000394832:A138E	ENSP00000290902:A138E	A	-	2	0	SPON2	1155082	0.992000	0.36948	0.046000	0.18839	0.923000	0.55619	7.151000	0.77411	0.914000	0.36822	0.511000	0.50034	GCG		0.786	SPON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202080.2		
HELQ	113510	broad.mit.edu	37	4	84368060	84368060	+	Silent	SNP	T	T	C			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr4:84368060T>C	ENST00000295488.3	-	4	1482	c.1320A>G	c.(1318-1320)aaA>aaG	p.K440K	HELQ_ENST00000510985.1_Intron	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	440	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AGCTATGTCCTTTTTCAATAG	0.373								Other identified genes with known or suspected DNA repair function																														uc003hom.3																			0				breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						c.(1318-1320)aaA>aaG	Other identified genes with known or suspected DNA repair function	Homo sapiens helicase, POLQ-like (HELQ), mRNA.							136.0	130.0	132.0					4																	84368060		2203	4300	6503	SO:0001819	synonymous_variant	113510						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr4:84368060T>C	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.1320A>G	4.37:g.84368060T>C						HELQ_uc010ikb.3_Intron|HELQ_uc003hol.4_Non-coding_Transcript|HELQ_uc010ikc.3_Non-coding_Transcript	p.K440K	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN			3	1499	-			440			Helicase ATP-binding.		Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Silent	SNP	ENST00000295488.3	37	c.1320A>G	CCDS3603.1																																																																																				0.373	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636	
BMPR1B	658	broad.mit.edu	37	4	96075770	96075770	+	Silent	SNP	G	G	C			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr4:96075770G>C	ENST00000515059.1	+	13	1738	c.1455G>C	c.(1453-1455)ctG>ctC	p.L485L	BMPR1B_ENST00000394931.1_Silent_p.L485L|BMPR1B_ENST00000440890.2_Silent_p.L515L|BMPR1B_ENST00000264568.4_Silent_p.L485L	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	485	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		TGACAGCCCTGCGGGTTAAGA	0.448																																						uc003htm.4																			0		p.A484T(1)		breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1453-1455)ctG>ctC		Homo sapiens bone morphogenetic protein receptor, type IB (BMPR1B), mRNA.							72.0	75.0	74.0					4																	96075770		2203	4300	6503	SO:0001819	synonymous_variant	658				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity	g.chr4:96075770G>C	D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"""CD molecules"""	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.1455G>C	4.37:g.96075770G>C						BMPR1B_uc010ilb.3_Silent_p.L485L|BMPR1B_uc003htn.4_Silent_p.L485L	p.L485L	NM_001203	NP_001194	O00238	BMR1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)	12	1729	+		Hepatocellular(203;0.114)	485			Protein kinase.		B2R953|B4DSV1|P78366	Silent	SNP	ENST00000515059.1	37	c.1455G>C	CCDS3642.1																																																																																				0.448	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253609.3	NM_001203	
DKK2	27123	broad.mit.edu	37	4	107845338	107845338	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr4:107845338G>A	ENST00000285311.3	-	4	1258	c.553C>T	c.(553-555)Cga>Tga	p.R185*	DKK2_ENST00000513208.1_Nonsense_Mutation_p.R85*|DKK2_ENST00000510463.1_Nonsense_Mutation_p.R139*	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	185	DKK-type Cys-2.				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		TCTGATGATCGTAGGCAGGGG	0.448																																						uc003hyi.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(553-555)Cga>Tga		Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.							87.0	83.0	84.0					4																	107845338		2203	4300	6503	SO:0001587	stop_gained	27123				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		g.chr4:107845338G>A	AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"""dickkopf (Xenopus laevis) homolog 2"", ""dickkopf 2 homolog (Xenopus laevis)"""			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.553C>T	4.37:g.107845338G>A	ENSP00000285311:p.Arg185*					DKK2_uc003hyj.1_3'UTR	p.R185*	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)	3	1258	-		Hepatocellular(203;0.217)	185			DKK-type Cys-2.		A0AVE9|B2R6S7|Q9UIU3	Nonsense_Mutation	SNP	ENST00000285311.3	37	c.553C>T	CCDS3675.1	.	.	.	.	.	.	.	.	.	.	G	33	5.258659	0.95368	.	.	ENSG00000155011	ENST00000285311;ENST00000513208;ENST00000510463	.	.	.	5.64	2.8	0.32819	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.2292	14.9299	0.70906	0.0:0.0:0.5138:0.4862	.	.	.	.	X	185;85;139	.	ENSP00000285311:R185X	R	-	1	2	DKK2	108064787	0.997000	0.39634	0.639000	0.29394	0.993000	0.82548	2.477000	0.45180	0.686000	0.31488	0.585000	0.79938	CGA		0.448	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4		
ZFR	51663	broad.mit.edu	37	5	32390482	32390482	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr5:32390482G>A	ENST00000265069.8	-	12	2143	c.2041C>T	c.(2041-2043)Cgc>Tgc	p.R681C		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	681					multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		ATTCGGCGGCGATCATCCCAA	0.507																																						uc003jhr.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(2041-2043)Cgc>Tgc		Homo sapiens zinc finger RNA binding protein (ZFR), mRNA.							149.0	143.0	145.0					5																	32390482		2203	4300	6503	SO:0001583	missense	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32390482G>A	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.2041C>T	5.37:g.32390482G>A	ENSP00000265069:p.Arg681Cys					ZFR_uc011cny.1_5'Flank	p.R681C	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	11	2121	-			681					B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	ENST00000265069.8	37	c.2041C>T	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.947266	0.53186	.	.	ENSG00000056097	ENST00000265069;ENST00000382126	T	0.05855	3.38	5.42	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.21387	0.0515	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.00154	-1.1981	10	0.41790	T	0.15	.	13.2874	0.60251	0.0:0.0:0.7151:0.2849	.	681	Q96KR1	ZFR_HUMAN	C	681;659	ENSP00000265069:R681C	ENSP00000265069:R681C	R	-	1	0	ZFR	32426239	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.717000	0.61923	2.550000	0.86006	0.561000	0.74099	CGC		0.507	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1		
CARTPT	9607	broad.mit.edu	37	5	71015195	71015195	+	Silent	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr5:71015195C>T	ENST00000296777.4	+	1	206	c.75C>T	c.(73-75)acC>acT	p.T25T		NM_004291.3	NP_004282.1	Q16568	CART_HUMAN	CART prepropeptide	25					activation of MAPKK activity (GO:0000186)|adult feeding behavior (GO:0008343)|cell-cell signaling (GO:0007267)|cellular glucose homeostasis (GO:0001678)|cellular response to starvation (GO:0009267)|circadian regulation of gene expression (GO:0032922)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of appetite (GO:0032099)|negative regulation of bone resorption (GO:0045779)|negative regulation of glucagon secretion (GO:0070093)|negative regulation of osteoclast differentiation (GO:0045671)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of epinephrine secretion (GO:0032812)|positive regulation of transmission of nerve impulse (GO:0051971)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|somatostatin secretion (GO:0070253)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|secretory granule (GO:0030141)				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	Amphetamine(DB00182)	TGTTGGGTACCCGTGCCCAGG	0.657																																						uc003kbv.2																			0				large_intestine(1)|lung(2)|ovary(1)	4						c.(73-75)acC>acT		Homo sapiens CART prepropeptide (CARTPT), mRNA.	Amphetamine(DB00182)						65.0	64.0	65.0					5																	71015195		2203	4300	6503	SO:0001819	synonymous_variant	9607				activation of MAPKK activity|adult feeding behavior|cellular glucose homeostasis|cellular response to starvation|circadian regulation of gene expression|negative regulation of appetite|negative regulation of bone resorption|negative regulation of osteoclast differentiation|neuropeptide signaling pathway|positive regulation of blood pressure|positive regulation of epinephrine secretion|positive regulation of transmission of nerve impulse|synaptic transmission	extracellular space		g.chr5:71015195C>T	U16826	CCDS4011.1	5q13.2	2008-02-05			ENSG00000164326	ENSG00000164326			24323	protein-coding gene	gene with protein product	"""cocaine and amphetamine regulated transcript"""	602606				9590691, 8647455	Standard	NM_004291		Approved	CART	uc003kbv.2	Q16568	OTTHUMG00000131261	ENST00000296777.4:c.75C>T	5.37:g.71015195C>T							p.T25T	NM_004291	NP_004282	Q16568	CART_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	0	206	+		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)	25					Q6FG92	Silent	SNP	ENST00000296777.4	37	c.75C>T	CCDS4011.1																																																																																				0.657	CARTPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254029.2	NM_004291	
GCNT4	51301	broad.mit.edu	37	5	74325583	74325583	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr5:74325583C>A	ENST00000322348.4	-	1	1141	c.280G>T	c.(280-282)Gac>Tac	p.D94Y		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	94					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|homeostasis of number of cells (GO:0048872)|inter-male aggressive behavior (GO:0002121)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|thyroid hormone metabolic process (GO:0042403)|tissue morphogenesis (GO:0048729)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		TCAATGATGTCCCTTCTTCTT	0.403																																						uc003kdn.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19						c.(280-282)Gac>Tac		Homo sapiens glucosaminyl (N-acetyl) transferase 4, core 2 (GCNT4), mRNA.							172.0	162.0	166.0					5																	74325583		2203	4300	6503	SO:0001583	missense	51301				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr5:74325583C>A	AF132035	CCDS4026.1	5q12	2013-02-25	2010-03-16		ENSG00000176928	ENSG00000176928	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	17973	protein-coding gene	gene with protein product	"""core 2 beta-1,6-N-acetylglucosaminyltransferase 3"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4"""		"""glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""			10753916	Standard	NM_016591		Approved	C2GNT3	uc003kdn.3	Q9P109	OTTHUMG00000131272	ENST00000322348.4:c.280G>T	5.37:g.74325583C>A	ENSP00000317027:p.Asp94Tyr						p.D94Y	NM_016591	NP_057675	Q9P109	GCNT4_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)	0	1142	-		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)	94						Missense_Mutation	SNP	ENST00000322348.4	37	c.280G>T	CCDS4026.1	.	.	.	.	.	.	.	.	.	.	.	9.583	1.124112	0.20959	.	.	ENSG00000176928	ENST00000322348	T	0.43294	0.95	6.14	3.31	0.37934	.	1.859620	0.02066	N	0.051132	T	0.34366	0.0895	L	0.38175	1.15	0.09310	N	1	B	0.23854	0.092	B	0.21360	0.034	T	0.19353	-1.0308	10	0.15066	T	0.55	-9.0173	6.9017	0.24286	0.0:0.5537:0.2944:0.1519	.	94	Q9P109	GCNT4_HUMAN	Y	94	ENSP00000317027:D94Y	ENSP00000317027:D94Y	D	-	1	0	GCNT4	74361339	0.012000	0.17670	0.085000	0.20634	0.978000	0.69477	0.979000	0.29500	0.418000	0.25898	0.650000	0.86243	GAC		0.403	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254040.1	NM_016591	
SLC36A2	153201	broad.mit.edu	37	5	150704898	150704898	+	Missense_Mutation	SNP	C	C	T	rs199803602		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr5:150704898C>T	ENST00000335244.4	-	8	1088	c.959G>A	c.(958-960)cGg>cAg	p.R320Q	SLC36A2_ENST00000521967.1_Missense_Mutation_p.R320Q|SLC36A2_ENST00000450886.1_Missense_Mutation_p.R44Q	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	320					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	ATCTCCAAACCGCAGGTAGCC	0.532																																						uc003lty.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(958-960)cGg>cAg		Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA.							87.0	70.0	76.0					5																	150704898		2203	4300	6503	SO:0001583	missense	153201				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity	g.chr5:150704898C>T	AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"""Solute carriers"""	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.959G>A	5.37:g.150704898C>T	ENSP00000334223:p.Arg320Gln					SLC36A2_uc003ltz.3_Non-coding_Transcript|SLC36A2_uc003lua.3_Missense_Mutation_p.R122Q|SLC36A2_uc010jhv.2_Missense_Mutation_p.R320Q	p.R320Q	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1089	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	320					Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Missense_Mutation	SNP	ENST00000335244.4	37	c.959G>A	CCDS4315.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	C|C	12.25|12.25	1.882079|1.882079	0.33255|0.33255	.|.	.|.	ENSG00000186335|ENSG00000186335	ENST00000523044|ENST00000335244;ENST00000450886;ENST00000521967	.|T;T;T	.|0.02216	.|4.39;4.39;4.39	4.69|4.69	1.21|1.21	0.21127|0.21127	.|.	.|0.354681	.|0.32473	.|N	.|0.006052	T|T	0.01940|0.01940	0.0061|0.0061	N|N	0.25890|0.25890	0.77|0.77	0.35391|0.35391	D|D	0.790757|0.790757	.|B;B	.|0.21225	.|0.018;0.053	.|B;B	.|0.16289	.|0.015;0.015	T|T	0.48328|0.48328	-0.9045|-0.9045	5|10	.|0.37606	.|T	.|0.19	-6.204|-6.204	10.6339|10.6339	0.45554|0.45554	0.0:0.7516:0.0:0.2484|0.0:0.7516:0.0:0.2484	.|.	.|320;320	.|E5RJJ5;Q495M3	.|.;S36A2_HUMAN	S|Q	73|320;44;320	.|ENSP00000334223:R320Q;ENSP00000399479:R44Q;ENSP00000430535:R320Q	.|ENSP00000334223:R320Q	G|R	-|-	1|2	0|0	SLC36A2|SLC36A2	150685091|150685091	1.000000|1.000000	0.71417|0.71417	0.742000|0.742000	0.31022|0.31022	0.535000|0.535000	0.34838|0.34838	3.628000|3.628000	0.54259|0.54259	0.251000|0.251000	0.21505|0.21505	0.313000|0.313000	0.20887|0.20887	GGT|CGG		0.532	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1		
IL12B	3593	broad.mit.edu	37	5	158743808	158743808	+	Missense_Mutation	SNP	G	G	A	rs367828574		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr5:158743808G>A	ENST00000231228.2	-	7	1327	c.872C>T	c.(871-873)aCg>aTg	p.T291M	RNU4ATAC2P_ENST00000408674.1_RNA	NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B	291	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|interferon-gamma biosynthetic process (GO:0042095)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of cell adhesion (GO:0045785)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to UV-B (GO:0010224)|sensory perception of pain (GO:0019233)|sexual reproduction (GO:0019953)|T-helper 1 type immune response (GO:0042088)|T-helper cell differentiation (GO:0042093)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)|interleukin-23 complex (GO:0070743)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|interleukin-12 alpha subunit binding (GO:0042164)|interleukin-12 receptor binding (GO:0005143)|protein heterodimerization activity (GO:0046982)			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTCTTGTCCGTGAAGACTCT	0.512											OREG0016989	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003lxr.1																			0				cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11						c.(871-873)aCg>aTg		Homo sapiens interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) (IL12B), mRNA.		G	MET/THR	0,4406		0,0,2203	91.0	84.0	86.0		872	-9.3	0.0	5		86	1,8599	1.2+/-3.3	0,1,4299	no	missense	IL12B	NM_002187.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	291/329	158743808	1,13005	2203	4300	6503	SO:0001583	missense	3593				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity	g.chr5:158743808G>A	M65290	CCDS4346.1	5q31.1-q33.1	2014-09-17	2014-04-04		ENSG00000113302	ENSG00000113302		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5970	protein-coding gene	gene with protein product	"""natural killer cell stimulatory factor-2"", ""cytotoxic lymphocyte maturation factor 2, p40"", ""interleukin 12, p40"", ""natural killer cell stimulatory factor, 40 kD subunit"", ""interleukin-12 beta chain"", ""IL12, subunit p40"""	161561	"""interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)"""	NKSF2		1673147	Standard	NM_002187		Approved	CLMF, IL-12B, NKSF, CLMF2	uc003lxr.1	P29460	OTTHUMG00000130307	ENST00000231228.2:c.872C>T	5.37:g.158743808G>A	ENSP00000231228:p.Thr291Met		OREG0016989	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1796	RNU4ATAC_uc021ygw.1_5'Flank	p.T291M	NM_002187	NP_002178	P29460	IL12B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		6	914	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	291			Fibronectin type-III.			Missense_Mutation	SNP	ENST00000231228.2	37	c.872C>T	CCDS4346.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.433719	0.25813	0.0	1.16E-4	ENSG00000113302	ENST00000231228	T	0.19394	2.15	6.03	-9.31	0.00646	Fibronectin, type III (2);Immunoglobulin-like fold (1);	1.689060	0.02849	N	0.128902	T	0.13200	0.0320	L	0.28400	0.85	0.09310	N	1	B	0.20164	0.042	B	0.06405	0.002	T	0.12218	-1.0556	10	0.34782	T	0.22	-4.1081	9.3552	0.38161	0.2671:0.0:0.5421:0.1908	.	291	P29460	IL12B_HUMAN	M	291	ENSP00000231228:T291M	ENSP00000231228:T291M	T	-	2	0	IL12B	158676386	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.861000	0.04268	-1.684000	0.01443	-0.905000	0.02835	ACG		0.512	IL12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252652.2	NM_002187	
FOXF2	2295	broad.mit.edu	37	6	1391312	1391312	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr6:1391312A>G	ENST00000259806.1	+	1	1244	c.1130A>G	c.(1129-1131)gAg>gGg	p.E377G		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	377					embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity of embryonic epithelium (GO:0042249)|extracellular matrix organization (GO:0030198)|genitalia development (GO:0048806)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		TACTCGCTGGAGCAGAGCTAC	0.682																																						uc003mtm.3																			0				large_intestine(2)|lung(5)|prostate(1)	8						c.(1129-1131)gAg>gGg		Homo sapiens forkhead box F2 (FOXF2), mRNA.							16.0	16.0	16.0					6																	1391312		2170	4255	6425	SO:0001583	missense	2295				epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr6:1391312A>G	U13220	CCDS4472.1	6p25.3	2008-04-10			ENSG00000137273	ENSG00000137273		"""Forkhead boxes"""	3810	protein-coding gene	gene with protein product		603250		FKHL6		9799607, 7957066	Standard	NM_001452		Approved	FREAC2	uc003mtm.3	Q12947	OTTHUMG00000016243	ENST00000259806.1:c.1130A>G	6.37:g.1391312A>G	ENSP00000259806:p.Glu377Gly						p.E377G	NM_001452	NP_001443	Q12947	FOXF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.095)	0	1244	+	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)	377					Q5TGJ1|Q9UQ85	Missense_Mutation	SNP	ENST00000259806.1	37	c.1130A>G	CCDS4472.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.033174	0.75504	.	.	ENSG00000137273	ENST00000259806	D	0.93859	-3.3	4.58	4.58	0.56647	.	0.327612	0.27504	N	0.019064	D	0.86577	0.5966	L	0.52364	1.645	0.58432	D	0.999999	B	0.27765	0.188	B	0.24974	0.057	D	0.86685	0.1919	10	0.49607	T	0.09	.	12.9552	0.58424	1.0:0.0:0.0:0.0	.	377	Q12947	FOXF2_HUMAN	G	377	ENSP00000259806:E377G	ENSP00000259806:E377G	E	+	2	0	FOXF2	1336311	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.877000	0.63086	1.926000	0.55796	0.459000	0.35465	GAG		0.682	FOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043558.1		
TFAP2A	7020	broad.mit.edu	37	6	10410393	10410393	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr6:10410393G>A	ENST00000482890.1	-	3	573	c.221C>T	c.(220-222)tCc>tTc	p.S74F	TFAP2A_ENST00000319516.4_Missense_Mutation_p.S70F|TFAP2A_ENST00000379613.3_Missense_Mutation_p.S76F|TFAP2A_ENST00000379608.3_Missense_Mutation_p.S68F|TFAP2A-AS1_ENST00000420777.1_RNA|TFAP2A_ENST00000497266.1_Intron|TFAP2A_ENST00000379604.2_Missense_Mutation_p.S74F			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	74	Gln/Pro-rich (transactivation domain).				anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				GTTGACGTGGGAGTAAGGATC	0.682																																						uc003myr.3																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13						c.(220-222)tCc>tTc		Homo sapiens transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) (TFAP2A), transcript variant 1, mRNA.							50.0	58.0	55.0					6																	10410393		2203	4299	6502	SO:0001583	missense	7020				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr6:10410393G>A	X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"""transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"""	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.221C>T	6.37:g.10410393G>A	ENSP00000418541:p.Ser74Phe					TFAP2A_uc003myq.3_Missense_Mutation_p.S68F|TFAP2A_uc003mys.3_Intron|TFAP2A_uc011dih.2_Missense_Mutation_p.S74F|TFAP2A_uc003myt.3_Missense_Mutation_p.S70F|TFAP2A_uc003myu.1_Missense_Mutation_p.S74F|TFAP2A_uc011dii.1_Missense_Mutation_p.S70F|LOC100130275_uc003myw.3_5'Flank	p.S74F	NM_003220	NP_003211	P05549	AP2A_HUMAN			1	473	-	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)	74			Gln/Pro-rich (transactivation domain).		Q13777|Q5TAV5|Q8N1C6	Missense_Mutation	SNP	ENST00000482890.1	37	c.221C>T	CCDS4510.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625634	0.87560	.	.	ENSG00000137203	ENST00000379613;ENST00000379604;ENST00000319516;ENST00000379608;ENST00000482890;ENST00000466073;ENST00000465858	D;D;D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.88392	0.6424	M	0.73217	2.22	0.80722	D	1	D;D;D;D;P;P;P	0.76494	0.999;0.976;0.976;0.99;0.877;0.877;0.929	D;P;P;D;P;P;P	0.66196	0.942;0.726;0.714;0.909;0.548;0.548;0.812	D	0.88959	0.3392	10	0.54805	T	0.06	-8.9079	18.1709	0.89745	0.0:0.0:1.0:0.0	.	76;74;74;76;70;74;68	Q96SH1;C1K3N0;P05549-2;Q96SH0;Q5TAV5;P05549;Q8N1C6	.;.;.;.;.;AP2A_HUMAN;.	F	76;74;70;68;74;74;119	ENSP00000368933:S76F;ENSP00000368924:S74F;ENSP00000316516:S70F;ENSP00000368928:S68F;ENSP00000418541:S74F;ENSP00000417495:S74F;ENSP00000418391:S119F	ENSP00000316516:S70F	S	-	2	0	TFAP2A	10518379	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.863000	0.99569	2.273000	0.75805	0.585000	0.79938	TCC		0.682	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353619.2	NM_003220	
BAI3	577	broad.mit.edu	37	6	70042889	70042889	+	Silent	SNP	A	A	G			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr6:70042889A>G	ENST00000370598.1	+	24	3998	c.3177A>G	c.(3175-3177)aaA>aaG	p.K1059K	BAI3_ENST00000238918.8_Silent_p.K265K|BAI3_ENST00000546190.1_Silent_p.K23K	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1059					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AAAAGCTCAAACACAGAGCCG	0.398																																						uc010kak.3																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(3175-3177)aaA>aaG		Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.							95.0	96.0	96.0					6																	70042889		2203	4299	6502	SO:0001819	synonymous_variant	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70042889A>G	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3177A>G	6.37:g.70042889A>G						BAI3_uc003pev.4_Silent_p.K1059K|BAI3_uc011dxx.2_Silent_p.K265K	p.K1059K	NM_001704	NP_001695	O60242	BAI3_HUMAN			22	3453	+		all_lung(197;0.212)	1059					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	c.3177A>G	CCDS4968.1																																																																																				0.398	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1		
CDK19	23097	broad.mit.edu	37	6	110959910	110959910	+	Splice_Site	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr6:110959910C>T	ENST00000368911.3	-	5	636		c.e5-1		CDK19_ENST00000323817.3_Splice_Site|CDK19_ENST00000413605.2_Splice_Site	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19								ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						TTGCTGGTTTCTAGAAATAAA	0.289																																						uc003puh.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						c.e5-1		Homo sapiens cyclin-dependent kinase 19 (CDK19), mRNA.							86.0	94.0	92.0					6																	110959910		2203	4295	6498	SO:0001630	splice_region_variant	23097						ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr6:110959910C>T	AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"""Cyclin-dependent kinases"""	19338	protein-coding gene	gene with protein product		614720	"""cyclin-dependent kinase (CDC2-like) 11"", ""cell division cycle 2-like 6 (CDK8-like)"""	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.457-1G>A	6.37:g.110959910C>T						CDK19_uc003pui.1_Splice_Site_p.K93_splice|CDK19_uc011eax.1_Splice_Site_p.K29_splice	p.K153_splice	NM_015076	NP_055891	Q9BWU1	CDK19_HUMAN			5	530	-			153			Protein kinase.		Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	Splice_Site	SNP	ENST00000368911.3	37	c.457_splice	CCDS5085.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.486303	0.84854	.	.	ENSG00000155111	ENST00000368911;ENST00000323817;ENST00000392576;ENST00000413605;ENST00000457688	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3754	0.98918	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDK19	111066603	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.294000	0.78760	2.894000	0.99253	0.591000	0.81541	.		0.289	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041804.1	NM_015076	Intron
TBC1D32	221322	broad.mit.edu	37	6	121560260	121560260	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr6:121560260G>A	ENST00000398212.2	-	20	2369	c.2320C>T	c.(2320-2322)Ccc>Tcc	p.P774S	TBC1D32_ENST00000398197.2_5'Flank|TBC1D32_ENST00000275159.6_Missense_Mutation_p.P774S	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	774					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										GTAGTTCTGGGATGGGTTACC	0.333																																						uc003pyo.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55						c.(2320-2322)Ccc>Tcc		Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.							142.0	141.0	141.0					6																	121560260		1818	4073	5891	SO:0001583	missense	221322				multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity	g.chr6:121560260G>A	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.2320C>T	6.37:g.121560260G>A	ENSP00000381270:p.Pro774Ser					C6orf170_uc003pyq.1_Non-coding_Transcript|C6orf170_uc010kej.1_5'Flank|C6orf170_uc003pyp.1_Missense_Mutation_p.P293S	p.P774S	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN		GBM - Glioblastoma multiforme(226;0.00521)	19	2388	-			774					Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	c.2320C>T	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.756077	0.69648	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.28069	1.63;1.63	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.51058	0.1652	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.55724	-0.8096	10	0.72032	D	0.01	.	18.3872	0.90470	0.0:0.0:1.0:0.0	.	774;774	Q96NH3-4;Q96NH3	.;BROMI_HUMAN	S	774	ENSP00000275159:P774S;ENSP00000381270:P774S	ENSP00000275159:P774S	P	-	1	0	C6orf170	121601959	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	8.277000	0.89896	2.510000	0.84645	0.460000	0.39030	CCC		0.333	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730	
LPA	4018	broad.mit.edu	37	6	160998167	160998167	+	Splice_Site	SNP	C	C	T	rs200099994	byFrequency	TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr6:160998167C>T	ENST00000316300.5	-	28	4676		c.e28+1		LPA_ENST00000447678.1_Splice_Site			P08519	APOA_HUMAN	lipoprotein, Lp(a)						blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CAAATACATACGCATTTGGGT	0.433													C|||	2	0.000399361	0.0	0.0	5008	,	,		16726	0.002		0.0	False		,,,				2504	0.0					uc003qtl.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.e29+1		Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	Aminocaproic Acid(DB00513)	C		2,4260		0,2,2129	164.0	170.0	168.0			2.5	1.0	6		168	1,8565		0,1,4282	yes	splice-5	LPA	NM_005577.2		0,3,6411	TT,TC,CC		0.0117,0.0469,0.0234			160998167	3,12825	2131	4283	6414	SO:0001630	splice_region_variant	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160998167C>T	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4631+1G>A	6.37:g.160998167C>T							p.A1544_splice	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	29	4751	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	4052			Kringle 14.		Q5VTD7|Q9UD88	Splice_Site	SNP	ENST00000316300.5	37	c.4631_splice	CCDS43523.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	8.233	0.805036	0.16467	4.69E-4	1.17E-4	ENSG00000198670	ENST00000316300;ENST00000447678	.	.	.	2.55	2.55	0.30701	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.5946	0.33707	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LPA	160918157	1.000000	0.71417	0.991000	0.47740	0.146000	0.21551	3.469000	0.53093	1.410000	0.46936	0.430000	0.28490	.		0.433	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577	Intron
SLC29A4	222962	broad.mit.edu	37	7	5331368	5331368	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr7:5331368G>A	ENST00000396872.3	+	5	621	c.460G>A	c.(460-462)Gac>Aac	p.D154N	SLC29A4_ENST00000297195.4_Missense_Mutation_p.D154N|SLC29A4_ENST00000406453.3_Silent_p.A141A			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	154					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	CAGCATCTGCGACGTGTGGCT	0.647																																						uc003sod.3																			0				breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20						c.(460-462)Gac>Aac		Homo sapiens solute carrier family 29 (nucleoside transporters), member 4 (SLC29A4), transcript variant 2, mRNA.							76.0	72.0	73.0					7																	5331368		2203	4300	6503	SO:0001583	missense	222962				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity	g.chr7:5331368G>A	AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"""Solute carriers"""	23097	protein-coding gene	gene with protein product		609149	"""solute carrier family 29 (nucleoside transporters), member 4"""			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.460G>A	7.37:g.5331368G>A	ENSP00000380081:p.Asp154Asn					SLC29A4_uc011jwg.1_Non-coding_Transcript|SLC29A4_uc003soc.3_Missense_Mutation_p.D154N|SLC29A4_uc003soe.3_Silent_p.A141A	p.D154N	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	4	621	+		Ovarian(82;0.0175)	154					Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Missense_Mutation	SNP	ENST00000396872.3	37	c.460G>A	CCDS5340.1	.	.	.	.	.	.	.	.	.	.	.	19.11	3.764006	0.69878	.	.	ENSG00000164638	ENST00000434816;ENST00000396872;ENST00000297195	T;T;T	0.32272	1.46;1.46;1.46	4.41	4.41	0.53225	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.40956	0.1138	M	0.84846	2.72	0.80722	D	1	P	0.39003	0.654	B	0.37833	0.259	T	0.51639	-0.8680	10	0.49607	T	0.09	-0.5537	15.189	0.73028	0.0:0.0:1.0:0.0	.	154	Q7RTT9	S29A4_HUMAN	N	154	ENSP00000406803:D154N;ENSP00000380081:D154N;ENSP00000297195:D154N	ENSP00000297195:D154N	D	+	1	0	SLC29A4	5297894	1.000000	0.71417	0.994000	0.49952	0.943000	0.58893	9.304000	0.96190	2.005000	0.58758	0.511000	0.50034	GAC		0.647	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	NM_153247	
GRM3	2913	broad.mit.edu	37	7	86468659	86468659	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr7:86468659C>T	ENST00000361669.2	+	4	2928	c.1829C>T	c.(1828-1830)tCg>tTg	p.S610L	GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.S202L|GRM3_ENST00000536043.1_Missense_Mutation_p.S482L|GRM3_ENST00000439827.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	610					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.S610L(2)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					GTCAAAGCATCGGGCCGAGAA	0.468																																					GBM(52;969 1098 3139 52280)	uc003uid.3																			2	Substitution - Missense(2)	p.S610L(4)	lung(1)|skin(1)	NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(1828-1830)tCg>tTg		Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	Acamprosate(DB00659)|Nicotine(DB00184)						207.0	158.0	175.0					7																	86468659		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86468659C>T		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.1829C>T	7.37:g.86468659C>T	ENSP00000355316:p.Ser610Leu					GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Missense_Mutation_p.S482L|GRM3_uc010leh.3_Missense_Mutation_p.S202L	p.S610L	NM_000840	NP_000831	Q14832	GRM3_HUMAN			3	2928	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		610					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.1829C>T	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588360	0.86851	.	.	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	D;D;D	0.89939	-2.59;-2.59;-2.59	6.17	6.17	0.99709	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.96306	0.8795	M	0.93720	3.45	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.983;0.99	D	0.96404	0.9299	10	0.87932	D	0	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	202;482;610	B7Z204;F5GYZ2;Q14832	.;.;GRM3_HUMAN	L	610;202;482	ENSP00000355316:S610L;ENSP00000444064:S202L;ENSP00000441407:S482L	ENSP00000355316:S610L	S	+	2	0	GRM3	86306595	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.026000	0.70873	2.941000	0.99782	0.655000	0.94253	TCG		0.468	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2		
TECPR1	25851	broad.mit.edu	37	7	97858368	97858368	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr7:97858368C>T	ENST00000447648.2	-	16	2692	c.2393G>A	c.(2392-2394)gGa>gAa	p.G798E	TECPR1_ENST00000379795.3_Missense_Mutation_p.G799E|TECPR1_ENST00000542604.1_Missense_Mutation_p.G728E|TECPR1_ENST00000479975.1_5'Flank			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	798					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GCAGCCGCCTCCATAGCCGCC	0.677																																						uc003upg.3																			0				central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2392-2394)gGa>gAa		Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA.							14.0	18.0	17.0					7																	97858368		1928	4104	6032	SO:0001583	missense	25851					integral to membrane	protein binding	g.chr7:97858368C>T		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.2393G>A	7.37:g.97858368C>T	ENSP00000404923:p.Gly798Glu					TECPR1_uc003uph.1_Missense_Mutation_p.G728E	p.G798E	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN			15	2598	-			798					A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	ENST00000447648.2	37	c.2393G>A	CCDS47648.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.650731	0.87958	.	.	ENSG00000205356	ENST00000447648;ENST00000379795;ENST00000542604	T;T;T	0.52983	0.88;0.88;0.64	5.27	5.27	0.74061	.	0.053281	0.85682	D	0.000000	T	0.69646	0.3134	M	0.79475	2.455	0.58432	D	0.999991	D;D	0.63880	0.993;0.958	D;P	0.67900	0.954;0.642	T	0.73745	-0.3886	10	0.72032	D	0.01	-19.6088	17.9306	0.88996	0.0:1.0:0.0:0.0	.	728;798	F5GX57;Q7Z6L1	.;TCPR1_HUMAN	E	798;799;728	ENSP00000404923:G798E;ENSP00000369121:G799E;ENSP00000441121:G728E	ENSP00000369121:G799E	G	-	2	0	TECPR1	97696304	0.999000	0.42202	0.977000	0.42913	0.546000	0.35178	5.980000	0.70516	2.463000	0.83235	0.650000	0.86243	GGA		0.677	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395	
CYP3A4	1576	broad.mit.edu	37	7	99359709	99359709	+	Missense_Mutation	SNP	C	C	T	rs372231982		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr7:99359709C>T	ENST00000336411.2	-	11	1391	c.1208G>A	c.(1207-1209)cGt>cAt	p.R403H	CYP3A4_ENST00000354593.2_Missense_Mutation_p.R253H	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	403					alkaloid catabolic process (GO:0009822)|androgen metabolic process (GO:0008209)|calcitriol biosynthetic process from calciol (GO:0036378)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|lipid metabolic process (GO:0006629)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	albendazole monooxygenase activity (GO:0047638)|caffeine oxidase activity (GO:0034875)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)|quinine 3-monooxygenase activity (GO:0050591)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)|taurochenodeoxycholate 6alpha-hydroxylase activity (GO:0033780)|testosterone 6-beta-hydroxylase activity (GO:0050649)|vitamin D 24-hydroxylase activity (GO:0070576)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Abiraterone(DB05812)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetazolamide(DB00819)|Adinazolam(DB00546)|ado-trastuzumab emtansine(DB05773)|Albendazole(DB00518)|Alclometasone(DB00240)|Aldesleukin(DB00041)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Alimemazine(DB01246)|Aliskiren(DB01258)|Allylestrenol(DB01431)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alosetron(DB00969)|Alprazolam(DB00404)|Ambroxol(DB06742)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Arsenic trioxide(DB01169)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atazanavir(DB01072)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Avanafil(DB06237)|Axitinib(DB06626)|Azatadine(DB00719)|Azelastine(DB00972)|Azithromycin(DB00207)|Bedaquiline(DB08903)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bezafibrate(DB01393)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bisoprolol(DB00612)|Boceprevir(DB08873)|Bortezomib(DB00188)|Bosentan(DB00559)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Brinzolamide(DB01194)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Brompheniramine(DB00835)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Busulfan(DB01008)|Cabazitaxel(DB06772)|Cabergoline(DB00248)|Cabozantinib(DB08875)|Caffeine(DB00201)|Calcitriol(DB00136)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Caspofungin(DB00520)|Cefradine(DB01333)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chenodeoxycholic acid(DB06777)|Chloramphenicol(DB00446)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clemastine(DB00283)|Clevidipine(DB04920)|Clindamycin(DB01190)|Clobazam(DB00349)|Clofazimine(DB00845)|Clofibrate(DB00636)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonazepam(DB01068)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Colchicine(DB01394)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cortisone acetate(DB01380)|Crizotinib(DB08865)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Cytarabine(DB00987)|Dabrafenib(DB08912)|Dalfopristin(DB01764)|Danazol(DB01406)|Dantrolene(DB01219)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Deferasirox(DB01609)|Delavirdine(DB00705)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Dicloxacillin(DB00485)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydrocodeine(DB01551)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Disopyramide(DB00280)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dofetilide(DB00204)|Dolasetron(DB00757)|Dolutegravir(DB08930)|Domperidone(DB01184)|Donepezil(DB00843)|Dorzolamide(DB00869)|Doxepin(DB01142)|Doxorubicin(DB00997)|Doxycycline(DB00254)|Dronabinol(DB00470)|Dronedarone(DB04855)|Dutasteride(DB01126)|Econazole(DB01127)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Epinephrine(DB00668)|Eplerenone(DB00700)|Ergocalciferol(DB00153)|Ergoloid mesylate(DB01049)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Estradiol valerate/Dienogest(DB08866)|Estradiol(DB00783)|Estramustine(DB01196)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Etravirine(DB06414)|Everolimus(DB01590)|Exemestane(DB00990)|Ezetimibe(DB00973)|Famciclovir(DB00426)|Felbamate(DB00949)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Finasteride(DB01216)|Fingolimod(DB08868)|Flucloxacillin(DB00301)|Fluconazole(DB00196)|Flunisolide(DB00180)|Flunitrazepam(DB01544)|Fluorometholone(DB00324)|Fluoxetine(DB00472)|Flurazepam(DB00690)|Flutamide(DB00499)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosamprenavir(DB01319)|Fosphenytoin(DB01320)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Glipizide(DB01067)|Glyburide(DB01016)|Granisetron(DB00889)|Griseofulvin(DB00400)|Guanethidine(DB01170)|Guanfacine(DB01018)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Hydralazine(DB01275)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|Indacaterol(DB05039)|Indapamide(DB00808)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Irinotecan(DB00762)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ixabepilone(DB04845)|Josamycin(DB01321)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Levomethadyl Acetate(DB01227)|Levomilnacipran(DB08918)|Levonorgestrel(DB00367)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Lisuride(DB00589)|Lomitapide(DB08827)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumefantrine(DB06708)|Lurasidone(DB08815)|MACITENTAN(DB08932)|Maraviroc(DB04835)|Mebendazole(DB00643)|Medroxyprogesterone Acetate(DB00603)|Mefloquine(DB00358)|Meloxicam(DB00814)|Mequitazine(DB01071)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Methylergometrine(DB00353)|Methylprednisolone(DB00959)|Methyltestosterone(DB06710)|Metronidazole(DB00916)|Metyrapone(DB01011)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Mitoxantrone(DB01204)|Modafinil(DB00745)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nafcillin(DB00607)|Naloxone(DB01183)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nitric Oxide(DB00435)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Omeprazole(DB00338)|Ondansetron(DB00904)|Orlistat(DB01083)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paramethasone(DB01384)|Paricalcitol(DB00910)|Pazopanib(DB06589)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perampanel(DB08883)|Pergolide(DB01186)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenoxybenzamine(DB00925)|Phenprocoumon(DB00946)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pilocarpine(DB01085)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Prazepam(DB01588)|Praziquantel(DB01058)|Prednisolone(DB00860)|Prednisone(DB00635)|Primaquine(DB01087)|Primidone(DB00794)|Probenecid(DB01032)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Pyridostigmine(DB00545)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Quinupristin(DB01369)|Rabeprazole(DB01129)|Raloxifene(DB00481)|Ramelteon(DB00980)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Regorafenib(DB08896)|Repaglinide(DB00912)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rifapentine(DB01201)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Rimonabant(DB06155)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rivastigmine(DB00989)|Rolitetracycline(DB01301)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosuvastatin(DB01098)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Rufinamide(DB06201)|Ruxolitinib(DB08877)|Salbutamol(DB01001)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sevoflurane(DB01236)|Sibutramine(DB01105)|Sildenafil(DB00203)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Sitaxentan(DB06268)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sufentanil(DB00708)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfanilamide(DB00259)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tasosartan(DB01349)|Telaprevir(DB05521)|Telithromycin(DB00976)|Temazepam(DB00231)|Temozolomide(DB00853)|Temsirolimus(DB06287)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Thiopental(DB00599)|Thiotepa(DB04572)|Tiagabine(DB00906)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tioconazole(DB01007)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tofisopam(DB08811)|Tolterodine(DB01036)|Tolvaptan(DB06212)|Topiramate(DB00273)|Topotecan(DB01030)|Toremifene(DB00539)|Trabectedin(DB05109)|Tramadol(DB00193)|Trametinib(DB08911)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Tretinoin(DB00755)|Triamcinolone(DB00620)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vandetanib(DB05294)|Vardenafil(DB00862)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Zidovudine(DB00495)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)|Zopiclone(DB01198)	CTTTGGGTCACGGTGAAGAGC	0.507																																						uc003urv.2																			0				breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						c.(1207-1209)cGt>cAt		Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA.	Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)						221.0	201.0	208.0					7																	99359709		2203	4300	6503	SO:0001583	missense	1576				alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity	g.chr7:99359709C>T	AF280107	CCDS5674.1	7q21.1	2011-06-21	2003-01-14		ENSG00000160868	ENSG00000160868	1.1.1.161	"""Cytochrome P450s"""	2637	protein-coding gene	gene with protein product		124010	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4"""	CYP3A3		8269949, 1391968	Standard	NM_001202855		Approved		uc003urv.2	P08684	OTTHUMG00000156651	ENST00000336411.2:c.1208G>A	7.37:g.99359709C>T	ENSP00000337915:p.Arg403His					CYP3A4_uc003urw.2_Missense_Mutation_p.R402H|CYP3A4_uc011kiz.2_Missense_Mutation_p.R362H	p.R403H	NM_017460	NP_059488	P08684	CP3A4_HUMAN			10	1315	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		403					P05184|Q16757|Q9UK50	Missense_Mutation	SNP	ENST00000336411.2	37	c.1208G>A	CCDS5674.1	.	.	.	.	.	.	.	.	.	.	c	0.010	-1.789964	0.00623	.	.	ENSG00000160868	ENST00000354593;ENST00000336411	T;T	0.72942	-0.7;-0.7	4.35	-2.46	0.06461	.	0.723568	0.12523	N	0.461500	T	0.43144	0.1234	N	0.16037	0.36	0.09310	N	1	B;B;B;B;B	0.17038	0.02;0.004;0.009;0.009;0.009	B;B;B;B;B	0.19148	0.024;0.016;0.016;0.016;0.016	T	0.32561	-0.9902	10	0.07325	T	0.83	.	6.0636	0.19852	0.1217:0.4584:0.0:0.42	.	253;330;403;403;403	E7EVM8;Q7Z448;Q6GRK0;Q86SK3;P08684	.;.;.;.;CP3A4_HUMAN	H	253;403	ENSP00000346607:R253H;ENSP00000337915:R403H	ENSP00000337915:R403H	R	-	2	0	CYP3A4	99197645	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.140000	0.03210	-1.178000	0.02741	-1.318000	0.01297	CGT		0.507	CYP3A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345059.1		
ACHE	43	broad.mit.edu	37	7	100490909	100490909	+	Silent	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr7:100490909G>A	ENST00000412389.1	-	1	1100	c.945C>T	c.(943-945)caC>caT	p.H315H	ACHE_ENST00000428317.1_Silent_p.H315H|ACHE_ENST00000302913.4_Silent_p.H315H|ACHE_ENST00000497647.1_5'Flank|ACHE_ENST00000419336.2_Silent_p.H315H|ACHE_ENST00000411582.1_Silent_p.H315H|ACHE_ENST00000241069.5_Silent_p.H315H			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	315					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	CGTGCCATTCGTGGTTCACCA	0.607																																						uc003uxd.3																			0				large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16						c.(943-945)caC>caT		Homo sapiens acetylcholinesterase (ACHE), transcript variant E4-E6, mRNA.	Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)						99.0	73.0	82.0					7																	100490909		2203	4300	6503	SO:0001819	synonymous_variant	43				acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity	g.chr7:100490909G>A		CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"""Blood group antigens"""	108	protein-coding gene	gene with protein product	"""Yt blood group"""	100740	"""acetylcholinesterase (YT blood group)"", ""acetylcholinesterase (Yt blood group)"", ""acetylcholinesterase"""	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.945C>T	7.37:g.100490909G>A						ACHE_uc003uxe.3_Silent_p.H315H|ACHE_uc003uxf.3_Silent_p.H315H|ACHE_uc003uxg.3_Silent_p.H315H|ACHE_uc003uxh.3_Silent_p.H315H|ACHE_uc003uxi.3_Silent_p.H315H|ACHE_uc003uxj.1_Silent_p.H434H	p.H315H	NM_000665	NP_000656	P22303	ACES_HUMAN			0	1101	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		315					A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Silent	SNP	ENST00000412389.1	37	c.945C>T	CCDS5709.1																																																																																				0.607	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1	NM_015831	
MUC17	140453	broad.mit.edu	37	7	100692247	100692247	+	Silent	SNP	G	G	A	rs200175178		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr7:100692247G>A	ENST00000306151.4	+	5	12721	c.12657G>A	c.(12655-12657)acG>acA	p.T4219T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4219	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGACATTCACGGAACAGGTAA	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		18356	0.001		0.0	False		,,,				2504	0.0					uc003uxp.1																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(12655-12657)acG>acA		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	74.0	66.0	68.0		12657	-8.8	0.0	7		68	0,8600		0,0,4300	no	coding-synonymous	MUC17	NM_001040105.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		4219/4494	100692247	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100692247G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.12657G>A	7.37:g.100692247G>A						MUC17_uc010lho.1_Non-coding_Transcript	p.T4219T	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			4	12710	+	Lung NSC(181;0.136)|all_lung(186;0.182)		4219			SEA.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.12657G>A	CCDS34711.1																																																																																				0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
EPHB6	2051	broad.mit.edu	37	7	142561409	142561409	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr7:142561409G>A	ENST00000392957.2	+	6	908	c.121G>A	c.(121-123)Gga>Aga	p.G41R	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Missense_Mutation_p.G41R	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	41	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGACACCACCGGAGAGACATC	0.597																																						uc011kst.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(121-123)Gga>Aga		Homo sapiens EPH receptor B6 (EPHB6), mRNA.							77.0	75.0	76.0					7																	142561409		2203	4300	6503	SO:0001583	missense	2051					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142561409G>A	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.121G>A	7.37:g.142561409G>A	ENSP00000376684:p.Gly41Arg					EPHB6_uc011ksu.2_Missense_Mutation_p.G41R|EPHB6_uc003wbs.3_Intron|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_Intron	p.G41R	NM_004445	NP_004436	O15197	EPHB6_HUMAN			5	908	+	Melanoma(164;0.059)		41					A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	c.121G>A	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	G	14.61	2.585542	0.46110	.	.	ENSG00000106123	ENST00000392957;ENST00000442129	T;T	0.03468	3.92;3.92	5.35	5.35	0.76521	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.43579	D	0.000552	T	0.09818	0.0241	L	0.41710	1.295	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.20706	-1.0267	10	0.31617	T	0.26	.	10.4381	0.44448	0.0:0.1436:0.7079:0.1485	.	41	O15197	EPHB6_HUMAN	R	41	ENSP00000376684:G41R;ENSP00000410789:G41R	ENSP00000376684:G41R	G	+	1	0	EPHB6	142271531	0.946000	0.32159	0.968000	0.41197	0.982000	0.71751	1.592000	0.36676	2.506000	0.84524	0.557000	0.71058	GGA		0.597	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1		
OR2A12	346525	broad.mit.edu	37	7	143792982	143792982	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr7:143792982C>A	ENST00000408949.2	+	1	842	c.782C>A	c.(781-783)cCc>cAc	p.P261H		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TACATGGCCCCCAAGTCAAGC	0.547																																						uc011kty.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25						c.(781-783)cCc>cAc		Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.							159.0	154.0	155.0					7																	143792982		1910	4138	6048	SO:0001583	missense	346525				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143792982C>A		CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"""GPCR / Class A : Olfactory receptors"""	15082	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 12 pseudogene"""	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.782C>A	7.37:g.143792982C>A	ENSP00000386174:p.Pro261His						p.P261H	NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN			0	782	+	Melanoma(164;0.0783)		261					Q6IF43	Missense_Mutation	SNP	ENST00000408949.2	37	c.782C>A	CCDS43670.1	.	.	.	.	.	.	.	.	.	.	C	9.933	1.215430	0.22373	.	.	ENSG00000221858	ENST00000408949	T	0.00272	8.36	4.33	2.53	0.30540	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00784	0.0026	M	0.91090	3.175	0.09310	N	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.35025	-0.9805	9	0.87932	D	0	-27.9967	8.6269	0.33895	0.0:0.8091:0.0:0.1909	.	261	Q8NGT7	O2A12_HUMAN	H	261	ENSP00000386174:P261H	ENSP00000386174:P261H	P	+	2	0	OR2A12	143423915	0.001000	0.12720	0.023000	0.16930	0.004000	0.04260	0.678000	0.25277	0.473000	0.27368	0.505000	0.49811	CCC		0.547	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1		
DLC1	10395	broad.mit.edu	37	8	12952344	12952344	+	Silent	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr8:12952344C>T	ENST00000276297.4	-	12	3859	c.3450G>A	c.(3448-3450)ctG>ctA	p.L1150L	DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000520226.1_Silent_p.L639L|DLC1_ENST00000358919.2_Silent_p.L713L|DLC1_ENST00000512044.2_Silent_p.L747L	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1150	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AATACTGCTTCAGCATGTCTG	0.468																																						uc003wwm.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(3448-3450)ctG>ctA		Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.							102.0	96.0	98.0					8																	12952344		2203	4300	6503	SO:0001819	synonymous_variant	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12952344C>T	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.3450G>A	8.37:g.12952344C>T						DLC1_uc003wwk.1_Silent_p.L713L|DLC1_uc003wwl.1_Silent_p.L747L|DLC1_uc011kxx.1_Silent_p.L639L	p.L1150L	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN			11	3894	-			1150			Rho-GAP.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	c.3450G>A	CCDS5989.1																																																																																				0.468	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094	
TUSC3	7991	broad.mit.edu	37	8	15531274	15531274	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr8:15531274A>G	ENST00000503731.1	+	6	875	c.727A>G	c.(727-729)Act>Gct	p.T243A	TUSC3_ENST00000509380.1_Missense_Mutation_p.T243A|TUSC3_ENST00000382020.4_Missense_Mutation_p.T243A|TUSC3_ENST00000506802.1_Missense_Mutation_p.T243A|TUSC3_ENST00000503191.1_3'UTR	NM_006765.3	NP_006756.2	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	243					cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		CTTTGCTATGACTTCTGGCCA	0.383																																						uc003wwt.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28						c.(727-729)Act>Gct		Homo sapiens tumor suppressor candidate 3 (TUSC3), transcript variant 1, mRNA.							162.0	134.0	144.0					8																	15531274		2203	4300	6503	SO:0001583	missense	7991				cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		g.chr8:15531274A>G	AK026149	CCDS5993.1, CCDS5994.1	8p22	2010-10-22			ENSG00000104723	ENSG00000104723			30242	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog A (S. cerevisiae)"""	601385				8661104, 10097140	Standard	NM_178234		Approved	MGC13453, N33, OST3A, MRT7	uc003wwt.3	Q13454	OTTHUMG00000094803	ENST00000503731.1:c.727A>G	8.37:g.15531274A>G	ENSP00000424544:p.Thr243Ala					TUSC3_uc003wwu.3_Missense_Mutation_p.T243A	p.T243A	NM_006765	NP_006756	Q13454	TUSC3_HUMAN		Colorectal(111;0.113)	5	1071	+			243					A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0	Missense_Mutation	SNP	ENST00000503731.1	37	c.727A>G	CCDS5994.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.496231	0.85069	.	.	ENSG00000104723	ENST00000382020;ENST00000506802;ENST00000509380;ENST00000503731	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.87390	0.6165	M	0.81802	2.56	0.49299	D	0.999773	P;D;D;D;D;D	0.69078	0.932;0.997;0.974;0.974;0.997;0.997	D;D;D;P;D;D	0.79108	0.926;0.973;0.969;0.771;0.973;0.992	D	0.87559	0.2470	10	0.44086	T	0.13	-24.5179	13.5247	0.61589	1.0:0.0:0.0:0.0	.	243;243;243;243;243;243	D6RDV0;D6RIY7;Q13454-2;Q13454;D6RA37;A8MSM0	.;.;.;TUSC3_HUMAN;.;.	A	243	ENSP00000371450:T243A;ENSP00000425777:T243A;ENSP00000423426:T243A;ENSP00000424544:T243A	ENSP00000221167:T243A	T	+	1	0	TUSC3	15575645	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.474000	0.90413	2.234000	0.73211	0.533000	0.62120	ACT		0.383	TUSC3-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365367.1	NM_006765	
BMP1	649	broad.mit.edu	37	8	22020640	22020640	+	5'Flank	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr8:22020640C>T	ENST00000306385.5	+	0	0				BMP1_ENST00000397814.3_5'Flank|SFTPC_ENST00000437090.2_Silent_p.A83A|BMP1_ENST00000306349.8_5'Flank|SFTPC_ENST00000522109.1_Silent_p.A83A|SFTPC_ENST00000521315.1_Silent_p.A83A|SFTPC_ENST00000520605.1_Silent_p.A30A|BMP1_ENST00000354870.5_5'Flank|SFTPC_ENST00000318561.3_Silent_p.A83A|SFTPC_ENST00000524255.1_Silent_p.A30A|BMP1_ENST00000397816.3_5'Flank	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		AACGCCTGGCCCTGAGTGAGC	0.617																																						uc003xaw.4																			0				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3						c.(394-396)gcC>gcT		Homo sapiens surfactant protein C (SFTPC), transcript variant 3, mRNA.							88.0	99.0	96.0					8																	22020640		2111	4220	6331	SO:0001631	upstream_gene_variant	6440				respiratory gaseous exchange	extracellular space		g.chr8:22020640C>T		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761		8.37:g.22020640C>T	Exception_encountered					SFTPC_uc003xax.4_Silent_p.A83A|SFTPC_uc003xay.4_Silent_p.A83A|SFTPC_uc003xaz.3_Silent_p.A83A|SFTPC_uc011kza.1_Silent_p.A83A|SFTPC_uc022asz.1_5'Flank|BMP1_uc011kzb.2_5'Flank|BMP1_uc003xbf.3_5'Flank|BMP1_uc003xbb.3_5'Flank|BMP1_uc003xbc.3_5'Flank|BMP1_uc003xbd.3_5'Flank|BMP1_uc003xbe.3_5'Flank|BMP1_uc011kzc.2_5'Flank|BMP1_uc003xbg.3_5'Flank|BMP1_uc003xbh.3_5'Flank|BMP1_uc003xbi.3_5'Flank	p.A132A	NM_001172357	NP_001165828	P11686	PSPC_HUMAN		Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	5	1099	+			83			BRICHOS.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Silent	SNP	ENST00000306385.5	37	c.396C>T	CCDS6026.1																																																																																				0.617	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132	
ADAMDEC1	27299	broad.mit.edu	37	8	24256489	24256489	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr8:24256489A>G	ENST00000256412.4	+	9	1085	c.865A>G	c.(865-867)Aac>Gac	p.N289D	ADAMDEC1_ENST00000538205.1_Missense_Mutation_p.N210D|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.N210D	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	289	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CACGTTTGACAACTTCCTGAG	0.488																																					Ovarian(147;687 1849 3699 25981 31337)	uc003xdz.2																			0				NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9						c.(865-867)Aac>Gac		Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.							115.0	103.0	107.0					8																	24256489		2203	4300	6503	SO:0001583	missense	27299				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:24256489A>G	Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.865A>G	8.37:g.24256489A>G	ENSP00000256412:p.Asn289Asp					ADAMDEC1_uc010lub.2_Missense_Mutation_p.N210D|ADAMDEC1_uc011lab.1_Missense_Mutation_p.N210D	p.N289D	NM_014479	NP_001138744	O15204	ADEC1_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)	8	1085	+		Prostate(55;0.0181)	289			Peptidase M12B.		B7ZAK5	Missense_Mutation	SNP	ENST00000256412.4	37	c.865A>G	CCDS6044.1	.	.	.	.	.	.	.	.	.	.	A	8.808	0.934516	0.18206	.	.	ENSG00000134028	ENST00000256412;ENST00000538205;ENST00000522298	T;T;T	0.63580	-0.05;-0.05;-0.05	5.88	3.42	0.39159	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.545614	0.18993	N	0.125549	T	0.72953	0.3525	M	0.69185	2.1	0.09310	N	1	P	0.46952	0.887	P	0.60609	0.877	T	0.63314	-0.6665	10	0.54805	T	0.06	-15.5669	10.4288	0.44395	0.6865:0.3135:0.0:0.0	.	289	O15204	ADEC1_HUMAN	D	289;210;210	ENSP00000256412:N289D;ENSP00000442592:N210D;ENSP00000428993:N210D	ENSP00000256412:N289D	N	+	1	0	ADAMDEC1	24312434	0.000000	0.05858	0.053000	0.19242	0.014000	0.08584	0.970000	0.29383	0.436000	0.26393	-0.316000	0.08728	AAC		0.488	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215149.2	NM_014479	
JAK2	3717	broad.mit.edu	37	9	5080558	5080558	+	Missense_Mutation	SNP	A	A	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr9:5080558A>T	ENST00000381652.3	+	18	2803	c.2309A>T	c.(2308-2310)cAt>cTt	p.H770L	JAK2_ENST00000539801.1_Missense_Mutation_p.H770L|AL161450.1_ENST00000601793.1_Intron|JAK2_ENST00000544510.1_Missense_Mutation_p.H621L	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	770	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	GAAGATAGGCATCAGCTTCCT	0.358		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																													uc010mhm.3		1		Dom	yes		9	9p24	3717	"""T, Mis, O"""	Janus kinase 2			L	"""ETV6, PCM1, BCR"""		"""ALL, AML, MPD,  CML"""	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998						c.(2308-2310)cAt>cTt		Homo sapiens Janus kinase 2 (JAK2), mRNA.							69.0	73.0	72.0					9																	5080558		2203	4300	6503	SO:0001583	missense	3717	Polycythemia Vera, Familial	Familial Cancer Database		actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	g.chr9:5080558A>T		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.2309A>T	9.37:g.5080558A>T	ENSP00000371067:p.His770Leu					JAK2_uc003ziw.3_Missense_Mutation_p.H770L	p.H770L	NM_004972	NP_004963	O60674	JAK2_HUMAN		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	16	2422	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	770			Protein kinase 1.		O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	c.2309A>T	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	A	16.23	3.064129	0.55432	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	D;D;D	0.82167	-1.58;-1.58;-1.58	5.95	5.95	0.96441	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73799	0.3633	N	0.17872	0.535	0.80722	D	1	B	0.26400	0.148	B	0.32724	0.151	T	0.69053	-0.5247	10	0.10902	T	0.67	-14.6698	16.4323	0.83853	1.0:0.0:0.0:0.0	.	770	O60674	JAK2_HUMAN	L	770;770;621	ENSP00000440387:H770L;ENSP00000371067:H770L;ENSP00000443103:H621L	ENSP00000371067:H770L	H	+	2	0	JAK2	5070558	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.830000	0.69324	2.281000	0.76405	0.528000	0.53228	CAT		0.358	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1		
FAM120A	23196	broad.mit.edu	37	9	96289441	96289441	+	Missense_Mutation	SNP	A	A	C			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr9:96289441A>C	ENST00000277165.6	+	8	1617	c.1423A>C	c.(1423-1425)Atc>Ctc	p.I475L	FAM120A_ENST00000340893.4_Missense_Mutation_p.I475L|FAM120A_ENST00000333936.5_Missense_Mutation_p.I503L|FAM120A_ENST00000375389.3_Missense_Mutation_p.I475L	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	475						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTTTAGCCATATCAGCGGGAA	0.463																																						uc004atw.3																			0				endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1423-1425)Atc>Ctc		Homo sapiens family with sequence similarity 120A (FAM120A), mRNA.							72.0	73.0	73.0					9																	96289441		2203	4300	6503	SO:0001583	missense	23196					cytoplasm|plasma membrane	RNA binding	g.chr9:96289441A>C	AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.1423A>C	9.37:g.96289441A>C	ENSP00000277165:p.Ile475Leu					FAM120A_uc004atv.3_Missense_Mutation_p.I475L|FAM120A_uc004atx.3_Missense_Mutation_p.I257L|FAM120A_uc004aty.3_Missense_Mutation_p.I256L|FAM120A_uc004atz.3_Missense_Mutation_p.I124L|FAM120A_uc010mrf.1_Non-coding_Transcript	p.I475L	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN			7	1448	+			475					A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP	ENST00000277165.6	37	c.1423A>C	CCDS6706.1	.	.	.	.	.	.	.	.	.	.	A	15.43	2.830802	0.50845	.	.	ENSG00000048828	ENST00000375389;ENST00000277165;ENST00000333936;ENST00000340893	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.74	2.12	0.27331	.	0.177448	0.38605	N	0.001625	T	0.23210	0.0561	N	0.11560	0.145	0.29699	N	0.840357	B;B;B;B;B	0.19583	0.006;0.0;0.006;0.006;0.037	B;B;B;B;B	0.21151	0.014;0.001;0.006;0.008;0.033	T	0.14035	-1.0487	10	0.21014	T	0.42	-9.9289	6.3829	0.21544	0.4404:0.0:0.5596:0.0	.	475;503;475;475;475	Q9NZB2-4;Q9NZB2-6;Q9NZB2-5;Q9NZB2;Q9NZB2-2	.;.;.;F120A_HUMAN;.	L	475;475;503;475	ENSP00000364538:I475L;ENSP00000277165:I475L;ENSP00000334918:I503L;ENSP00000344698:I475L	ENSP00000277165:I475L	I	+	1	0	FAM120A	95329262	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	1.086000	0.30853	0.459000	0.27016	0.482000	0.46254	ATC		0.463	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612	
ZNF169	169841	broad.mit.edu	37	9	97063382	97063382	+	Silent	SNP	C	C	T	rs200105094		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr9:97063382C>T	ENST00000395395.2	+	5	1632	c.1542C>T	c.(1540-1542)taC>taT	p.Y514Y	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	514					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				AGGAGCTTTACGTAGACAGGG	0.537													T|||	1	0.000199681	0.0	0.0	5008	,	,		23412	0.0		0.001	False		,,,				2504	0.0					uc022bki.1																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1543-1545)taC>taT		Homo sapiens zinc finger protein 169 (ZNF169), mRNA.		T		1,4405	826.1+/-416.6	0,1,2202	97.0	88.0	91.0		1542	-1.1	0.0	9		91	0,8600		0,0,4300	no	coding-synonymous	ZNF169	NM_194320.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		514/604	97063382	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	169841					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:97063382C>T	U28322	CCDS6709.2	9q22.32	2014-07-30			ENSG00000175787	ENSG00000175787		"""Zinc fingers, C2H2-type"", ""-"""	12957	protein-coding gene	gene with protein product		603404				9186526, 9071574	Standard	NM_001301275		Approved	MGC51961	uc004aum.1	Q14929	OTTHUMG00000020264	ENST00000395395.2:c.1542C>T	9.37:g.97063382C>T						ZNF169_uc004aum.1_Silent_p.Y514Y	p.Y515Y	NM_194320	NP_919301	Q14929	ZN169_HUMAN			3	1600	+		Acute lymphoblastic leukemia(62;0.136)	514					A2AGP5|A8K127|Q6PI28	Silent	SNP	ENST00000395395.2	37	c.1545C>T	CCDS6709.2																																																																																				0.537	ZNF169-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253714.1	NM_194320	
TUBBP5	643224	broad.mit.edu	37	9	141070969	141070969	+	RNA	SNP	A	A	G			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr9:141070969A>G	ENST00000503395.1	+	0	1735									tubulin, beta pseudogene 5									p.A196A(1)									TAGAAAACGCAGATGAGACCT	0.517																																						uc010ncq.3																			1	Substitution - coding silent(1)	p.A196A(1)	endometrium(1)										Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.																																						643224							g.chr9:141070969A>G	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070969A>G														4		+									Silent	SNP	ENST00000503395.1	37																																																																																						0.517	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156	
RAI2	10742	broad.mit.edu	37	X	17819726	17819726	+	Silent	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:17819726G>A	ENST00000545871.1	-	3	865	c.405C>T	c.(403-405)aaC>aaT	p.N135N	RAI2_ENST00000331511.1_Silent_p.N135N|RAI2_ENST00000451717.1_Silent_p.N135N|RAI2_ENST00000415486.3_Silent_p.N85N|RAI2_ENST00000360011.1_Silent_p.N135N	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	135					embryo development (GO:0009790)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					CCAGAGGGGAGTTGAGGTGCT	0.642																																						uc022btm.1																			0		p.N135D(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22						c.(403-405)aaC>aaT		Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA.							62.0	66.0	64.0					X																	17819726		2201	4297	6498	SO:0001819	synonymous_variant	10742				embryo development			g.chrX:17819726G>A	Z93242	CCDS14183.1, CCDS55374.1	Xp22	2008-02-05			ENSG00000131831	ENSG00000131831			9835	protein-coding gene	gene with protein product		300217				10049581, 10394933	Standard	NR_033348		Approved		uc010nfa.3	Q9Y5P3	OTTHUMG00000021209	ENST00000545871.1:c.405C>T	X.37:g.17819726G>A						RAI2_uc004cyf.3_Silent_p.N135N|RAI2_uc004cyg.3_Silent_p.N135N|RAI2_uc011miy.2_Silent_p.N85N|RAI2_uc022btl.1_Silent_p.N135N|RAI2_uc004cyh.4_Silent_p.N135N|RAI2_uc010nfa.3_Silent_p.N135N	p.N135N	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN			0	405	-	Hepatocellular(33;0.183)		135					B1B1K2|B4DQM9|E7EMN4|Q8N6X7	Silent	SNP	ENST00000545871.1	37	c.405C>T	CCDS14183.1																																																																																				0.642	RAI2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055937.1	NM_021785	
ACOT9	23597	broad.mit.edu	37	X	23731303	23731303	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:23731303G>T	ENST00000336430.7	-	8	715	c.584C>A	c.(583-585)cCt>cAt	p.P195H	ACOT9_ENST00000379295.1_Missense_Mutation_p.P135H|ACOT9_ENST00000379303.5_Missense_Mutation_p.P204H|ACOT9_ENST00000492081.1_Intron	NM_001033583.2	NP_001028755.2	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	195					acyl-CoA metabolic process (GO:0006637)	mitochondrion (GO:0005739)	acetyl-CoA hydrolase activity (GO:0003986)|carboxylic ester hydrolase activity (GO:0052689)			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						ATCCAAAACAGGACAAAATTC	0.328																																						uc004dao.3																			0		p.V204M(1)		breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						c.(610-612)cCt>cAt		Homo sapiens acyl-CoA thioesterase 9 (ACOT9), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							79.0	68.0	72.0					X																	23731303		2203	4300	6503	SO:0001583	missense	23597				acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity	g.chrX:23731303G>T	AF132950	CCDS35216.1, CCDS43924.1	Xp22.11	2008-02-05			ENSG00000123130	ENSG00000123130		"""Acyl CoA thioesterases"""	17152	protein-coding gene	gene with protein product		300862				10383425, 10810093, 16103133, 16940157	Standard	XM_005274471		Approved	CGI-16, MT-ACT48, ACATE2	uc004dao.3	Q9Y305	OTTHUMG00000021257	ENST00000336430.7:c.584C>A	X.37:g.23731303G>T	ENSP00000336580:p.Pro195His					ACOT9_uc004dap.3_Missense_Mutation_p.P195H|ACOT9_uc011mjt.2_Intron|ACOT9_uc004dar.3_Missense_Mutation_p.P135H|ACOT9_uc004dat.1_Missense_Mutation_p.P195H	p.P204H	NM_001037171	NP_001032248	Q9Y305	ACOT9_HUMAN			8	757	-			195					B3KNC9|B7ZM94	Missense_Mutation	SNP	ENST00000336430.7	37	c.611C>A	CCDS35216.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.299683	0.40694	.	.	ENSG00000123130	ENST00000379303;ENST00000336430;ENST00000379295;ENST00000473710	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	4.82	3.9	0.45041	.	0.151759	0.64402	D	0.000012	T	0.28333	0.0700	L	0.55103	1.725	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.003	T	0.07770	-1.0755	10	0.19147	T	0.46	-14.4972	14.2076	0.65744	0.0:0.0:0.8508:0.1492	.	162;195;204	Q9Y305-2;Q9Y305;Q9Y305-4	.;ACOT9_HUMAN;.	H	204;195;135;121	ENSP00000368605:P204H;ENSP00000336580:P195H;ENSP00000368597:P135H;ENSP00000420490:P121H	ENSP00000336580:P195H	P	-	2	0	ACOT9	23641224	1.000000	0.71417	0.993000	0.49108	0.981000	0.71138	4.874000	0.63064	2.134000	0.65973	0.525000	0.51046	CCT		0.328	ACOT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056065.1	NM_012332	
FAM47C	442444	broad.mit.edu	37	X	37027694	37027694	+	Missense_Mutation	SNP	C	C	T	rs373282135		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:37027694C>T	ENST00000358047.3	+	1	1263	c.1211C>T	c.(1210-1212)cCg>cTg	p.P404L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	404										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCTCTCTTCCCGGAGCCTCCC	0.607													N|||	1	0.000264901	0.0008	0.0	3775	,	,		13081	0.0		0.0	False		,,,				2504	0.0					uc004ddl.2																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1210-1212)cCg>cTg		Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.		C	LEU/PRO	3,3830		0,3,1628,571	53.0	55.0	54.0		1211	-1.1	0.0	X		54	0,6728		0,0,2428,1872	no	missense	FAM47C	NM_001013736.2	98	0,3,4056,2443	TT,TC,CC,C		0.0,0.0783,0.0284	probably-damaging	404/1036	37027694	3,10558	2202	4300	6502	SO:0001583	missense	442444							g.chrX:37027694C>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1211C>T	X.37:g.37027694C>T	ENSP00000367913:p.Pro404Leu						p.P404L	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			0	1263	+			404					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1211C>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	c	5.174	0.217627	0.09810	7.83E-4	0.0	ENSG00000198173	ENST00000358047	T	0.22743	1.94	0.53	-1.06	0.10002	.	.	.	.	.	T	0.28234	0.0697	L	0.48877	1.53	0.09310	N	1	D	0.76494	0.999	D	0.63381	0.914	T	0.22591	-1.0212	9	0.54805	T	0.06	.	2.6613	0.05027	0.2624:0.4959:0.0:0.2417	.	404	Q5HY64	FA47C_HUMAN	L	404	ENSP00000367913:P404L	ENSP00000367913:P404L	P	+	2	0	FAM47C	36937615	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	0.484000	0.22308	-1.804000	0.01241	-1.097000	0.02148	CCG		0.607	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736	
SYN1	6853	broad.mit.edu	37	X	47478794	47478794	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:47478794C>G	ENST00000295987.7	-	1	458	c.334G>C	c.(334-336)Gcc>Ccc	p.A112P	SYN1_ENST00000340666.4_Missense_Mutation_p.A112P	NM_006950.3	NP_008881.2	P17600	SYN1_HUMAN	synapsin I	112	B; linker.				neurotransmitter secretion (GO:0007269)|regulation of neurotransmitter secretion (GO:0046928)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						ACCCTGGAGGCGGCTCCCCCG	0.716																																						uc004die.3																			0		p.A111A(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						c.(334-336)Gcc>Ccc		Homo sapiens synapsin I (SYN1), transcript variant Ia, mRNA.							5.0	7.0	6.0					X																	47478794		1763	3588	5351	SO:0001583	missense	6853					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity	g.chrX:47478794C>G		CCDS14280.1, CCDS35233.1	Xp11.2	2012-10-02			ENSG00000008056	ENSG00000008056			11494	protein-coding gene	gene with protein product		313440					Standard	NM_133499		Approved		uc004die.3	P17600	OTTHUMG00000021454	ENST00000295987.7:c.334G>C	X.37:g.47478794C>G	ENSP00000295987:p.Ala112Pro					SYN1_uc004did.3_Missense_Mutation_p.A112P	p.A112P	NM_006950	NP_008881	P17600	SYN1_HUMAN			0	463	-			112			B; linker.		B1AJQ1|O75825|Q5H9A9	Missense_Mutation	SNP	ENST00000295987.7	37	c.334G>C	CCDS14280.1	.	.	.	.	.	.	.	.	.	.	c	11.69	1.713745	0.30413	.	.	ENSG00000008056	ENST00000295987;ENST00000340666	T;T	0.30981	1.93;1.51	2.6	2.6	0.31112	PreATP-grasp-like fold (1);	0.314427	0.29355	N	0.012386	T	0.17195	0.0413	N	0.08118	0	0.28666	N	0.905852	P;D	0.54207	0.882;0.965	B;P	0.48227	0.212;0.571	T	0.03077	-1.1075	10	0.48119	T	0.1	.	4.854	0.13550	0.0:0.8229:0.0:0.1771	.	112;112	P17600;P17600-2	SYN1_HUMAN;.	P	112	ENSP00000295987:A112P;ENSP00000343206:A112P	ENSP00000295987:A112P	A	-	1	0	SYN1	47363738	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	1.120000	0.31271	1.595000	0.50050	0.458000	0.33432	GCC		0.716	SYN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056445.1	NM_006950	
ZNF182	7569	broad.mit.edu	37	X	47836621	47836621	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:47836621G>A	ENST00000396965.1	-	7	1215	c.865C>T	c.(865-867)Ccc>Tcc	p.P289S	ZNF182_ENST00000305127.6_Missense_Mutation_p.P289S|ZNF182_ENST00000376943.3_Missense_Mutation_p.P270S	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	289					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						CACTCAAAGGGTCTCTCTCCT	0.403																																						uc004dir.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						c.(865-867)Ccc>Tcc		Homo sapiens zinc finger protein 182 (ZNF182), transcript variant 1, mRNA.							82.0	73.0	76.0					X																	47836621		2203	4300	6503	SO:0001583	missense	7569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47836621G>A	AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"""Zinc fingers, C2H2-type"", ""-"""	13001	protein-coding gene	gene with protein product		314993	"""zinc finger protein 182 (HHZ150)"", ""zinc finger protein 21 (KOX 14)"""	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.865C>T	X.37:g.47836621G>A	ENSP00000380165:p.Pro289Ser					ZNF182_uc004dis.3_Missense_Mutation_p.P270S|ZNF182_uc004dit.3_Missense_Mutation_p.P289S	p.P289S	NM_006962	NP_008893	P17025	ZN182_HUMAN			6	1211	-			289					A2IDD7|Q3KP67|Q96QH7	Missense_Mutation	SNP	ENST00000396965.1	37	c.865C>T	CCDS35236.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316009	0.60524	.	.	ENSG00000147118	ENST00000376943;ENST00000396965;ENST00000305127	T;T;T	0.28454	1.61;1.61;1.61	4.53	3.67	0.42095	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45357	0.1338	L	0.46885	1.475	0.42178	D	0.991674	D;P;D	0.89917	1.0;0.891;0.981	D;P;P	0.87578	0.998;0.668;0.495	T	0.40308	-0.9570	9	0.72032	D	0.01	.	9.7442	0.40437	0.1047:0.0:0.8953:0.0	.	269;270;289	B4DRM0;Q96QH7;P17025	.;.;ZN182_HUMAN	S	270;289;289	ENSP00000366142:P270S;ENSP00000380165:P289S;ENSP00000306351:P289S	ENSP00000306351:P289S	P	-	1	0	ZNF182	47721565	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.486000	0.81215	1.044000	0.40200	0.594000	0.82650	CCC		0.403	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962	
SMC1A	8243	broad.mit.edu	37	X	53439849	53439849	+	Splice_Site	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:53439849C>T	ENST00000322213.4	-	5	982		c.e5+1		SMC1A_ENST00000375340.6_Intron	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A						DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CTGCCTCTTACTTGAtctcct	0.502																																						uc004dsg.3																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						c.e5+1		Homo sapiens structural maintenance of chromosomes 1A (SMC1A), mRNA.							142.0	122.0	129.0					X																	53439849		2203	4300	6503	SO:0001630	splice_region_variant	8243				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	g.chrX:53439849C>T	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.854+1G>A	X.37:g.53439849C>T						SMC1A_uc011moe.2_Splice_Site_p.K263_splice|SMC1A_uc011mof.2_Intron	p.K285_splice	NM_006306	NP_006297	Q14683	SMC1A_HUMAN			5	923	-			285					O14995|Q16351|Q2M228	Splice_Site	SNP	ENST00000322213.4	37	c.854_splice	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093054	0.56075	.	.	ENSG00000072501	ENST00000322213	.	.	.	4.0	4.0	0.46444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8687	0.70437	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SMC1A	53456574	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	7.234000	0.78134	1.941000	0.56285	0.436000	0.28706	.		0.502	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306	Intron
P2RY10	27334	broad.mit.edu	37	X	78216911	78216911	+	Silent	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:78216911C>T	ENST00000171757.2	+	4	1174	c.894C>T	c.(892-894)tgC>tgT	p.C298C	P2RY10_ENST00000544091.1_Silent_p.C298C	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						GTCTCTGCTGCCTTTTGGATC	0.483																																						uc022bzl.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						c.(892-894)tgC>tgT		Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 2, mRNA.							207.0	191.0	197.0					X																	78216911		2203	4300	6503	SO:0001819	synonymous_variant	27334					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78216911C>T	AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.894C>T	X.37:g.78216911C>T						P2RY10_uc004ede.3_Silent_p.C298C|P2RY10_uc004edf.3_Silent_p.C298C	p.C298C	NM_198333	NP_938147	O00398	P2Y10_HUMAN			0	894	+			298					D3DTE5|Q4VBN7|Q86V16	Silent	SNP	ENST00000171757.2	37	c.894C>T	CCDS14442.1																																																																																				0.483	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1		
PABPC5	140886	broad.mit.edu	37	X	90690820	90690820	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:90690820G>T	ENST00000312600.3	+	2	458	c.244G>T	c.(244-246)Gat>Tat	p.D82Y	PABPC5_ENST00000373105.1_Intron|PABPC5-AS1_ENST00000456187.1_RNA	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	82	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CATGAATTTTGATTTGATTAA	0.483																																						uc022bzs.1																			0		p.F81L(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						c.(244-246)Gat>Tat		Homo sapiens poly(A) binding protein, cytoplasmic 5 (PABPC5), mRNA.							41.0	35.0	37.0					X																	90690820		2203	4300	6503	SO:0001583	missense	140886					cytoplasm	nucleotide binding|RNA binding	g.chrX:90690820G>T	AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.244G>T	X.37:g.90690820G>T	ENSP00000308012:p.Asp82Tyr					PABPC5_uc004efg.3_Missense_Mutation_p.D82Y	p.D82Y	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN			0	244	+			82			RRM 1.		A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	ENST00000312600.3	37	c.244G>T	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.589933	0.46214	.	.	ENSG00000174740	ENST00000312600;ENST00000402906	T	0.15718	2.4	4.43	4.43	0.53597	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.16171	0.0389	N	0.01289	-0.905	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.52403	-0.8580	10	0.87932	D	0	.	13.8905	0.63736	0.0:0.0:1.0:0.0	.	82	Q96DU9	PABP5_HUMAN	Y	82;50	ENSP00000308012:D82Y	ENSP00000308012:D82Y	D	+	1	0	PABPC5	90577476	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.240000	0.95396	2.450000	0.82876	0.600000	0.82982	GAT		0.483	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832	
PABPC5	140886	broad.mit.edu	37	X	90690988	90690988	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:90690988G>A	ENST00000312600.3	+	2	626	c.412G>A	c.(412-414)Gta>Ata	p.V138I	PABPC5_ENST00000373105.1_Intron|PABPC5-AS1_ENST00000456187.1_RNA	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	138	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CTGCAAAGTCGTATGCGATGA	0.453																																						uc022bzs.1																			0				central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						c.(412-414)Gta>Ata		Homo sapiens poly(A) binding protein, cytoplasmic 5 (PABPC5), mRNA.							96.0	85.0	89.0					X																	90690988		2203	4300	6503	SO:0001583	missense	140886					cytoplasm	nucleotide binding|RNA binding	g.chrX:90690988G>A	AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.412G>A	X.37:g.90690988G>A	ENSP00000308012:p.Val138Ile					PABPC5_uc004efg.3_Missense_Mutation_p.V138I	p.V138I	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN			0	412	+			138			RRM 2.		A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	ENST00000312600.3	37	c.412G>A	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.045495	0.55110	.	.	ENSG00000174740	ENST00000312600;ENST00000402906	T	0.17370	2.28	4.43	4.43	0.53597	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.058814	0.64402	D	0.000002	T	0.12944	0.0314	N	0.17901	0.54	0.58432	D	0.999993	P	0.46952	0.887	B	0.41646	0.362	T	0.03555	-1.1025	10	0.66056	D	0.02	.	13.8905	0.63736	0.0:0.0:1.0:0.0	.	138	Q96DU9	PABP5_HUMAN	I	138;106	ENSP00000308012:V138I	ENSP00000308012:V138I	V	+	1	0	PABPC5	90577644	1.000000	0.71417	0.852000	0.33557	0.983000	0.72400	3.659000	0.54489	2.450000	0.82876	0.600000	0.82982	GTA		0.453	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832	
BHLHB9	80823	broad.mit.edu	37	X	102005060	102005060	+	Silent	SNP	T	T	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:102005060T>A	ENST00000372735.1	+	4	1722	c.1137T>A	c.(1135-1137)ccT>ccA	p.P379P	BHLHB9_ENST00000457056.1_Silent_p.P379P|BHLHB9_ENST00000361229.4_Silent_p.P379P|BHLHB9_ENST00000447531.1_Silent_p.P379P|BHLHB9_ENST00000448867.1_Silent_p.P379P			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	379					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TTCCTTCCCCTGAAATGAGAA	0.378																																						uc022cbi.1																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1135-1137)ccT>ccA		Homo sapiens basic helix-loop-helix domain containing, class B, 9 (BHLHB9), transcript variant 2, mRNA.							71.0	62.0	65.0					X																	102005060		2203	4300	6503	SO:0001819	synonymous_variant	80823					cytoplasm|nucleus	binding	g.chrX:102005060T>A	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"""Basic helix-loop-helix proteins"", ""Armadillo repeat containing"""	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.1137T>A	X.37:g.102005060T>A						BHLHB9_uc010nog.3_Silent_p.P379P|BHLHB9_uc011mrq.2_Silent_p.P379P|BHLHB9_uc011mrr.2_Silent_p.P379P|BHLHB9_uc011mrs.2_Silent_p.P379P|BHLHB9_uc011mrt.2_Silent_p.P379P|BHLHB9_uc004ejo.3_Silent_p.P379P|BHLHB9_uc011mru.2_Silent_p.P379P|BHLHB9_uc011mrv.2_Silent_p.P379P	p.P379P	NM_030639	NP_085142	Q6PI77	BHLH9_HUMAN			0	1137	+			379					Q9C0G2	Silent	SNP	ENST00000372735.1	37	c.1137T>A	CCDS14502.1																																																																																				0.378	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639	
AKAP14	158798	broad.mit.edu	37	X	119048716	119048716	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:119048716G>C	ENST00000371431.3	+	5	590	c.316G>C	c.(316-318)Gac>Cac	p.D106H	AKAP14_ENST00000371423.2_Intron|AKAP14_ENST00000334356.2_Intron|AKAP14_ENST00000371425.4_Intron	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14	106					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)				endometrium(4)|large_intestine(1)|lung(8)	13						AGAGAGGAAAGACTTAATTCA	0.408																																						uc004ese.3																			0				endometrium(4)|large_intestine(1)|lung(8)	13						c.(316-318)Gac>Cac		Homo sapiens A kinase (PRKA) anchor protein 14 (AKAP14), transcript variant 1, mRNA.							185.0	155.0	165.0					X																	119048716		2203	4300	6503	SO:0001583	missense	158798					cytoplasm		g.chrX:119048716G>C	AF514780	CCDS14591.1, CCDS35376.1, CCDS35377.1	Xq24	2008-02-05			ENSG00000186471	ENSG00000186471		"""A-kinase anchor proteins"""	24061	protein-coding gene	gene with protein product		300462				12475942	Standard	NM_178813		Approved	AKAP28	uc004ese.3	Q86UN6	OTTHUMG00000022285	ENST00000371431.3:c.316G>C	X.37:g.119048716G>C	ENSP00000360485:p.Asp106His					AKAP14_uc004esf.3_Intron	p.D106H	NM_178813	NP_848928	Q86UN6	AKA28_HUMAN			4	454	+			106					A6NNZ0|Q86UN4|Q86UN5	Missense_Mutation	SNP	ENST00000371431.3	37	c.316G>C	CCDS14591.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.178736	0.57692	.	.	ENSG00000186471	ENST00000371431	.	.	.	4.73	4.73	0.59995	.	0.178473	0.38837	N	0.001542	T	0.77032	0.4071	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.79983	-0.1573	9	0.72032	D	0.01	-22.0467	13.8613	0.63561	0.0:0.0:1.0:0.0	.	106	Q86UN6	AKA28_HUMAN	H	106	.	ENSP00000360485:D106H	D	+	1	0	AKAP14	118932744	0.996000	0.38824	0.123000	0.21794	0.140000	0.21249	3.159000	0.50731	2.093000	0.63338	0.600000	0.82982	GAC		0.408	AKAP14-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058078.1	NM_178813	
DCAF12L2	340578	broad.mit.edu	37	X	125299171	125299171	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:125299171C>T	ENST00000360028.2	-	1	763	c.737G>A	c.(736-738)cGt>cAt	p.R246H	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.R246H			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	246										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						ATCCCTCGGACGGATGTGGGC	0.647																																						uc004euk.2																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(736-738)cGt>cAt		Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.							33.0	36.0	35.0					X																	125299171		2203	4298	6501	SO:0001583	missense	340578							g.chrX:125299171C>T	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.737G>A	X.37:g.125299171C>T	ENSP00000353128:p.Arg246His						p.R246H	NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN			0	910	-			246					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.737G>A	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	C	6.075	0.382091	0.11524	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.18016	2.24;2.24	3.87	-1.21	0.09524	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	1.186280	0.06407	N	0.719915	T	0.12135	0.0295	L	0.43152	1.355	0.09310	N	1	D	0.53151	0.958	B	0.42188	0.379	T	0.23226	-1.0194	10	0.13470	T	0.59	.	3.4268	0.07413	0.189:0.3404:0.0:0.4706	.	246	Q5VW00	DC122_HUMAN	H	246	ENSP00000441489:R246H;ENSP00000353128:R246H	ENSP00000353128:R246H	R	-	2	0	DCAF12L2	125126852	0.264000	0.24093	0.001000	0.08648	0.106000	0.19336	0.473000	0.22132	-0.455000	0.07054	0.544000	0.68410	CGT		0.647	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628	
ZNF449	203523	broad.mit.edu	37	X	134494349	134494349	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:134494349C>G	ENST00000339249.4	+	5	1045	c.905C>G	c.(904-906)tCc>tGc	p.S302C		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	302					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGAGAACTCCAACTTGGAA	0.468																																						uc004eys.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23						c.(904-906)tCc>tGc		Homo sapiens zinc finger protein 449 (ZNF449), mRNA.							57.0	58.0	57.0					X																	134494349		2202	4298	6500	SO:0001583	missense	203523				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134494349C>G	AY280801	CCDS14649.1	Xq26.3	2013-01-09			ENSG00000173275	ENSG00000173275		"""-"", ""Zinc fingers, C2H2-type"""	21039	protein-coding gene	gene with protein product		300627					Standard	NM_152695		Approved	ZSCAN19, FLJ23614	uc004eys.3	Q6P9G9	OTTHUMG00000022478	ENST00000339249.4:c.905C>G	X.37:g.134494349C>G	ENSP00000339585:p.Ser302Cys					ZNF449_uc004eyt.3_Missense_Mutation_p.S182C|ZNF449_uc004eyu.3_Missense_Mutation_p.S108C	p.S302C	NM_152695	NP_689908	Q6P9G9	ZN449_HUMAN			4	1070	+	Acute lymphoblastic leukemia(192;6.56e-05)		302					Q5JRZ7|Q5JRZ8|Q6NZX2|Q8N3Q1|Q8TED7	Missense_Mutation	SNP	ENST00000339249.4	37	c.905C>G	CCDS14649.1	.	.	.	.	.	.	.	.	.	.	C	2.622	-0.288419	0.05605	.	.	ENSG00000173275	ENST00000339249	T	0.06687	3.27	5.04	2.33	0.28932	.	0.490245	0.17451	N	0.173784	T	0.04137	0.0115	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45629	-0.9248	10	0.02654	T	1	.	5.8113	0.18467	0.0:0.6656:0.0:0.3344	.	302	Q6P9G9	ZN449_HUMAN	C	302	ENSP00000339585:S302C	ENSP00000339585:S302C	S	+	2	0	ZNF449	134322015	0.000000	0.05858	0.124000	0.21820	0.304000	0.27724	-0.266000	0.08631	0.639000	0.30564	0.594000	0.82650	TCC		0.468	ZNF449-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058411.1	NM_152695	
FLNA	2316	broad.mit.edu	37	X	153581222	153581222	+	Silent	SNP	G	G	A	rs377571943		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:153581222G>A	ENST00000369850.3	-	39	6533	c.6297C>T	c.(6295-6297)gaC>gaT	p.D2099D	FLNA_ENST00000369856.3_Silent_p.D232D|FLNA_ENST00000498491.1_5'Flank|FLNA_ENST00000360319.4_Silent_p.D2091D|FLNA_ENST00000422373.1_Silent_p.D2091D|FLNA_ENST00000344736.4_Silent_p.D2059D	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2099					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCACGTCCCGTCCTCCAGGT	0.602																																						uc004fkk.2																			0				breast(6)	6						c.(6295-6297)gaC>gaT		Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.		G	,	1,3725		0,1,1577,570	103.0	105.0	105.0		6297,6273	-4.7	0.9	X		105	0,6627		0,0,2396,1835	no	coding-synonymous,coding-synonymous	FLNA	NM_001110556.1,NM_001456.3	,	0,1,3973,2405	AA,AG,GG,G		0.0,0.0268,0.0097	,	2099/2648,2091/2640	153581222	1,10352	2148	4231	6379	SO:0001819	synonymous_variant	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153581222G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.6297C>T	X.37:g.153581222G>A						FLNA_uc011mzn.1_Silent_p.D232D|FLNA_uc010nuu.1_Silent_p.D2091D	p.D2099D	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			38	6546	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		2099					E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.6297C>T	CCDS48194.1																																																																																				0.602	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3		
